#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_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	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_Codon	i_COSMIC_Gene	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Start_position_hg18	i_TranscriptID	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
CALHM1	255022	broad.mit.edu	37	10	105215228	105215229	+	Frame_Shift_Ins	INS	-	-	G	rs367692653		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:105215228_105215229insG	ENST00000329905.5	-	2	967_968	c.831_832insC	c.(829-834)cccacgfs	p.T278fs	CALHM2_ENST00000393235.1_5'Flank|RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	278					ATP transport (GO:0015867)|cation transport (GO:0006812)|protein homooligomerization (GO:0051260)|regulation of ion transmembrane transport (GO:0034765)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|identical protein binding (GO:0042802)|voltage-gated ion channel activity (GO:0005244)	p.T278fs*60(1)		large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						TCGGGGGTCGTGGGGGCAGCTG	0.624																																					p.T278fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.832_833insC	10						.																																			105205219	SO:0001589	frameshift_variant	255022	exon2			BC036208	CCDS7550.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000185933	ENSG00000185933			23494	protein-coding gene	gene with protein product		612234	"""family with sequence similarity 26, member C"""	FAM26C		18585350	Standard	NM_001001412		Approved		uc001kxe.2	Q8IU99	OTTHUMG00000018991	ENST00000329905.5:c.832dupC	10.37:g.105215233_105215233dupG	ENSP00000329926:p.Thr278fs		105205218	NM_001001412	Q5W091	Frame_Shift_Ins	INS	ENST00000329905.5	37	CCDS7550.1																																																																																				0.624	CALHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050165.1	NM_001001412	
ANK3	288	broad.mit.edu	37	10	61835308	61835309	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	-	-	-	G	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:61835308_61835309insG	ENST00000280772.2	-	37	5521_5522	c.5330_5331insC	c.(5329-5331)ccafs	p.P1777fs	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1777	Ser-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.L1778fs*66(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATGACCTGAGTGGGGAAAATGG	0.455																																					p.P1777fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.5331_5332insC	10						.																																			61505315	SO:0001589	frameshift_variant	288	exon37			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.5331dupC	10.37:g.61835312_61835312dupG	ENSP00000280772:p.Pro1777fs		61505314	NM_020987	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Frame_Shift_Ins	INS	ENST00000280772.2	37	CCDS7258.1																																																																																				0.455	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987	
CNNM1	26507	broad.mit.edu	37	10	101090094	101090094	+	Missense_Mutation	SNP	G	G	A	rs370414041		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:101090094G>A	ENST00000356713.4	+	1	1239	c.950G>A	c.(949-951)aGc>aAc	p.S317N	CNNM1_ENST00000370534.4_5'UTR|CNNM1_ENST00000370528.3_Missense_Mutation_p.S246N|CNNM1_ENST00000446890.1_Missense_Mutation_p.S246N	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	317	DUF21.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)	p.S317N(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		GAAGACTACAGCGAAGAGGGG	0.692																																					p.S317N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G950A	10						.	G	ASN/SER	0,4010		0,0,2005	8.0	11.0	10.0		950	3.4	1.0	10		10	1,8283		0,1,4141	no	missense	CNNM1	NM_020348.2	46	0,1,6146	AA,AG,GG		0.0121,0.0,0.0081	benign	317/952	101090094	1,12293	2005	4142	6147	101080084	SO:0001583	missense	26507	exon1			AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"""cyclin M1"""	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.950G>A	10.37:g.101090094G>A	ENSP00000349147:p.Ser317Asn		101080084	NM_020348	Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Missense_Mutation	SNP	ENST00000356713.4	37	CCDS7478.2	.	.	.	.	.	.	.	.	.	.	G	4.997	0.185236	0.09495	0.0	1.21E-4	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370528	D;D;D	0.82803	-1.65;-1.65;-1.64	4.33	3.4	0.38934	Domain of unknown function DUF21 (1);	0.852654	0.10326	N	0.688184	T	0.68174	0.2972	N	0.12746	0.255	0.80722	D	1	B;B	0.16166	0.016;0.005	B;B	0.18561	0.009;0.022	T	0.57676	-0.7770	10	0.28530	T	0.3	-15.6987	8.3268	0.32162	0.0:0.1707:0.6529:0.1764	.	317;317	Q9NRU3-2;Q9NRU3	.;CNNM1_HUMAN	N	317;246;246	ENSP00000349147:S317N;ENSP00000406492:S246N;ENSP00000359559:S246N	ENSP00000349147:S317N	S	+	2	0	CNNM1	101080084	0.347000	0.24853	0.997000	0.53966	0.607000	0.37147	1.779000	0.38624	1.003000	0.39130	0.462000	0.41574	AGC		0.692	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348	
PAX2	5076	broad.mit.edu	37	10	102587330	102587330	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:102587330G>C	ENST00000428433.1	+	11	1758	c.1208G>C	c.(1207-1209)cGg>cCg	p.R403P	PAX2_ENST00000355243.3_Missense_Mutation_p.R380P|PAX2_ENST00000361791.3_3'UTR|PAX2_ENST00000556085.1_Missense_Mutation_p.R379P|PAX2_ENST00000370296.2_3'UTR	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2	403					aging (GO:0007568)|axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cell fate determination (GO:0001709)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucose stimulus (GO:0071333)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|glial cell differentiation (GO:0010001)|inner ear morphogenesis (GO:0042472)|mesenchymal to epithelial transition (GO:0060231)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|mesonephric duct development (GO:0072177)|mesonephric tubule formation (GO:0072172)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric nephron tubule formation (GO:0072289)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytolysis (GO:0045918)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of programmed cell death (GO:0043069)|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)|nephric duct formation (GO:0072179)|neural tube closure (GO:0001843)|optic chiasma development (GO:0061360)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|optic nerve development (GO:0021554)|optic nerve morphogenesis (GO:0021631)|optic nerve structural organization (GO:0021633)|pancreas development (GO:0031016)|paramesonephric duct development (GO:0061205)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of optic nerve formation (GO:2000597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|protein kinase B signaling (GO:0043491)|reactive oxygen species metabolic process (GO:0072593)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of metanephros size (GO:0035566)|response to nutrient levels (GO:0031667)|retinal pigment epithelium development (GO:0003406)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|ureter development (GO:0072189)|ureter maturation (GO:0035799)|ureter morphogenesis (GO:0072197)|urogenital system development (GO:0001655)|vestibulocochlear nerve formation (GO:0021650)|visual perception (GO:0007601)	centriolar satellite (GO:0034451)|lysosome (GO:0005764)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|superoxide-generating NADPH oxidase activity (GO:0016175)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		GCCGCCCCCCGGGGCTCCGCC	0.567																																					p.R403P												.	.	0			c.G1208C	10						.						47.0	52.0	51.0					10																	102587330		1817	4079	5896	102577320	SO:0001583	missense	5076	exon11				CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891		"""Paired boxes"", ""Homeoboxes / PRD class"""	8616	protein-coding gene	gene with protein product		167409	"""paired box gene 2"""			8431641, 7981748	Standard	NM_003990		Approved		uc001krk.4	Q02962	OTTHUMG00000018913	ENST00000428433.1:c.1208G>C	10.37:g.102587330G>C	ENSP00000396259:p.Arg403Pro		102577320	NM_003987	Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Missense_Mutation	SNP	ENST00000428433.1	37	CCDS53569.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837686	0.71373	.	.	ENSG00000075891	ENST00000370294;ENST00000428433;ENST00000355243;ENST00000556085	T;T;T	0.36878	1.23;1.23;1.23	3.75	3.75	0.43078	.	.	.	.	.	T	0.57184	0.2036	.	.	.	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.79108	0.986;0.986;0.992	T	0.59156	-0.7507	8	0.39692	T	0.17	.	14.5518	0.68073	0.0:0.0:1.0:0.0	.	379;380;403	G3V5U4;Q02962-3;Q02962	.;.;PAX2_HUMAN	P	295;403;380;379	ENSP00000396259:R403P;ENSP00000347385:R380P;ENSP00000452527:R379P	ENSP00000347385:R380P	R	+	2	0	PAX2	102577320	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.268000	0.95675	1.643000	0.50594	0.484000	0.47621	CGG		0.567	PAX2-202	KNOWN	basic|CCDS	protein_coding	protein_coding			
MGEA5	10724	broad.mit.edu	37	10	103558844	103558844	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:103558844T>C	ENST00000361464.3	-	9	1959	c.1564A>G	c.(1564-1566)Agt>Ggt	p.S522G	MGEA5_ENST00000370094.3_Missense_Mutation_p.S522G|MGEA5_ENST00000357797.5_Missense_Mutation_p.S469G|MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000439817.1_Missense_Mutation_p.S469G	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	522					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)	p.S522G(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		GCAATGTCACTAATACAATCT	0.443																																					p.S522G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1564G	10						.						277.0	250.0	259.0					10																	103558844		2203	4300	6503	103548834	SO:0001583	missense	10724	exon9			AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"""nuclear cytoplasmic O-GlcNAcase and acetyltransferase"""	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.1564A>G	10.37:g.103558844T>C	ENSP00000354850:p.Ser522Gly		103548834	NM_012215	B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Missense_Mutation	SNP	ENST00000361464.3	37	CCDS7520.1	.	.	.	.	.	.	.	.	.	.	T	8.567	0.879220	0.17395	.	.	ENSG00000198408	ENST00000439817;ENST00000361464;ENST00000357797;ENST00000370094	T;T;T;T	0.35421	1.33;1.32;1.33;1.31	6.06	3.71	0.42584	.	0.233729	0.56097	D	0.000022	T	0.25865	0.0630	L	0.27053	0.805	0.80722	D	1	B;B;B;B;B	0.25272	0.049;0.122;0.017;0.091;0.007	B;B;B;B;B	0.27380	0.016;0.059;0.009;0.079;0.02	T	0.04991	-1.0913	10	0.56958	D	0.05	-0.2856	9.1928	0.37209	0.0:0.0641:0.1245:0.8115	.	469;85;469;522;522	E9PGF9;B3KMK2;O60502-2;O60502-3;O60502	.;.;.;.;NCOAT_HUMAN	G	469;522;469;522	ENSP00000409973:S469G;ENSP00000354850:S522G;ENSP00000350445:S469G;ENSP00000359112:S522G	ENSP00000350445:S469G	S	-	1	0	MGEA5	103548834	1.000000	0.71417	0.624000	0.29186	0.001000	0.01503	4.572000	0.60886	0.506000	0.28125	-0.250000	0.11733	AGT		0.443	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1	NM_012215	
C10orf76	79591	broad.mit.edu	37	10	103766310	103766310	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:103766310C>T	ENST00000370033.4	-	14	1154	c.1035G>A	c.(1033-1035)ccG>ccA	p.P345P		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	345						integral component of membrane (GO:0016021)		p.P345P(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		CAGAGGAAGGCGGTGTGGTCC	0.488																																					p.P345P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1035A	10						.						125.0	133.0	131.0					10																	103766310		1949	4140	6089	103756300	SO:0001819	synonymous_variant	79591	exon14			AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.1035G>A	10.37:g.103766310C>T			103756300	NM_024541	Q2TB87|Q9H8Z9	Silent	SNP	ENST00000370033.4	37	CCDS41563.1																																																																																				0.488	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1	NM_024541	
NOLC1	9221	broad.mit.edu	37	10	103917855	103917855	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:103917855C>A	ENST00000605788.1	+	5	726	c.491C>A	c.(490-492)gCc>gAc	p.A164D	NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000405356.1_Missense_Mutation_p.A164D|NOLC1_ENST00000488254.2_Missense_Mutation_p.A165D	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	164	11 X 12 AA approximate repeats of an acidic serine cluster.				cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)	p.A164D(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		CCTAAGAAGGCCAAGAGCTCT	0.478																																					p.A164D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C491A	10						.						81.0	84.0	83.0					10																	103917855		2203	4300	6503	103907845	SO:0001583	missense	9221	exon5			Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.491C>A	10.37:g.103917855C>A	ENSP00000474710:p.Ala164Asp		103907845	NM_004741	Q15030|Q5VV70|Q9BUV3	Missense_Mutation	SNP	ENST00000605788.1	37	CCDS7530.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521599	0.64747	.	.	ENSG00000166197	ENST00000405356;ENST00000370007	T	0.37235	1.21	5.72	5.72	0.89469	.	0.088840	0.48767	D	0.000176	T	0.48607	0.1509	L	0.51853	1.615	0.58432	D	0.999995	D;D;D	0.63046	0.992;0.992;0.986	P;P;P	0.52957	0.714;0.714;0.522	T	0.46359	-0.9197	10	0.72032	D	0.01	-6.8432	18.8652	0.92289	0.0:1.0:0.0:0.0	.	165;164;164	Q14978-3;Q14978-2;Q14978	.;.;NOLC1_HUMAN	D	164	ENSP00000385410:A164D	ENSP00000359024:A164D	A	+	2	0	NOLC1	103907845	0.979000	0.34478	0.959000	0.39883	0.979000	0.70002	2.541000	0.45735	2.709000	0.92574	0.561000	0.74099	GCC		0.478	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741	
TAF5	6877	broad.mit.edu	37	10	105138145	105138145	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:105138145G>A	ENST00000369839.3	+	3	974	c.951G>A	c.(949-951)ttG>ttA	p.L317L	TAF5_ENST00000351396.4_Silent_p.L317L	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	317					chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.L317L(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		ACCAACTCTTGAAGAGGCATC	0.423																																					p.L317L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G951A	10						.						116.0	106.0	109.0					10																	105138145		2203	4300	6503	105128135	SO:0001819	synonymous_variant	6877	exon3			X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"""WD repeat domain containing"""	11539	protein-coding gene	gene with protein product		601787	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"""	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.951G>A	10.37:g.105138145G>A			105128135	NM_006951	A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Silent	SNP	ENST00000369839.3	37	CCDS7547.1																																																																																				0.423	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050144.1		
COL17A1	1308	broad.mit.edu	37	10	105798223	105798223	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:105798223G>A	ENST00000353479.5	-	45	3301	c.3011C>T	c.(3010-3012)cCg>cTg	p.P1004L	COL17A1_ENST00000369733.3_Missense_Mutation_p.P959L	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1004	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.P1004L(2)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GATAGAGCCCGGAGGCCCAGG	0.607																																					p.P1004L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3011T	10						.						90.0	100.0	97.0					10																	105798223		2199	4293	6492	105788213	SO:0001583	missense	1308	exon45			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.3011C>T	10.37:g.105798223G>A	ENSP00000340937:p.Pro1004Leu		105788213	NM_000494	Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	37	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.901321	0.52227	.	.	ENSG00000065618	ENST00000353479;ENST00000369733	D;D	0.96136	-3.92;-2.94	4.81	4.81	0.61882	.	0.000000	0.43579	D	0.000547	D	0.97688	0.9242	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98208	1.0471	10	0.59425	D	0.04	-2.5077	14.8213	0.70074	0.0:0.0:1.0:0.0	.	1004	Q9UMD9	COHA1_HUMAN	L	1004;959	ENSP00000340937:P1004L;ENSP00000358748:P959L	ENSP00000340937:P1004L	P	-	2	0	COL17A1	105788213	1.000000	0.71417	0.933000	0.37362	0.112000	0.19704	3.846000	0.55888	2.222000	0.72286	0.462000	0.41574	CCG		0.607	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494	
ITPRIP	85450	broad.mit.edu	37	10	106075503	106075503	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:106075503A>G	ENST00000337478.1	-	2	478	c.307T>C	c.(307-309)Tgg>Cgg	p.W103R	ITPRIP_ENST00000278071.2_Missense_Mutation_p.W103R|ITPRIP_ENST00000358187.2_Missense_Mutation_p.W103R|RP11-127L20.5_ENST00000472915.2_RNA	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	103						membrane (GO:0016020)|plasma membrane (GO:0005886)		p.W103R(1)		breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						TCCTGCCGCCACACCTCGATC	0.687																																					p.W103R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T307C	10						.						71.0	73.0	72.0					10																	106075503		2203	4300	6503	106065493	SO:0001583	missense	85450	exon3			AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"""KIAA1754"", ""inositol 1,4,5-triphosphate receptor interacting protein"""	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.307T>C	10.37:g.106075503A>G	ENSP00000337178:p.Trp103Arg		106065493	NM_033397	D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Missense_Mutation	SNP	ENST00000337478.1	37	CCDS7557.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.171271	0.78452	.	.	ENSG00000148841	ENST00000337478;ENST00000278071;ENST00000358187;ENST00000458723	T;T;T	0.23348	1.91;1.91;1.91	5.68	5.68	0.88126	.	0.174016	0.53938	D	0.000053	T	0.34279	0.0892	M	0.63428	1.95	0.33824	D	0.629353	P	0.49961	0.93	P	0.45037	0.467	T	0.55547	-0.8124	10	0.87932	D	0	-15.8513	15.9181	0.79539	1.0:0.0:0.0:0.0	.	103	Q8IWB1	IPRI_HUMAN	R	103	ENSP00000337178:W103R;ENSP00000278071:W103R;ENSP00000350915:W103R	ENSP00000278071:W103R	W	-	1	0	ITPRIP	106065493	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.027000	0.76463	2.161000	0.67846	0.460000	0.39030	TGG		0.687	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	NM_033397	
SORCS1	114815	broad.mit.edu	37	10	108389018	108389018	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:108389018G>A	ENST00000263054.6	-	19	2611	c.2604C>T	c.(2602-2604)acC>acT	p.T868T	SORCS1_ENST00000369698.1_Silent_p.T403T|SORCS1_ENST00000344440.6_Silent_p.T868T	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	868	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.T868T(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCACCTGCACGGTCACACGGA	0.458																																					p.T868T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2604T	10						.						158.0	114.0	129.0					10																	108389018		2203	4300	6503	108379008	SO:0001819	synonymous_variant	114815	exon19			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2604C>T	10.37:g.108389018G>A			108379008	NM_052918	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Silent	SNP	ENST00000263054.6	37	CCDS7559.1																																																																																				0.458	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918	
SORCS1	114815	broad.mit.edu	37	10	108536385	108536385	+	Silent	SNP	A	A	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:108536385A>C	ENST00000263054.6	-	4	799	c.792T>G	c.(790-792)acT>acG	p.T264T	SORCS1_ENST00000344440.6_Silent_p.T264T	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	264					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.T264T(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ACTTTTGATAAGTTGCCCCTT	0.423																																					p.T264T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T792G	10						.						147.0	137.0	141.0					10																	108536385		2203	4300	6503	108526375	SO:0001819	synonymous_variant	114815	exon4			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.792T>G	10.37:g.108536385A>C			108526375	NM_052918	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Silent	SNP	ENST00000263054.6	37	CCDS7559.1																																																																																				0.423	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918	
ABLIM1	3983	broad.mit.edu	37	10	116335236	116335236	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:116335236C>T	ENST00000277895.5	-	3	599	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	ABLIM1_ENST00000533213.2_Missense_Mutation_p.E108K|ABLIM1_ENST00000369252.4_Missense_Mutation_p.E108K	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	168	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.E108K(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GTCACCACTTCGCCCTCCACG	0.537																																					p.E168K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G502A	10						.						139.0	111.0	120.0					10																	116335236		2203	4300	6503	116325226	SO:0001583	missense	3983	exon3			AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.502G>A	10.37:g.116335236C>T	ENSP00000277895:p.Glu168Lys		116325226	NM_002313	A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000277895.5	37	CCDS7590.1	.	.	.	.	.	.	.	.	.	.	C	32	5.119818	0.94385	.	.	ENSG00000099204	ENST00000336585;ENST00000369252;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369256;ENST00000369260;ENST00000277895	D;D;D	0.87103	-2.21;-2.21;-2.21	5.7	5.7	0.88788	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.92811	0.7714	M	0.62209	1.925	0.80722	D	1	D;P;D;D;P;D	0.89917	0.972;0.622;1.0;0.989;0.944;1.0	P;P;D;P;P;D	0.79784	0.67;0.539;0.981;0.7;0.555;0.993	D	0.92589	0.6081	10	0.59425	D	0.04	.	19.8218	0.96599	0.0:1.0:0.0:0.0	.	92;108;108;168;108;92	B7Z4H1;F8W8M4;A6NKJ2;O14639;B3KVH2;C9K0X4	.;.;.;ABLM1_HUMAN;.;.	K	168;108;108;108;168;92;92;92;168	ENSP00000358256:E108K;ENSP00000433629:E108K;ENSP00000277895:E168K	ENSP00000277895:E168K	E	-	1	0	ABLIM1	116325226	1.000000	0.71417	0.997000	0.53966	0.689000	0.40095	7.818000	0.86416	2.678000	0.91216	0.655000	0.94253	GAA		0.537	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3		
RAB11FIP2	22841	broad.mit.edu	37	10	119805617	119805617	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:119805617G>A	ENST00000355624.3	-	1	497	c.58C>T	c.(58-60)Ctc>Ttc	p.L20F	CASC2_ENST00000454857.1_RNA|RP11-354M20.3_ENST00000451610.2_RNA|CASC2_ENST00000414722.1_RNA|CASC2_ENST00000435944.1_RNA|RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.L20F|CASC2_ENST00000454781.1_RNA|CASC2_ENST00000426021.1_RNA|RP11-354M20.3_ENST00000417968.4_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	20	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Necessary for its cellular translocation to the plasma membrane.				establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.L20F(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		TTGGCTTGGAGCACTGTGACC	0.507																																					p.L20F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C58T	10						.						261.0	238.0	246.0					10																	119805617		2203	4300	6503	119795607	SO:0001583	missense	22841	exon1			AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.58C>T	10.37:g.119805617G>A	ENSP00000347839:p.Leu20Phe		119795607	NM_014904	A6NEI4|Q3I768|Q9Y2F0	Missense_Mutation	SNP	ENST00000355624.3	37	CCDS7602.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.912864	0.92178	.	.	ENSG00000107560	ENST00000355624;ENST00000369199	T;T	0.70516	-0.49;-0.49	4.83	4.83	0.62350	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.85504	0.5712	M	0.92077	3.27	0.80722	D	1	P;D	0.59767	0.95;0.986	P;D	0.64687	0.874;0.928	D	0.87916	0.2700	10	0.59425	D	0.04	-6.4182	11.8152	0.52207	0.0809:0.0:0.9191:0.0	.	20;20	Q3I768;Q7L804	.;RFIP2_HUMAN	F	20	ENSP00000347839:L20F;ENSP00000358200:L20F	ENSP00000347839:L20F	L	-	1	0	RAB11FIP2	119795607	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.741000	0.84997	2.416000	0.81992	0.549000	0.68633	CTC		0.507	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050583.1	NM_014904	
TIAL1	7073	broad.mit.edu	37	10	121341717	121341717	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:121341717C>T	ENST00000436547.2	-	4	291	c.247G>A	c.(247-249)Gca>Aca	p.A83T	TIAL1_ENST00000369093.2_Missense_Mutation_p.A100T|TIAL1_ENST00000369092.4_5'UTR	NM_003252.3	NP_003243.1	Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1	83	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|defense response (GO:0006952)|germ cell development (GO:0007281)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell division (GO:0017145)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A100T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		GGTGTGGTTGCCCAGTTTACT	0.343																																					p.A100T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G298A	10						.						80.0	84.0	83.0					10																	121341717		2203	4300	6503	121331707	SO:0001583	missense	7073	exon4			AL833106	CCDS7613.1, CCDS31295.1	10q	2013-02-12	2001-11-28		ENSG00000151923	ENSG00000151923		"""RNA binding motif (RRM) containing"""	11804	protein-coding gene	gene with protein product		603413	"""TIA1 cytotoxic granule-associated RNA-binding protein-like 1"""			1326761	Standard	XM_005270108		Approved	TIAR	uc001lej.1	Q01085	OTTHUMG00000019156	ENST00000436547.2:c.247G>A	10.37:g.121341717C>T	ENSP00000394902:p.Ala83Thr		121331707	NM_001033925	A8K3T0|A8K4L9	Missense_Mutation	SNP	ENST00000436547.2	37	CCDS7613.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.014059	0.93404	.	.	ENSG00000151923	ENST00000369093;ENST00000436547;ENST00000412524;ENST00000369086	D;T;D;T	0.85702	-2.02;0.85;-2.02;2.97	6.16	6.16	0.99307	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	D	0.91978	0.7459	M	0.86864	2.845	0.80722	D	1	P;P	0.50066	0.931;0.766	P;B	0.52454	0.699;0.314	D	0.92237	0.5797	10	0.87932	D	0	-21.418	20.8598	0.99761	0.0:1.0:0.0:0.0	.	100;83	A8K4L9;Q01085	.;TIAR_HUMAN	T	100;83;44;44	ENSP00000358089:A100T;ENSP00000394902:A83T;ENSP00000403573:A44T;ENSP00000358082:A44T	ENSP00000358082:A44T	A	-	1	0	TIAL1	121331707	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.615000	0.67702	2.937000	0.99478	0.650000	0.86243	GCA		0.343	TIAL1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050672.2	NM_022333, NM_003252	
TACC2	10579	broad.mit.edu	37	10	123848029	123848029	+	Silent	SNP	G	G	A	rs563753676		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:123848029G>A	ENST00000369005.1	+	5	5836	c.5496G>A	c.(5494-5496)tcG>tcA	p.S1832S	TACC2_ENST00000515603.1_Silent_p.S1832S|TACC2_ENST00000453444.2_Silent_p.S1832S|TACC2_ENST00000334433.3_Silent_p.S1832S|TACC2_ENST00000515273.1_Silent_p.S1832S|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1832					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)	p.S1832S(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGTTACCTTCGGTTCCTAAGA	0.443													G|||	1	0.000199681	0.0	0.0	5008	,	,		18884	0.0		0.0	False		,,,				2504	0.001				p.S1832S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G5496A	10						.						65.0	58.0	60.0					10																	123848029		2203	4300	6503	123838019	SO:0001819	synonymous_variant	10579	exon5			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.5496G>A	10.37:g.123848029G>A			123838019	NM_206862	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	CCDS7626.1																																																																																				0.443	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1		
C10orf120	399814	broad.mit.edu	37	10	124457453	124457453	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:124457453G>A	ENST00000329446.4	-	3	835	c.804C>T	c.(802-804)ccC>ccT	p.P268P		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	268								p.P268P(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GTTTCTTTGCGGGGAGGAATG	0.368																																					p.P268P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C804T	10						.						153.0	150.0	151.0					10																	124457453		2203	4300	6503	124447443	SO:0001819	synonymous_variant	399814	exon3				CCDS31302.1	10q26.13	2012-06-12			ENSG00000183559	ENSG00000183559			25707	protein-coding gene	gene with protein product							Standard	NM_001010912		Approved	bA318C4.1	uc001lgn.3	Q5SQS8	OTTHUMG00000019187	ENST00000329446.4:c.804C>T	10.37:g.124457453G>A			124447443	NM_001010912	B2RU17	Silent	SNP	ENST00000329446.4	37	CCDS31302.1																																																																																				0.368	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050803.1	NM_001010912	
MMP21	118856	broad.mit.edu	37	10	127455416	127455416	+	Missense_Mutation	SNP	C	C	T	rs145727162		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:127455416C>T	ENST00000368808.3	-	7	1524	c.1525G>A	c.(1525-1527)Gct>Act	p.A509T		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	509					hematopoietic progenitor cell differentiation (GO:0002244)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A509T(2)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)			Marimastat(DB00786)	GAGTAATAAGCGGAATCTATA	0.358																																					p.A509T												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G1525A	10						.	C	THR/ALA	0,4406		0,0,2203	112.0	114.0	113.0		1525	5.9	0.1	10	dbSNP_134	113	1,8599	1.2+/-3.3	0,1,4299	no	missense	MMP21	NM_147191.1	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	509/570	127455416	1,13005	2203	4300	6503	127445406	SO:0001583	missense	118856	exon7			AF331526	CCDS7647.1	10q26.3	2008-07-28	2005-08-08		ENSG00000154485	ENSG00000154485			14357	protein-coding gene	gene with protein product		608416	"""matrix metalloproteinase 21"""			11255011	Standard	NM_147191		Approved		uc001liu.3	Q8N119	OTTHUMG00000019235	ENST00000368808.3:c.1525G>A	10.37:g.127455416C>T	ENSP00000357798:p.Ala509Thr		127445406	NM_147191	Q5VZP9|Q8NG02	Missense_Mutation	SNP	ENST00000368808.3	37	CCDS7647.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962288	0.92791	0.0	1.16E-4	ENSG00000154485	ENST00000368808	T	0.18338	2.22	5.95	5.95	0.96441	Hemopexin/matrixin (2);	0.056613	0.64402	D	0.000002	T	0.40743	0.1129	M	0.71581	2.175	0.52501	D	0.999957	D	0.89917	1.0	P	0.62435	0.902	T	0.05818	-1.0862	10	0.56958	D	0.05	-8.7773	17.8792	0.88835	0.0:1.0:0.0:0.0	.	509	Q8N119	MMP21_HUMAN	T	509	ENSP00000357798:A509T	ENSP00000357798:A509T	A	-	1	0	MMP21	127445406	0.991000	0.36638	0.117000	0.21633	0.044000	0.14063	3.067000	0.50010	2.825000	0.97269	0.655000	0.94253	GCT		0.358	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050928.1		
C10orf90	118611	broad.mit.edu	37	10	128193470	128193470	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:128193470A>G	ENST00000284694.7	-	3	419	c.299T>C	c.(298-300)tTt>tCt	p.F100S	C10orf90_ENST00000356858.3_Missense_Mutation_p.F53S|C10orf90_ENST00000392694.1_Missense_Mutation_p.F53S|C10orf90_ENST00000454341.1_Missense_Mutation_p.F100S|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000544758.1_Missense_Mutation_p.F197S	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	100					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.F100S(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		AAGTAACGCAAATGCTCTGTG	0.602											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.F100S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T299C	10						.						135.0	104.0	115.0					10																	128193470		2203	4300	6503	128183460	SO:0001583	missense	118611	exon3			BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.299T>C	10.37:g.128193470A>G	ENSP00000284694:p.Phe100Ser	1563	128183460	NM_001004298	B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.934684	0.52866	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	T;T;T;T;T	0.34859	1.61;1.57;1.68;1.63;1.34	4.66	4.66	0.58398	.	0.236437	0.30365	N	0.009790	T	0.48995	0.1531	L	0.49350	1.555	0.09310	N	1	P;D;P;P;P	0.76494	0.717;0.999;0.952;0.717;0.496	B;D;P;B;B	0.68943	0.352;0.961;0.606;0.352;0.178	T	0.34279	-0.9835	10	0.44086	T	0.13	-10.7219	9.6598	0.39947	0.9155:0.0:0.0845:0.0	.	197;197;53;100;100	F5GZL2;B4DMQ6;Q5T024;Q96M02;Q96M02-2	.;.;.;CJ090_HUMAN;.	S	53;100;100;197;100;53;53	ENSP00000284694:F100S;ENSP00000398786:F100S;ENSP00000444369:F197S;ENSP00000405995:F100S;ENSP00000376459:F53S	ENSP00000284694:F100S	F	-	2	0	C10orf90	128183460	0.938000	0.31826	0.008000	0.14137	0.003000	0.03518	4.018000	0.57174	1.956000	0.56807	0.459000	0.35465	TTT		0.602	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298	
DOCK1	1793	broad.mit.edu	37	10	129183075	129183075	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:129183075G>A	ENST00000280333.6	+	38	3875	c.3766G>A	c.(3766-3768)Gcc>Acc	p.A1256T		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1256	DHR-2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.A1256T(1)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TGTGTGTGTGGCCCACCTCAC	0.592																																					p.A1256T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3766A	10						.						96.0	95.0	96.0					10																	129183075		2110	4229	6339	129073065	SO:0001583	missense	1793	exon38			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.3766G>A	10.37:g.129183075G>A	ENSP00000280333:p.Ala1256Thr		129073065	NM_001380	A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37		.	.	.	.	.	.	.	.	.	.	G	16.72	3.200560	0.58126	.	.	ENSG00000150760	ENST00000280333	T	0.01685	4.69	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.03739	0.0106	L	0.40543	1.245	0.58432	D	0.999999	B;D;B	0.53151	0.066;0.958;0.25	B;P;B	0.49502	0.028;0.613;0.041	T	0.63134	-0.6705	10	0.33141	T	0.24	.	17.6411	0.88137	0.0:0.0:1.0:0.0	.	1256;1322;1256	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	T	1256	ENSP00000280333:A1256T	ENSP00000280333:A1256T	A	+	1	0	DOCK1	129073065	1.000000	0.71417	0.948000	0.38648	0.802000	0.45316	5.128000	0.64733	2.409000	0.81822	0.563000	0.77884	GCC		0.592	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380	
MKI67	4288	broad.mit.edu	37	10	129897486	129897486	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:129897486T>C	ENST00000368654.3	-	15	10114	c.9739A>G	c.(9739-9741)Acc>Gcc	p.T3247A	MKI67_ENST00000368653.3_Missense_Mutation_p.T2887A	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	3247					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.T3247A(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGACTTCTGGTTCTTATTTTC	0.338																																					p.T2887A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A8659G	10						.						78.0	73.0	75.0					10																	129897486		2203	4299	6502	129787476	SO:0001583	missense	4288	exon14			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.9739A>G	10.37:g.129897486T>C	ENSP00000357643:p.Thr3247Ala		129787476	NM_001145966	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	T	19.28	3.797531	0.70567	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02280	4.4;4.36	3.92	2.77	0.32553	.	0.316343	0.22853	N	0.054836	T	0.04272	0.0118	L	0.29908	0.895	0.20196	N	0.999926	D;D	0.69078	0.997;0.995	P;P	0.60415	0.874;0.751	T	0.33752	-0.9856	10	0.62326	D	0.03	.	6.7008	0.23225	0.2097:0.0:0.0:0.7903	.	2887;3247	P46013-2;P46013	.;KI67_HUMAN	A	3247;2887;3246	ENSP00000357643:T3247A;ENSP00000357642:T2887A	ENSP00000357642:T2887A	T	-	1	0	MKI67	129787476	0.996000	0.38824	0.366000	0.25914	0.708000	0.40852	1.318000	0.33643	0.848000	0.35191	0.533000	0.62120	ACC		0.338	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417	
MKI67	4288	broad.mit.edu	37	10	129903621	129903621	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:129903621C>T	ENST00000368654.3	-	13	6858	c.6483G>A	c.(6481-6483)agG>agA	p.R2161R	MKI67_ENST00000368653.3_Silent_p.R1801R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2161	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.R2161R(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTGCAGTTTCCCTGAACACGT	0.502																																					p.R1801R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G5403A	10						.						194.0	175.0	181.0					10																	129903621		2203	4300	6503	129793611	SO:0001819	synonymous_variant	4288	exon12			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.6483G>A	10.37:g.129903621C>T			129793611	NM_001145966	Q5VWH2	Silent	SNP	ENST00000368654.3	37	CCDS7659.1																																																																																				0.502	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417	
DIP2C	22982	broad.mit.edu	37	10	394648	394648	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:394648A>T	ENST00000280886.6	-	26	3251	c.3164T>A	c.(3163-3165)aTa>aAa	p.I1055K		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1055						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.I1055K(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ACGGACGGTTATTGGCACACA	0.542																																					p.I1055K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3164A	10						.						260.0	226.0	237.0					10																	394648		2203	4300	6503	384648	SO:0001583	missense	22982	exon26			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.3164T>A	10.37:g.394648A>T	ENSP00000280886:p.Ile1055Lys		384648	NM_014974	B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.263201	0.80358	.	.	ENSG00000151240	ENST00000280886	T	0.43688	0.94	5.61	5.61	0.85477	AMP-dependent synthetase/ligase (1);	0.096436	0.64402	D	0.000002	T	0.53110	0.1776	L	0.47190	1.495	0.80722	D	1	P	0.48764	0.915	P	0.55749	0.783	T	0.55360	-0.8153	10	0.72032	D	0.01	-24.4759	15.7955	0.78407	1.0:0.0:0.0:0.0	.	1055	Q9Y2E4	DIP2C_HUMAN	K	1055	ENSP00000280886:I1055K	ENSP00000280886:I1055K	I	-	2	0	DIP2C	384648	1.000000	0.71417	0.081000	0.20488	0.470000	0.32858	9.332000	0.96446	2.133000	0.65898	0.460000	0.39030	ATA		0.542	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974	
DIP2C	22982	broad.mit.edu	37	10	430000	430000	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:430000G>A	ENST00000280886.6	-	16	1930	c.1843C>T	c.(1843-1845)Cga>Tga	p.R615*	DIP2C_ENST00000381496.3_Nonsense_Mutation_p.R508*	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	615						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.R615*(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ATCAGCATTCGCAGAGAGGAG	0.483																																					p.R615X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1843T	10						.						95.0	80.0	85.0					10																	430000		2203	4300	6503	420000	SO:0001587	stop_gained	22982	exon16			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.1843C>T	10.37:g.430000G>A	ENSP00000280886:p.Arg615*		420000	NM_014974	B4DPI5|Q5SS78	Nonsense_Mutation	SNP	ENST00000280886.6	37	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.026612	0.54683	.	.	ENSG00000151240	ENST00000280886;ENST00000381496	.	.	.	5.43	4.53	0.55603	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.7404	9.1817	0.37146	0.0735:0.0:0.7818:0.1447	.	.	.	.	X	615;508	.	ENSP00000280886:R615X	R	-	1	2	DIP2C	420000	1.000000	0.71417	0.737000	0.30932	0.028000	0.11728	6.587000	0.74071	1.291000	0.44653	0.563000	0.77884	CGA		0.483	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974	
PITRM1	10531	broad.mit.edu	37	10	3208511	3208511	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:3208511C>T	ENST00000224949.4	-	4	362	c.328G>A	c.(328-330)Gtc>Atc	p.V110I	PITRM1_ENST00000451104.2_Missense_Mutation_p.V78I|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380989.2_Missense_Mutation_p.V110I			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	110					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.V110I(1)		breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						CCACAAAGGACGGTATGCTCA	0.498																																					p.V110I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G328A	10						.						151.0	152.0	152.0					10																	3208511		2013	4167	6180	3198511	SO:0001583	missense	10531	exon4			AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.328G>A	10.37:g.3208511C>T	ENSP00000224949:p.Val110Ile		3198511	NM_014889	B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	ENST00000224949.4	37	CCDS59208.1	.	.	.	.	.	.	.	.	.	.	c	14.22	2.470305	0.43942	.	.	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000451104	T;T;T	0.28895	1.59;1.59;1.59	5.59	4.69	0.59074	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.052018	0.85682	D	0.000000	T	0.38427	0.1040	L	0.51422	1.61	0.46061	D	0.998847	P;P;P;P;P;P	0.44195	0.796;0.52;0.674;0.721;0.721;0.828	B;B;B;B;B;P	0.47981	0.327;0.228;0.265;0.439;0.439;0.563	T	0.26503	-1.0101	10	0.66056	D	0.02	.	14.6682	0.68924	0.0:0.9299:0.0:0.0701	.	103;78;110;110;110;103	E9PDX6;E7ES23;Q5JRX3-2;C9JSL2;Q5JRX3;B4DH07	.;.;.;.;PREP_HUMAN;.	I	110;103;110;78	ENSP00000224949:V110I;ENSP00000370377:V110I;ENSP00000401201:V78I	ENSP00000224949:V110I	V	-	1	0	PITRM1	3198511	1.000000	0.71417	0.239000	0.24122	0.037000	0.13140	5.561000	0.67339	1.367000	0.46095	0.462000	0.41574	GTC		0.498	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2		
GDI2	2665	broad.mit.edu	37	10	5810277	5810277	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:5810277A>G	ENST00000380191.4	-	8	1180	c.890T>C	c.(889-891)gTg>gCg	p.V297A	GDI2_ENST00000380132.4_Missense_Mutation_p.V301A|GDI2_ENST00000479928.1_5'UTR|GDI2_ENST00000380181.3_Missense_Mutation_p.V252A	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	297					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|Rab GDP-dissociation inhibitor activity (GO:0005093)|Rab GTPase activator activity (GO:0005097)	p.V297A(1)		NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						AACTCTGATCACCTGGCCCAC	0.448																																					p.V252A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T755C	10						.						125.0	113.0	117.0					10																	5810277		2203	4299	6502	5850283	SO:0001583	missense	2665	exon7			D13988	CCDS7071.1, CCDS44352.1	10p15	2010-03-16			ENSG00000057608	ENSG00000057608			4227	protein-coding gene	gene with protein product	"""rab GDP-dissociation"""	600767				9434952	Standard	NM_001494		Approved	RABGDIB	uc001iil.4	P50395	OTTHUMG00000017607	ENST00000380191.4:c.890T>C	10.37:g.5810277A>G	ENSP00000369538:p.Val297Ala		5850283	NM_001115156	O43928|Q5SX88|Q9UQM6	Missense_Mutation	SNP	ENST00000380191.4	37	CCDS7071.1	.	.	.	.	.	.	.	.	.	.	A	33	5.247733	0.95305	.	.	ENSG00000057608	ENST00000380191;ENST00000380153;ENST00000447751;ENST00000380132;ENST00000380181	D;D;D;D	0.89681	-2.55;-2.55;-2.55;-2.55	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.93703	0.7988	M	0.80616	2.505	0.80722	D	1	P;B;P	0.50943	0.94;0.19;0.56	P;B;P	0.59056	0.851;0.246;0.766	D	0.94236	0.7481	10	0.66056	D	0.02	-19.0674	15.8781	0.79182	1.0:0.0:0.0:0.0	.	301;252;297	E7EU23;Q5SX88;P50395	.;.;GDIB_HUMAN	A	297;130;125;301;252	ENSP00000369538:V297A;ENSP00000387565:V125A;ENSP00000369475:V301A;ENSP00000369528:V252A	ENSP00000369475:V301A	V	-	2	0	GDI2	5850283	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.443000	0.80521	2.231000	0.72958	0.533000	0.62120	GTG		0.448	GDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046580.1	NM_001494	
ANKRD16	54522	broad.mit.edu	37	10	5929901	5929901	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:5929901G>A	ENST00000380094.5	-	2	987	c.444C>T	c.(442-444)ggC>ggT	p.G148G	ANKRD16_ENST00000191063.8_Silent_p.G148G|ANKRD16_ENST00000380092.4_Silent_p.G148G|FBXO18_ENST00000362091.4_5'Flank|FBXO18_ENST00000397269.3_5'Flank	NM_019046.2	NP_061919.1	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16	148								p.G148G(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						TCAGAGGGTCGCCTTCTCGAC	0.537																																					p.G148G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C444T	10						.						138.0	124.0	129.0					10																	5929901		2203	4300	6503	5969907	SO:0001819	synonymous_variant	54522	exon2			AL137614	CCDS31136.1, CCDS31137.1	10p15.1	2013-01-10			ENSG00000134461	ENSG00000134461		"""Ankyrin repeat domain containing"""	23471	protein-coding gene	gene with protein product							Standard	NM_019046		Approved	DKFZP434N1511	uc010qat.2	Q6P6B7	OTTHUMG00000017610	ENST00000380094.5:c.444C>T	10.37:g.5929901G>A			5969907	NM_001009943	A6NEF0|F8WEI4|Q9NT01	Silent	SNP	ENST00000380094.5	37	CCDS31136.1																																																																																				0.537	ANKRD16-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046611.2	XM_166138	
FBXO18	84893	broad.mit.edu	37	10	5948409	5948409	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:5948409T>C	ENST00000362091.4	+	3	682	c.567T>C	c.(565-567)ccT>ccC	p.P189P	FBXO18_ENST00000379999.5_Silent_p.P240P|FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000397269.3_5'UTR	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	189					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)	p.P240P(1)		NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						ACGTGGGTCCTGATCCCATTC	0.592																																					p.P240P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T720C	10						.						78.0	62.0	67.0					10																	5948409		2203	4300	6503	5988415	SO:0001819	synonymous_variant	84893	exon4			AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.567T>C	10.37:g.5948409T>C			5988415	NM_032807	Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Silent	SNP	ENST00000362091.4	37	CCDS7072.1																																																																																				0.592	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807	
FBXO18	84893	broad.mit.edu	37	10	5948498	5948498	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:5948498T>A	ENST00000362091.4	+	3	771	c.656T>A	c.(655-657)gTc>gAc	p.V219D	FBXO18_ENST00000379999.5_Missense_Mutation_p.V270D|FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000397269.3_5'UTR	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	219					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)	p.V270D(1)		NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CCTAGTGAGGTCCTGAGGCAC	0.572																																					p.V270D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T809A	10						.						90.0	75.0	80.0					10																	5948498		2203	4300	6503	5988504	SO:0001583	missense	84893	exon4			AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.656T>A	10.37:g.5948498T>A	ENSP00000355415:p.Val219Asp		5988504	NM_032807	Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.660580	0.88154	.	.	ENSG00000134452	ENST00000362091;ENST00000379999	T;T	0.53423	0.62;0.62	5.76	5.76	0.90799	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	0.185826	0.47093	D	0.000245	T	0.73032	0.3535	M	0.86805	2.84	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.984;0.99;0.99	T	0.78595	-0.2143	10	0.87932	D	0	-31.895	15.7457	0.77939	0.0:0.0:0.0:1.0	.	270;219;145	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	D	219;270	ENSP00000355415:V219D;ENSP00000369335:V270D	ENSP00000355415:V219D	V	+	2	0	FBXO18	5988504	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	6.811000	0.75221	2.191000	0.70037	0.533000	0.62120	GTC		0.572	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807	
ITIH5	80760	broad.mit.edu	37	10	7621922	7621922	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:7621922G>A	ENST00000256861.6	-	9	1292	c.1214C>T	c.(1213-1215)aCg>aTg	p.T405M	ITIH5_ENST00000397146.2_Missense_Mutation_p.T405M|ITIH5_ENST00000446830.2_Missense_Mutation_p.T187M|ITIH5_ENST00000397145.2_Missense_Mutation_p.T405M|ITIH5_ENST00000298441.6_Missense_Mutation_p.T191M|ITIH5_ENST00000434980.1_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	405	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.T405M(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CTTCCCATCCGTCAGGAAGAC	0.617																																					p.T405M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1214T	10						.						98.0	87.0	91.0					10																	7621922		2203	4300	6503	7661928	SO:0001583	missense	80760	exon9					10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1214C>T	10.37:g.7621922G>A	ENSP00000256861:p.Thr405Met		7661928	NM_030569	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37		.	.	.	.	.	.	.	.	.	.	G	24.0	4.484034	0.84854	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	D;D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37	5.33	5.33	0.75918	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.94775	0.8313	.	.	.	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.982;0.97	D	0.95223	0.8335	9	0.87932	D	0	-21.7939	18.9935	0.92803	0.0:0.0:1.0:0.0	.	405;405;191	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	M	405;405;191;187;405	ENSP00000256861:T405M;ENSP00000380333:T405M;ENSP00000298441:T191M;ENSP00000387969:T187M;ENSP00000380332:T405M	ENSP00000256861:T405M	T	-	2	0	ITIH5	7661928	1.000000	0.71417	0.947000	0.38551	0.676000	0.39594	9.145000	0.94634	2.491000	0.84063	0.561000	0.74099	ACG		0.617	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569	
ITIH5	80760	broad.mit.edu	37	10	7657950	7657950	+	Missense_Mutation	SNP	G	G	A	rs368025989		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:7657950G>A	ENST00000256861.6	-	7	1012	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W	ITIH5_ENST00000397146.2_Missense_Mutation_p.R312W|ITIH5_ENST00000446830.2_Missense_Mutation_p.R94W|ITIH5_ENST00000397145.2_Missense_Mutation_p.R312W|ITIH5_ENST00000298441.6_Missense_Mutation_p.R98W|ITIH5_ENST00000434980.1_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	312	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R312W(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CTCACCTGCCGGAGTTTGGTT	0.478																																					p.R312W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C934T	10						.	G	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	111.0	105.0	107.0		934,934,292	5.0	1.0	10		107	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ITIH5	NM_001001851.2,NM_030569.6,NM_032817.5	101,101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	312/703,312/943,98/729	7657950	1,13005	2203	4300	6503	7697956	SO:0001583	missense	80760	exon7					10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.934C>T	10.37:g.7657950G>A	ENSP00000256861:p.Arg312Trp		7697956	NM_030569	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37		.	.	.	.	.	.	.	.	.	.	G	21.0	4.078479	0.76528	0.0	1.16E-4	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74	5.97	5.0	0.66597	von Willebrand factor, type A (3);	0.239710	0.47455	D	0.000234	D	0.89276	0.6669	.	.	.	0.30799	N	0.740082	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.69142	0.962;0.956;0.927	D	0.87649	0.2527	9	0.87932	D	0	-23.6784	11.5892	0.50935	0.0:0.0:0.6356:0.3644	.	312;312;98	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	W	312;312;98;94;312	ENSP00000256861:R312W;ENSP00000380333:R312W;ENSP00000298441:R98W;ENSP00000387969:R94W;ENSP00000380332:R312W	ENSP00000256861:R312W	R	-	1	2	ITIH5	7697956	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	4.270000	0.58896	2.819000	0.97034	0.655000	0.94253	CGG		0.478	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569	
ATP5C1	509	broad.mit.edu	37	10	7841013	7841013	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:7841013G>T	ENST00000356708.7	+	4	363	c.284G>T	c.(283-285)gGt>gTt	p.G95V	ATP5C1_ENST00000541227.1_Missense_Mutation_p.G48V|ATP5C1_ENST00000335698.4_Missense_Mutation_p.G95V|ATP5C1_ENST00000493053.1_3'UTR	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	95					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)	p.G95V(1)		breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						CTCCTTATTGGTGTGTCCTCA	0.398																																					p.G95V	Melanoma(143;1012 1820 16249 30920 33158)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G284T	10						.						135.0	120.0	125.0					10																	7841013		2203	4300	6503	7881019	SO:0001583	missense	509	exon4			D16561	CCDS7081.1, CCDS31142.1	10p14	2012-10-12			ENSG00000165629	ENSG00000165629		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	833	protein-coding gene	gene with protein product		108729		ATP5CL1, ATP5C		8168843, 8227057	Standard	NM_005174		Approved		uc001iju.3	P36542	OTTHUMG00000017639	ENST00000356708.7:c.284G>T	10.37:g.7841013G>T	ENSP00000349142:p.Gly95Val		7881019	NM_001001973	A8KA31|Q5VYP3|Q6I9V2|Q96AS8	Missense_Mutation	SNP	ENST00000356708.7	37	CCDS31142.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.915949	0.52546	.	.	ENSG00000165629	ENST00000356708;ENST00000335698;ENST00000541227	.	.	.	5.46	5.46	0.80206	ATPase, F1 complex, gamma subunit domain (1);	0.000000	0.85682	D	0.000000	T	0.36166	0.0957	N	0.02960	-0.455	0.80722	D	1	B	0.22983	0.078	B	0.32624	0.149	T	0.35400	-0.9790	9	0.02654	T	1	-20.8331	19.6793	0.95956	0.0:0.0:1.0:0.0	.	95	P36542	ATPG_HUMAN	V	95;95;48	.	ENSP00000338568:G95V	G	+	2	0	ATP5C1	7881019	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.358000	0.97109	2.713000	0.92767	0.655000	0.94253	GGT		0.398	ATP5C1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046708.1	NM_005174	
PTER	9317	broad.mit.edu	37	10	16553049	16553049	+	Missense_Mutation	SNP	C	C	T	rs376388470		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:16553049C>T	ENST00000378000.1	+	6	1090	c.844C>T	c.(844-846)Cgt>Tgt	p.R282C	PTER_ENST00000535784.2_Missense_Mutation_p.R282C|PTER_ENST00000298942.3_Missense_Mutation_p.R282C|PTER_ENST00000423462.2_Missense_Mutation_p.R235C	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	282					catabolic process (GO:0009056)|epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)	p.R282C(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						TCACAGGGTGCGTCTCCTGGT	0.413																																					p.R282C	Ovarian(2;46 150 15648 38137 47908)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C844T	10						.	C	CYS/ARG,CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	76.0	70.0	72.0		844,844	4.1	1.0	10		72	0,8600		0,0,4300	no	missense,missense	PTER	NM_001001484.1,NM_030664.3	180,180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging	282/350,282/350	16553049	2,13004	2203	4300	6503	16593055	SO:0001583	missense	9317	exon6			BC015092	CCDS7111.1, CCDS58070.1, CCDS73070.1	10p12	2003-11-05			ENSG00000165983	ENSG00000165983			9590	protein-coding gene	gene with protein product		604446				9925913	Standard	NM_001001484		Approved		uc001ioi.2	Q96BW5	OTTHUMG00000017737	ENST00000378000.1:c.844C>T	10.37:g.16553049C>T	ENSP00000367239:p.Arg282Cys		16593055	NM_001001484	B0YJ77|B3KTF5|D3DRU0|Q9BY46	Missense_Mutation	SNP	ENST00000378000.1	37	CCDS7111.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.787816	0.31593	4.54E-4	0.0	ENSG00000165983	ENST00000343656;ENST00000535784;ENST00000423462;ENST00000378000;ENST00000298942	T;T;T;T	0.48201	0.91;0.82;0.91;0.91	5.9	4.05	0.47172	.	0.376195	0.33127	N	0.005259	T	0.45135	0.1327	M	0.64567	1.98	0.50467	D	0.999871	B;B	0.19073	0.033;0.025	B;B	0.18561	0.013;0.022	T	0.42050	-0.9474	10	0.38643	T	0.18	-12.1889	12.8216	0.57696	0.0:0.8667:0.0:0.1333	.	235;282	Q96BW5-2;Q96BW5	.;PTER_HUMAN	C	282;282;235;282;282	ENSP00000439485:R282C;ENSP00000389535:R235C;ENSP00000367239:R282C;ENSP00000298942:R282C	ENSP00000298942:R282C	R	+	1	0	PTER	16593055	1.000000	0.71417	0.997000	0.53966	0.828000	0.46876	2.439000	0.44846	1.521000	0.48983	0.637000	0.83480	CGT		0.413	PTER-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047001.2	NM_030664	
SKIDA1	387640	broad.mit.edu	37	10	21804682	21804682	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:21804682T>C	ENST00000449193.2	-	4	4322	c.2070A>G	c.(2068-2070)gaA>gaG	p.E690E	SKIDA1_ENST00000444772.3_Silent_p.E611E	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	609						nucleus (GO:0005634)		p.E690E(2)									CACTACTGTCTTCTACTTTGA	0.418																																					p.E690E												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A2070G	10						.						97.0	100.0	99.0					10																	21804682		1927	4130	6057	21844688	SO:0001819	synonymous_variant	387640	exon4			AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.2070A>G	10.37:g.21804682T>C			21844688	NM_207371	B1ANA5|Q6ZMX4|Q8N3C3	Silent	SNP	ENST00000449193.2	37	CCDS44363.1																																																																																				0.418	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371	
BMI1	648	broad.mit.edu	37	10	22615476	22615476	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:22615476A>T	ENST00000376663.3	+	2	603	c.98A>T	c.(97-99)gAa>gTa	p.E33V	COMMD3-BMI1_ENST00000602390.1_Missense_Mutation_p.E176V	NM_005180.8	NP_005171.4	P35226	BMI1_HUMAN	BMI1 proto-oncogene, polycomb ring finger	33					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|regulation of gene expression (GO:0010468)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|ubiquitin ligase complex (GO:0000151)	RING-like zinc finger domain binding (GO:0071535)|zinc ion binding (GO:0008270)	p.E33V(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						ACCATAATAGAATGTCTACAT	0.408																																					p.E33V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A98T	10						.						213.0	190.0	198.0					10																	22615476		2203	4300	6503	22655482	SO:0001583	missense	648	exon2			BC011652	CCDS7138.1	10p13	2014-06-26	2014-06-26	2006-04-26	ENSG00000168283	ENSG00000168283		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	1066	protein-coding gene	gene with protein product		164831	"""polycomb group ring finger 4"", ""B lymphoma Mo-MLV insertion region 1 homolog (mouse)"""	PCGF4		8268912	Standard	NM_005180		Approved	RNF51		P35226	OTTHUMG00000017807	ENST00000376663.3:c.98A>T	10.37:g.22615476A>T	ENSP00000365851:p.Glu33Val		22655482	NM_005180	Q16030|Q5T8Z3|Q96F37	Missense_Mutation	SNP	ENST00000376663.3	37	CCDS7138.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.229321	0.79688	.	.	ENSG00000168283	ENST00000417470;ENST00000376691;ENST00000376663;ENST00000442508;ENST00000456675;ENST00000416820;ENST00000443519	D;D;D;T	0.87729	-2.29;-2.29;-2.29;-0.3	5.67	5.67	0.87782	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.93657	0.7974	M	0.83312	2.635	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.996	D	0.94468	0.7682	10	0.87932	D	0	-19.573	14.8987	0.70661	1.0:0.0:0.0:0.0	.	33;33	Q5U0M5;P35226	.;BMI1_HUMAN	V	33;17;33;33;33;33;10	ENSP00000365851:E33V;ENSP00000397912:E33V;ENSP00000399220:E33V;ENSP00000390768:E10V	ENSP00000365851:E33V	E	+	2	0	BMI1	22655482	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.222000	0.95196	2.171000	0.68590	0.528000	0.53228	GAA		0.408	BMI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047176.1	NM_005180	
PIP4K2A	5305	broad.mit.edu	37	10	22828956	22828956	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:22828956T>C	ENST00000376573.4	-	9	1312	c.1084A>G	c.(1084-1086)Act>Gct	p.T362A	PIP4K2A_ENST00000323883.7_Missense_Mutation_p.T222A|PIP4K2A_ENST00000545335.1_Missense_Mutation_p.T303A	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	362	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				megakaryocyte development (GO:0035855)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)	p.T362A(1)		endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						TCATAATGAGTAAGGATGTCA	0.453																																					p.T362A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1084G	10						.						187.0	169.0	175.0					10																	22828956		2203	4300	6503	22868962	SO:0001583	missense	5305	exon9			S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867			8997	protein-coding gene	gene with protein product		603140	"""phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"""	PIP5K2A		7852364, 9367159	Standard	NM_005028		Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.1084A>G	10.37:g.22828956T>C	ENSP00000365757:p.Thr362Ala		22868962	NM_005028	B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	Missense_Mutation	SNP	ENST00000376573.4	37	CCDS7141.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.404929	0.83230	.	.	ENSG00000150867	ENST00000376573;ENST00000323883;ENST00000545335	T;T;T	0.37411	1.2;1.2;1.2	5.91	5.91	0.95273	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.103795	0.64402	D	0.000001	T	0.72993	0.3530	H	0.97365	3.99	0.58432	D	0.999993	D;D	0.60575	0.968;0.988	D;D	0.65573	0.933;0.936	T	0.83109	-0.0124	10	0.62326	D	0.03	-27.8118	16.3351	0.83056	0.0:0.0:0.0:1.0	.	222;362	B4DH09;P48426	.;PI42A_HUMAN	A	362;222;303	ENSP00000365757:T362A;ENSP00000326294:T222A;ENSP00000442098:T303A	ENSP00000326294:T222A	T	-	1	0	PIP4K2A	22868962	1.000000	0.71417	0.975000	0.42487	0.999000	0.98932	3.204000	0.51082	2.262000	0.75019	0.528000	0.53228	ACT		0.453	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047193.1	NM_005028	
KIAA1217	56243	broad.mit.edu	37	10	24833362	24833362	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:24833362T>C	ENST00000376454.3	+	19	5193	c.5163T>C	c.(5161-5163)ggT>ggC	p.G1721G	KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376451.2_Silent_p.G1404G|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396445.1_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1721					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)		p.G1721G(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CGGATGAAGGTCCCACTGCCC	0.502																																					p.G1721G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T5163C	10						.						72.0	72.0	72.0					10																	24833362		2203	4300	6503	24873368	SO:0001819	synonymous_variant	56243	exon19			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.5163T>C	10.37:g.24833362T>C			24873368	NM_019590	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	37	CCDS31165.1																																																																																				0.502	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590	
GPR158	57512	broad.mit.edu	37	10	25888009	25888009	+	Missense_Mutation	SNP	C	C	T	rs368132351	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:25888009C>T	ENST00000376351.3	+	11	3813	c.3454C>T	c.(3454-3456)Cgt>Tgt	p.R1152C	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1152					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R1152C(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GGAGAATGTGCGTGGCTCCTA	0.443													C|||	2	0.000399361	0.0	0.0	5008	,	,		19677	0.001		0.0	False		,,,				2504	0.001				p.R1152C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3454T	10						.	C	CYS/ARG	0,4406		0,0,2203	80.0	81.0	80.0		3454	5.7	0.9	10		80	1,8599	1.2+/-3.3	0,1,4299	no	missense	GPR158	NM_020752.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	1152/1216	25888009	1,13005	2203	4300	6503	25928015	SO:0001583	missense	57512	exon11			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.3454C>T	10.37:g.25888009C>T	ENSP00000365529:p.Arg1152Cys		25928015	NM_020752	Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069199	0.36470	0.0	1.16E-4	ENSG00000151025	ENST00000376351	T	0.61158	0.13	5.74	5.74	0.90152	.	0.307287	0.28290	N	0.015895	T	0.33789	0.0875	N	0.08118	0	0.40974	D	0.984729	P	0.46327	0.876	B	0.34452	0.183	T	0.43507	-0.9387	10	0.56958	D	0.05	.	13.1669	0.59575	0.0:0.9273:0.0:0.0727	.	1152	Q5T848	GP158_HUMAN	C	1152	ENSP00000365529:R1152C	ENSP00000365529:R1152C	R	+	1	0	GPR158	25928015	0.980000	0.34600	0.880000	0.34516	0.463000	0.32649	2.593000	0.46180	2.695000	0.91970	0.655000	0.94253	CGT		0.443	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110	
PTCHD3	374308	broad.mit.edu	37	10	27702775	27702775	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:27702775G>A	ENST00000438700.3	-	1	522	c.405C>T	c.(403-405)ggC>ggT	p.G135G		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	135					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)	p.G135G(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						AGGGGTGCGCGCCCACCTGCC	0.672																																					p.G135G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C405T	10						.						27.0	31.0	30.0					10																	27702775		2203	4299	6502	27742781	SO:0001819	synonymous_variant	374308	exon1			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.405C>T	10.37:g.27702775G>A			27742781	NM_001034842	I3L499|Q6ZU28	Silent	SNP	ENST00000438700.3	37	CCDS31173.1																																																																																				0.672	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541	
MAP3K8	1326	broad.mit.edu	37	10	30739282	30739282	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:30739282T>C	ENST00000263056.1	+	5	1296	c.600T>C	c.(598-600)ggT>ggC	p.G200G	MAP3K8_ENST00000375321.1_Silent_p.G200G|MAP3K8_ENST00000542547.1_Silent_p.G200G	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	200	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|protein phosphorylation (GO:0006468)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)	p.G200G(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				TCCTGTGGGGTGAAACTGTCC	0.488																																					p.G200G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T600C	10						.						123.0	119.0	121.0					10																	30739282		2203	4300	6503	30779288	SO:0001819	synonymous_variant	1326	exon5			D14497	CCDS7166.1	10p11.2	2011-06-09			ENSG00000107968	ENSG00000107968		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6860	protein-coding gene	gene with protein product		191195		COT, ESTF		2072910, 8479752	Standard	NM_005204		Approved	Tpl-2, EST, c-COT, MEKK8	uc009xlf.2	P41279	OTTHUMG00000017889	ENST00000263056.1:c.600T>C	10.37:g.30739282T>C			30779288	NM_005204	A8K2Q5|D3DRX1|Q14275|Q5T855|Q9HC81	Silent	SNP	ENST00000263056.1	37	CCDS7166.1	.	.	.	.	.	.	.	.	.	.	T	11.09	1.536341	0.27475	.	.	ENSG00000107968	ENST00000430603	.	.	.	5.33	-9.15	0.00698	.	.	.	.	.	T	0.34077	0.0885	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40905	-0.9538	4	.	.	.	.	2.1703	0.03847	0.1925:0.3742:0.1966:0.2367	.	.	.	.	A	121	.	.	V	+	2	0	MAP3K8	30779288	0.790000	0.28787	0.469000	0.27204	0.912000	0.54170	-0.209000	0.09358	-1.648000	0.01510	-0.297000	0.09499	GTG		0.488	MAP3K8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047416.2	NM_005204	
ITGB1	3688	broad.mit.edu	37	10	33200577	33200577	+	Missense_Mutation	SNP	C	C	T	rs201856355		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:33200577C>T	ENST00000396033.2	-	13	1865	c.1730G>A	c.(1729-1731)cGt>cAt	p.R577H	ITGB1_ENST00000423113.1_Missense_Mutation_p.R577H|ITGB1_ENST00000302278.3_Missense_Mutation_p.R577H|ITGB1_ENST00000374956.4_Missense_Mutation_p.R577H	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	577	Cysteine-rich tandem repeats.				axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)	p.R577H(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	CTCACACACACGACACTTGCA	0.408																																					p.R577H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1730A	10						.						161.0	161.0	161.0					10																	33200577		2203	4300	6503	33240583	SO:0001583	missense	3688	exon13			BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.1730G>A	10.37:g.33200577C>T	ENSP00000379350:p.Arg577His		33240583	NM_133376	A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	ENST00000396033.2	37	CCDS7174.1	.	.	.	.	.	.	.	.	.	.	C	34	5.355598	0.95854	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956	D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07	5.92	5.92	0.95590	EGF, extracellular (1);	0.000000	0.85682	D	0.000000	D	0.95937	0.8677	M	0.70275	2.135	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.999	D;P;D;P;D	0.72338	0.97;0.891;0.977;0.825;0.97	D	0.95690	0.8739	10	0.87932	D	0	.	20.3206	0.98668	0.0:1.0:0.0:0.0	.	577;577;577;577;577	P05556-2;P05556;P05556-5;P05556-3;P05556-4	.;ITB1_HUMAN;.;.;.	H	577	ENSP00000379350:R577H;ENSP00000388694:R577H;ENSP00000303351:R577H;ENSP00000364094:R577H	ENSP00000303351:R577H	R	-	2	0	ITGB1	33240583	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.604000	0.82830	2.809000	0.96659	0.655000	0.94253	CGT		0.408	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211	
GJD4	219770	broad.mit.edu	37	10	35896564	35896564	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:35896564G>A	ENST00000321660.1	+	2	281	c.123G>A	c.(121-123)ggG>ggA	p.G41G	RP11-425A6.5_ENST00000609313.1_RNA	NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa	41					cell communication (GO:0007154)|regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014717)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.G41G(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TCTTGGCGGGGCGACCCGTCT	0.602																																					p.G41G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G123A	10						.						92.0	80.0	84.0					10																	35896564		2203	4300	6503	35936570	SO:0001819	synonymous_variant	219770	exon2			AJ414564	CCDS7191.1	10p11.22	2007-11-27			ENSG00000177291	ENSG00000177291		"""Ion channels / Gap junction proteins (connexins)"""	23296	protein-coding gene	gene with protein product	"""connexin 40.1"""	611922				12477932	Standard	NM_153368		Approved	CX40.1, FLJ90023	uc001iyy.1	Q96KN9	OTTHUMG00000017957	ENST00000321660.1:c.123G>A	10.37:g.35896564G>A			35936570	NM_153368	Q8N2R7	Silent	SNP	ENST00000321660.1	37	CCDS7191.1																																																																																				0.602	GJD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047576.1	NM_153368	
ANKRD30A	91074	broad.mit.edu	37	10	37490213	37490213	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:37490213A>G	ENST00000602533.1	+	31	2760	c.2661A>G	c.(2659-2661)acA>acG	p.T887T	ANKRD30A_ENST00000374660.1_Silent_p.T1006T|ANKRD30A_ENST00000361713.1_Silent_p.T887T			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	943					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T887T(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CCAAGGCTACACATCAAAAAG	0.308																																					p.T887T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2661G	10						.						88.0	83.0	85.0					10																	37490213		1805	4059	5864	37530219	SO:0001819	synonymous_variant	91074	exon31			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.2661A>G	10.37:g.37490213A>G			37530219	NM_052997	Q5W025	Silent	SNP	ENST00000602533.1	37																																																																																					0.308	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997	
CXCL12	6387	broad.mit.edu	37	10	44871476	44871476	+	Intron	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:44871476G>A	ENST00000374429.2	-	3	353				AL137026.1_ENST00000593376.1_5'Flank|CXCL12_ENST00000496375.1_5'Flank|CXCL12_ENST00000395793.3_Intron|CXCL12_ENST00000374426.2_Missense_Mutation_p.R91C|CXCL12_ENST00000395795.4_Intron	NM_000609.5|NM_001277990.1	NP_000600.1|NP_001264919.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12						adult locomotory behavior (GO:0008344)|ameboidal cell migration (GO:0001667)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|motor neuron axon guidance (GO:0008045)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of leukocyte tethering or rolling (GO:1903237)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|patterning of blood vessels (GO:0001569)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell adhesion (GO:0045785)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of T cell migration (GO:2000406)|regulation of actin polymerization or depolymerization (GO:0008064)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)|telencephalon cell migration (GO:0022029)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)|CXCR chemokine receptor binding (GO:0045236)|receptor binding (GO:0005102)	p.R91S(1)|p.R91C(1)		endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Tinzaparin(DB06822)	TCTTCTCTGCGCCCCCTTAGA	0.383																																					p.R91C												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C271T	10						.						154.0	164.0	160.0					10																	44871476		2203	4299	6502	44191482	SO:0001627	intron_variant	6387	exon4			L36033	CCDS7207.1, CCDS31186.1, CCDS44373.1, CCDS53527.1, CCDS60518.1	10q11.1	2013-02-28	2010-05-11	2002-08-23	ENSG00000107562	ENSG00000107562		"""Endogenous ligands"""	10672	protein-coding gene	gene with protein product		600835	"""stromal cell-derived factor 1"""	SDF1A, SDF1B, SDF1		7490086	Standard	NM_001033886		Approved	SCYB12, SDF-1a, SDF-1b, PBSF, TLSF-a, TLSF-b, TPAR1	uc021ppm.1	P48061	OTTHUMG00000018054	ENST00000374429.2:c.266+2608C>T	10.37:g.44871476G>A			44191482	NM_001033886	B2R4G0|E7EVL0|H7BYN8|Q2L985|Q2L986|Q2L988|Q5IT36|Q6ICW0|Q9H554	Missense_Mutation	SNP	ENST00000374429.2	37	CCDS44373.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512805	0.44660	.	.	ENSG00000107562	ENST00000374426	T	0.24538	1.85	5.85	4.94	0.65067	.	.	.	.	.	T	0.25344	0.0616	.	.	.	0.80722	D	1	P	0.45569	0.861	B	0.40101	0.319	T	0.03423	-1.1038	8	0.59425	D	0.04	.	12.3489	0.55136	0.0:0.0:0.8312:0.1688	.	91	P48061-3	.	C	91	ENSP00000363548:R91C	ENSP00000363548:R91C	R	-	1	0	CXCL12	44191482	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	2.082000	0.41605	1.466000	0.48025	0.655000	0.94253	CGC		0.383	CXCL12-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047738.2	NM_000609	
OR13A1	79290	broad.mit.edu	37	10	45799032	45799032	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:45799032G>A	ENST00000553795.1	-	4	1147	c.839C>T	c.(838-840)cCg>cTg	p.P280L	OR13A1_ENST00000374401.2_Missense_Mutation_p.P280L|OR13A1_ENST00000536058.1_Missense_Mutation_p.P280L	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P280L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						GCCAGAGACCGGGCTTATGTA	0.552																																					p.P280L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C839T	10						.						75.0	69.0	71.0					10																	45799032		2203	4300	6503	45119038	SO:0001583	missense	79290	exon4			AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"""GPCR / Class A : Olfactory receptors"""	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.839C>T	10.37:g.45799032G>A	ENSP00000451950:p.Pro280Leu		45119038	NM_001004297	Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Missense_Mutation	SNP	ENST00000553795.1	37	CCDS31188.1	.	.	.	.	.	.	.	.	.	.	g	13.00	2.107086	0.37145	.	.	ENSG00000256574	ENST00000553795;ENST00000536058;ENST00000374401	T;T;T	0.00279	8.33;8.33;8.33	5.78	4.88	0.63580	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45361	D	0.000368	T	0.00754	0.0025	M	0.84585	2.705	0.49483	D	0.99979	D	0.89917	1.0	D	0.87578	0.998	T	0.69011	-0.5258	10	0.87932	D	0	-47.8116	12.6633	0.56826	0.0797:0.0:0.9203:0.0	.	280	Q8NGR1	O13A1_HUMAN	L	280	ENSP00000451950:P280L;ENSP00000438657:P280L;ENSP00000363522:P280L	ENSP00000311379:P280L	P	-	2	0	OR13A1	45119038	0.956000	0.32656	0.879000	0.34478	0.088000	0.18126	2.609000	0.46317	1.450000	0.47717	-0.141000	0.14075	CCG		0.552	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047779.2	NM_001004297	
ZNF488	118738	broad.mit.edu	37	10	48371037	48371037	+	Nonsense_Mutation	SNP	C	C	T	rs554619108		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:48371037C>T	ENST00000395702.2	+	2	732	c.505C>T	c.(505-507)Cga>Tga	p.R169*	ZNF488_ENST00000586537.1_Nonsense_Mutation_p.R62*|ZNF488_ENST00000494156.1_3'UTR			Q96MN9	ZN488_HUMAN	zinc finger protein 488	169					negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte development (GO:0014003)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R169*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						ACCAACCAAGCGACCAGCAGA	0.587																																					p.R169X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C505T	10						.						71.0	69.0	70.0					10																	48371037		2203	4300	6503	47991043	SO:0001587	stop_gained	118738	exon2			AK056666	CCDS73120.1	10q11.22	2014-04-10			ENSG00000165388	ENSG00000265763		"""Zinc fingers, C2H2-type"""	23535	protein-coding gene	gene with protein product							Standard	NM_153034		Approved	FLJ32104	uc001jex.3	Q96MN9	OTTHUMG00000188322	ENST00000395702.2:c.505C>T	10.37:g.48371037C>T	ENSP00000379054:p.Arg169*		47991043	NM_153034	Q05CE0	Nonsense_Mutation	SNP	ENST00000395702.2	37	CCDS7217.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.497127	0.64186	.	.	ENSG00000165388	ENST00000395702	.	.	.	5.55	-4.21	0.03812	.	1.052760	0.07456	N	0.899755	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	3.7128	0.08427	0.6246:0.0981:0.1265:0.1509	.	.	.	.	X	169	.	ENSP00000379054:R169X	R	+	1	2	ZNF488	47991043	0.485000	0.25972	0.000000	0.03702	0.291000	0.27294	-0.025000	0.12413	-1.122000	0.02945	-0.268000	0.10319	CGA		0.587	ZNF488-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314632.1	NM_153034	
SLC18A3	6572	broad.mit.edu	37	10	50819397	50819397	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:50819397A>G	ENST00000374115.3	+	1	1051	c.611A>G	c.(610-612)tAc>tGc	p.Y204C	CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	204					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)	p.Y204C(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GCCGATAAGTACCCGGAGGAG	0.667																																					p.Y204C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A611G	10						.						28.0	33.0	32.0					10																	50819397		2203	4299	6502	50489403	SO:0001583	missense	6572	exon1			BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.611A>G	10.37:g.50819397A>G	ENSP00000363229:p.Tyr204Cys		50489403	NM_003055	B2R7S1	Missense_Mutation	SNP	ENST00000374115.3	37	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	A	15.90	2.970338	0.53614	.	.	ENSG00000187714	ENST00000374115	T	0.59083	0.29	5.13	3.92	0.45320	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	U	0.000008	T	0.76478	0.3993	M	0.89478	3.035	0.42892	D	0.994206	D	0.76494	0.999	D	0.68353	0.957	T	0.81185	-0.1048	10	0.87932	D	0	-7.0801	10.8212	0.46606	0.8584:0.0:0.0:0.1415	.	204	Q16572	VACHT_HUMAN	C	204	ENSP00000363229:Y204C	ENSP00000363229:Y204C	Y	+	2	0	SLC18A3	50489403	1.000000	0.71417	0.995000	0.50966	0.697000	0.40408	4.789000	0.62446	1.924000	0.55735	0.459000	0.35465	TAC		0.667	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055	
OGDHL	55753	broad.mit.edu	37	10	50951015	50951015	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:50951015C>T	ENST00000374103.4	-	15	1956	c.1871G>A	c.(1870-1872)cGc>cAc	p.R624H	OGDHL_ENST00000419399.1_Missense_Mutation_p.R567H|OGDHL_ENST00000432695.1_Missense_Mutation_p.R415H	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	624					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.R624H(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CCGCAGAATGCGAGAGAGGCC	0.642																																					p.R567H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1700A	10						.						49.0	45.0	46.0					10																	50951015		2203	4300	6503	50621021	SO:0001583	missense	55753	exon14			AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1871G>A	10.37:g.50951015C>T	ENSP00000363216:p.Arg624His		50621021	NM_001143996	A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	c	27.5	4.837953	0.91117	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	T;T;T	0.07688	3.17;3.19;3.22	5.22	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.39572	0.1083	H	0.94264	3.515	0.58432	D	0.99999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.994;0.996	T	0.56565	-0.7958	10	0.87932	D	0	.	14.0685	0.64847	0.0:0.9269:0.0:0.0731	.	567;415;624	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	H	624;567;415	ENSP00000363216:R624H;ENSP00000401356:R567H;ENSP00000390240:R415H	ENSP00000363216:R624H	R	-	2	0	OGDHL	50621021	1.000000	0.71417	0.987000	0.45799	0.813000	0.45954	5.888000	0.69758	1.327000	0.45338	0.651000	0.88453	CGC		0.642	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245	
OGDHL	55753	broad.mit.edu	37	10	50952143	50952143	+	Silent	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:50952143G>T	ENST00000374103.4	-	14	1843	c.1758C>A	c.(1756-1758)ccC>ccA	p.P586P	OGDHL_ENST00000419399.1_Silent_p.P529P|OGDHL_ENST00000432695.1_Silent_p.P377P	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	586					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.P586P(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TCATGCTCTTGGGCTCCCCAT	0.607																																					p.P529P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1587A	10						.						106.0	86.0	93.0					10																	50952143		2203	4300	6503	50622149	SO:0001819	synonymous_variant	55753	exon13			AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1758C>A	10.37:g.50952143G>T			50622149	NM_001143996	A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Silent	SNP	ENST00000374103.4	37	CCDS7234.1																																																																																				0.607	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245	
OGDHL	55753	broad.mit.edu	37	10	50955201	50955201	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:50955201G>A	ENST00000374103.4	-	9	1126	c.1041C>T	c.(1039-1041)cgC>cgT	p.R347R	OGDHL_ENST00000419399.1_Silent_p.R290R|OGDHL_ENST00000432695.1_Silent_p.R138R	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	347					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.R347R(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GGTTGGTGACGCGGTTGATCC	0.587																																					p.R290R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C870T	10						.						288.0	240.0	256.0					10																	50955201		2203	4300	6503	50625207	SO:0001819	synonymous_variant	55753	exon8			AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1041C>T	10.37:g.50955201G>A			50625207	NM_001143996	A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Silent	SNP	ENST00000374103.4	37	CCDS7234.1																																																																																				0.587	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245	
NCOA4	8031	broad.mit.edu	37	10	51585229	51585229	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:51585229C>A	ENST00000443446.1	+	8	1557	c.1328C>A	c.(1327-1329)cCt>cAt	p.P443H	NCOA4_ENST00000452682.1_Missense_Mutation_p.P459H|NCOA4_ENST00000430396.2_Missense_Mutation_p.P343H|NCOA4_ENST00000374082.1_Missense_Mutation_p.P443H|NCOA4_ENST00000374087.4_Missense_Mutation_p.P443H|NCOA4_ENST00000414907.2_Missense_Mutation_p.P277H|NCOA4_ENST00000344348.6_Missense_Mutation_p.P443H|NCOA4_ENST00000438493.1_Missense_Mutation_p.P459H	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	443					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)	p.P459H(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						AATGGGATGCCTGTGGAACCC	0.428			T	RET	papillary thyroid																																p.P459H			Dom	yes		10	10q11.2	8031	nuclear receptor coactivator 4 - PTC3 (ELE1)		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1376A	10						.						96.0	107.0	103.0					10																	51585229		2203	4300	6503	51255235	SO:0001583	missense	8031	exon9			L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"""RET-activating gene ELE1"""	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.1328C>A	10.37:g.51585229C>A	ENSP00000390713:p.Pro443His		51255235	NM_001145261	A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	ENST00000443446.1	37	CCDS7237.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.430071	0.43122	.	.	ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000430396;ENST00000374087;ENST00000414907;ENST00000344348;ENST00000374082;ENST00000443446	T;T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.6	2.69	0.31865	.	0.218917	0.48767	D	0.000173	T	0.49695	0.1572	M	0.71581	2.175	0.25790	N	0.984622	D;D;D;D	0.65815	0.995;0.991;0.991;0.983	P;P;P;P	0.54499	0.754;0.671;0.751;0.671	T	0.40720	-0.9548	9	.	.	.	-13.211	6.8101	0.23799	0.0:0.6695:0.1259:0.2046	.	343;459;459;443	B4DF87;B4E260;E9PAV7;Q13772	.;.;.;NCOA4_HUMAN	H	459;459;343;443;277;443;443;443	ENSP00000405146:P459H;ENSP00000395465:P459H;ENSP00000393053:P343H;ENSP00000363200:P443H;ENSP00000411018:P277H;ENSP00000344552:P443H;ENSP00000363195:P443H;ENSP00000390713:P443H	.	P	+	2	0	NCOA4	51255235	0.927000	0.31430	0.861000	0.33841	0.722000	0.41435	2.256000	0.43231	0.721000	0.32231	-0.182000	0.12963	CCT		0.428	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437	
PCDH15	65217	broad.mit.edu	37	10	55973754	55973754	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:55973754A>C	ENST00000320301.6	-	10	1434	c.1040T>G	c.(1039-1041)cTt>cGt	p.L347R	PCDH15_ENST00000414778.1_Missense_Mutation_p.L352R|PCDH15_ENST00000395442.1_Missense_Mutation_p.L347R|PCDH15_ENST00000395446.1_Missense_Mutation_p.L347R|PCDH15_ENST00000395432.2_Missense_Mutation_p.L310R|PCDH15_ENST00000395433.1_Missense_Mutation_p.L325R|PCDH15_ENST00000395438.1_Missense_Mutation_p.L347R|PCDH15_ENST00000373965.2_Missense_Mutation_p.L347R|PCDH15_ENST00000373955.1_Missense_Mutation_p.L347R|PCDH15_ENST00000395445.1_Missense_Mutation_p.L347R|PCDH15_ENST00000361849.3_Missense_Mutation_p.L347R|PCDH15_ENST00000437009.1_Missense_Mutation_p.L347R|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.L347R|PCDH15_ENST00000373957.3_Missense_Mutation_p.L325R|PCDH15_ENST00000395440.1_Missense_Mutation_p.L347R	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	347	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.L352R(2)|p.L347R(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAGGAGACTAAGTTCTGCTGT	0.363										HNSCC(58;0.16)																											p.L310R												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.T929G	10						.						88.0	89.0	89.0					10																	55973754		2203	4300	6503	55643760	SO:0001583	missense	65217	exon9			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1040T>G	10.37:g.55973754A>C	ENSP00000322604:p.Leu347Arg		55643760	NM_001142767	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.943138	0.73672	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4;0.4;1.7;0.4;0.4;0.4;0.4;0.4;0.4;0.4	4.99	4.99	0.66335	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.74199	0.3685	M	0.82323	2.585	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.999;1.0;1.0;0.998;0.998;0.998;0.998;0.999;0.999;0.998;0.998	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.87578	0.998;0.969;0.969;0.985;0.987;0.98;0.998;0.98;0.969;0.969;0.973;0.989;0.991;0.964;0.969	T	0.79165	-0.1916	9	0.87932	D	0	.	14.6174	0.68558	1.0:0.0:0.0:0.0	.	325;347;347;352;347;310;347;347;347;347;347;352;347;325;347	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	R	347;352;347;347;347;347;347;347;310;347;325;325;347;347;352;347;347	ENSP00000363076:L347R;ENSP00000410304:L352R;ENSP00000378826:L347R;ENSP00000378832:L347R;ENSP00000378833:L347R;ENSP00000378829:L347R;ENSP00000378827:L347R;ENSP00000378820:L310R;ENSP00000354950:L347R;ENSP00000378821:L325R;ENSP00000363068:L325R;ENSP00000322604:L347R;ENSP00000378818:L347R;ENSP00000412628:L347R;ENSP00000363066:L347R	ENSP00000322604:L347R	L	-	2	0	PCDH15	55643760	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	6.592000	0.74095	1.998000	0.58463	0.455000	0.32223	CTT		0.363	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	
FAM13C	220965	broad.mit.edu	37	10	61112204	61112204	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:61112204G>A	ENST00000373868.2	-	3	237	c.150C>T	c.(148-150)gaC>gaT	p.D50D	FAM13C_ENST00000419214.2_Silent_p.D50D|FAM13C_ENST00000468840.2_De_novo_Start_OutOfFrame|FAM13C_ENST00000442566.3_Silent_p.D50D|FAM13C_ENST00000435852.2_Silent_p.D50D|FAM13C_ENST00000422313.2_Silent_p.D50D|FAM13C_ENST00000277705.6_Silent_p.D50D|FAM13C_ENST00000373867.3_De_novo_Start_OutOfFrame	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	50								p.D50D(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GAGCCCCTGCGTCGGGGTAGT	0.507																																					p.D50D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C150T	10						.						26.0	29.0	28.0					10																	61112204		2203	4300	6503	60782210	SO:0001819	synonymous_variant	220965	exon3			U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.150C>T	10.37:g.61112204G>A			60782210	NM_001001971	B7ZB77|Q5T631|Q6P2M3|Q99787	De_novo_Start_OutOfFrame	SNP	ENST00000373868.2	37	CCDS7255.1																																																																																				0.507	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2		
ARID5B	84159	broad.mit.edu	37	10	63851254	63851254	+	Missense_Mutation	SNP	C	C	A	rs371998179		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:63851254C>A	ENST00000279873.7	+	10	2442	c.2032C>A	c.(2032-2034)Ctc>Atc	p.L678I	ARID5B_ENST00000309334.5_Missense_Mutation_p.L435I	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	678					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)	p.L678I(1)		NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CACGCCCCTGCTCTACTCTAG	0.537																																					p.L678I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2032A	10						.						59.0	54.0	56.0					10																	63851254		2203	4300	6503	63521260	SO:0001583	missense	84159	exon10			M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.2032C>A	10.37:g.63851254C>A	ENSP00000279873:p.Leu678Ile		63521260	NM_032199	B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.256268	0.59321	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.53423	0.65;0.62	5.87	5.87	0.94306	.	0.116139	0.64402	D	0.000012	T	0.66356	0.2781	M	0.65975	2.015	0.80722	D	1	D	0.76494	0.999	P	0.61070	0.883	T	0.64257	-0.6450	10	0.48119	T	0.1	-16.0136	20.2033	0.98269	0.0:1.0:0.0:0.0	.	678	Q14865	ARI5B_HUMAN	I	678;435	ENSP00000279873:L678I;ENSP00000308862:L435I	ENSP00000279873:L678I	L	+	1	0	ARID5B	63521260	1.000000	0.71417	1.000000	0.80357	0.154000	0.21943	3.025000	0.49681	2.779000	0.95612	0.655000	0.94253	CTC		0.537	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482	
ARID5B	84159	broad.mit.edu	37	10	63852414	63852414	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:63852414C>T	ENST00000279873.7	+	10	3602	c.3192C>T	c.(3190-3192)ggC>ggT	p.G1064G	ARID5B_ENST00000309334.5_Silent_p.G821G	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1064					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)	p.G1064G(1)		NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					ATTCCGGGGGCGGATCAGAAG	0.612																																					p.G1064G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3192T	10						.						70.0	69.0	69.0					10																	63852414		2203	4300	6503	63522420	SO:0001819	synonymous_variant	84159	exon10			M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.3192C>T	10.37:g.63852414C>T			63522420	NM_032199	B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Silent	SNP	ENST00000279873.7	37	CCDS31208.1																																																																																				0.612	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482	
CTNNA3	29119	broad.mit.edu	37	10	68940172	68940172	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:68940172G>A	ENST00000433211.2	-	7	1124	c.950C>T	c.(949-951)tCt>tTt	p.S317F	CTNNA3_ENST00000373744.4_Missense_Mutation_p.S317F|CTNNA3_ENST00000545309.1_Missense_Mutation_p.S317F	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.S317F(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CGTACATGAAGAATCCGCCAG	0.493																																					p.S317F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C950T	10						.						145.0	129.0	134.0					10																	68940172		2203	4300	6503	68610178	SO:0001583	missense	29119	exon7			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.950C>T	10.37:g.68940172G>A	ENSP00000389714:p.Ser317Phe		68610178	NM_013266		Missense_Mutation	SNP	ENST00000433211.2	37	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689906	0.88735	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309	T;T;T	0.39229	1.09;1.09;1.09	5.83	5.83	0.93111	.	0.000000	0.50627	D	0.000115	T	0.64571	0.2610	M	0.64997	1.995	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;1.0;1.0;0.997	D;D;D;D	0.91635	0.999;0.999;0.994;0.996	T	0.65117	-0.6246	10	0.87932	D	0	-9.6212	18.8814	0.92357	0.0:0.0:1.0:0.0	.	317;317;317;317	A8K141;F2Z2R0;Q9UI47-2;Q9UI47	.;.;.;CTNA3_HUMAN	F	317	ENSP00000389714:S317F;ENSP00000362849:S317F;ENSP00000441444:S317F	ENSP00000362849:S317F	S	-	2	0	CTNNA3	68610178	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	9.869000	0.99810	2.753000	0.94483	0.585000	0.79938	TCT		0.493	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266	
TET1	80312	broad.mit.edu	37	10	70446186	70446186	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:70446186C>A	ENST00000373644.4	+	11	5335	c.5126C>A	c.(5125-5127)cCt>cAt	p.P1709H		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1709					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.P1709H(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CATGTGCTACCTCTTTATAAG	0.478																																					p.P1709H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5126A	10						.						76.0	75.0	76.0					10																	70446186		2203	4300	6503	70116192	SO:0001583	missense	80312	exon11			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.5126C>A	10.37:g.70446186C>A	ENSP00000362748:p.Pro1709His		70116192	NM_030625	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.781247	0.90282	.	.	ENSG00000138336	ENST00000373644	T	0.15952	2.38	5.39	5.39	0.77823	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	0.105652	0.64402	D	0.000003	T	0.49167	0.1541	M	0.84948	2.725	0.52099	D	0.999949	D	0.69078	0.997	D	0.75484	0.986	T	0.55692	-0.8101	10	0.87932	D	0	.	19.1921	0.93671	0.0:1.0:0.0:0.0	.	1709	Q8NFU7	TET1_HUMAN	H	1709	ENSP00000362748:P1709H	ENSP00000362748:P1709H	P	+	2	0	TET1	70116192	1.000000	0.71417	0.293000	0.24932	0.992000	0.81027	7.818000	0.86416	2.553000	0.86117	0.478000	0.44815	CCT		0.478	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625	
UNC5B	219699	broad.mit.edu	37	10	73050693	73050693	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:73050693C>T	ENST00000335350.6	+	9	1537	c.1121C>T	c.(1120-1122)gCg>gTg	p.A374V	UNC5B_ENST00000373192.4_Missense_Mutation_p.A363V	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	374					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)		p.A374V(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						TCAGGGGATGCGGCGCTGTAT	0.667																																					p.A374V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1121T	10						.						126.0	131.0	129.0					10																	73050693		2203	4300	6503	72720699	SO:0001583	missense	219699	exon9			AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.1121C>T	10.37:g.73050693C>T	ENSP00000334329:p.Ala374Val		72720699	NM_170744	Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	C	1.247	-0.619747	0.03636	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.38077	1.18;1.16	5.26	4.13	0.48395	.	0.192141	0.45126	N	0.000398	T	0.06096	0.0158	N	0.00044	-2.455	0.23754	N	0.996936	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.36065	-0.9763	10	0.02654	T	1	-9.8173	10.3055	0.43678	0.0:0.0795:0.0:0.9205	.	363;374	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	V	374;363	ENSP00000334329:A374V;ENSP00000362288:A363V	ENSP00000334329:A374V	A	+	2	0	UNC5B	72720699	1.000000	0.71417	0.959000	0.39883	0.190000	0.23558	5.063000	0.64332	0.856000	0.35383	-0.471000	0.05019	GCG		0.667	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744	
CDH23	64072	broad.mit.edu	37	10	73461952	73461952	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:73461952C>T	ENST00000224721.6	+	22	2591	c.2586C>T	c.(2584-2586)gtC>gtT	p.V862V	CDH23_ENST00000299366.7_Silent_p.V902V	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	857	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.V862V(2)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GCAAAATCGTCGTCTCTGTTA	0.652																																					p.V857V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2571T	10						.						118.0	137.0	130.0					10																	73461952		2125	4202	6327	73131958	SO:0001819	synonymous_variant	64072	exon22			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.2586C>T	10.37:g.73461952C>T			73131958	NM_022124	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37																																																																																					0.652	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836	
DNAJB12	54788	broad.mit.edu	37	10	74096312	74096312	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:74096312G>A	ENST00000444643.2	-	7	1308	c.976C>T	c.(976-978)Cgg>Tgg	p.R326W	DNAJB12_ENST00000461919.1_Missense_Mutation_p.R121W|DNAJB12_ENST00000338820.3_Missense_Mutation_p.R360W|DNAJB12_ENST00000394903.2_Missense_Mutation_p.R360W			Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	326						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.R326W(1)		endometrium(1)|large_intestine(2)|skin(1)	4						CAGTTGTTCCGGAGGTTGGCG	0.542																																					p.R360W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1078T	10						.						151.0	138.0	142.0					10																	74096312		2203	4300	6503	73766318	SO:0001583	missense	54788	exon7			AK000034	CCDS7316.2	10q22	2011-09-02			ENSG00000148719	ENSG00000148719		"""Heat shock proteins / DNAJ (HSP40)"""	14891	protein-coding gene	gene with protein product		608376				11147971	Standard	NM_001002762		Approved	DJ10, FLJ20027	uc001jta.2	Q9NXW2	OTTHUMG00000018436	ENST00000444643.2:c.976C>T	10.37:g.74096312G>A	ENSP00000403313:p.Arg326Trp		73766318	NM_001002762	B7Z7I3|Q9H6H0	Missense_Mutation	SNP	ENST00000444643.2	37		.	.	.	.	.	.	.	.	.	.	G	21.0	4.081374	0.76528	.	.	ENSG00000148719	ENST00000338820;ENST00000394903;ENST00000444643	T;T;T	0.49720	0.77;0.77;0.77	5.92	5.92	0.95590	Domain of unknown function DUF1977, DnaJ-like (1);	0.000000	0.85682	D	0.000000	T	0.66557	0.2801	M	0.67953	2.075	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.68108	-0.5496	10	0.87932	D	0	-11.8693	13.7059	0.62639	0.0:0.0:0.7308:0.2691	.	326;326	Q9NXW2-2;Q9NXW2	.;DJB12_HUMAN	W	360;360;326	ENSP00000345575:R360W;ENSP00000378363:R360W;ENSP00000403313:R326W	ENSP00000345575:R360W	R	-	1	2	DNAJB12	73766318	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.724000	0.47285	2.804000	0.96469	0.655000	0.94253	CGG		0.542	DNAJB12-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048581.2		
PPP3CB	5532	broad.mit.edu	37	10	75227339	75227339	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:75227339C>T	ENST00000360663.5	-	9	1191	c.1080G>A	c.(1078-1080)acG>acA	p.T360T	PPP3CB_ENST00000394828.2_Silent_p.T360T|PPP3CB_ENST00000394829.2_Silent_p.T360T|PPP3CB_ENST00000342558.3_Silent_p.T360T|PPP3CB_ENST00000394822.2_Silent_p.T378T|PPP3CB_ENST00000495897.1_5'UTR|PPP3CB_ENST00000544628.1_5'Flank|PPP3CB_ENST00000545874.1_Silent_p.T274T			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	360					axon extension (GO:0048675)|calcium ion-dependent exocytosis (GO:0017156)|cellular response to drug (GO:0035690)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|learning (GO:0007612)|locomotion involved in locomotory behavior (GO:0031987)|memory (GO:0007613)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of transcription, DNA-templated (GO:0045893)|protein dephosphorylation (GO:0006470)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)|social behavior (GO:0035176)|T cell activation (GO:0042110)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein phosphatase 2B binding (GO:0030346)|protein serine/threonine phosphatase activity (GO:0004722)	p.T23T(1)|p.T360T(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					GTAAAGACCACGTGAAGACAT	0.308																																					p.T360T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1080A	10						.						69.0	65.0	66.0					10																	75227339		2201	4298	6499	74897345	SO:0001819	synonymous_variant	5532	exon9			M29551	CCDS7328.1, CCDS44436.1, CCDS44437.1	10q22.2	2010-03-17	2010-03-05		ENSG00000107758	ENSG00000107758	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9315	protein-coding gene	gene with protein product	"""calcineurin A beta"", ""protein phosphatase 2B, catalytic subunit, beta isoform"""	114106	"""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform"""	CALNB		1659808, 2558868	Standard	XM_005269944		Approved	CALNA2, CNA2, PP2Bbeta	uc001juf.3	P16298	OTTHUMG00000018472	ENST00000360663.5:c.1080G>A	10.37:g.75227339C>T			74897345	NM_001142353	P16299|Q5F2F9|Q8N1F0|Q8N3W4	Silent	SNP	ENST00000360663.5	37	CCDS7328.1																																																																																				0.308	PPP3CB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048669.1	NM_021132	
SYNPO2L	79933	broad.mit.edu	37	10	75406851	75406851	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:75406851C>A	ENST00000394810.2	-	4	2708	c.2559G>T	c.(2557-2559)caG>caT	p.Q853H	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.Q629H	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	853	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)		p.Q629H(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GTTGATAGGGCTGATGCCGCA	0.577																																					p.Q629H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1887T	10						.						62.0	73.0	69.0					10																	75406851		2202	4299	6501	75076857	SO:0001583	missense	79933	exon2			AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.2559G>T	10.37:g.75406851C>A	ENSP00000378289:p.Gln853His		75076857	NM_024875	A5PKV9|Q68A20	Missense_Mutation	SNP	ENST00000394810.2	37	CCDS44438.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.813251	0.50527	.	.	ENSG00000166317	ENST00000372873;ENST00000394810	T;T	0.36520	1.25;1.52	5.08	1.22	0.21188	.	0.000000	0.85682	D	0.000000	T	0.56514	0.1990	M	0.79693	2.465	0.45439	D	0.998415	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.53662	-0.8407	10	0.46703	T	0.11	-12.7906	9.7417	0.40422	0.0:0.7203:0.0:0.2797	.	853;629	Q9H987;Q9H987-2	SYP2L_HUMAN;.	H	629;853	ENSP00000361964:Q629H;ENSP00000378289:Q853H	ENSP00000361964:Q629H	Q	-	3	2	SYNPO2L	75076857	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	2.063000	0.41423	0.062000	0.16340	-0.291000	0.09656	CAG		0.577	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	NM_024875	
DLG5	9231	broad.mit.edu	37	10	79581845	79581845	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:79581845G>A	ENST00000372391.2	-	15	2402	c.2397C>T	c.(2395-2397)agC>agT	p.S799S	DLG5_ENST00000459739.1_5'Flank|DLG5_ENST00000372388.2_Intron	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	799					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)	p.S799S(1)		breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TCCACGAGGAGCTCTGAGGGA	0.507																																					p.S799S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2397T	10						.						57.0	61.0	60.0					10																	79581845		2203	4300	6503	79251851	SO:0001819	synonymous_variant	9231	exon15			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.2397C>T	10.37:g.79581845G>A			79251851	NM_004747	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	ENST00000372391.2	37	CCDS7353.2																																																																																				0.507	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2		
DLG5	9231	broad.mit.edu	37	10	79588681	79588681	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:79588681C>T	ENST00000372391.2	-	13	2253	c.2248G>A	c.(2248-2250)Gct>Act	p.A750T	DLG5_ENST00000372388.2_Missense_Mutation_p.A750T	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	750	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)	p.A750T(1)		breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CCTTCTTTAGCGGCAGGGCTT	0.582																																					p.A750T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2248A	10						.						79.0	61.0	67.0					10																	79588681		2203	4300	6503	79258687	SO:0001583	missense	9231	exon13			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.2248G>A	10.37:g.79588681C>T	ENSP00000361467:p.Ala750Thr		79258687	NM_004747	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	c	20.4	3.985156	0.74474	.	.	ENSG00000151208	ENST00000372391;ENST00000424842;ENST00000372388;ENST00000372392	T;T;T	0.29142	1.58;1.58;1.58	5.17	4.25	0.50352	PDZ/DHR/GLGF (4);	0.000000	0.36519	N	0.002556	T	0.41880	0.1178	M	0.71296	2.17	0.42714	D	0.99365	D;B;D	0.58970	0.984;0.402;0.974	P;B;P	0.51193	0.662;0.301;0.49	T	0.37776	-0.9691	10	0.16896	T	0.51	.	15.14	0.72604	0.1425:0.8575:0.0:0.0	.	640;750;750	Q8TDM6-4;Q8TDM6;Q8TDM6-2	.;DLG5_HUMAN;.	T	750;51;750;299	ENSP00000361467:A750T;ENSP00000394797:A51T;ENSP00000361464:A750T	ENSP00000361464:A750T	A	-	1	0	DLG5	79258687	1.000000	0.71417	0.957000	0.39632	0.899000	0.52679	4.562000	0.60816	1.281000	0.44480	0.561000	0.74099	GCT		0.582	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2		
POLR3A	11128	broad.mit.edu	37	10	79782068	79782068	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:79782068C>T	ENST00000372371.3	-	6	857	c.720G>A	c.(718-720)atG>atA	p.M240I	POLR3A_ENST00000484760.1_5'Flank	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	240					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)	p.M240I(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CTTCTGGGTTCATCAGAAGTA	0.428																																					p.M240I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G720A	10						.						55.0	54.0	54.0					10																	79782068		2203	4300	6503	79452074	SO:0001583	missense	11128	exon6			AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.720G>A	10.37:g.79782068C>T	ENSP00000361446:p.Met240Ile		79452074	NM_007055	Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	37	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.329306	0.41197	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.20738	2.05	4.93	4.93	0.64822	RNA polymerase Rpb1, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.21590	0.0520	L	0.46741	1.465	0.80722	D	1	B	0.23990	0.095	B	0.19946	0.027	T	0.03555	-1.1025	9	.	.	.	-33.3237	18.1457	0.89653	0.0:1.0:0.0:0.0	.	240	O14802	RPC1_HUMAN	I	240	ENSP00000361446:M240I	.	M	-	3	0	POLR3A	79452074	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	7.479000	0.81095	2.290000	0.77057	0.555000	0.69702	ATG		0.428	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055	
CCSER2	54462	broad.mit.edu	37	10	86131210	86131210	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:86131210T>C	ENST00000224756.8	+	2	587	c.402T>C	c.(400-402)tcT>tcC	p.S134S	CCSER2_ENST00000372088.2_Silent_p.S134S|CCSER2_ENST00000359979.4_Silent_p.S134S	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	134					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)		p.S134S(1)									TTGTGTCATCTACAGAGGAGT	0.348																																					p.S134S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T402C	10						.						87.0	82.0	84.0					10																	86131210		2203	4299	6502	86121190	SO:0001819	synonymous_variant	54462	exon2				CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.402T>C	10.37:g.86131210T>C			86121190	NM_018999	B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Silent	SNP	ENST00000224756.8	37	CCDS31235.1																																																																																				0.348	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	NM_018999	
LDB3	11155	broad.mit.edu	37	10	88477876	88477876	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:88477876C>T	ENST00000361373.4	+	10	1853	c.1832C>T	c.(1831-1833)gCc>gTc	p.A611V	LDB3_ENST00000263066.6_Missense_Mutation_p.A501V|LDB3_ENST00000429277.2_Missense_Mutation_p.A616V|LDB3_ENST00000352360.5_Missense_Mutation_p.A354V|LDB3_ENST00000458213.2_Missense_Mutation_p.A501V	NM_007078.2	NP_009009.1			LIM domain binding 3									p.A611V(1)|p.A616V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CCGCTGTGTGCCAAGTGCAAC	0.517																																					p.A616V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1847T	10						.						138.0	127.0	131.0					10																	88477876		2203	4300	6503	88467856	SO:0001583	missense	11155	exon11			AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.1832C>T	10.37:g.88477876C>T	ENSP00000355296:p.Ala611Val		88467856	NM_001171610		Missense_Mutation	SNP	ENST00000361373.4	37	CCDS7377.1	.	.	.	.	.	.	.	.	.	.	C	34	5.403784	0.96051	.	.	ENSG00000122367	ENST00000539402;ENST00000429277;ENST00000458213;ENST00000352360;ENST00000263066;ENST00000361373	D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46	5.79	5.79	0.91817	Zinc finger, LIM-type (5);	0.000000	0.32372	N	0.006199	D	0.92492	0.7616	L	0.56199	1.76	0.80722	D	1	D;D;P;D	0.56746	0.977;0.971;0.616;0.971	P;P;P;P	0.59703	0.862;0.725;0.753;0.783	D	0.91879	0.5514	10	0.51188	T	0.08	.	20.04	0.97581	0.0:1.0:0.0:0.0	.	616;354;611;501	B4E3K3;O75112-3;O75112;O75112-2	.;.;LDB3_HUMAN;.	V	532;616;501;354;501;611	ENSP00000401437:A616V;ENSP00000409148:A501V;ENSP00000263067:A354V;ENSP00000263066:A501V;ENSP00000355296:A611V	ENSP00000263066:A501V	A	+	2	0	LDB3	88467856	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	6.026000	0.70873	2.733000	0.93635	0.655000	0.94253	GCC		0.517	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2		
MMRN2	79812	broad.mit.edu	37	10	88704111	88704111	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:88704111A>G	ENST00000372027.5	-	5	884	c.563T>C	c.(562-564)gTg>gCg	p.V188A	MMRN2_ENST00000488950.1_Intron	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	188					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.V188A(1)		breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						CACCCGGTGCACATCATTCTG	0.547																																					p.V188A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T563C	10						.						118.0	110.0	113.0					10																	88704111		2203	4300	6503	88694091	SO:0001583	missense	79812	exon5			AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"""EMI domain containing"""	19888	protein-coding gene	gene with protein product		608925	"""elastin microfibril interfacer 3"""	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.563T>C	10.37:g.88704111A>G	ENSP00000361097:p.Val188Ala		88694091	NM_024756	Q504V7|Q6P2N2	Missense_Mutation	SNP	ENST00000372027.5	37	CCDS7379.1	.	.	.	.	.	.	.	.	.	.	A	11.56	1.675814	0.29783	.	.	ENSG00000173269	ENST00000372027	T	0.17854	2.25	5.4	3.03	0.35002	.	1.302630	0.05286	N	0.520225	T	0.08670	0.0215	N	0.03115	-0.41	0.09310	N	1	B;B	0.12013	0.001;0.005	B;B	0.08055	0.003;0.003	T	0.32481	-0.9905	10	0.40728	T	0.16	-0.0997	5.9219	0.19086	0.7452:0.1664:0.0883:0.0	.	127;188	B4E3H8;Q9H8L6	.;MMRN2_HUMAN	A	188	ENSP00000361097:V188A	ENSP00000361097:V188A	V	-	2	0	MMRN2	88694091	0.014000	0.17966	0.001000	0.08648	0.017000	0.09413	1.922000	0.40045	0.347000	0.23924	0.459000	0.35465	GTG		0.547	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	NM_024756	
FAM35A	54537	broad.mit.edu	37	10	88912390	88912390	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:88912390delA	ENST00000298784.1	+	3	1393	c.1279delA	c.(1279-1281)aaafs	p.K428fs	RN7SL733P_ENST00000582253.1_RNA|FAM35A_ENST00000298786.4_Frame_Shift_Del_p.K428fs	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	428								p.T429fs*3(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						TAAGAGTATTAAAAAAACATC	0.318																																					p.K427fs	Ovarian(175;703 2004 25460 32514 43441)											.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1279delA	10						.						1.0	1.0	1.0					10																	88912390		488	1137	1625	88902370	SO:0001589	frameshift_variant	54537	exon3			BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.1279delA	10.37:g.88912390delA	ENSP00000298784:p.Lys428fs		88902370	NM_019054	O95885|Q9H991	Frame_Shift_Del	DEL	ENST00000298784.1	37	CCDS7383.1																																																																																				0.318	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054	
LIPJ	142910	broad.mit.edu	37	10	90353864	90353864	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:90353864T>C	ENST00000371939.3	+	5	606	c.292T>C	c.(292-294)Tac>Cac	p.Y98H		NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN	lipase, family member J	98					lipid catabolic process (GO:0016042)		hydrolase activity, acting on ester bonds (GO:0016788)	p.Y98H(1)		large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		GAAACACTTGTACCTAGAAAC	0.373																																					p.Y98H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T292C	10						.						79.0	77.0	78.0					10																	90353864		2203	4300	6503	90343844	SO:0001583	missense	142910	exon5			BC031219	CCDS31240.1	10q23.31	2008-02-04	2008-02-04	2007-02-27	ENSG00000204022	ENSG00000204022			21773	protein-coding gene	gene with protein product		613921	"""lipase-like, ab-hydrolase domain containing 1"", ""lipase, family member J"""	LIPL1			Standard	NM_001010939		Approved	bA425M17.2	uc001kff.3	Q5W064	OTTHUMG00000018691	ENST00000371939.3:c.292T>C	10.37:g.90353864T>C	ENSP00000361007:p.Tyr98His		90343844	NM_001010939	A8MT98|Q0P671	Missense_Mutation	SNP	ENST00000371939.3	37	CCDS31240.1	.	.	.	.	.	.	.	.	.	.	T	0.166	-1.076502	0.01903	.	.	ENSG00000204022	ENST00000371939	T	0.70749	-0.51	4.11	2.97	0.34412	Alpha/beta hydrolase fold-1 (1);	0.801341	0.10561	N	0.660308	T	0.56470	0.1987	L	0.31120	0.905	0.25738	N	0.985195	B	0.10296	0.003	B	0.22880	0.042	T	0.41875	-0.9484	10	0.15499	T	0.54	-19.9458	8.66	0.34086	0.0:0.0952:0.0:0.9048	.	98	Q5W064	LIPJ_HUMAN	H	98	ENSP00000361007:Y98H	ENSP00000361007:Y98H	Y	+	1	0	LIPJ	90343844	0.000000	0.05858	0.010000	0.14722	0.046000	0.14306	-0.033000	0.12246	0.737000	0.32582	-0.410000	0.06199	TAC		0.373	LIPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049248.2	XM_084377	
ACTA2	59	broad.mit.edu	37	10	90700995	90700995	+	Missense_Mutation	SNP	C	C	T	rs397516684		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:90700995C>T	ENST00000458208.1	-	6	1081	c.607G>A	c.(607-609)Gtt>Att	p.V203I	STAMBPL1_ENST00000371927.3_Intron|ACTA2-AS1_ENST00000596007.1_RNA|ACTA2_ENST00000224784.6_Missense_Mutation_p.V203I|ACTA2-AS1_ENST00000437930.4_RNA|ACTA2_ENST00000480297.1_5'UTR	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	203					glomerular mesangial cell development (GO:0072144)|muscle contraction (GO:0006936)|regulation of blood pressure (GO:0008217)|response to virus (GO:0009615)|vascular smooth muscle contraction (GO:0014829)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|smooth muscle contractile fiber (GO:0030485)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)	p.V203I(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		CCAGTAGTAACGAAGGAATAG	0.547																																					p.V203I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G607A	10						.						110.0	84.0	93.0					10																	90700995		2203	4300	6503	90690975	SO:0001583	missense	59	exon6			X13839	CCDS7392.1	10q23.31	2014-09-17			ENSG00000107796	ENSG00000107796			130	protein-coding gene	gene with protein product		102620				2398629	Standard	NM_001141945		Approved	ACTSA	uc001kfp.3	P62736	OTTHUMG00000018700	ENST00000458208.1:c.607G>A	10.37:g.90700995C>T	ENSP00000402373:p.Val203Ile		90690975	NM_001141945	B2R8A4|P03996|P04108|Q6FI19	Missense_Mutation	SNP	ENST00000458208.1	37	CCDS7392.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.221909	0.58560	.	.	ENSG00000107796	ENST00000224784;ENST00000458208;ENST00000544901	D;D	0.94330	-3.4;-3.4	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.89605	0.6763	N	0.21545	0.675	0.58432	D	0.999999	B	0.06786	0.001	B	0.17979	0.02	D	0.84770	0.0767	10	0.87932	D	0	.	18.7419	0.91777	0.0:1.0:0.0:0.0	.	203	P62736	ACTA_HUMAN	I	203;203;158	ENSP00000224784:V203I;ENSP00000402373:V203I	ENSP00000224784:V203I	V	-	1	0	ACTA2	90690975	1.000000	0.71417	0.994000	0.49952	0.915000	0.54546	6.044000	0.71012	2.762000	0.94881	0.655000	0.94253	GTT		0.547	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049264.1	NM_001613	
ACTA2	59	broad.mit.edu	37	10	90707099	90707099	+	Silent	SNP	G	G	A	rs150547139		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:90707099G>A	ENST00000458208.1	-	3	648	c.174C>T	c.(172-174)gaC>gaT	p.D58D	STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000224784.6_Silent_p.D58D|ACTA2_ENST00000480297.1_5'UTR	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	58					glomerular mesangial cell development (GO:0072144)|muscle contraction (GO:0006936)|regulation of blood pressure (GO:0008217)|response to virus (GO:0009615)|vascular smooth muscle contraction (GO:0014829)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|smooth muscle contractile fiber (GO:0030485)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)	p.D58D(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		TCTGTGCTTCGTCACCCACGT	0.463													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21057	0.0		0.0	False		,,,				2504	0.0				p.D58D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C174T	10						.	G	,	3,4403	6.2+/-15.9	0,3,2200	374.0	305.0	329.0		174,174	-0.3	1.0	10	dbSNP_134	329	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ACTA2	NM_001141945.1,NM_001613.2	,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,	58/378,58/378	90707099	3,13003	2203	4300	6503	90697079	SO:0001819	synonymous_variant	59	exon3			X13839	CCDS7392.1	10q23.31	2014-09-17			ENSG00000107796	ENSG00000107796			130	protein-coding gene	gene with protein product		102620				2398629	Standard	NM_001141945		Approved	ACTSA	uc001kfp.3	P62736	OTTHUMG00000018700	ENST00000458208.1:c.174C>T	10.37:g.90707099G>A			90697079	NM_001141945	B2R8A4|P03996|P04108|Q6FI19	Silent	SNP	ENST00000458208.1	37	CCDS7392.1																																																																																				0.463	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049264.1	NM_001613	
MYOF	26509	broad.mit.edu	37	10	95129489	95129489	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:95129489C>T	ENST00000359263.4	-	25	2501	c.2502G>A	c.(2500-2502)ttG>ttA	p.L834L	MYOF_ENST00000358334.5_Silent_p.L821L|MYOF_ENST00000371501.4_Silent_p.L834L|MYOF_ENST00000371502.4_Silent_p.L834L	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	834					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)	p.L834L(1)		NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGTTCACTCGCAACTCCACAG	0.448																																					p.L821L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2463A	10						.						109.0	105.0	106.0					10																	95129489		1941	4157	6098	95119479	SO:0001819	synonymous_variant	26509	exon24			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.2502G>A	10.37:g.95129489C>T			95119479	NM_133337	B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Silent	SNP	ENST00000359263.4	37	CCDS41551.1																																																																																				0.448	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451	
PLCE1	51196	broad.mit.edu	37	10	96018578	96018578	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:96018578G>A	ENST00000371380.3	+	11	3811	c.3576G>A	c.(3574-3576)tgG>tgA	p.W1192*	PLCE1_ENST00000260766.3_Nonsense_Mutation_p.W1192*|PLCE1_ENST00000371385.3_Nonsense_Mutation_p.W884*|PLCE1_ENST00000371375.1_Nonsense_Mutation_p.W884*			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1192					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)	p.W1192*(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GTAGTAGCTGGCACGGGCGGA	0.478																																					p.W884X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2652A	10						.						129.0	125.0	126.0					10																	96018578		1971	4161	6132	96008568	SO:0001587	stop_gained	51196	exon11				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.3576G>A	10.37:g.96018578G>A	ENSP00000360431:p.Trp1192*		96008568	NM_001165979	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Nonsense_Mutation	SNP	ENST00000371380.3	37	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	48	13.976889	0.99773	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	.	.	.	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.7133	0.91666	0.0:0.0:1.0:0.0	.	.	.	.	X	1192;1192;884;884	.	ENSP00000260766:W1192X	W	+	3	0	PLCE1	96008568	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.166000	0.94766	2.729000	0.93468	0.555000	0.69702	TGG		0.478	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341	
TLL2	7093	broad.mit.edu	37	10	98129915	98129915	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:98129915A>G	ENST00000357947.3	-	20	3045	c.2820T>C	c.(2818-2820)gtT>gtC	p.V940V		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	940	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.V940V(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CCTCCTCCTCAACCTCAAAGG	0.627																																					p.V940V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2820C	10						.						90.0	75.0	80.0					10																	98129915		2203	4300	6503	98119905	SO:0001819	synonymous_variant	7093	exon20			AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.2820T>C	10.37:g.98129915A>G			98119905	NM_012465	A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Silent	SNP	ENST00000357947.3	37	CCDS7449.1																																																																																				0.627	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1		
TLL2	7093	broad.mit.edu	37	10	98144493	98144493	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:98144493C>A	ENST00000357947.3	-	16	2270	c.2045G>T	c.(2044-2046)aGc>aTc	p.S682I		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	682	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S682I(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GGACAGGCCGCTGCGCACCTC	0.627																																					p.S682I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2045T	10						.						104.0	100.0	101.0					10																	98144493		2203	4300	6503	98134483	SO:0001583	missense	7093	exon16			AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.2045G>T	10.37:g.98144493C>A	ENSP00000350630:p.Ser682Ile		98134483	NM_012465	A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.955160	0.92726	.	.	ENSG00000095587	ENST00000357947	T	0.30981	1.51	4.59	4.59	0.56863	CUB (5);	0.000000	0.53938	D	0.000052	T	0.58836	0.2150	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.65166	-0.6234	10	0.87932	D	0	.	16.9266	0.86178	0.0:1.0:0.0:0.0	.	682	Q9Y6L7	TLL2_HUMAN	I	682	ENSP00000350630:S682I	ENSP00000350630:S682I	S	-	2	0	TLL2	98134483	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	7.609000	0.82925	2.548000	0.85928	0.484000	0.47621	AGC		0.627	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1		
LCOR	84458	broad.mit.edu	37	10	98715410	98715410	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:98715410C>T	ENST00000371097.4	+	8	1579	c.1033C>T	c.(1033-1035)Cgt>Tgt	p.R345C	LCOR_ENST00000371103.3_Missense_Mutation_p.R345C|LCOR_ENST00000498444.1_Intron|LCOR_ENST00000356016.3_Missense_Mutation_p.R345C|LCOR_ENST00000540664.1_Missense_Mutation_p.R345C			Q96JN0	LCOR_HUMAN	ligand dependent nuclear receptor corepressor	345	HTH psq-type. {ECO:0000255|PROSITE- ProRule:PRU00320}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R345C(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		GAAAAGAGGGCGTTACAGACA	0.488																																					p.R345C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1033T	10						.						58.0	56.0	57.0					10																	98715410		2203	4300	6503	98705400	SO:0001583	missense	84458	exon8				CCDS7451.1, CCDS53561.1	10q24	2006-06-28			ENSG00000196233	ENSG00000196233			29503	protein-coding gene	gene with protein product		607698				12535528, 15193453	Standard	NM_001170765		Approved	MLR2, FLJ38026, KIAA1795		Q96JN0	OTTHUMG00000018841	ENST00000371097.4:c.1033C>T	10.37:g.98715410C>T	ENSP00000360138:p.Arg345Cys		98705400	NM_032440	D3DR47|Q5VW16|Q7Z723|Q86T32|Q86T33|Q8N3L6	Missense_Mutation	SNP	ENST00000371097.4	37	CCDS7451.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.782268	0.49891	.	.	ENSG00000196233	ENST00000540664;ENST00000371103;ENST00000371097;ENST00000356016	.	.	.	5.65	4.64	0.57946	Homeodomain-like (1);Helix-turn-helix, Psq-like (1);	0.000000	0.85682	D	0.000000	T	0.63861	0.2547	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.991;0.996	T	0.66496	-0.5909	9	0.87932	D	0	-2.4247	13.7222	0.62735	0.2258:0.7742:0.0:0.0	.	345;345	Q96JN0;Q96JN0-2	LCOR_HUMAN;.	C	345	.	ENSP00000348298:R345C	R	+	1	0	LCOR	98705400	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.590000	0.46154	2.827000	0.97445	0.650000	0.86243	CGT		0.488	LCOR-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049628.2		
SLIT1	6585	broad.mit.edu	37	10	98808799	98808799	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:98808799C>T	ENST00000266058.4	-	14	1623	c.1378G>A	c.(1378-1380)Gag>Aag	p.E460K	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.E460K	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	460	LRRCT 2.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.E460K(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CCACTCGTCTCGATGGGATTG	0.612																																					p.E460K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1378A	10						.						86.0	78.0	80.0					10																	98808799		2203	4300	6503	98798789	SO:0001583	missense	6585	exon14			AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.1378G>A	10.37:g.98808799C>T	ENSP00000266058:p.Glu460Lys		98798789	NM_003061	Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	C	34	5.339880	0.95783	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371070;ENST00000314867	T;T;T	0.81078	-1.45;-1.44;0.73	5.14	5.14	0.70334	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90181	0.6931	M	0.80508	2.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.973;0.984	D	0.91238	0.5019	10	0.87932	D	0	.	18.7937	0.91985	0.0:1.0:0.0:0.0	.	470;460	E7EWQ8;O75093	.;SLIT1_HUMAN	K	460;470;460;453	ENSP00000266058:E460K;ENSP00000360109:E460K;ENSP00000315005:E453K	ENSP00000266058:E460K	E	-	1	0	SLIT1	98798789	1.000000	0.71417	0.997000	0.53966	0.899000	0.52679	7.605000	0.82844	2.662000	0.90505	0.557000	0.71058	GAG		0.612	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061	
PKD2L1	9033	broad.mit.edu	37	10	102057331	102057331	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:102057331delC	ENST00000318222.3	-	5	1146	c.764delG	c.(763-765)ggcfs	p.G255fs	PKD2L1_ENST00000353274.3_Frame_Shift_Del_p.G255fs|PKD2L1_ENST00000338519.3_Intron	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	255					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)	p.G255fs*64(1)		NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GTGGGAGAAGCCCCCCAACTC	0.582																																					p.G255fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.764delG	10						.						44.0	40.0	41.0					10																	102057331		2203	4300	6503	102047321	SO:0001589	frameshift_variant	9033	exon5			AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.764delG	10.37:g.102057331delC	ENSP00000325296:p.Gly255fs		102047321	NM_016112	O75972|Q5W039|Q9UP35|Q9UPA2	Frame_Shift_Del	DEL	ENST00000318222.3	37	CCDS7492.1																																																																																				0.582	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112	
LZTS2	84445	broad.mit.edu	37	10	102762593	102762593	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:102762593delC	ENST00000370220.1	+	1	3361	c.298delC	c.(298-300)cccfs	p.P101fs	LZTS2_ENST00000370223.3_Frame_Shift_Del_p.P101fs					leucine zipper, putative tumor suppressor 2									p.S102fs*41(2)		breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GACAGAGTCACCCCCCAGCCC	0.612																																					p.P100fs	Esophageal Squamous(8;38 437 13604 19902 37640)											.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.298delC	10						.						48.0	51.0	50.0					10																	102762593		2203	4300	6503	102752583	SO:0001589	frameshift_variant	84445	exon2			AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.298delC	10.37:g.102762593delC	ENSP00000359240:p.Pro101fs		102752583	NM_032429		Frame_Shift_Del	DEL	ENST00000370220.1	37	CCDS7507.1																																																																																				0.612	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	XM_046743	
SH3PXD2A	9644	broad.mit.edu	37	10	105363391	105363391	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:105363391delG	ENST00000369774.4	-	15	1860	c.1584delC	c.(1582-1584)cccfs	p.P528fs	SH3PXD2A_ENST00000540321.1_Frame_Shift_Del_p.P395fs|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Frame_Shift_Del_p.P363fs|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Frame_Shift_Del_p.P500fs			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	528					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)	p.S501fs*43(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		TGGGCTTGCTGGGGGGTGCTG	0.667																																					p.P500fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1500delC	10						.						31.0	36.0	34.0					10																	105363391		2202	4300	6502	105353381	SO:0001589	frameshift_variant	9644	exon14			AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.1584delC	10.37:g.105363391delG	ENSP00000358789:p.Pro528fs		105353381	NM_014631	D3DR98|O43302|Q5TCZ2|Q5TDQ8	Frame_Shift_Del	DEL	ENST00000369774.4	37																																																																																					0.667	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631	
C10orf82	143379	broad.mit.edu	37	10	118425115	118425115	+	Intron	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:118425115C>A	ENST00000369210.3	-	3	329				C10orf82_ENST00000588184.1_Intron	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82									p.?(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		CAGGGCGCTGCTACCCAGGAT	0.607																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	10						.						93.0	88.0	90.0					10																	118425115		2203	4300	6503	118415105	SO:0001627	intron_variant	143379	.			BC021737	CCDS7596.1	10q26.12	2012-05-31			ENSG00000165863	ENSG00000165863			28500	protein-coding gene	gene with protein product						12477932	Standard	NM_144661		Approved	MGC33547, Em:AC016825.4	uc001lcr.3	Q8WW14	OTTHUMG00000019105	ENST00000369210.3:c.274+3G>T	10.37:g.118425115C>A			118415105	.	B3KUM9|D3DRC3	Missense_Mutation	SNP	ENST00000369210.3	37	CCDS7596.1																																																																																				0.607	C10orf82-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000050527.1	NM_144661	
C10orf88	80007	broad.mit.edu	37	10	124711510	124711510	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:124711510delT	ENST00000481909.1	-	3	625	c.401delA	c.(400-402)aatfs	p.N134fs	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	134								p.N134fs*2(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		CAATTTTAGATTTTTTTTATA	0.244																																					p.N134fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.401delA	10						.						54.0	53.0	53.0					10																	124711510		2199	4295	6494	124701500	SO:0001589	frameshift_variant	80007	exon3			AK023552	CCDS7632.1	10q26.13	2012-11-09			ENSG00000119965	ENSG00000119965			25822	protein-coding gene	gene with protein product						12477932	Standard	NM_024942		Approved	FLJ13490, Em:AC073585.5	uc001lgw.2	Q9H8K7	OTTHUMG00000019190	ENST00000481909.1:c.401delA	10.37:g.124711510delT	ENSP00000419126:p.Asn134fs		124701500	NM_024942	Q0P6C6|Q8N597	Frame_Shift_Del	DEL	ENST00000481909.1	37	CCDS7632.1																																																																																				0.244	C10orf88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050807.1	NM_024942	
CPXM2	119587	broad.mit.edu	37	10	125514234	125514234	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:125514234delT	ENST00000241305.3	-	13	2116	c.1962delA	c.(1960-1962)aaafs	p.K654fs	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	654					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.G655fs*9(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TTGGGATTCCTTTTCCATGTG	0.478																																					p.K654fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1962delA	10						.						357.0	301.0	320.0					10																	125514234		2203	4300	6503	125504224	SO:0001589	frameshift_variant	119587	exon13			AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1962delA	10.37:g.125514234delT	ENSP00000241305:p.Lys654fs		125504224	NM_198148	B4E3Q2	Frame_Shift_Del	DEL	ENST00000241305.3	37	CCDS7637.1																																																																																				0.478	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148	
UROS	7390	broad.mit.edu	37	10	127483521	127483521	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:127483521delA	ENST00000368797.4	-	9	812	c.588delT	c.(586-588)tttfs	p.F196fs	UROS_ENST00000462490.1_5'UTR|UROS_ENST00000368786.1_Frame_Shift_Del_p.F196fs	NM_000375.2	NP_000366.1	P10746	HEM4_HUMAN	uroporphyrinogen III synthase	196					cellular response to amine stimulus (GO:0071418)|cellular response to arsenic-containing substance (GO:0071243)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to antibiotic (GO:0046677)|small molecule metabolic process (GO:0044281)|uroporphyrinogen III biosynthetic process (GO:0006780)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|uroporphyrinogen-III synthase activity (GO:0004852)	p.F196fs*44(1)		endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				CAGAGGGACTAAAAAATGTGA	0.453																																					p.F196fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.588delT	10						.						119.0	113.0	115.0					10																	127483521		2203	4300	6503	127473511	SO:0001589	frameshift_variant	7390	exon9			J03824	CCDS7648.1	10q25.2-q26.3	2008-07-31	2008-07-31		ENSG00000188690	ENSG00000188690	4.2.1.75		12592	protein-coding gene	gene with protein product	"""congenital erythropoietic porphyria"""	606938				2037278	Standard	NM_000375		Approved		uc001lix.4	P10746	OTTHUMG00000019236	ENST00000368797.4:c.588delT	10.37:g.127483521delA	ENSP00000357787:p.Phe196fs		127473511	NM_000375	B2RC13|D3DRF7|Q9H2T1	Frame_Shift_Del	DEL	ENST00000368797.4	37	CCDS7648.1																																																																																				0.453	UROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050929.1	NM_000375	
CYP2E1	1571	broad.mit.edu	37	10	135340940	135340940	+	Missense_Mutation	SNP	C	C	T	rs563043306		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr10:135340940C>T	ENST00000463117.2	+	3	313	c.41C>T	c.(40-42)gCg>gTg	p.A14V	SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.A14V			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	14					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.A14V(1)		NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	CTGGTGTGGGCGGCCTTCCTC	0.642									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				c|||	1	0.000199681	0.0	0.0	5008	,	,		16296	0.0		0.0	False		,,,				2504	0.001				p.A14V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C41T	10						.						61.0	61.0	61.0					10																	135340940		2203	4300	6503	135190930	SO:0001583	missense	1571	exon1	Familial Cancer Database	incl.: Familial Head and Neck Cancer	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"""Cytochrome P450s"""	2631	protein-coding gene	gene with protein product		124040	"""cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"""	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.41C>T	10.37:g.135340940C>T	ENSP00000440689:p.Ala14Val		135190930	NM_000773	Q5VZD5|Q6NWT9|Q9UK47	Missense_Mutation	SNP	ENST00000463117.2	37	CCDS7686.1	.	.	.	.	.	.	.	.	.	.	C	0.034	-1.317486	0.01331	.	.	ENSG00000130649	ENST00000463117;ENST00000541261;ENST00000252945	T;T;T	0.68025	-0.3;1.94;-0.3	4.72	1.08	0.20341	.	1.578480	0.02971	N	0.144335	T	0.32224	0.0822	N	0.00538	-1.39	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.38607	-0.9653	10	0.08599	T	0.76	.	7.7373	0.28821	0.0:0.2605:0.0:0.7395	.	14	P05181	CP2E1_HUMAN	V	14	ENSP00000440689:A14V;ENSP00000437799:A14V;ENSP00000252945:A14V	ENSP00000252945:A14V	A	+	2	0	CYP2E1	135190930	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.265000	0.18515	0.086000	0.17137	-1.587000	0.00848	GCG		0.642	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051161.2	NM_000773	
KIAA1377	57562	broad.mit.edu	37	11	101833347	101833347	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:101833347A>G	ENST00000263468.8	+	6	1851	c.1581A>G	c.(1579-1581)atA>atG	p.I527M	KIAA1377_ENST00000537689.1_Missense_Mutation_p.I328M	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	527								p.I527M(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		ATGCCTATATACCTCACAATC	0.303																																					p.I527M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1581G	11						.						38.0	40.0	40.0					11																	101833347		2202	4295	6497	101338557	SO:0001583	missense	57562	exon6			AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.1581A>G	11.37:g.101833347A>G	ENSP00000263468:p.Ile527Met		101338557	NM_020802	Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	A	2.280	-0.365028	0.05103	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	T;T	0.07216	3.21;3.21	4.93	2.54	0.30619	.	0.807415	0.11434	N	0.564511	T	0.06416	0.0165	L	0.41236	1.265	0.09310	N	1	B	0.28850	0.225	B	0.23574	0.047	T	0.36768	-0.9734	10	0.36615	T	0.2	-0.2237	3.3435	0.07127	0.5298:0.0:0.199:0.2712	.	527	Q9P2H0	K1377_HUMAN	M	527;328	ENSP00000263468:I527M;ENSP00000443184:I328M	ENSP00000263468:I527M	I	+	3	3	KIAA1377	101338557	0.523000	0.26274	0.553000	0.28255	0.536000	0.34869	1.248000	0.32827	0.824000	0.34613	0.533000	0.62120	ATA		0.303	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802	
MMP3	4314	broad.mit.edu	37	11	102714245	102714245	+	Silent	SNP	G	G	A	rs113324830	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:102714245G>A	ENST00000299855.5	-	1	289	c.33C>T	c.(31-33)tgC>tgT	p.C11C		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	11					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.C11C(1)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	AAACTGCCACGCACAGCAACA	0.498																																					p.C11C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C33T	11						.	G		4,4402	9.9+/-24.2	0,4,2199	179.0	141.0	154.0		33	-10.4	0.0	11	dbSNP_132	154	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	MMP3	NM_002422.3		0,6,6496	AA,AG,GG		0.0233,0.0908,0.0461		11/478	102714245	6,12998	2203	4299	6502	102219455	SO:0001819	synonymous_variant	4314	exon1			X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"""matrix metalloproteinase 3 (stromelysin 1, progelatinase)"""	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.33C>T	11.37:g.102714245G>A			102219455	NM_002422	B2R8B8|Q3B7S0|Q6GRF8	Silent	SNP	ENST00000299855.5	37	CCDS8323.1																																																																																				0.498	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109758.2	NM_002422	
MMP12	4321	broad.mit.edu	37	11	102742636	102742636	+	RNA	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:102742636C>T	ENST00000532855.1	-	0	493							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A133T(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	TTCCGGATTGCGTAGTCAACA	0.408																																					p.A133T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G397A	11						.						81.0	78.0	79.0					11																	102742636		1917	4144	6061	102247846			4321	exon3			L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102742636C>T			102247846	NM_002426	B2R9X8|B7ZLF6|Q2M1L9	Missense_Mutation	SNP	ENST00000532855.1	37																																																																																					0.408	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426	
DYNC2H1	79659	broad.mit.edu	37	11	103055759	103055759	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:103055759A>G	ENST00000375735.2	+	41	6756	c.6612A>G	c.(6610-6612)tcA>tcG	p.S2204S	DYNC2H1_ENST00000398093.3_Silent_p.S2204S|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2204					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ATATGAAGTCACGTTTGGAAT	0.333																																					p.S2204S												.	.	0			c.A6612G	11						.						130.0	121.0	124.0					11																	103055759		1827	4082	5909	102560969	SO:0001819	synonymous_variant	79659	exon41			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.6612A>G	11.37:g.103055759A>G			102560969	NM_001377	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	ENST00000375735.2	37	CCDS53701.1																																																																																				0.333	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	
PDGFD	80310	broad.mit.edu	37	11	103814314	103814314	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:103814314T>G	ENST00000393158.2	-	5	817	c.638A>C	c.(637-639)aAa>aCa	p.K213T	PDGFD_ENST00000302251.5_Missense_Mutation_p.K207T|RP11-617B3.2_ENST00000527804.1_RNA			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	213					cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)		p.K213T(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		TTCTGCAATTTTTTTGTCCAG	0.428																																					p.K207T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A620C	11						.						100.0	85.0	90.0					11																	103814314		2202	4299	6501	103319524	SO:0001583	missense	80310	exon5			AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"""spinal cord derived growth factor B"""	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.638A>C	11.37:g.103814314T>G	ENSP00000376865:p.Lys213Thr		103319524	NM_033135	A8K9T6|Q9BWV5	Missense_Mutation	SNP	ENST00000393158.2	37	CCDS41703.1	.	.	.	.	.	.	.	.	.	.	T	2.921	-0.223126	0.06061	.	.	ENSG00000170962	ENST00000393158;ENST00000302251	T;T	0.24350	1.86;1.86	5.53	3.62	0.41486	.	0.328594	0.34853	N	0.003624	T	0.05914	0.0154	N	0.00210	-1.845	0.26392	N	0.976562	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32719	-0.9896	10	0.06891	T	0.86	-8.2747	14.8219	0.70080	0.0:0.0:0.7272:0.2727	.	213;207	Q9GZP0;Q9GZP0-2	PDGFD_HUMAN;.	T	213;207	ENSP00000376865:K213T;ENSP00000302193:K207T	ENSP00000302193:K207T	K	-	2	0	PDGFD	103319524	1.000000	0.71417	0.648000	0.29521	0.886000	0.51366	3.406000	0.52637	0.779000	0.33543	-0.219000	0.12488	AAA		0.428	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208	
MUC2	4583	broad.mit.edu	37	11	1093690	1093690	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:1093690A>C	ENST00000441003.2	+	30	5536	c.5509A>C	c.(5509-5511)Acc>Ccc	p.T1837P	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Missense_Mutation_p.T125P	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.T1837P(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGGGCCCCCCACCCACACAAG	0.612																																					p.T1833P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5497C	11						.						181.0	224.0	210.0					11																	1093690		2100	4192	6292	1083690	SO:0001583	missense	4583	exon31			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5509A>C	11.37:g.1093690A>C	ENSP00000415183:p.Thr1837Pro		1083690	NM_002457	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	A	9.860	1.196078	0.22037	.	.	ENSG00000198788	ENST00000441003;ENST00000333592	T;T	0.12984	2.63;3.16	1.16	1.16	0.20824	.	.	.	.	.	T	0.13500	0.0327	.	.	.	0.09310	N	1	P	0.42518	0.782	B	0.43575	0.424	T	0.16630	-1.0396	8	0.66056	D	0.02	.	6.4299	0.21790	1.0:0.0:0.0:0.0	.	1837	E7EUV1	.	P	1837;125	ENSP00000415183:T1837P;ENSP00000331373:T125P	ENSP00000331373:T125P	T	+	1	0	MUC2	1083690	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.391000	0.20784	0.788000	0.33755	0.254000	0.18369	ACC		0.612	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457	
AMPD3	272	broad.mit.edu	37	11	10515022	10515022	+	Missense_Mutation	SNP	C	C	T	rs149809940		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:10515022C>T	ENST00000396554.3	+	7	1434	c.1093C>T	c.(1093-1095)Cgg>Tgg	p.R365W	AMPD3_ENST00000444303.2_Missense_Mutation_p.R197W	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	356					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)	p.R365W(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GATCACCCTGCGGCAGGTGTT	0.597																																					p.R356W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1066T	11						.	C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4402		0,0,2201	73.0	77.0	76.0		1093,1066,1087,1066,589	0.8	1.0	11	dbSNP_134	76	5,8583	4.3+/-15.6	0,5,4289	yes	missense,missense,missense,missense,missense	AMPD3	NM_000480.2,NM_001025389.1,NM_001025390.1,NM_001172430.1,NM_001172431.1	101,101,101,101,101	0,5,6490	TT,TC,CC		0.0582,0.0,0.0385	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	365/777,356/768,363/775,356/768,197/609	10515022	5,12985	2201	4294	6495	10471598	SO:0001583	missense	272	exon7			M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"""erythrocyte-specific AMP deaminase"""	102772	"""adenosine monophosphate deaminase (isoform E)"""			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.1093C>T	11.37:g.10515022C>T	ENSP00000379802:p.Arg365Trp		10471598	NM_001025389	A0AUX0|B7Z2S2|B7Z763|B7Z877	Missense_Mutation	SNP	ENST00000396554.3	37	CCDS7802.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.484774	0.63962	0.0	5.82E-4	ENSG00000133805	ENST00000444303;ENST00000396554;ENST00000396553;ENST00000528723;ENST00000529507	D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83	5.41	0.775	0.18527	Adenosine/AMP deaminase (1);	0.163592	0.51477	D	0.000081	D	0.87390	0.6165	L	0.54323	1.7	0.36336	D	0.859182	D;D;D	0.69078	0.995;0.997;0.995	P;P;P	0.57152	0.78;0.814;0.78	D	0.89849	0.4008	10	0.87932	D	0	-19.7678	14.9491	0.71057	0.7701:0.2299:0.0:0.0	.	363;356;365	B7Z763;Q01432;A0AUX0	.;AMPD3_HUMAN;.	W	197;365;356;363;356	ENSP00000396000:R197W;ENSP00000379802:R365W;ENSP00000379801:R356W;ENSP00000436987:R363W;ENSP00000431648:R356W	ENSP00000379801:R356W	R	+	1	2	AMPD3	10471598	0.915000	0.31059	1.000000	0.80357	0.647000	0.38526	0.544000	0.23253	0.221000	0.20879	0.462000	0.41574	CGG		0.597	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	NM_000480	
CASP5	838	broad.mit.edu	37	11	104879559	104879559	+	Silent	SNP	C	C	T	rs185729600		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:104879559C>T	ENST00000260315.3	-	2	155	c.156G>A	c.(154-156)acG>acA	p.T52T	CASP5_ENST00000444749.2_Intron|CASP5_ENST00000393141.2_Silent_p.T65T|CASP5_ENST00000526056.1_Silent_p.T65T|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000393139.2_Silent_p.T19T			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	52					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)	p.T36T(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		ACTTTTGATCCGTATTAGGTA	0.373																																					p.T65T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G195A	11						.						131.0	119.0	123.0					11																	104879559		2201	4298	6499	104384769	SO:0001819	synonymous_variant	838	exon2				CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.156G>A	11.37:g.104879559C>T			104384769	NM_001136112	B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Silent	SNP	ENST00000260315.3	37	CCDS8328.2																																																																																				0.373	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	NM_004347	
ZC3H12C	85463	broad.mit.edu	37	11	110036357	110036357	+	Silent	SNP	C	C	T	rs191947838		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:110036357C>T	ENST00000278590.3	+	6	2598	c.2547C>T	c.(2545-2547)ttC>ttT	p.F849F	ZC3H12C_ENST00000528673.1_Silent_p.F850F|ZC3H12C_ENST00000453089.2_Silent_p.F818F	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	849							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.F849F(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GCAACATCTTCCCCCCTGACC	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		20011	0.0		0.001	False		,,,				2504	0.0				p.F849F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2547T	11						.						27.0	28.0	28.0					11																	110036357		1905	4123	6028	109541567	SO:0001819	synonymous_variant	85463	exon6				CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"""Zinc fingers, CCCH-type domain containing"""	29362	protein-coding gene	gene with protein product	"""MCP induced protein 3"""	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.2547C>T	11.37:g.110036357C>T			109541567	NM_033390	B4DI65|B4DR47	Silent	SNP	ENST00000278590.3	37	CCDS44727.1																																																																																				0.507	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	NM_033390	
ARHGAP20	57569	broad.mit.edu	37	11	110561294	110561294	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:110561294G>A	ENST00000260283.4	-	3	448	c.164C>T	c.(163-165)gCc>gTc	p.A55V	ARHGAP20_ENST00000357139.3_Missense_Mutation_p.A29V|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.A29V|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.A19V|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.A19V|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.A32V	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	55					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.A55V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TTTTTGTAGGGCTTTATCCAG	0.393																																					p.A55V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C164T	11						.						129.0	110.0	116.0					11																	110561294		2201	4297	6498	110066504	SO:0001583	missense	57569	exon3			AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.164C>T	11.37:g.110561294G>A	ENSP00000260283:p.Ala55Val		110066504	NM_020809	A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.644683	0.47258	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T	0.13420	2.59;2.61;2.6;2.66;2.61;2.66	5.56	3.51	0.40186	.	0.148067	0.64402	D	0.000010	T	0.23532	0.0569	L	0.50333	1.59	0.25243	N	0.989734	D;D	0.67145	0.994;0.996	P;D	0.64776	0.852;0.929	T	0.04115	-1.0976	10	0.26408	T	0.33	.	8.087	0.30777	0.0:0.1751:0.6435:0.1814	.	55;32	Q9P2F6;Q9P2F6-3	RHG20_HUMAN;.	V	55;29;32;19;29;19	ENSP00000260283:A55V;ENSP00000349660:A29V;ENSP00000432076:A32V;ENSP00000436319:A19V;ENSP00000436522:A29V;ENSP00000431399:A19V	ENSP00000260283:A55V	A	-	2	0	ARHGAP20	110066504	1.000000	0.71417	0.978000	0.43139	0.770000	0.43624	2.763000	0.47605	1.274000	0.44362	0.655000	0.94253	GCC		0.393	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809	
SIK2	23235	broad.mit.edu	37	11	111591664	111591664	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:111591664A>C	ENST00000304987.3	+	12	1995	c.1822A>C	c.(1822-1824)Acc>Ccc	p.T608P		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	608					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.T608P(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						TCTGGCTAGAACCAAAGGAAT	0.453																																					p.T608P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1822C	11						.						107.0	108.0	107.0					11																	111591664		2201	4297	6498	111096874	SO:0001583	missense	23235	exon12			AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.1822A>C	11.37:g.111591664A>C	ENSP00000305976:p.Thr608Pro		111096874	NM_015191	A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Missense_Mutation	SNP	ENST00000304987.3	37	CCDS8347.1	.	.	.	.	.	.	.	.	.	.	A	29.3	4.998416	0.93227	.	.	ENSG00000170145	ENST00000304987	T	0.77750	-1.12	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.87059	0.6083	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	D	0.86909	0.2059	10	0.48119	T	0.1	.	16.4957	0.84242	1.0:0.0:0.0:0.0	.	608	Q9H0K1	SIK2_HUMAN	P	608	ENSP00000305976:T608P	ENSP00000305976:T608P	T	+	1	0	SIK2	111096874	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.060000	0.76692	2.371000	0.80710	0.533000	0.62120	ACC		0.453	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191	
ALG9	79796	broad.mit.edu	37	11	111680410	111680410	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:111680410C>T	ENST00000531154.1	-	14	1649	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K	ALG9_ENST00000524880.1_3'UTR|ALG9_ENST00000398006.2_Missense_Mutation_p.E386K|ALG9_ENST00000527228.1_5'UTR	NM_024740.2	NP_079016.2	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	557					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052926)|dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052918)	p.E393K(1)|p.E790K(1)|p.E789K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		CTGATCCATTCTTCTTTATTG	0.388																																					p.E393K												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G1177A	11						.						170.0	158.0	162.0					11																	111680410		1827	4073	5900	111185620	SO:0001583	missense	79796	exon14				CCDS41714.1, CCDS53709.1, CCDS73379.1, CCDS73380.1	11q23	2013-02-26	2013-02-26	2004-08-26	ENSG00000086848	ENSG00000086848	2.4.1.259, 2.4.1.261	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	15672	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dol-P-Man dependent alpha-1,2-mannosyltransferase"""	606941	"""disrupted in bipolar affective disorder 1"", ""asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)"""	DIBD1		12030331, 15148656	Standard	NM_024740		Approved		uc021qql.1	Q9H6U8	OTTHUMG00000166819	ENST00000531154.1:c.1177G>A	11.37:g.111680410C>T	ENSP00000435517:p.Glu393Lys		111185620	NM_001077691	Q6ZMD5|Q7Z4R4|Q96GS7|Q96PB9|Q9H068	Missense_Mutation	SNP	ENST00000531154.1	37	CCDS41714.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.037549	0.54896	.	.	ENSG00000086848	ENST00000531154;ENST00000398006;ENST00000428306	T;T	0.73047	-0.71;-0.71	5.96	5.06	0.68205	.	0.047229	0.85682	N	0.000000	T	0.58836	0.2150	L	0.42632	1.34	0.80722	D	1	B;B;B	0.24768	0.004;0.111;0.023	B;B;B	0.19391	0.004;0.025;0.011	T	0.54417	-0.8297	10	0.06365	T	0.9	-5.6988	13.8695	0.63610	0.0:0.9263:0.0:0.0737	.	386;564;557	B4DQI3;Q9H6U8-3;Q9H6U8	.;.;ALG9_HUMAN	K	393;386;790	ENSP00000435517:E393K;ENSP00000381090:E386K	ENSP00000381090:E386K	E	-	1	0	ALG9	111185620	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.772000	0.62324	1.537000	0.49254	0.655000	0.94253	GAA		0.388	ALG9-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391485.1	NM_024740	
GALNT18	374378	broad.mit.edu	37	11	11314603	11314603	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:11314603C>T	ENST00000227756.4	-	10	2061	c.1650G>A	c.(1648-1650)agG>agA	p.R550R		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	550	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.R550R(1)									GAAGCTTCATCCTCTTGGCTT	0.607																																					p.R550R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1650A	11						.						112.0	96.0	101.0					11																	11314603		2201	4294	6495	11271179	SO:0001819	synonymous_variant	374378	exon10			AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	30488	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 18"""	615136	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"""	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.1650G>A	11.37:g.11314603C>T			11271179	NM_198516	O95903|Q8NDY9	Silent	SNP	ENST00000227756.4	37	CCDS7807.1																																																																																				0.607	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385848.1	NM_198516	
TTC12	54970	broad.mit.edu	37	11	113194146	113194146	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:113194146G>A	ENST00000529221.1	+	3	300	c.195G>A	c.(193-195)atG>atA	p.M65I	TTC12_ENST00000314756.3_Missense_Mutation_p.M65I|TTC12_ENST00000393020.1_Missense_Mutation_p.M65I|TTC12_ENST00000483239.2_Missense_Mutation_p.M65I	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	65								p.M65I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		ACAAGACTATGATCAGTCCTC	0.418																																					p.M65I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G195A	11						.						165.0	157.0	159.0					11																	113194146		2201	4296	6497	112699356	SO:0001583	missense	54970	exon3			AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"""Tetratricopeptide (TTC) repeat domain containing"""	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.195G>A	11.37:g.113194146G>A	ENSP00000433757:p.Met65Ile		112699356	NM_017868	Q8N5H9|Q9NWY3	Missense_Mutation	SNP	ENST00000529221.1	37	CCDS8360.2	.	.	.	.	.	.	.	.	.	.	G	8.357	0.832262	0.16820	.	.	ENSG00000149292	ENST00000529221;ENST00000429951;ENST00000442859;ENST00000531164;ENST00000529850;ENST00000314756;ENST00000525965;ENST00000393020;ENST00000455306;ENST00000483239	T;T;T;T;T;T;T;T;T;T	0.42131	2.59;0.98;1.61;1.6;1.02;2.57;1.02;2.57;1.61;2.59	4.96	3.01	0.34805	Armadillo-type fold (1);	5.947370	0.00166	N	0.000000	T	0.39682	0.1087	L	0.36672	1.1	0.19775	N	0.99995	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.32640	-0.9899	10	0.26408	T	0.33	-0.6535	12.9887	0.58606	0.0:0.4816:0.5184:0.0	.	65;65	A8K8G6;Q9H892	.;TTC12_HUMAN	I	65;65;65;40;65;65;65;65;65;65	ENSP00000433757:M65I;ENSP00000413335:M65I;ENSP00000400039:M65I;ENSP00000433916:M40I;ENSP00000431806:M65I;ENSP00000315160:M65I;ENSP00000435308:M65I;ENSP00000376743:M65I;ENSP00000402004:M65I;ENSP00000419652:M65I	ENSP00000315160:M65I	M	+	3	0	TTC12	112699356	0.023000	0.18921	0.663000	0.29738	0.746000	0.42486	-0.034000	0.12225	0.737000	0.32582	0.655000	0.94253	ATG		0.418	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2	NM_017868	
TMPRSS5	80975	broad.mit.edu	37	11	113560521	113560521	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:113560521G>A	ENST00000299882.5	-	12	1473	c.1325C>T	c.(1324-1326)gCt>gTt	p.A442V	TMPRSS5_ENST00000540540.1_Missense_Mutation_p.A183V|TMPRSS5_ENST00000536856.1_Intron|TMPRSS5_ENST00000545579.1_Missense_Mutation_p.A433V|TMPRSS5_ENST00000544476.1_Missense_Mutation_p.A329V|TMPRSS5_ENST00000544634.1_Missense_Mutation_p.A373V|TMPRSS5_ENST00000538955.1_Missense_Mutation_p.A398V|TMPRSS5_ENST00000545265.1_5'Flank	NM_030770.2	NP_110397.2	Q9H3S3	TMPS5_HUMAN	transmembrane protease, serine 5	442	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	peptidase activity (GO:0008233)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.A442V(2)		endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)		CAGAAACTCAGCTACCTTGGC	0.602																																					p.A442V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1325T	11						.						32.0	35.0	34.0					11																	113560521		2037	4178	6215	113065731	SO:0001583	missense	80975	exon12			AB028140	CCDS44735.1, CCDS73390.1, CCDS73391.1, CCDS73392.1, CCDS73393.1	11q	2010-04-13	2008-07-31		ENSG00000166682	ENSG00000166682		"""Serine peptidases / Transmembrane"""	14908	protein-coding gene	gene with protein product	"""spinesin"""	606751					Standard	NM_030770		Approved	MGC141886, MGC148044	uc001poc.4	Q9H3S3	OTTHUMG00000168186	ENST00000299882.5:c.1325C>T	11.37:g.113560521G>A	ENSP00000299882:p.Ala442Val		113065731	NM_030770		Missense_Mutation	SNP	ENST00000299882.5	37	CCDS44735.1	.	.	.	.	.	.	.	.	.	.	g	14.05	2.421192	0.42918	.	.	ENSG00000166682	ENST00000540540;ENST00000299882;ENST00000545579;ENST00000538955;ENST00000544634;ENST00000544476	D;D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5;-2.5	4.22	2.32	0.28847	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.085748	0.45606	N	0.000350	D	0.91623	0.7353	L	0.58302	1.8	0.36354	D	0.860294	D;D;D	0.89917	0.999;1.0;0.976	D;D;D	0.76071	0.948;0.987;0.93	D	0.92084	0.5675	10	0.87932	D	0	.	9.3465	0.38111	0.1815:0.0:0.8185:0.0	.	373;433;442	F5GYA3;F5GX83;Q9H3S3	.;.;TMPS5_HUMAN	V	183;442;433;398;373;329	ENSP00000437761:A183V;ENSP00000299882:A442V;ENSP00000441104:A433V;ENSP00000445528:A398V;ENSP00000440783:A373V;ENSP00000445930:A329V	ENSP00000299882:A442V	A	-	2	0	TMPRSS5	113065731	0.551000	0.26497	0.012000	0.15200	0.078000	0.17371	3.458000	0.53014	0.540000	0.28808	-0.359000	0.07587	GCT		0.602	TMPRSS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398652.1	NM_030770	
CADM1	23705	broad.mit.edu	37	11	115102168	115102168	+	Missense_Mutation	SNP	G	G	A	rs201626870		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:115102168G>A	ENST00000452722.3	-	4	487	c.467C>T	c.(466-468)gCg>gTg	p.A156V	CADM1_ENST00000536727.1_Missense_Mutation_p.A156V|CADM1_ENST00000542447.2_Missense_Mutation_p.A156V|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000331581.6_Missense_Mutation_p.A156V|CADM1_ENST00000537058.1_Missense_Mutation_p.A156V	NM_014333.3	NP_055148.3			cell adhesion molecule 1									p.A156V(1)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		ACCTTCCACCGCAGTGTCTTT	0.433																																					p.A156V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C467T	11						.						240.0	198.0	212.0					11																	115102168		2201	4296	6497	114607378	SO:0001583	missense	23705	exon4			AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.467C>T	11.37:g.115102168G>A	ENSP00000395359:p.Ala156Val		114607378	NM_014333		Missense_Mutation	SNP	ENST00000452722.3	37	CCDS8373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.15|10.15	1.270372|1.270372	0.23221|0.23221	.|.	.|.	ENSG00000182985|ENSG00000182985	ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581;ENST00000542450;ENST00000543540;ENST00000545094|ENST00000543249	D;D;D;D;D;T;T;T|.	0.84589|.	-1.87;-1.87;-1.87;-1.87;-1.87;3.3;3.3;3.3|.	6.17|6.17	6.17|6.17	0.99709|0.99709	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.311702|.	0.35772|.	N|.	0.002981|.	T|T	0.20047|0.20047	0.0482|0.0482	N|N	0.04880|0.04880	-0.145|-0.145	0.09310|0.09310	N|N	0.999999|0.999999	B;B;B;B;B|.	0.17852|.	0.019;0.019;0.024;0.014;0.007|.	B;B;B;B;B|.	0.16722|.	0.007;0.007;0.012;0.016;0.004|.	T|T	0.17684|0.17684	-1.0361|-1.0361	10|5	0.02654|.	T|.	1|.	.|.	9.8193|9.8193	0.40871|0.40871	0.0689:0.0:0.7908:0.1402|0.0689:0.0:0.7908:0.1402	.|.	156;156;157;156;156|.	Q9BY67-2;F5H0J4;A4FVB5;Q9BY67;A0A4Z1|.	.;.;.;CADM1_HUMAN;.|.	V|W	156;156;156;156;115;156;9;9;123|140	ENSP00000439176:A156V;ENSP00000395359:A156V;ENSP00000439817:A156V;ENSP00000440322:A156V;ENSP00000329797:A156V;ENSP00000442001:A9V;ENSP00000439847:A9V;ENSP00000439696:A123V|.	ENSP00000329797:A156V|.	A|R	-|-	2|1	0|2	CADM1|CADM1	114607378|114607378	0.938000|0.938000	0.31826|0.31826	0.609000|0.609000	0.28983|0.28983	0.855000|0.855000	0.48748|0.48748	4.930000|4.930000	0.63462|0.63462	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.433	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333	
SIDT2	51092	broad.mit.edu	37	11	117052542	117052542	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:117052542T>C	ENST00000324225.4	+	3	856	c.325T>C	c.(325-327)Tac>Cac	p.Y109H	SIDT2_ENST00000431081.2_Missense_Mutation_p.Y109H|SIDT2_ENST00000530948.1_3'UTR	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	109					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)	p.Y109H(1)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		CAAGTACCTCTACCAAAAAGT	0.582											OREG0021368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Y109H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T325C	11						.						93.0	91.0	92.0					11																	117052542		2201	4296	6497	116557752	SO:0001583	missense	51092	exon3			AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.325T>C	11.37:g.117052542T>C	ENSP00000314023:p.Tyr109His	1478	116557752	NM_001040455	Q8NBY7|Q9Y357	Missense_Mutation	SNP	ENST00000324225.4	37	CCDS31682.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.740839	0.89573	.	.	ENSG00000149577	ENST00000324225;ENST00000532960;ENST00000525347;ENST00000278951;ENST00000431081;ENST00000531353	T;T;T;T	0.64438	1.12;-0.1;1.06;1.14	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.78020	0.4218	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.999;0.999	T	0.80926	-0.1164	10	0.87932	D	0	-25.8535	15.1236	0.72465	0.0:0.0:0.0:1.0	.	109;109;109;109	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	H	109;109;109;109;109;8	ENSP00000314023:Y109H;ENSP00000431176:Y109H;ENSP00000278951:Y109H;ENSP00000399635:Y109H	ENSP00000278951:Y109H	Y	+	1	0	SIDT2	116557752	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.018000	0.76406	2.161000	0.67846	0.459000	0.35465	TAC		0.582	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996	
TAGLN	6876	broad.mit.edu	37	11	117074936	117074936	+	Missense_Mutation	SNP	C	C	T	rs138736412		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:117074936C>T	ENST00000532870.1	+	4	1608	c.467C>T	c.(466-468)gCg>gTg	p.A156V	TAGLN_ENST00000392951.4_Missense_Mutation_p.A156V|PCSK7_ENST00000529458.1_5'Flank|TAGLN_ENST00000530649.1_Missense_Mutation_p.A156V			Q01995	TAGL_HUMAN	transgelin	156					epithelial cell differentiation (GO:0030855)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)		p.A156V(1)		central_nervous_system(1)|large_intestine(4)|lung(1)|urinary_tract(1)	7	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|Epithelial(105;5.49e-05)|all cancers(92;0.000435)		TCTAGGAAAGCGCAGGAGCAT	0.537																																					p.A156V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C467T	11						.	C	VAL/ALA,VAL/ALA	2,4400	4.2+/-10.8	0,2,2199	71.0	76.0	75.0		467,467	4.7	1.0	11	dbSNP_134	75	0,8592		0,0,4296	no	missense,missense	TAGLN	NM_001001522.1,NM_003186.3	64,64	0,2,6495	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging	156/202,156/202	117074936	2,12992	2201	4296	6497	116580146	SO:0001583	missense	6876	exon5			M95787	CCDS8381.1	11q23.2	2008-07-21				ENSG00000149591			11553	protein-coding gene	gene with protein product	"""SM22-alpha"", ""transgelin variant 2"""	600818				8117285, 1520290	Standard	NM_003186		Approved	SM22, WS3-10, TAGLN1, SMCC, DKFZp686P11128	uc001pqm.3	Q01995		ENST00000532870.1:c.467C>T	11.37:g.117074936C>T	ENSP00000432282:p.Ala156Val		116580146	NM_003186	O15542	Missense_Mutation	SNP	ENST00000532870.1	37	CCDS8381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.6|27.6	4.843983|4.843983	0.91197|0.91197	4.54E-4|4.54E-4	0.0|0.0	ENSG00000149591|ENSG00000149591	ENST00000392951;ENST00000525531;ENST00000278968;ENST00000530649;ENST00000532870|ENST00000529622	T;T;T;T;T|.	0.37411|.	1.2;1.2;1.2;1.2;1.2|.	4.72|4.72	4.72|4.72	0.59763|0.59763	Calponin homology domain (2);|.	0.102418|.	0.64402|.	D|.	0.000003|.	T|T	0.80116|0.80116	0.4564|0.4564	M|M	0.86864|0.86864	2.845|2.845	0.80722|0.80722	D|D	1|1	P|.	0.47350|.	0.894|.	B|.	0.41946|.	0.371|.	T|T	0.83263|0.83263	-0.0047|-0.0047	10|5	0.87932|.	D|.	0|.	.|.	16.4448|16.4448	0.83919|0.83919	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	156|.	Q01995|.	TAGL_HUMAN|.	V|C	156|106	ENSP00000376678:A156V;ENSP00000432054:A156V;ENSP00000278968:A156V;ENSP00000431941:A156V;ENSP00000432282:A156V|.	ENSP00000278968:A156V|.	A|R	+|+	2|1	0|0	TAGLN|TAGLN	116580146|116580146	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.857000|0.857000	0.48899|0.48899	7.209000|7.209000	0.77916|0.77916	2.459000|2.459000	0.83118|0.83118	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.537	TAGLN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392864.1	NM_001001522	
RNF214	257160	broad.mit.edu	37	11	117152649	117152649	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:117152649C>A	ENST00000531452.1	+	11	1421	c.1375C>A	c.(1375-1377)Ctg>Atg	p.L459M	RNF214_ENST00000531287.1_Missense_Mutation_p.L304M|RNF214_ENST00000530849.1_Missense_Mutation_p.L304M|RNF214_ENST00000300650.4_Missense_Mutation_p.L459M|RNF214_ENST00000524917.1_Intron	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	459	Pro-rich.						zinc ion binding (GO:0008270)	p.L459M(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		CAGTCCCTCTCTGGCTCCTCG	0.517																																					p.L459M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1375A	11						.						190.0	190.0	190.0					11																	117152649		1983	4158	6141	116657859	SO:0001583	missense	257160	exon11			AL834448	CCDS41720.1, CCDS60976.1	11q23.3	2014-02-12	2007-02-16		ENSG00000167257	ENSG00000167257		"""RING-type (C3HC4) zinc fingers"""	25335	protein-coding gene	gene with protein product							Standard	NM_001077239		Approved	DKFZp547C195	uc001pqt.4	Q8ND24	OTTHUMG00000167069	ENST00000531452.1:c.1375C>A	11.37:g.117152649C>A	ENSP00000431643:p.Leu459Met		116657859	NM_001077239	B2RUW0|B4DTD1	Missense_Mutation	SNP	ENST00000531452.1	37	CCDS41720.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.116732	0.56505	.	.	ENSG00000167257	ENST00000531287;ENST00000531452;ENST00000530849;ENST00000300650;ENST00000534709	T;T;T;T	0.45668	0.89;1.0;1.0;1.0	5.67	3.81	0.43845	.	0.171929	0.39834	N	0.001257	T	0.56688	0.2002	L	0.60455	1.87	0.29071	N	0.883265	D;D	0.69078	0.997;0.997	D;D	0.78314	0.951;0.991	T	0.53315	-0.8456	10	0.33940	T	0.23	-3.6575	11.4863	0.50356	0.0:0.8552:0.0:0.1448	.	304;459	B4DTD1;Q8ND24	.;RN214_HUMAN	M	304;459;304;459;11	ENSP00000435361:L304M;ENSP00000431643:L459M;ENSP00000432903:L304M;ENSP00000300650:L459M	ENSP00000300650:L459M	L	+	1	2	RNF214	116657859	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.540000	0.36115	0.760000	0.33108	-0.258000	0.10820	CTG		0.517	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392884.1	NM_001077239	
DSCAML1	57453	broad.mit.edu	37	11	117307881	117307881	+	Silent	SNP	G	G	A	rs376657003		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:117307881G>A	ENST00000321322.6	-	26	4858	c.4857C>T	c.(4855-4857)tgC>tgT	p.C1619C	DSCAML1_ENST00000527706.1_Silent_p.C1349C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1559					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.C1619C(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TTTCATTGCCGCAGCCCGCAC	0.632																																					p.C1619C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4857T	11						.	G		0,4402		0,0,2201	88.0	82.0	84.0		4857	-1.2	1.0	11		84	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	DSCAML1	NM_020693.2		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		1619/2114	117307881	1,12993	2201	4296	6497	116813091	SO:0001819	synonymous_variant	57453	exon26				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.4857C>T	11.37:g.117307881G>A			116813091	NM_020693	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	CCDS8384.1																																																																																				0.632	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693	
TMPRSS13	84000	broad.mit.edu	37	11	117779368	117779368	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:117779368T>C	ENST00000430170.2	-	9	1328	c.1241A>G	c.(1240-1242)gAc>gGc	p.D414G	TMPRSS13_ENST00000528626.1_Missense_Mutation_p.D379G|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.D414G|TMPRSS13_ENST00000524993.1_Missense_Mutation_p.D414G|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.D414G	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	414	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.D414G(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		GAGGGCGATGTCATAGTCGTC	0.627																																					p.D414G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1241G	11						.						38.0	43.0	41.0					11																	117779368		2150	4253	6403	117284578	SO:0001583	missense	84000	exon9			AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"""Serine peptidases / Transmembrane"""	29808	protein-coding gene	gene with protein product		610050	"""transmembrane protease, serine 11"""	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.1241A>G	11.37:g.117779368T>C	ENSP00000387702:p.Asp414Gly		117284578	NM_001077263	B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Missense_Mutation	SNP	ENST00000430170.2	37	CCDS58185.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.758224	0.89843	.	.	ENSG00000137747	ENST00000528626;ENST00000336500;ENST00000524993;ENST00000430170;ENST00000445164;ENST00000526090	D;D;D;D;D	0.94723	-1.95;-1.95;-1.95;-1.95;-3.5	4.83	4.83	0.62350	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000003	D	0.98435	0.9479	H	0.98769	4.325	0.58432	D	0.999993	D;D;D;D	0.89917	1.0;1.0;0.999;0.998	D;D;D;D	0.87578	0.99;0.998;0.977;0.956	D	0.99414	1.0931	10	0.87932	D	0	.	14.0611	0.64800	0.0:0.0:0.0:1.0	.	409;409;409;414	E9PHM4;Q9BYE2-4;Q9BYE2;E9PRA0	.;.;TMPSD_HUMAN;.	G	379;409;414;414;414;414	ENSP00000435813:D379G;ENSP00000434279:D414G;ENSP00000387702:D414G;ENSP00000394114:D414G;ENSP00000436502:D414G	ENSP00000337113:D409G	D	-	2	0	TMPRSS13	117284578	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.605000	0.82844	1.811000	0.52892	0.533000	0.62120	GAC		0.627	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000392318.1	NM_032046	
UBE4A	9354	broad.mit.edu	37	11	118253321	118253321	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:118253321T>C	ENST00000431736.2	+	13	2120	c.2048T>C	c.(2047-2049)cTg>cCg	p.L683P	UBE4A_ENST00000545354.1_Missense_Mutation_p.L148P|UBE4A_ENST00000252108.3_Missense_Mutation_p.L676P					ubiquitination factor E4A									p.L683P(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AATCCCCACCTGAGGGCCAAA	0.463																																					p.L683P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2048C	11						.						174.0	165.0	168.0					11																	118253321		2200	4296	6496	117758531	SO:0001583	missense	9354	exon13			D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"""U-box domain containing"""	12499	protein-coding gene	gene with protein product		603753	"""ubiquitination factor E4A (homologous to yeast UFD2)"", ""ubiquitination factor E4A (UFD2 homolog, yeast)"""			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.2048T>C	11.37:g.118253321T>C	ENSP00000387362:p.Leu683Pro		117758531	NM_004788		Missense_Mutation	SNP	ENST00000431736.2	37	CCDS8396.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.515910	0.85495	.	.	ENSG00000110344	ENST00000252108;ENST00000431736;ENST00000545354	T;T;T	0.61274	0.12;0.12;0.12	5.77	5.77	0.91146	Ubiquitin conjugation factor E4, core (1);	0.000000	0.85682	D	0.000000	T	0.77758	0.4178	M	0.80332	2.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	T	0.81084	-0.1093	10	0.87932	D	0	-8.1671	16.0907	0.81088	0.0:0.0:0.0:1.0	.	676;683	Q14139;Q14139-2	UBE4A_HUMAN;.	P	676;683;148	ENSP00000252108:L676P;ENSP00000387362:L683P;ENSP00000438918:L148P	ENSP00000252108:L676P	L	+	2	0	UBE4A	117758531	1.000000	0.71417	0.884000	0.34674	0.970000	0.65996	8.040000	0.89188	2.204000	0.70986	0.533000	0.62120	CTG		0.463	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788	
IFT46	56912	broad.mit.edu	37	11	118430544	118430544	+	Start_Codon_SNP	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:118430544T>C	ENST00000264021.3	-	3	419	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	IFT46_ENST00000530872.1_Start_Codon_SNP_p.M1V|IFT46_ENST00000527868.1_5'Flank|IFT46_ENST00000264020.2_Start_Codon_SNP_p.M1V	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	1					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)	p.M1V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						TTATCAGCCATAGCCTTGTTA	0.328																																					p.M1V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1G	11						.						118.0	98.0	105.0					11																	118430544		2200	4295	6495	117935754	SO:0001582	initiator_codon_variant	56912	exon3			AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"""Intraflagellar transport homologs"""	26146	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 32"""		"""chromosome 11 open reading frame 60"", ""intraflagellar transport 46 homolog (Chlamydomonas)"""	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.1A>G	11.37:g.118430544T>C	ENSP00000264021:p.Met1Val		117935754	NM_001168618	A8K0F6|Q9H6V5	Missense_Mutation	SNP	ENST00000264021.3	37	CCDS53718.1	.	.	.	.	.	.	.	.	.	.	T	12.80	2.046194	0.36085	.	.	ENSG00000118096	ENST00000264021;ENST00000264020;ENST00000530872;ENST00000531939;ENST00000534156;ENST00000534114;ENST00000528378;ENST00000533918	T;T;T;T;T;T;T;T	0.54866	1.02;1.03;1.01;1.02;1.02;0.96;0.98;0.55	5.47	4.33	0.51752	.	0.117352	0.52532	D	0.000066	T	0.42177	0.1191	.	.	.	0.80722	D	1	B;B;B	0.22003	0.063;0.003;0.058	B;B;B	0.19391	0.016;0.002;0.025	T	0.37865	-0.9687	9	0.87932	D	0	-0.7076	6.6037	0.22714	0.154:0.0:0.1608:0.6853	.	1;1;1	E9PR06;Q9NQC8;Q9NQC8-2	.;IFT46_HUMAN;.	V	1	ENSP00000264021:M1V;ENSP00000264020:M1V;ENSP00000432384:M1V;ENSP00000435826:M1V;ENSP00000434175:M1V;ENSP00000432982:M1V;ENSP00000435278:M1V;ENSP00000435750:M1V	ENSP00000264020:M1V	M	-	1	0	IFT46	117935754	1.000000	0.71417	0.680000	0.29994	0.966000	0.64601	3.343000	0.52167	0.991000	0.38814	0.459000	0.35465	ATG		0.328	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389627.1	NM_020153	Missense_Mutation
PHLDB1	23187	broad.mit.edu	37	11	118513088	118513088	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:118513088C>T	ENST00000361417.2	+	14	3264	c.2853C>T	c.(2851-2853)ccC>ccT	p.P951P	PHLDB1_ENST00000527898.1_Intron|PHLDB1_ENST00000356063.5_Intron|PHLDB1_ENST00000524713.1_Silent_p.P94P|PHLDB1_ENST00000534672.1_Intron	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	951								p.P951P(1)		breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CGCCTCTGCCCGCCAAAGCTT	0.637																																					p.P951P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2853T	11						.						70.0	72.0	72.0					11																	118513088		2200	4295	6495	118018298	SO:0001819	synonymous_variant	23187	exon13				CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.2853C>T	11.37:g.118513088C>T			118018298	NM_001144758	B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Silent	SNP	ENST00000361417.2	37	CCDS8401.1																																																																																				0.637	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157	
HMBS	3145	broad.mit.edu	37	11	118963495	118963495	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:118963495G>A	ENST00000278715.3	+	12	950	c.799G>A	c.(799-801)Gtg>Atg	p.V267M	HMBS_ENST00000442944.2_Missense_Mutation_p.V250M|HMBS_ENST00000544387.1_Missense_Mutation_p.V227M|HMBS_ENST00000392841.1_Missense_Mutation_p.V250M|HMBS_ENST00000537841.1_Missense_Mutation_p.V250M|HMBS_ENST00000543090.1_Missense_Mutation_p.V236M|HMBS_ENST00000542729.1_Missense_Mutation_p.V210M	NM_000190.3	NP_000181.2	P08397	HEM3_HUMAN	hydroxymethylbilane synthase	267			V -> M (in AIP).		heme biosynthetic process (GO:0006783)|peptidyl-pyrromethane cofactor linkage (GO:0018160)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	hydroxymethylbilane synthase activity (GO:0004418)	p.V267M(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		GCCAGTAGCCGTGCATACAGC	0.542																																					p.V267M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G799A	11	GRCh37	CM970737	HMBS	M		.						86.0	86.0	86.0					11																	118963495		2200	4295	6495	118468705	SO:0001583	missense	3145	exon12			X04808	CCDS8409.1, CCDS41726.1, CCDS58186.1, CCDS58187.1	11q23.3	2013-07-10			ENSG00000256269	ENSG00000256269	2.5.1.61		4982	protein-coding gene	gene with protein product		609806	"""uroporphyrinogen I synthase"", ""porphobilinogen deaminase"", ""porphyria, acute; Chester type"""	PBGD, UPS, PORC		8432552, 17298217	Standard	NM_001258208		Approved		uc001puz.1	P08397	OTTHUMG00000168295	ENST00000278715.3:c.799G>A	11.37:g.118963495G>A	ENSP00000278715:p.Val267Met		118468705	NM_000190	A8K2L0|G3V1P4|G5EA58|P08396|Q16012	Missense_Mutation	SNP	ENST00000278715.3	37	CCDS8409.1	.	.	.	.	.	.	.	.	.	.	g	25.0	4.593677	0.86953	.	.	ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000149397	ENST00000278715;ENST00000537841;ENST00000542729;ENST00000544387;ENST00000543090;ENST00000392841;ENST00000442944	D;D;D;D;D;D;D	0.98666	-5.06;-5.06;-5.06;-5.06;-5.06;-5.06;-5.06	5.23	5.23	0.72850	Porphobilinogen deaminase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99420	0.9795	H	0.95437	3.67	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;1.0;0.996;1.0	D	0.98583	1.0651	10	0.59425	D	0.04	-21.7406	17.9647	0.89097	0.0:0.0:1.0:0.0	.	210;236;227;267	G3V1P4;F5H345;G5EA58;P08397	.;.;.;HEM3_HUMAN	M	267;250;210;227;236;250;250	ENSP00000278715:V267M;ENSP00000444730:V250M;ENSP00000443058:V210M;ENSP00000438424:V227M;ENSP00000445429:V236M;ENSP00000376584:V250M;ENSP00000392041:V250M	ENSP00000392041:V250M	V	+	1	0	CTD-2589C9.4;HMBS	118468705	1.000000	0.71417	0.991000	0.47740	0.948000	0.59901	8.916000	0.92745	2.706000	0.92434	0.651000	0.88453	GTG		0.542	HMBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399188.1	NM_000190	
USP47	55031	broad.mit.edu	37	11	11944367	11944367	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:11944367G>T	ENST00000399455.2	+	12	1495	c.1375G>T	c.(1375-1377)Ggt>Tgt	p.G459C	USP47_ENST00000539466.1_5'UTR|USP47_ENST00000339865.5_Missense_Mutation_p.G371C|USP47_ENST00000527733.1_Missense_Mutation_p.G439C	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	459	USP.				base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)	p.G371C(1)		breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		CAATGATGATGGTGTTGATGA	0.373																																					p.G371C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1111T	11						.						122.0	120.0	121.0					11																	11944367		1902	4128	6030	11900943	SO:0001583	missense	55031	exon10			AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.1375G>T	11.37:g.11944367G>T	ENSP00000382382:p.Gly459Cys		11900943	NM_017944	B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP	ENST00000399455.2	37		.	.	.	.	.	.	.	.	.	.	G	14.24	2.477753	0.44044	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000399455;ENST00000535588	T;T;T	0.04862	3.54;3.54;3.54	5.33	5.33	0.75918	.	0.212079	0.48767	D	0.000161	T	0.09992	0.0245	L	0.52011	1.625	0.80722	D	1	B;B	0.13145	0.007;0.005	B;B	0.13407	0.008;0.009	T	0.06679	-1.0813	10	0.52906	T	0.07	.	18.6215	0.91322	0.0:0.0:1.0:0.0	.	439;371	E9PM46;Q96K76-2	.;.	C	371;439;459;459	ENSP00000339957:G371C;ENSP00000433146:G439C;ENSP00000382382:G459C	ENSP00000339957:G371C	G	+	1	0	USP47	11900943	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.548000	0.82154	2.507000	0.84556	0.467000	0.42956	GGT		0.373	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	NM_017944	
ABCG4	64137	broad.mit.edu	37	11	119029303	119029303	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:119029303A>T	ENST00000449422.2	+	11	1392	c.1204A>T	c.(1204-1206)Att>Ttt	p.I402F	ABCG4_ENST00000307417.3_Missense_Mutation_p.I402F|ABCG4_ENST00000531739.1_Missense_Mutation_p.I402F|AP002956.1_ENST00000599663.1_5'Flank	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	402	ABC transmembrane type-2.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.I402F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCACGTGGTTATTGGCGTGCT	0.562																																					p.I402F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1204T	11						.						227.0	202.0	210.0					11																	119029303		2200	4295	6495	118534513	SO:0001583	missense	64137	exon11			AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1204A>T	11.37:g.119029303A>T	ENSP00000406874:p.Ile402Phe		118534513	NM_001142505	A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	A	18.93	3.727744	0.69074	.	.	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739	T;T;T	0.72282	-0.64;-0.64;-0.64	5.63	5.63	0.86233	ABC-2 type transporter (1);	0.000000	0.85682	D	0.000000	T	0.77116	0.4083	L	0.35644	1.08	0.80722	D	1	D	0.67145	0.996	D	0.69479	0.964	T	0.77629	-0.2516	10	0.46703	T	0.11	-17.8824	15.4927	0.75624	1.0:0.0:0.0:0.0	.	402	Q9H172	ABCG4_HUMAN	F	402	ENSP00000304111:I402F;ENSP00000406874:I402F;ENSP00000434318:I402F	ENSP00000304111:I402F	I	+	1	0	ABCG4	118534513	1.000000	0.71417	0.795000	0.32087	0.626000	0.37791	9.332000	0.96446	2.130000	0.65690	0.533000	0.62120	ATT		0.562	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169	
USP47	55031	broad.mit.edu	37	11	11959817	11959817	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:11959817A>C	ENST00000399455.2	+	19	2271	c.2151A>C	c.(2149-2151)aaA>aaC	p.K717N	USP47_ENST00000539466.1_5'UTR|USP47_ENST00000339865.5_Missense_Mutation_p.K629N|USP47_ENST00000527733.1_Missense_Mutation_p.K697N	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	717					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)	p.K629N(1)		breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TGATGGTGAAAGTTCATGTTG	0.328																																					p.K629N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1887C	11						.						168.0	159.0	162.0					11																	11959817		1866	4093	5959	11916393	SO:0001583	missense	55031	exon17			AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.2151A>C	11.37:g.11959817A>C	ENSP00000382382:p.Lys717Asn		11916393	NM_017944	B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP	ENST00000399455.2	37		.	.	.	.	.	.	.	.	.	.	A	18.41	3.617978	0.66787	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000399455	T;T;T	0.06294	3.32;3.32;3.32	5.83	3.52	0.40303	.	0.000000	0.85682	D	0.000000	T	0.20373	0.0490	M	0.73962	2.25	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.72338	0.948;0.93;0.977	T	0.00295	-1.1839	10	0.38643	T	0.18	.	9.451	0.38725	0.7936:0.0:0.2064:0.0	.	717;697;629	Q96K76;E9PM46;Q96K76-2	UBP47_HUMAN;.;.	N	629;697;717	ENSP00000339957:K629N;ENSP00000433146:K697N;ENSP00000382382:K717N	ENSP00000339957:K629N	K	+	3	2	USP47	11916393	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.692000	0.47018	0.475000	0.27415	0.459000	0.35465	AAA		0.328	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	NM_017944	
PVRL1	5818	broad.mit.edu	37	11	119535676	119535676	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:119535676G>A	ENST00000264025.3	-	6	1865	c.1335C>T	c.(1333-1335)ggC>ggT	p.G445G	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	445	Poly-Gly.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)	p.G445G(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCCCTCCACCGCcctcctcct	0.667																																					p.G445G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1335T	11						.						35.0	30.0	32.0					11																	119535676		2198	4294	6492	119040886	SO:0001819	synonymous_variant	5818	exon6			X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9706	protein-coding gene	gene with protein product	"""nectin"""	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.1335C>T	11.37:g.119535676G>A			119040886	NM_002855	O75465|Q2M3D3|Q9HBE6|Q9HBW2	Silent	SNP	ENST00000264025.3	37	CCDS8426.1																																																																																				0.667	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1		
TECTA	7007	broad.mit.edu	37	11	121023748	121023748	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:121023748C>T	ENST00000392793.1	+	13	4535	c.4264C>T	c.(4264-4266)Ccc>Tcc	p.P1422S	TECTA_ENST00000264037.2_Missense_Mutation_p.P1422S			O75443	TECTA_HUMAN	tectorin alpha	1422	TIL 3.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.P1422S(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CTGCATCCTGCCCCACAGCTG	0.602																																					p.P1422S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4264T	11						.						34.0	33.0	33.0					11																	121023748		2203	4299	6502	120528958	SO:0001583	missense	7007	exon12			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4264C>T	11.37:g.121023748C>T	ENSP00000376543:p.Pro1422Ser		120528958	NM_005422		Missense_Mutation	SNP	ENST00000392793.1	37	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677274	0.68042	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.79845	-1.31;-1.31	5.33	5.33	0.75918	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	0.065945	0.64402	D	0.000008	T	0.79851	0.4517	L	0.37630	1.12	0.39243	D	0.963895	D	0.56968	0.978	P	0.53006	0.715	T	0.75616	-0.3256	10	0.09590	T	0.72	.	19.0251	0.92929	0.0:1.0:0.0:0.0	.	1422	O75443	TECTA_HUMAN	S	1422	ENSP00000376543:P1422S;ENSP00000264037:P1422S	ENSP00000264037:P1422S	P	+	1	0	TECTA	120528958	0.998000	0.40836	1.000000	0.80357	0.975000	0.68041	1.882000	0.39648	2.473000	0.83533	0.563000	0.77884	CCC		0.602	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422	
SORL1	6653	broad.mit.edu	37	11	121429519	121429519	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:121429519G>A	ENST00000260197.7	+	20	3012	c.2883G>A	c.(2881-2883)ccG>ccA	p.P961P		NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	961					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)	p.P961P(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ACAACCTCCCGCACCCCTATG	0.557																																					p.P961P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2883A	11						.						142.0	105.0	117.0					11																	121429519		2203	4299	6502	120934729	SO:0001819	synonymous_variant	6653	exon20			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.2883G>A	11.37:g.121429519G>A			120934729	NM_003105	B2RNX7|Q92856	Silent	SNP	ENST00000260197.7	37	CCDS8436.1																																																																																				0.557	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105	
OR10S1	219873	broad.mit.edu	37	11	123847573	123847573	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:123847573G>A	ENST00000531945.1	-	1	915	c.826C>T	c.(826-828)Cct>Tct	p.P276S		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P276S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		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;0.0399)		CTGGAGCGAGGCTGCAGGTAG	0.602																																					p.P276S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C826T	11						.						77.0	80.0	79.0					11																	123847573		2202	4299	6501	123352783	SO:0001583	missense	219873	exon1			BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"""GPCR / Class A : Olfactory receptors"""	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.826C>T	11.37:g.123847573G>A	ENSP00000431914:p.Pro276Ser		123352783	NM_001004474	B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077650	0.76528	.	.	ENSG00000196248	ENST00000531945	T	0.00262	8.4	4.85	4.85	0.62838	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34986	U	0.003536	T	0.00608	0.0020	M	0.77406	2.37	0.37845	D	0.929171	D	0.89917	1.0	D	0.97110	1.0	T	0.78494	-0.2182	10	0.66056	D	0.02	-11.9196	17.7412	0.88407	0.0:0.0:1.0:0.0	.	276	Q8NGN2	O10S1_HUMAN	S	276	ENSP00000431914:P276S	ENSP00000431914:P276S	P	-	1	0	OR10S1	123352783	0.114000	0.22134	0.997000	0.53966	0.964000	0.63967	0.619000	0.24388	2.521000	0.84997	0.655000	0.94253	CCT		0.602	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474	
OR10G4	390264	broad.mit.edu	37	11	123886858	123886858	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:123886858G>A	ENST00000320891.4	+	1	577	c.577G>A	c.(577-579)Gcc>Acc	p.A193T		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A193T(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		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;0.0401)		AGACACCTCAGCCAACGTGAT	0.527																																					p.A193T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G577A	11						.						241.0	191.0	208.0					11																	123886858		2201	4298	6499	123392068	SO:0001583	missense	390264	exon1			AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.577G>A	11.37:g.123886858G>A	ENSP00000325076:p.Ala193Thr		123392068	NM_001004462	Q6IEW0	Missense_Mutation	SNP	ENST00000320891.4	37	CCDS31702.1	.	.	.	.	.	.	.	.	.	.	g	2.281	-0.364667	0.05103	.	.	ENSG00000254737	ENST00000320891	T	0.00076	8.76	3.33	2.32	0.28847	GPCR, rhodopsin-like superfamily (1);	0.471729	0.17610	N	0.168117	T	0.00073	0.0002	N	0.04275	-0.24	0.09310	N	1	B	0.10296	0.003	B	0.19666	0.026	T	0.05084	-1.0907	10	0.36615	T	0.2	.	6.7822	0.23652	0.1187:0.1733:0.708:0.0	.	193	Q8NGN3	O10G4_HUMAN	T	193	ENSP00000325076:A193T	ENSP00000325076:A193T	A	+	1	0	OR10G4	123392068	0.000000	0.05858	0.001000	0.08648	0.059000	0.15707	-2.047000	0.01408	0.635000	0.30488	0.580000	0.79431	GCC		0.527	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462	
OR8B12	219858	broad.mit.edu	37	11	124413484	124413484	+	Missense_Mutation	SNP	G	G	A	rs368912051		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:124413484G>A	ENST00000306842.2	-	1	91	c.67C>T	c.(67-69)Cgg>Tgg	p.R23W		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R23W(2)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		AGGGGGATCCGCAGTCCCGGC	0.547																																					p.R23W												.	.	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)	c.C67T	11						.	G	TRP/ARG	0,4400		0,0,2200	49.0	53.0	52.0		67	3.9	0.0	11		52	1,8597	1.2+/-3.3	0,1,4298	no	missense	OR8B12	NM_001005195.1	101	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	23/311	124413484	1,12997	2200	4299	6499	123918694	SO:0001583	missense	219858	exon1				CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"""GPCR / Class A : Olfactory receptors"""	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.67C>T	11.37:g.124413484G>A	ENSP00000307159:p.Arg23Trp		123918694	NM_001005195	B2RNF6|Q6IEW8|Q96RC7	Missense_Mutation	SNP	ENST00000306842.2	37	CCDS31711.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.620347	0.28801	0.0	1.16E-4	ENSG00000170953	ENST00000306842	T	0.00448	7.38	3.89	3.89	0.44902	.	0.582775	0.15554	N	0.256255	T	0.00524	0.0017	L	0.45285	1.41	0.09310	N	1	D	0.65815	0.995	P	0.52343	0.696	T	0.60566	-0.7238	10	0.87932	D	0	.	10.4606	0.44577	0.0935:0.0:0.9065:0.0	.	23	Q8NGG6	OR8BC_HUMAN	W	23	ENSP00000307159:R23W	ENSP00000307159:R23W	R	-	1	2	OR8B12	123918694	0.073000	0.21202	0.016000	0.15963	0.201000	0.24016	2.584000	0.46102	2.457000	0.83068	0.650000	0.86243	CGG		0.547	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387061.1		
ESAM	90952	broad.mit.edu	37	11	124624598	124624598	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:124624598G>A	ENST00000278927.5	-	5	798	c.669C>T	c.(667-669)gtC>gtT	p.V223V	VSIG2_ENST00000326621.5_5'Flank|VSIG2_ENST00000403470.1_5'Flank|ESAM_ENST00000442070.2_Silent_p.V44V	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule	223	Ig-like C2-type.				blood coagulation (GO:0007596)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)|single organismal cell-cell adhesion (GO:0016337)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.V223V(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		GGGCCTTGCAGACATAGACTC	0.512																																					p.V223V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C669T	11						.						191.0	172.0	179.0					11																	124624598		2201	4299	6500	124129808	SO:0001819	synonymous_variant	90952	exon5			AK075396	CCDS8453.1	11q24.2	2013-01-29			ENSG00000149564	ENSG00000149564		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17474	protein-coding gene	gene with protein product		614281				11279107, 11906820	Standard	NM_138961		Approved	W117m	uc001qav.4	Q96AP7	OTTHUMG00000151986	ENST00000278927.5:c.669C>T	11.37:g.124624598G>A			124129808	NM_138961	B4DVN8|Q96T50	Silent	SNP	ENST00000278927.5	37	CCDS8453.1																																																																																				0.512	ESAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324686.1	NM_138961	
ROBO3	64221	broad.mit.edu	37	11	124749128	124749128	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:124749128G>C	ENST00000397801.1	+	24	3768	c.3576G>C	c.(3574-3576)caG>caC	p.Q1192H	ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000543966.1_5'UTR|ROBO3_ENST00000538940.1_Missense_Mutation_p.Q1170H	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1192					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)		p.Q1192H(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GTGTATCCCAGCCCATGCTGG	0.632																																					p.Q1192H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3576C	11						.						18.0	24.0	22.0					11																	124749128		1946	4110	6056	124254338	SO:0001583	missense	64221	exon24			AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.3576G>C	11.37:g.124749128G>C	ENSP00000380903:p.Gln1192His		124254338	NM_022370		Missense_Mutation	SNP	ENST00000397801.1	37	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298111	0.60086	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.63744	-0.06;-0.05	4.92	3.02	0.34903	.	0.000000	0.39083	N	0.001471	T	0.50820	0.1638	L	0.50333	1.59	0.80722	D	1	B	0.26081	0.141	B	0.22753	0.041	T	0.47129	-0.9141	10	0.51188	T	0.08	.	6.3692	0.21471	0.0988:0.1863:0.715:0.0	.	1192	Q96MS0	ROBO3_HUMAN	H	1192;1170	ENSP00000380903:Q1192H;ENSP00000441797:Q1170H	ENSP00000380903:Q1192H	Q	+	3	2	ROBO3	124254338	0.996000	0.38824	0.989000	0.46669	0.991000	0.79684	1.646000	0.37249	0.635000	0.30488	0.655000	0.94253	CAG		0.632	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663	
ROBO4	54538	broad.mit.edu	37	11	124756657	124756657	+	Missense_Mutation	SNP	C	C	T	rs138244465		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:124756657C>T	ENST00000306534.3	-	16	2982	c.2497G>A	c.(2497-2499)Gtc>Atc	p.V833I	ROBO4_ENST00000533054.1_Missense_Mutation_p.V688I|RP11-664I21.5_ENST00000524453.1_RNA	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	833					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.V833I(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GCTGTTGGGACGCTGATGTAC	0.632													c|||	1	0.000199681	0.0	0.0	5008	,	,		17769	0.001		0.0	False		,,,				2504	0.0				p.V833I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2497A	11						.		ILE/VAL	0,4402		0,0,2201	66.0	67.0	67.0		2497	-1.4	0.0	11	dbSNP_134	67	3,8595	3.0+/-9.4	0,3,4296	yes	missense	ROBO4	NM_019055.5	29	0,3,6497	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging	833/1008	124756657	3,12997	2201	4299	6500	124261867	SO:0001583	missense	54538	exon16			AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.2497G>A	11.37:g.124756657C>T	ENSP00000304945:p.Val833Ile		124261867	NM_019055	A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	c	1.734	-0.493339	0.04322	0.0	3.49E-4	ENSG00000154133	ENST00000306534;ENST00000533054	T;T	0.62364	0.03;0.39	4.34	-1.42	0.08913	.	1.219600	0.06381	N	0.715299	T	0.35682	0.0940	N	0.11560	0.145	0.09310	N	1	P;B	0.36027	0.533;0.0	B;B	0.31614	0.133;0.0	T	0.12192	-1.0557	10	0.02654	T	1	.	11.8114	0.52185	0.0:0.3982:0.0:0.6018	.	833;833	Q8WZ75-2;Q8WZ75	.;ROBO4_HUMAN	I	833;688	ENSP00000304945:V833I;ENSP00000437129:V688I	ENSP00000304945:V833I	V	-	1	0	ROBO4	124261867	0.022000	0.18835	0.000000	0.03702	0.291000	0.27294	0.068000	0.14531	-0.387000	0.07809	-0.810000	0.03169	GTC		0.632	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055	
CHEK1	1111	broad.mit.edu	37	11	125525192	125525192	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:125525192A>T	ENST00000534070.1	+	13	1663	c.1408A>T	c.(1408-1410)Aag>Tag	p.K470*	CHEK1_ENST00000278916.3_Nonsense_Mutation_p.K426*|CHEK1_ENST00000544373.1_Nonsense_Mutation_p.K436*|CHEK1_ENST00000524737.1_Nonsense_Mutation_p.K470*|CHEK1_ENST00000428830.2_Nonsense_Mutation_p.K470*|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000438015.1_Nonsense_Mutation_p.K470*|CHEK1_ENST00000427383.2_Nonsense_Mutation_p.K486*	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	470	Autoinhibitory region.				cellular response to caffeine (GO:0071313)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to mechanical stimulus (GO:0071260)|chromatin-mediated maintenance of transcription (GO:0048096)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of mitosis (GO:0045839)|peptidyl-threonine phosphorylation (GO:0018107)|regulation of cell proliferation (GO:0042127)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of histone H3-K9 acetylation (GO:2000615)|regulation of mitotic centrosome separation (GO:0046602)|regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010767)|replicative senescence (GO:0090399)	centrosome (GO:0005813)|chromatin (GO:0000785)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	ATP binding (GO:0005524)|histone kinase activity (H3-T11 specific) (GO:0035402)|protein serine/threonine kinase activity (GO:0004674)	p.K470*(1)		central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		GAGCAGCCAGAAGATTTGGCT	0.398								Other conserved DNA damage response genes																													p.K470X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.A1408T	11						.						50.0	52.0	51.0					11																	125525192		2201	4299	6500	125030402	SO:0001587	stop_gained	1111	exon13			AF016582, BC017575	CCDS8459.1, CCDS58191.1	11q24.2	2011-11-11	2011-11-11		ENSG00000149554	ENSG00000149554			1925	protein-coding gene	gene with protein product		603078	"""CHK1 (checkpoint, S.pombe) homolog"", ""CHK1 checkpoint homolog (S. pombe)"""			9278511, 9382850	Standard	NM_001114121		Approved	CHK1	uc001qcg.4	O14757	OTTHUMG00000165853	ENST00000534070.1:c.1408A>T	11.37:g.125525192A>T	ENSP00000435371:p.Lys470*		125030402	NM_001274	A8K934|B4DDD0|B4DSK3|B5BTY6|F5H7S4|H2BI51	Nonsense_Mutation	SNP	ENST00000534070.1	37	CCDS8459.1	.	.	.	.	.	.	.	.	.	.	A	45	11.967395	0.99622	.	.	ENSG00000149554	ENST00000438015;ENST00000427383;ENST00000428830;ENST00000544373;ENST00000534070;ENST00000524737;ENST00000278916	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-19.8574	15.5427	0.76066	1.0:0.0:0.0:0.0	.	.	.	.	X	470;486;470;436;470;470;426	.	ENSP00000278916:K426X	K	+	1	0	CHEK1	125030402	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.311000	0.78958	2.313000	0.78055	0.454000	0.30748	AAG		0.398	CHEK1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386714.1	NM_001274	
KIRREL3	84623	broad.mit.edu	37	11	126314961	126314961	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:126314961G>A	ENST00000525144.2	-	10	1414	c.1165C>T	c.(1165-1167)Cgc>Tgc	p.R389C	KIRREL3_ENST00000525704.2_Missense_Mutation_p.R389C|KIRREL3_ENST00000529097.2_Missense_Mutation_p.R389C	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	389	Ig-like C2-type 4.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R348C(1)		central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TCCTCCTGGCGCACGGATTTG	0.627																																					p.R389C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1165T	11						.						47.0	51.0	50.0					11																	126314961		2080	4205	6285	125820171	SO:0001583	missense	84623	exon10			AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.1165C>T	11.37:g.126314961G>A	ENSP00000435466:p.Arg389Cys		125820171	NM_032531	Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Missense_Mutation	SNP	ENST00000525144.2	37	CCDS53723.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971790	0.74246	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000525704	T;T;T	0.30448	1.53;1.53;1.53	5.26	4.28	0.50868	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.51958	0.1705	M	0.68317	2.08	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.72625	0.966;0.894;0.978	T	0.51687	-0.8674	10	0.51188	T	0.08	.	14.6008	0.68441	0.0:0.0:0.8534:0.1466	.	389;389;389	Q8IZU9-2;E9PRX9;Q8IZU9	.;.;KIRR3_HUMAN	C	389	ENSP00000435466:R389C;ENSP00000434081:R389C;ENSP00000435094:R389C	ENSP00000435466:R389C	R	-	1	0	KIRREL3	125820171	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.651000	0.46674	2.610000	0.88304	0.551000	0.68910	CGC		0.627	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531	
APLP2	334	broad.mit.edu	37	11	129996702	129996702	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:129996702C>T	ENST00000263574.5	+	8	1270	c.1198C>T	c.(1198-1200)Cgg>Tgg	p.R400W	APLP2_ENST00000528499.1_Missense_Mutation_p.R344W|APLP2_ENST00000338167.5_Missense_Mutation_p.R400W|APLP2_ENST00000539648.1_Missense_Mutation_p.R188W|APLP2_ENST00000345598.5_Missense_Mutation_p.R171W|APLP2_ENST00000278756.7_Missense_Mutation_p.R410W|APLP2_ENST00000543137.1_Missense_Mutation_p.R307W	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	400					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)	p.R400W(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		GCTGGAGATTCGGCACCGCAA	0.458																																					p.R400W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1198T	11						.						158.0	140.0	146.0					11																	129996702		2201	4297	6498	129501912	SO:0001583	missense	334	exon8			L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.1198C>T	11.37:g.129996702C>T	ENSP00000263574:p.Arg400Trp		129501912	NM_001642	B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000263574.5	37	CCDS8486.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114757	0.77210	.	.	ENSG00000084234	ENST00000528499;ENST00000539648;ENST00000263574;ENST00000345598;ENST00000338167;ENST00000278756;ENST00000543137	T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86	5.39	5.39	0.77823	Amyloidogenic glycoprotein, E2 domain (2);	0.000000	0.85682	D	0.000000	T	0.66046	0.2750	M	0.68593	2.085	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.995;1.0;0.999;1.0;0.999;0.999;0.999	P;D;P;D;D;P;D	0.77004	0.691;0.989;0.888;0.988;0.954;0.886;0.948	T	0.68792	-0.5315	10	0.87932	D	0	-15.8419	13.7261	0.62759	0.1639:0.836:0.0:0.0	.	188;400;344;171;338;344;400	F5H845;Q06481;Q06481-2;Q06481-5;B4E3I5;Q06481-4;Q06481-3	.;APLP2_HUMAN;.;.;.;.;.	W	344;188;400;171;400;410;307	ENSP00000435914:R344W;ENSP00000443728:R188W;ENSP00000263574:R400W;ENSP00000263575:R171W;ENSP00000345444:R400W;ENSP00000278756:R410W;ENSP00000444122:R307W	ENSP00000263574:R400W	R	+	1	2	APLP2	129501912	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	2.981000	0.49329	2.533000	0.85409	0.561000	0.74099	CGG		0.458	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	NM_001642	
ZBTB44	29068	broad.mit.edu	37	11	130131657	130131657	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:130131657G>A	ENST00000357899.4	-	2	384	c.112C>T	c.(112-114)Cag>Tag	p.Q38*	ZBTB44_ENST00000397753.1_Nonsense_Mutation_p.Q38*|ZBTB44_ENST00000530205.1_Nonsense_Mutation_p.Q38*|ZBTB44_ENST00000525842.1_Nonsense_Mutation_p.Q38*			Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	38	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q38*(1)		autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		ATTTTGTCCTGGACACGAATA	0.438																																					p.Q38X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C112T	11						.						134.0	128.0	130.0					11																	130131657		1919	4134	6053	129636867	SO:0001587	stop_gained	29068	exon2			AK024659	CCDS44776.1, CCDS73414.1, CCDS73415.1	11q24.3	2013-01-08	2006-09-19	2006-09-19		ENSG00000196323		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	25001	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 15"""	BTBD15		11042152	Standard	NM_014155		Approved	HSPC063, ZNF851	uc001qgb.4	Q8NCP5		ENST00000357899.4:c.112C>T	11.37:g.130131657G>A	ENSP00000350574:p.Gln38*		129636867	NM_014155	Q6IPT8|Q86VJ7|Q86XX5	Nonsense_Mutation	SNP	ENST00000357899.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.898851|5.898851	0.97081|0.97081	.|.	.|.	ENSG00000196323|ENSG00000196323	ENST00000527478|ENST00000525842;ENST00000397753;ENST00000445008;ENST00000357899;ENST00000530205	.|.	.|.	.|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.79064|.	0.4383|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.73836|.	-0.3857|.	3|.	.|0.33940	.|T	.|0.23	.|.	20.6593|20.6593	0.99626|0.99626	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	L|X	34|38	.|.	.|ENSP00000350574:Q38X	P|Q	-|-	2|1	0|0	ZBTB44|ZBTB44	129636867|129636867	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.434000|9.434000	0.97515|0.97515	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	CCA|CAG		0.438	ZBTB44-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000386126.1	NM_014155	
ADAMTS8	11095	broad.mit.edu	37	11	130289105	130289105	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:130289105A>T	ENST00000257359.6	-	2	1509	c.803T>A	c.(802-804)gTa>gAa	p.V268E		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	268	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V268E(2)|p.V297E(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CAGCACTTTTACCACCATCAG	0.512																																					p.V268E												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.T803A	11						.						124.0	127.0	126.0					11																	130289105		1944	4144	6088	129794315	SO:0001583	missense	11095	exon2			AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.803T>A	11.37:g.130289105A>T	ENSP00000257359:p.Val268Glu		129794315	NM_007037	Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.176880	0.78564	.	.	ENSG00000134917	ENST00000257359;ENST00000414575	T	0.66099	-0.19	5.76	5.76	0.90799	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.053420	0.85682	D	0.000000	D	0.84005	0.5377	M	0.92970	3.365	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88041	0.2781	10	0.87932	D	0	.	16.0766	0.80971	1.0:0.0:0.0:0.0	.	268	Q9UP79	ATS8_HUMAN	E	268;297	ENSP00000257359:V268E	ENSP00000257359:V268E	V	-	2	0	ADAMTS8	129794315	1.000000	0.71417	0.869000	0.34112	0.453000	0.32348	9.287000	0.95975	2.202000	0.70862	0.533000	0.62120	GTA		0.512	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037	
IGSF9B	22997	broad.mit.edu	37	11	133790548	133790548	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:133790548C>T	ENST00000321016.8	-	18	3302	c.3072G>A	c.(3070-3072)acG>acA	p.T1024T	IGSF9B_ENST00000533871.2_Silent_p.T1024T			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1024	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.T480T(1)|p.T1024T(1)		breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TCAAGGGCAGCGTGCTGTTGG	0.667																																					p.T1024T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G3072A	11						.						62.0	71.0	68.0					11																	133790548		2077	4219	6296	133295758	SO:0001819	synonymous_variant	22997	exon18			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.3072G>A	11.37:g.133790548C>T			133295758	NM_014987	G5EA26	Silent	SNP	ENST00000321016.8	37																																																																																					0.667	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502	
IGSF9B	22997	broad.mit.edu	37	11	133799569	133799569	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:133799569A>G	ENST00000321016.8	-	12	1858	c.1628T>C	c.(1627-1629)gTt>gCt	p.V543A	IGSF9B_ENST00000533871.2_Missense_Mutation_p.V543A			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	543	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.V543A(1)		breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TCCGTACCAAACTGAGAATGT	0.627																																					p.V543A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1628C	11						.						116.0	135.0	128.0					11																	133799569		2105	4207	6312	133304779	SO:0001583	missense	22997	exon12			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.1628T>C	11.37:g.133799569A>G	ENSP00000317980:p.Val543Ala		133304779	NM_014987	G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37		.	.	.	.	.	.	.	.	.	.	A	34	5.350195	0.95830	.	.	ENSG00000080854	ENST00000321016;ENST00000533871;ENST00000527648	T;T;T	0.68624	-0.34;-0.34;-0.34	5.52	5.52	0.82312	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82660	0.5085	M	0.87180	2.865	0.58432	D	0.999999	P	0.49862	0.929	P	0.61328	0.887	D	0.85269	0.1055	9	0.56958	D	0.05	.	15.6485	0.77073	1.0:0.0:0.0:0.0	.	543	Q9UPX0	TUTLB_HUMAN	A	543;385;543	ENSP00000317980:V543A;ENSP00000436552:V385A;ENSP00000436576:V543A	ENSP00000317980:V543A	V	-	2	0	IGSF9B	133304779	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.424000	0.80242	2.091000	0.63221	0.533000	0.62120	GTT		0.627	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502	
ART1	417	broad.mit.edu	37	11	3680879	3680879	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:3680879G>A	ENST00000250693.1	+	3	231	c.130G>A	c.(130-132)Gcc>Acc	p.A44T		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	44					innate immune response (GO:0045087)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.A44T(1)		endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)		CATGGCCCTGGCCTCCTTTGA	0.587																																					p.A44T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G130A	11						.						54.0	51.0	52.0					11																	3680879		2201	4298	6499	3637455	SO:0001583	missense	417	exon3			S74683	CCDS7744.1	11p15	2006-02-23			ENSG00000129744	ENSG00000129744		"""CD molecules"""	723	protein-coding gene	gene with protein product		601625				8812442	Standard	NM_004314		Approved	ART2, CD296	uc001lye.1	P52961	OTTHUMG00000011845	ENST00000250693.1:c.130G>A	11.37:g.3680879G>A	ENSP00000250693:p.Ala44Thr		3637455	NM_004314	Q6NTD2|Q96KT9	Missense_Mutation	SNP	ENST00000250693.1	37	CCDS7744.1	.	.	.	.	.	.	.	.	.	.	G	3.187	-0.166685	0.06461	.	.	ENSG00000129744	ENST00000250693	T	0.08546	3.08	5.53	0.211	0.15236	.	0.603495	0.18947	N	0.126786	T	0.05044	0.0135	L	0.31294	0.92	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.40924	-0.9537	9	.	.	.	.	4.6866	0.12760	0.4314:0.0:0.4268:0.1417	.	44	P52961	NAR1_HUMAN	T	44	ENSP00000250693:A44T	.	A	+	1	0	ART1	3637455	0.000000	0.05858	0.060000	0.19600	0.015000	0.08874	-0.038000	0.12144	-0.223000	0.09943	-0.444000	0.05651	GCC		0.587	ART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032765.1	NM_004314	
OR52A5	390054	broad.mit.edu	37	11	5153806	5153806	+	Missense_Mutation	SNP	C	C	G	rs199860788		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:5153806C>G	ENST00000307388.1	-	1	66	c.67G>C	c.(67-69)Gag>Cag	p.E23Q		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	23					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E23Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGCACTGACTCCAGACCAGGA	0.393																																					p.E23Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G67C	11						.						71.0	69.0	70.0					11																	5153806		2201	4298	6499	5110382	SO:0001583	missense	390054	exon1			BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"""GPCR / Class A : Olfactory receptors"""	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.67G>C	11.37:g.5153806C>G	ENSP00000303469:p.Glu23Gln		5110382	NM_001005160		Missense_Mutation	SNP	ENST00000307388.1	37	CCDS31373.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.266651	0.23136	.	.	ENSG00000171944	ENST00000307388	T	0.03004	4.08	5.21	4.29	0.51040	.	0.151375	0.30686	N	0.009084	T	0.04952	0.0133	L	0.41027	1.25	0.34462	D	0.701826	P	0.39847	0.691	B	0.37833	0.259	T	0.28744	-1.0034	10	0.72032	D	0.01	.	14.4809	0.67582	0.0:0.8426:0.1574:0.0	.	23	Q9H2C5	O52A5_HUMAN	Q	23	ENSP00000303469:E23Q	ENSP00000303469:E23Q	E	-	1	0	OR52A5	5110382	0.065000	0.20965	1.000000	0.80357	0.052000	0.14988	0.153000	0.16323	1.406000	0.46857	0.650000	0.86243	GAG		0.393	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142823.1	NM_001005160	
OR51V1	283111	broad.mit.edu	37	11	5221797	5221797	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:5221797G>A	ENST00000321255.1	-	1	133	c.134C>T	c.(133-135)gCc>gTc	p.A45V		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	45					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A45V(1)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGCACCATGGCATAGATTGA	0.507																																					p.A45V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C134T	11						.						128.0	116.0	120.0					11																	5221797		2201	4298	6499	5178373	SO:0001583	missense	283111	exon1			BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.134C>T	11.37:g.5221797G>A	ENSP00000321729:p.Ala45Val		5178373	NM_001004760		Missense_Mutation	SNP	ENST00000321255.1	37	CCDS31375.1	.	.	.	.	.	.	.	.	.	.	G	1.435	-0.569295	0.03910	.	.	ENSG00000176742	ENST00000321255	T	0.02837	4.14	5.48	0.44	0.16572	.	0.160288	0.29239	N	0.012731	T	0.02012	0.0063	L	0.35487	1.065	0.09310	N	1	B	0.12013	0.005	B	0.17979	0.02	T	0.49184	-0.8966	10	0.11794	T	0.64	.	5.3997	0.16288	0.4463:0.1393:0.4144:0.0	.	45	Q9H2C8	O51V1_HUMAN	V	45	ENSP00000321729:A45V	ENSP00000321729:A45V	A	-	2	0	OR51V1	5178373	0.000000	0.05858	0.046000	0.18839	0.105000	0.19272	0.832000	0.27490	-0.058000	0.13177	-0.172000	0.13284	GCC		0.507	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760	
HBE1	3046	broad.mit.edu	37	11	5290789	5290789	+	Silent	SNP	A	A	G	rs202129332		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:5290789A>G	ENST00000380237.1	-	4	554	c.210T>C	c.(208-210)acT>acC	p.T70T	HBE1_ENST00000292896.2_Silent_p.T70T|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron			P02100	HBE_HUMAN	hemoglobin, epsilon 1	70					blood coagulation (GO:0007596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein heterooligomerization (GO:0051291)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)	p.T70T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCCAAAGGAAGTCAGCACCT	0.517																																					p.T70T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T210C	11						.						133.0	120.0	124.0					11																	5290789		2201	4297	6498	5247365	SO:0001819	synonymous_variant	3046	exon2			BC015537	CCDS7756.1	11p15.5	2012-10-02			ENSG00000213931	ENSG00000213931			4830	protein-coding gene	gene with protein product		142100				2649166	Standard	NM_005330		Approved	HBE	uc001mal.1	P02100	OTTHUMG00000066675	ENST00000380237.1:c.210T>C	11.37:g.5290789A>G			5247365	NM_005330	Q6FH44	Silent	SNP	ENST00000380237.1	37	CCDS7756.1																																																																																				0.517	HBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142973.2	NM_005330	
HBE1	3046	broad.mit.edu	37	11	5290884	5290884	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:5290884T>G	ENST00000380237.1	-	4	459	c.115A>C	c.(115-117)Acc>Ccc	p.T39P	HBE1_ENST00000292896.2_Missense_Mutation_p.T39P|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron			P02100	HBE_HUMAN	hemoglobin, epsilon 1	39					blood coagulation (GO:0007596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein heterooligomerization (GO:0051291)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)	p.T39P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATCTCTGGGTCCAGGGGTAA	0.468																																					p.T39P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A115C	11						.						63.0	64.0	64.0					11																	5290884		2201	4297	6498	5247460	SO:0001583	missense	3046	exon2			BC015537	CCDS7756.1	11p15.5	2012-10-02			ENSG00000213931	ENSG00000213931			4830	protein-coding gene	gene with protein product		142100				2649166	Standard	NM_005330		Approved	HBE	uc001mal.1	P02100	OTTHUMG00000066675	ENST00000380237.1:c.115A>C	11.37:g.5290884T>G	ENSP00000369586:p.Thr39Pro		5247460	NM_005330	Q6FH44	Missense_Mutation	SNP	ENST00000380237.1	37	CCDS7756.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.903007	0.92035	.	.	ENSG00000213931	ENST00000380237;ENST00000292896;ENST00000396895	D;D;D	0.89939	-2.59;-2.59;-2.59	6.02	6.02	0.97574	Globin-like (1);Globin, structural domain (1);	0.000000	0.85682	U	0.000000	D	0.96744	0.8937	H	0.98005	4.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98121	1.0425	10	0.87932	D	0	-29.9875	15.4206	0.75009	0.0:0.0:0.0:1.0	.	39	P02100	HBE_HUMAN	P	39	ENSP00000369586:T39P;ENSP00000292896:T39P;ENSP00000380104:T39P	ENSP00000292896:T39P	T	-	1	0	HBE1	5247460	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.670000	0.83925	2.319000	0.78375	0.524000	0.50904	ACC		0.468	HBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142973.2	NM_005330	
OR51B6	390058	broad.mit.edu	37	11	5373427	5373427	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:5373427A>G	ENST00000380219.1	+	1	690	c.690A>G	c.(688-690)ggA>ggG	p.G230G	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	230					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G230G(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTTCTGGAGGAGAAAGGGCCA	0.413																																					p.G230G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A690G	11						.						218.0	194.0	202.0					11																	5373427		2201	4297	6498	5330003	SO:0001819	synonymous_variant	390058	exon1				CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"""GPCR / Class A : Olfactory receptors"""	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.690A>G	11.37:g.5373427A>G			5330003	NM_001004750		Silent	SNP	ENST00000380219.1	37	CCDS31379.1																																																																																				0.413	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142960.1	NM_001004750	
UBQLNL	143630	broad.mit.edu	37	11	5537069	5537069	+	Silent	SNP	C	C	T	rs199511572	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:5537069C>T	ENST00000380184.1	-	1	866	c.603G>A	c.(601-603)acG>acA	p.T201T	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	201								p.T201T(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		TCAATTGTTGCGTGTCTAGAT	0.483													C|||	6	0.00119808	0.0	0.0	5008	,	,		21068	0.001		0.0	False		,,,				2504	0.0051				p.T201T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G603A	11						.						133.0	132.0	132.0					11																	5537069		2201	4297	6498	5493645	SO:0001819	synonymous_variant	143630	exon1			AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"""Ubiquilin family"""	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.603G>A	11.37:g.5537069C>T			5493645	NM_145053	Q6ZRU1|Q96EK3|Q96MB0	Silent	SNP	ENST00000380184.1	37	CCDS31385.1																																																																																				0.483	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143386.1	NM_145053	
TRIM6	117854	broad.mit.edu	37	11	5632555	5632555	+	Missense_Mutation	SNP	C	C	T	rs151311625	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:5632555C>T	ENST00000278302.5	+	8	1590	c.1450C>T	c.(1450-1452)Cgt>Tgt	p.R484C	TRIM6_ENST00000380097.3_Missense_Mutation_p.R512C|TRIM6-TRIM34_ENST00000354852.5_Intron|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000507320.1_Missense_Mutation_p.R309C|TRIM6_ENST00000506134.1_Missense_Mutation_p.R309C|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000515022.1_Missense_Mutation_p.R309C|TRIM6_ENST00000380107.1_Missense_Mutation_p.R458C|TRIM6_ENST00000481603.1_3'UTR|TRIM6_ENST00000445329.1_Missense_Mutation_p.R309C	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	484	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.R512C(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		TATGACCCTGCGTCGTCCAAG	0.413																																					p.R512C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1534T	11						.	C	CYS/ARG,,CYS/ARG,CYS/ARG,CYS/ARG	4,4398	8.1+/-20.4	0,4,2197	114.0	113.0	114.0		1534,,925,925,1450	2.1	0.9	11	dbSNP_134	114	19,8575	14.0+/-48.4	0,19,4278	yes	missense,intron,missense,missense,missense	TRIM6,TRIM6-TRIM34	NM_001003818.2,NM_001003819.3,NM_001198644.1,NM_001198645.1,NM_058166.4	180,,180,180,180	0,23,6475	TT,TC,CC		0.2211,0.0909,0.177	,,,,	512/517,,309/314,309/314,484/489	5632555	23,12973	2201	4297	6498	5589131	SO:0001583	missense	117854	exon8			AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16277	protein-coding gene	gene with protein product		607564	"""tripartite motif-containing 6"""			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.1450C>T	11.37:g.5632555C>T	ENSP00000278302:p.Arg484Cys		5589131	NM_001003818	A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Missense_Mutation	SNP	ENST00000278302.5	37	CCDS31390.1	.	.	.	.	.	.	.	.	.	.	C	0.405	-0.916407	0.02415	9.09E-4	0.002211	ENSG00000121236	ENST00000278302;ENST00000507320;ENST00000380107;ENST00000380097;ENST00000445329;ENST00000396867;ENST00000515022;ENST00000506134	T;T;T;T;T;T;T	0.61392	0.15;0.34;0.23;0.11;0.34;0.34;0.34	4.07	2.14	0.27477	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.16214	0.0390	N	0.00278	-1.715	0.27397	N	0.954958	B;B;B	0.21821	0.031;0.061;0.028	B;B;B	0.18561	0.022;0.019;0.019	T	0.34204	-0.9838	9	0.02654	T	1	.	6.6194	0.22794	0.1792:0.7222:0.0:0.0987	.	458;512;484	E9PFM0;Q9C030-2;Q9C030	.;.;TRIM6_HUMAN	C	484;309;458;512;309;391;309;309	ENSP00000278302:R484C;ENSP00000427704:R309C;ENSP00000369450:R458C;ENSP00000369440:R512C;ENSP00000399215:R309C;ENSP00000421802:R309C;ENSP00000421079:R309C	ENSP00000278302:R484C	R	+	1	0	TRIM6	5589131	0.881000	0.30235	0.887000	0.34795	0.267000	0.26476	0.841000	0.27613	0.651000	0.30788	0.491000	0.48974	CGT		0.413	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143376.2	NM_001003818	
TRIM22	10346	broad.mit.edu	37	11	5727830	5727830	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:5727830A>T	ENST00000379965.3	+	5	1034	c.757A>T	c.(757-759)Att>Ttt	p.I253F	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	253					defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.I253F(1)		kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		CCAGGATGTGATTGACGTCAT	0.353																																					p.I249F	GBM(104;491 2336 5222)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A745T	11						.						156.0	138.0	144.0					11																	5727830		1825	4078	5903	5684406	SO:0001583	missense	10346	exon5			X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16379	protein-coding gene	gene with protein product		606559	"""tripartite motif-containing 22"""			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.757A>T	11.37:g.5727830A>T	ENSP00000369299:p.Ile253Phe		5684406	NM_001199573	Q05CQ0|Q15521	Missense_Mutation	SNP	ENST00000379965.3	37	CCDS41612.1	.	.	.	.	.	.	.	.	.	.	A	8.730	0.916420	0.17907	.	.	ENSG00000132274	ENST00000379965;ENST00000545338;ENST00000454828;ENST00000455293;ENST00000450670	T;T;T	0.32272	3.56;3.56;1.46	3.59	-2.51	0.06365	.	.	.	.	.	T	0.18676	0.0448	L	0.38531	1.155	0.09310	N	1	B;B;B;B	0.11235	0.002;0.003;0.004;0.004	B;B;B;B	0.12156	0.003;0.003;0.007;0.002	T	0.31194	-0.9952	9	0.62326	D	0.03	.	1.3564	0.02183	0.3668:0.3495:0.1132:0.1705	.	175;221;249;253	F8WAP8;C9JWC5;Q8IYM9-2;Q8IYM9	.;.;.;TRI22_HUMAN	F	253;64;221;175;3	ENSP00000369299:I253F;ENSP00000393250:I221F;ENSP00000406412:I3F	ENSP00000369299:I253F	I	+	1	0	TRIM22	5684406	0.568000	0.26635	0.002000	0.10522	0.539000	0.34962	0.821000	0.27338	-0.600000	0.05790	0.383000	0.25322	ATT		0.353	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	NM_006074	
OR56A3	390083	broad.mit.edu	37	11	5969127	5969127	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:5969127C>T	ENST00000329564.6	+	1	558	c.551C>T	c.(550-552)gCc>gTc	p.A184V	AC025016.1_ENST00000528915.1_lincRNA	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A184V(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCATCTGTGCCAATATGTCT	0.448																																					p.A184V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C551T	11						.						107.0	107.0	107.0					11																	5969127		2166	4283	6449	5925703	SO:0001583	missense	390083	exon1				CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"""GPCR / Class A : Olfactory receptors"""	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.551C>T	11.37:g.5969127C>T	ENSP00000331572:p.Ala184Val		5925703	NM_001003443	A6NN77|Q6IFF7	Missense_Mutation	SNP	ENST00000329564.6	37	CCDS41614.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.433989	0.43224	.	.	ENSG00000184478	ENST00000329564	T	0.00107	8.72	5.13	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.322715	0.26804	N	0.022418	T	0.00300	0.0009	L	0.42686	1.345	0.22412	N	0.999122	P	0.45240	0.854	P	0.59012	0.85	T	0.51756	-0.8665	10	0.87932	D	0	-49.4553	11.8271	0.52273	0.3182:0.6818:0.0:0.0	.	184	Q8NH54	O56A3_HUMAN	V	184	ENSP00000331572:A184V	ENSP00000331572:A184V	A	+	2	0	OR56A3	5925703	0.000000	0.05858	0.735000	0.30896	0.071000	0.16799	0.386000	0.20702	1.378000	0.46305	0.650000	0.86243	GCC		0.448	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443	
OR56A4	120793	broad.mit.edu	37	11	6023891	6023891	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:6023891delA	ENST00000330728.4	-	1	533	c.488delT	c.(487-489)ttgfs	p.L163fs		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	111						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L163fs*1(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCCATGGTCAAAAAACTGTT	0.512																																					p.L163X												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.488delT	11						.						78.0	71.0	73.0					11																	6023891		2201	4296	6497	5980467	SO:0001589	frameshift_variant	120793	exon1			BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"""GPCR / Class A : Olfactory receptors"""	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.488delT	11.37:g.6023891delA	ENSP00000328215:p.Leu163fs		5980467	NM_001005179	B9EH17	Frame_Shift_Del	DEL	ENST00000330728.4	37	CCDS31404.1																																																																																				0.512	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2	NM_001005179	
SMPD1	6609	broad.mit.edu	37	11	6413142	6413142	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:6413142G>A	ENST00000342245.4	+	2	1015	c.847G>A	c.(847-849)Gca>Aca	p.A283T	SMPD1_ENST00000299397.3_Missense_Mutation_p.A283T|SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000527275.1_Missense_Mutation_p.A282T|SMPD1_ENST00000356761.2_Missense_Mutation_p.A283T	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	281					cell death (GO:0008219)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of MAP kinase activity (GO:0043407)|nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein dephosphorylation (GO:0035307)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)|sphingomyelin metabolic process (GO:0006684)|termination of signal transduction (GO:0023021)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lamellar body (GO:0042599)|lysosomal lumen (GO:0043202)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)	p.A283T(2)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Amlodipine(DB00381)|Chlorpromazine(DB00477)|Desipramine(DB01151)	AGACATCCCCGCACATGATGT	0.617																																					p.A282T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G844A	11	GRCh37	CM042117	SMPD1	M		.						96.0	106.0	103.0					11																	6413142		2201	4296	6497	6369718	SO:0001583	missense	6609	exon2			AB209775	CCDS31409.1, CCDS44531.1, CCDS31409.2	11p15.4-p15.1	2010-04-28	2008-02-04		ENSG00000166311	ENSG00000166311	3.1.4.12		11120	protein-coding gene	gene with protein product	"""acid sphingomyelinase"""	607608				1711683	Standard	NM_000543		Approved	ASM	uc001mcw.3	P17405	OTTHUMG00000165453	ENST00000342245.4:c.847G>A	11.37:g.6413142G>A	ENSP00000340409:p.Ala283Thr		6369718	NM_001007593	A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	Missense_Mutation	SNP	ENST00000342245.4	37	CCDS44531.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902460	0.72754	.	.	ENSG00000166311	ENST00000299397;ENST00000356761;ENST00000342245;ENST00000530395;ENST00000527275	D;D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92;-1.92	5.13	5.13	0.70059	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.90731	0.7091	L	0.56396	1.775	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74023	0.975;0.978;0.982	D	0.91385	0.5130	10	0.62326	D	0.03	-21.4766	17.142	0.86756	0.0:0.0:1.0:0.0	.	282;283;281	E9PKS3;G3XAB5;P17405	.;.;ASM_HUMAN	T	283;283;283;10;282	ENSP00000299397:A283T;ENSP00000349203:A283T;ENSP00000340409:A283T;ENSP00000431479:A10T;ENSP00000435350:A282T	ENSP00000299397:A283T	A	+	1	0	SMPD1	6369718	1.000000	0.71417	0.972000	0.41901	0.343000	0.28985	9.227000	0.95236	2.398000	0.81561	0.561000	0.74099	GCA		0.617	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384205.1	NM_000543	
APBB1	322	broad.mit.edu	37	11	6432128	6432128	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:6432128C>A	ENST00000609360.1	-	2	549	c.450G>T	c.(448-450)gaG>gaT	p.E150D	APBB1_ENST00000389906.2_Missense_Mutation_p.E150D|APBB1_ENST00000311051.3_Missense_Mutation_p.E150D|APBB1_ENST00000299402.6_Missense_Mutation_p.E150D	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	150					apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)	p.E150D(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		ccgccttctcctctccctcAT	0.622																																					p.E150D	GBM(147;1810 2556 5672 39622)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G450T	11						.						55.0	57.0	57.0					11																	6432128		2200	4295	6495	6388704	SO:0001583	missense	322	exon2			L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.450G>T	11.37:g.6432128C>A	ENSP00000477213:p.Glu150Asp		6388704	NM_001164	A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37		.	.	.	.	.	.	.	.	.	.	C	10.52	1.372460	0.24857	.	.	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906	T;T;T	0.15372	2.43;2.43;2.43	5.07	2.45	0.29901	.	0.244133	0.32106	N	0.006569	T	0.12732	0.0309	N	0.19112	0.55	0.27677	N	0.946553	P	0.52692	0.955	P	0.48454	0.578	T	0.06679	-1.0813	10	0.37606	T	0.19	-8.6327	6.9978	0.24793	0.0:0.6977:0.0:0.3023	.	150	O00213-2	.	D	150	ENSP00000299402:E150D;ENSP00000311912:E150D;ENSP00000374556:E150D	ENSP00000299402:E150D	E	-	3	2	APBB1	6388704	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	1.072000	0.30678	0.895000	0.36342	0.393000	0.25936	GAG		0.622	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164	
HPX	3263	broad.mit.edu	37	11	6452969	6452969	+	Missense_Mutation	SNP	C	C	T	rs142045379		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:6452969C>T	ENST00000265983.3	-	9	1131	c.1031G>A	c.(1030-1032)cGg>cAg	p.R344Q		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	344					cellular iron ion homeostasis (GO:0006879)|heme metabolic process (GO:0042168)|heme transport (GO:0015886)|hemoglobin metabolic process (GO:0020027)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|viral process (GO:0016032)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme transporter activity (GO:0015232)|metal ion binding (GO:0046872)	p.R344Q(1)		endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		CTTCTCCAGCCGCTTCGGATA	0.527																																					p.R344Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1031A	11						.	C	GLN/ARG	0,4402		0,0,2201	90.0	97.0	94.0		1031	1.0	1.0	11	dbSNP_134	94	1,8591	1.2+/-3.3	0,1,4295	no	missense	HPX	NM_000613.2	43	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign	344/463	6452969	1,12993	2201	4296	6497	6409545	SO:0001583	missense	3263	exon9			J03048	CCDS7763.1	11p15.5-p15.4	2012-10-02			ENSG00000110169	ENSG00000110169			5171	protein-coding gene	gene with protein product		142290				2989777, 2842511	Standard	NM_000613		Approved		uc001mdg.2	P02790	OTTHUMG00000133399	ENST00000265983.3:c.1031G>A	11.37:g.6452969C>T	ENSP00000265983:p.Arg344Gln		6409545	NM_000613	B2R957	Missense_Mutation	SNP	ENST00000265983.3	37	CCDS7763.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.584852	0.28268	0.0	1.16E-4	ENSG00000110169	ENST00000265983	T	0.02498	4.27	5.49	1.01	0.19927	Hemopexin/matrixin (2);	0.359297	0.31031	N	0.008399	T	0.01870	0.0059	L	0.29908	0.895	0.26092	N	0.980931	B	0.20780	0.048	B	0.08055	0.003	T	0.48364	-0.9042	10	0.12766	T	0.61	-14.2574	5.6546	0.17635	0.0:0.5141:0.1388:0.3471	.	344	P02790	HEMO_HUMAN	Q	344	ENSP00000265983:R344Q	ENSP00000265983:R344Q	R	-	2	0	HPX	6409545	0.000000	0.05858	0.998000	0.56505	0.884000	0.51177	-0.416000	0.07097	0.306000	0.22856	-0.369000	0.07265	CGG		0.527	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257256.1	NM_000613	
ARFIP2	23647	broad.mit.edu	37	11	6499303	6499303	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:6499303C>T	ENST00000254584.2	-	6	746	c.663G>A	c.(661-663)acG>acA	p.T221T	ARFIP2_ENST00000445086.2_Silent_p.T136T|ARFIP2_ENST00000423813.2_Silent_p.T183T|ARFIP2_ENST00000396777.3_Silent_p.T221T	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	221	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|lamellipodium assembly (GO:0030032)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|Rac GTPase binding (GO:0048365)	p.T221T(1)		endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAGTCATGAGCGTGTCTTCCA	0.512																																					p.T221T	Melanoma(119;796 1674 9049 20480 24794)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G663A	11						.						146.0	127.0	134.0					11																	6499303		2201	4296	6497	6455879	SO:0001819	synonymous_variant	23647	exon6			BC000392	CCDS7765.1, CCDS55739.1, CCDS55740.1, CCDS73250.1	11p15	2008-08-01	2008-08-01		ENSG00000132254	ENSG00000132254			17160	protein-coding gene	gene with protein product	"""arfaptin 2"""	601638				8670882, 9038142	Standard	NM_012402		Approved	POR1	uc010ran.2	P53365	OTTHUMG00000133406	ENST00000254584.2:c.663G>A	11.37:g.6499303C>T			6455879	NM_012402	B4DX86|B4E306|D3DQT5	Silent	SNP	ENST00000254584.2	37	CCDS7765.1																																																																																				0.512	ARFIP2-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387044.1	NM_012402	
RRP8	23378	broad.mit.edu	37	11	6623320	6623320	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:6623320G>A	ENST00000254605.6	-	2	342	c.225C>T	c.(223-225)tgC>tgT	p.C75C	ILK_ENST00000537806.1_5'Flank|ILK_ENST00000528995.1_5'Flank|RRP8_ENST00000534343.1_Intron|RP11-732A19.8_ENST00000527191.1_RNA|ILK_ENST00000299421.4_5'Flank|ILK_ENST00000420936.2_5'Flank|ILK_ENST00000396751.2_5'Flank	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	75					cellular response to glucose starvation (GO:0042149)|chromatin modification (GO:0016568)|chromatin silencing at rDNA (GO:0000183)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription by glucose (GO:0046015)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|rDNA heterochromatin (GO:0033553)	methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.C75C(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						CCTTTTTGGGGCATTTCTTCT	0.512																																					p.C75C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C225T	11						.						99.0	95.0	96.0					11																	6623320		2201	4296	6497	6579896	SO:0001819	synonymous_variant	23378	exon2			AB007869	CCDS31411.1	11p15.4	2009-02-23	2009-02-23	2009-02-23	ENSG00000132275	ENSG00000132275			29030	protein-coding gene	gene with protein product	RRP8 methyltransferase homolog (S. cerevisiae)	615818	"""KIAA0409"""	KIAA0409		9455477	Standard	NM_015324		Approved		uc001med.3	O43159		ENST00000254605.6:c.225C>T	11.37:g.6623320G>A			6579896	NM_015324	Q7KZ78|Q9BVM6	Silent	SNP	ENST00000254605.6	37	CCDS31411.1																																																																																				0.512	RRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384505.1	NM_015324	
OR2D3	120775	broad.mit.edu	37	11	6942839	6942839	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:6942839C>T	ENST00000317834.3	+	1	635	c.607C>T	c.(607-609)Ctg>Ttg	p.L203L		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L203L(1)|p.L203M(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCTCCTGAAGCTGGCTTCCAT	0.453																																					p.L203L												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(2)	c.C607T	11						.						109.0	93.0	99.0					11																	6942839		2201	4296	6497	6899415	SO:0001819	synonymous_variant	120775	exon1			BK004294	CCDS31417.1	11p15.4	2012-08-09			ENSG00000178358	ENSG00000178358		"""GPCR / Class A : Olfactory receptors"""	15146	protein-coding gene	gene with protein product							Standard	NM_001004684		Approved		uc010rav.2	Q8NGH3	OTTHUMG00000165742	ENST00000317834.3:c.607C>T	11.37:g.6942839C>T			6899415	NM_001004684	B2RP06|Q6IFG8|Q96R51	Silent	SNP	ENST00000317834.3	37	CCDS31417.1																																																																																				0.453	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385987.1	NM_001004684	
OLFML1	283298	broad.mit.edu	37	11	7530779	7530779	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:7530779C>T	ENST00000329293.3	+	3	963	c.569C>T	c.(568-570)gCa>gTa	p.A190V	CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000528758.1_3'UTR|OLFML1_ENST00000530135.1_Missense_Mutation_p.A190V	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	190	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.					extracellular region (GO:0005576)		p.A190V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TGGGAATTTGCAAACATACGG	0.448																																					p.A190V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C569T	11						.						104.0	100.0	101.0					11																	7530779		2201	4296	6497	7487355	SO:0001583	missense	283298	exon3			AY358591	CCDS7779.1	11p15	2008-02-05			ENSG00000183801	ENSG00000183801			24473	protein-coding gene	gene with protein product							Standard	NM_198474		Approved	UNQ564	uc001mfi.3	Q6UWY5	OTTHUMG00000165527	ENST00000329293.3:c.569C>T	11.37:g.7530779C>T	ENSP00000332511:p.Ala190Val		7487355	NM_198474	B4DP03|Q569G4	Missense_Mutation	SNP	ENST00000329293.3	37	CCDS7779.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.448865	0.63178	.	.	ENSG00000183801	ENST00000530135;ENST00000329293	D;D	0.89415	-2.51;-2.51	5.78	5.78	0.91487	Olfactomedin-like (3);	0.454838	0.24759	N	0.035838	D	0.89368	0.6695	M	0.73217	2.22	0.80722	D	1	P;P	0.43788	0.606;0.817	B;B	0.41988	0.372;0.372	D	0.89139	0.3515	10	0.42905	T	0.14	.	17.5078	0.87750	0.0:1.0:0.0:0.0	.	54;190	B4DN61;Q6UWY5	.;OLFL1_HUMAN	V	190	ENSP00000433455:A190V;ENSP00000332511:A190V	ENSP00000332511:A190V	A	+	2	0	OLFML1	7487355	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.887000	0.48586	2.724000	0.93272	0.563000	0.77884	GCA		0.448	OLFML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384656.1	NM_198474	
EIF3F	8665	broad.mit.edu	37	11	8013337	8013337	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:8013337A>T	ENST00000533626.1	+	4	1000	c.374A>T	c.(373-375)gAc>gTc	p.D125V	EIF3F_ENST00000449102.2_Intron|EIF3F_ENST00000309828.4_Missense_Mutation_p.D125V|EIF3F_ENST00000537635.1_Missense_Mutation_p.D140V					eukaryotic translation initiation factor 3, subunit F									p.D125V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGAACTGTCGACAAACACTCA	0.443																																					p.D125V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A374T	11						.						206.0	196.0	199.0					11																	8013337		2201	4296	6497	7969913	SO:0001583	missense	8665	exon2			U94855, AK093511	CCDS7785.1	11p15.4	2010-03-10	2007-07-27	2007-07-27	ENSG00000175390	ENSG00000175390			3275	protein-coding gene	gene with protein product		603914	"""eukaryotic translation initiation factor 3, subunit 5 epsilon, 47kDa"""	EIF3S5		9341143	Standard	NM_003754		Approved	eIF3-epsilon, eIF3-p47, eIF3f	uc001mfw.3	O00303		ENST00000533626.1:c.374A>T	11.37:g.8013337A>T	ENSP00000431800:p.Asp125Val		7969913	NM_003754		Missense_Mutation	SNP	ENST00000533626.1	37	CCDS7785.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.967800	0.74131	.	.	ENSG00000175390	ENST00000533626;ENST00000537635;ENST00000309828;ENST00000538607	T;T;T	0.54675	0.56;0.56;0.56	4.39	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.56572	0.1994	M	0.64404	1.975	0.80722	D	1	P	0.41673	0.759	P	0.46585	0.521	T	0.60255	-0.7299	10	0.51188	T	0.08	0.0465	12.2253	0.54457	1.0:0.0:0.0:0.0	.	125	O00303	EIF3F_HUMAN	V	125;140;125;75	ENSP00000431800:D125V;ENSP00000442283:D140V;ENSP00000310040:D125V	ENSP00000310040:D125V	D	+	2	0	EIF3F	7969913	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.956000	0.76013	1.929000	0.55896	0.533000	0.62120	GAC		0.443	EIF3F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385713.2	NM_003754	
ST5	6764	broad.mit.edu	37	11	8724229	8724229	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:8724229C>A	ENST00000534127.1	-	17	2995	c.2610G>T	c.(2608-2610)gaG>gaT	p.E870D	ST5_ENST00000534278.1_Missense_Mutation_p.E61D|ST5_ENST00000530991.1_Missense_Mutation_p.E342D|ST5_ENST00000313726.6_Missense_Mutation_p.E870D|ST5_ENST00000357665.1_Missense_Mutation_p.E870D|ST5_ENST00000526757.1_Missense_Mutation_p.E450D|ST5_ENST00000530438.1_Missense_Mutation_p.E450D|ST5_ENST00000526099.1_Missense_Mutation_p.E383D|RPL27A_ENST00000531102.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	870	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.E870D(1)		NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		AGTCCACGTGCTCCAGCCTTG	0.617																																					p.E870D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2610T	11						.						77.0	71.0	73.0					11																	8724229		2201	4296	6497	8680805	SO:0001583	missense	6764	exon17			U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.2610G>T	11.37:g.8724229C>A	ENSP00000433528:p.Glu870Asp		8680805	NM_005418	B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	c	22.1	4.237649	0.79800	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000534278;ENST00000530438;ENST00000533081;ENST00000533020	T;T;T;T;T;T;T;T;T;T	0.35048	2.69;2.69;2.69;2.69;2.69;2.69;2.69;2.69;2.69;1.33	4.72	3.8	0.43715	DENN (3);	0.000000	0.85682	D	0.000000	T	0.59998	0.2235	M	0.86420	2.815	0.51233	D	0.99991	P;D;D	0.62365	0.707;0.991;0.987	P;D;D	0.69654	0.858;0.931;0.965	T	0.65788	-0.6083	10	0.87932	D	0	-15.3836	9.3453	0.38104	0.0:0.7738:0.0:0.2262	.	383;450;870	B4DDL8;P78524-2;P78524	.;.;ST5_HUMAN	D	450;870;870;342;870;383;61;450;60;342	ENSP00000435097:E450D;ENSP00000433528:E870D;ENSP00000319678:E870D;ENSP00000432887:E342D;ENSP00000350294:E870D;ENSP00000436808:E383D;ENSP00000433349:E61D;ENSP00000436802:E450D;ENSP00000436067:E60D;ENSP00000433588:E342D	ENSP00000319678:E870D	E	-	3	2	ST5	8680805	0.994000	0.37717	1.000000	0.80357	0.968000	0.65278	0.417000	0.21214	2.165000	0.68154	0.486000	0.48141	GAG		0.617	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418	
BTBD10	84280	broad.mit.edu	37	11	13443280	13443280	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:13443280G>A	ENST00000278174.5	-	3	452	c.207C>T	c.(205-207)gaC>gaT	p.D69D	BTBD10_ENST00000532261.1_5'UTR|BTBD10_ENST00000528120.1_Silent_p.D21D|BTBD10_ENST00000530907.1_Silent_p.D77D	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	69						nucleus (GO:0005634)		p.D69D(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		CTCGTGATCTGTCACTTGACC	0.453																																					p.D69D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C207T	11						.						142.0	116.0	125.0					11																	13443280		2200	4294	6494	13399856	SO:0001819	synonymous_variant	84280	exon3			AY221959	CCDS7811.1, CCDS73261.1	11p15.2	2013-01-24			ENSG00000148925	ENSG00000148925		"""BTB/POZ domain containing"""	21445	protein-coding gene	gene with protein product		615933				15556295	Standard	XM_005253164		Approved	GMRP1, GMRP-1, MGC13007	uc001mkz.3	Q9BSF8	OTTHUMG00000165787	ENST00000278174.5:c.207C>T	11.37:g.13443280G>A			13399856	NM_032320	B7Z228|Q86WG1	Silent	SNP	ENST00000278174.5	37	CCDS7811.1																																																																																				0.453	BTBD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386200.1	NM_032320	
INSC	387755	broad.mit.edu	37	11	15212347	15212347	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:15212347G>A	ENST00000379554.3	+	6	867	c.821G>A	c.(820-822)cGc>cAc	p.R274H	INSC_ENST00000525218.1_Missense_Mutation_p.R227H|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000530161.1_Missense_Mutation_p.R227H|INSC_ENST00000424273.1_Missense_Mutation_p.R227H|INSC_ENST00000379556.3_Missense_Mutation_p.R227H|INSC_ENST00000528567.1_Missense_Mutation_p.R227H	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	274					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)		p.R274H(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						CCCTTGTGCCGCATCATAGCC	0.532																																					p.R227H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G680A	11						.						94.0	97.0	96.0					11																	15212347		1927	4143	6070	15168923	SO:0001583	missense	387755	exon6			AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.821G>A	11.37:g.15212347G>A	ENSP00000368872:p.Arg274His		15168923	NM_001042536	A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	ENST00000379554.3	37	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.979790	0.53827	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000416761;ENST00000528567;ENST00000530161;ENST00000525218	T;T;T;T;T;T	0.50277	0.76;0.76;0.75;0.76;0.76;0.75	6.16	6.16	0.99307	Armadillo-like helical (1);Armadillo-type fold (1);	0.046793	0.85682	D	0.000000	T	0.34135	0.0887	N	0.19112	0.55	0.46317	D	0.998986	P;B;B;B	0.34662	0.462;0.107;0.236;0.236	B;B;B;B	0.27608	0.081;0.009;0.039;0.039	T	0.12091	-1.0561	10	0.42905	T	0.14	-28.8201	17.7766	0.88510	0.0:0.0:1.0:0.0	.	262;227;227;274	Q1MX18-5;Q1MX18-4;A0PJX5;Q1MX18	.;.;.;INSC_HUMAN	H	274;227;227;262;227;227;227	ENSP00000368872:R274H;ENSP00000368874:R227H;ENSP00000389161:R227H;ENSP00000435022:R227H;ENSP00000436194:R227H;ENSP00000436113:R227H	ENSP00000368872:R274H	R	+	2	0	INSC	15168923	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.592000	0.61027	2.937000	0.99478	0.650000	0.86243	CGC		0.532	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853	
ABCC8	6833	broad.mit.edu	37	11	17418532	17418532	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:17418532G>A	ENST00000389817.3	-	33	4118	c.4050C>T	c.(4048-4050)agC>agT	p.S1350S	ABCC8_ENST00000302539.4_Silent_p.S1351S			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1350	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)	p.S1350S(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CGTAGCGCACGCTCAGGTTCT	0.632																																					p.S1350S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4050T	11						.						131.0	106.0	115.0					11																	17418532		2200	4293	6493	17375108	SO:0001819	synonymous_variant	6833	exon33			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.4050C>T	11.37:g.17418532G>A			17375108	NM_000352	A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	ENST00000389817.3	37	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.419416	0.25552	.	.	ENSG00000006071	ENST00000528374	.	.	.	4.83	-5.18	0.02840	.	.	.	.	.	T	0.63474	0.2514	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64437	-0.6408	4	.	.	.	.	15.3056	0.73990	0.7055:0.0:0.2945:0.0	.	.	.	.	C	178	.	.	R	-	1	0	ABCC8	17375108	0.948000	0.32251	0.951000	0.38953	0.985000	0.73830	0.162000	0.16501	-0.999000	0.03442	-0.226000	0.12346	CGT		0.632	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352	
SPTY2D1	144108	broad.mit.edu	37	11	18631439	18631439	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:18631439C>T	ENST00000336349.5	-	6	2262	c.2027G>A	c.(2026-2028)cGt>cAt	p.R676H	SPTY2D1-AS1_ENST00000501599.2_RNA	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	676								p.R676H(1)		breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						GGCCCTTCGACGTTGCATTTC	0.423																																					p.R676H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2027A	11						.						214.0	205.0	208.0					11																	18631439		2199	4293	6492	18588015	SO:0001583	missense	144108	exon6			BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.2027G>A	11.37:g.18631439C>T	ENSP00000337991:p.Arg676His		18588015	NM_194285	Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Missense_Mutation	SNP	ENST00000336349.5	37	CCDS31441.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.622828	0.66787	.	.	ENSG00000179119	ENST00000336349	T	0.48836	0.8	5.69	5.69	0.88448	.	0.060881	0.64402	D	0.000015	T	0.67646	0.2915	M	0.82517	2.595	0.44771	D	0.997774	D	0.89917	1.0	D	0.65773	0.938	T	0.68731	-0.5331	10	0.42905	T	0.14	-8.9739	12.3166	0.54960	0.0:0.9225:0.0:0.0775	.	676	Q68D10	SPT2_HUMAN	H	676	ENSP00000337991:R676H	ENSP00000337991:R676H	R	-	2	0	SPTY2D1	18588015	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.348000	0.44045	2.698000	0.92095	0.655000	0.94253	CGT		0.423	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	NM_194285	
NAV2	89797	broad.mit.edu	37	11	20065797	20065797	+	Missense_Mutation	SNP	G	G	A	rs372482203		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:20065797G>A	ENST00000396087.3	+	14	3346	c.3247G>A	c.(3247-3249)Gca>Aca	p.A1083T	NAV2_ENST00000349880.4_Missense_Mutation_p.A1060T|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000360655.4_Missense_Mutation_p.A996T|NAV2_ENST00000396085.1_Missense_Mutation_p.A1060T|NAV2_ENST00000540292.1_Missense_Mutation_p.A1014T|NAV2_ENST00000527559.2_Missense_Mutation_p.A1012T|NAV2_ENST00000311043.8_Missense_Mutation_p.A146T|NAV2_ENST00000533917.1_Missense_Mutation_p.A146T	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1083					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.A1083T(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CCCGGCAGGCGCACTGAAGAC	0.557																																					p.A996T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2986A	11						.	G	THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	34.0	33.0	33.0		2986,436,3178,3178	-4.6	0.0	11		33	0,8600		0,0,4300	no	missense,missense,missense,missense	NAV2	NM_001111018.1,NM_001111019.1,NM_145117.4,NM_182964.5	58,58,58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign	996/2366,146/1494,1060/2430,1060/2433	20065797	1,13005	2203	4300	6503	20022373	SO:0001583	missense	89797	exon13			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.3247G>A	11.37:g.20065797G>A	ENSP00000379396:p.Ala1083Thr		20022373	NM_001111018	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.877331	0.33162	2.27E-4	0.0	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000530408;ENST00000311043;ENST00000536595	T;T;T;T;T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15	5.51	-4.58	0.03410	.	0.715719	0.12880	N	0.431532	T	0.16557	0.0398	N	0.16656	0.425	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.0;0.001;0.001;0.001	B;B;B;B;B	0.04013	0.0;0.001;0.001;0.001;0.001	T	0.21759	-1.0236	9	.	.	.	.	7.6096	0.28122	0.7132:0.0:0.1886:0.0982	.	1083;146;146;1060;996	Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	NAV2_HUMAN;.;.;.;.	T	996;1060;1060;1083;1012;1014;146;146;146;146;146	ENSP00000353871:A996T;ENSP00000379394:A1060T;ENSP00000309577:A1060T;ENSP00000379396:A1083T;ENSP00000435395:A1012T;ENSP00000443489:A1014T;ENSP00000437316:A146T;ENSP00000437136:A146T;ENSP00000431276:A146T;ENSP00000312169:A146T	.	A	+	1	0	NAV2	20022373	0.000000	0.05858	0.000000	0.03702	0.222000	0.24845	-0.621000	0.05559	-1.276000	0.02414	-0.140000	0.14226	GCA		0.557	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117	
NAV2	89797	broad.mit.edu	37	11	20136218	20136218	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:20136218G>A	ENST00000396087.3	+	40	7317	c.7218G>A	c.(7216-7218)caG>caA	p.Q2406Q	NAV2_ENST00000349880.4_Silent_p.Q2347Q|NAV2_ENST00000360655.4_Silent_p.Q2283Q|NAV2_ENST00000396085.1_Silent_p.Q2350Q|NAV2_ENST00000540292.1_Silent_p.Q2337Q|NAV2_ENST00000527559.2_Silent_p.Q2335Q|NAV2_ENST00000311043.8_Silent_p.Q1411Q|NAV2_ENST00000533917.1_Silent_p.Q1411Q	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2406					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.Q2406Q(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GCCCACAACAGCACGAGTGGC	0.612																																					p.Q2283Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G6849A	11						.						78.0	62.0	67.0					11																	20136218		2203	4300	6503	20092794	SO:0001819	synonymous_variant	89797	exon37			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.7218G>A	11.37:g.20136218G>A			20092794	NM_001111018	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	CCDS58126.1																																																																																				0.612	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117	
SLC5A12	159963	broad.mit.edu	37	11	26725393	26725393	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:26725393T>C	ENST00000396005.3	-	5	936	c.627A>G	c.(625-627)ggA>ggG	p.G209G	SLC5A12_ENST00000280467.6_Silent_p.G209G	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	209					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.G209G(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CATTGTGGAATCCCCCAGCAT	0.388																																					p.G209G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A627G	11						.						237.0	222.0	227.0					11																	26725393		2203	4299	6502	26681969	SO:0001819	synonymous_variant	159963	exon5			BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.627A>G	11.37:g.26725393T>C			26681969	NM_178498	Q86UC7	Silent	SNP	ENST00000396005.3	37	CCDS7860.2																																																																																				0.388	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498	
CCDC34	91057	broad.mit.edu	37	11	27384432	27384432	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:27384432C>T	ENST00000328697.6	-	1	983	c.310G>A	c.(310-312)Gag>Aag	p.E104K	CCDC34_ENST00000317945.6_Missense_Mutation_p.E104K	NM_030771.1	NP_110398.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	104								p.E104K(1)		endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						ACTTTGGCCTCTGAATCATGG	0.572																																					p.E104K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G310A	11						.						164.0	145.0	152.0					11																	27384432		2202	4299	6501	27341008	SO:0001583	missense	91057	exon1			AF382034	CCDS7863.1, CCDS31448.1	11p14.1	2010-03-30			ENSG00000109881	ENSG00000109881			25079	protein-coding gene	gene with protein product		612324				11173847	Standard	NM_080654		Approved	NY-REN-41, L15, RAMA3	uc001mrh.1	Q96HJ3	OTTHUMG00000166211	ENST00000328697.6:c.310G>A	11.37:g.27384432C>T	ENSP00000330240:p.Glu104Lys		27341008	NM_030771	B2R8G2|Q8IX69|Q9H2A6|Q9Y599	Missense_Mutation	SNP	ENST00000328697.6	37	CCDS31448.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969237	0.53614	.	.	ENSG00000109881	ENST00000328697;ENST00000317945	T;T	0.24350	1.86;1.86	4.78	3.86	0.44501	.	0.000000	0.42964	D	0.000630	T	0.36193	0.0958	L	0.50333	1.59	0.09310	N	1	D;P	0.57257	0.979;0.762	P;P	0.56563	0.801;0.565	T	0.09975	-1.0650	10	0.52906	T	0.07	-0.3372	11.085	0.48082	0.0:0.8126:0.1874:0.0	.	104;104	Q96HJ3-2;Q96HJ3	.;CCD34_HUMAN	K	104	ENSP00000330240:E104K;ENSP00000321563:E104K	ENSP00000321563:E104K	E	-	1	0	CCDC34	27341008	0.027000	0.19231	0.015000	0.15790	0.005000	0.04900	1.106000	0.31098	1.333000	0.45449	0.655000	0.94253	GAG		0.572	CCDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388396.2	NM_030771	
KCNA4	3739	broad.mit.edu	37	11	30033563	30033563	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:30033563delA	ENST00000328224.6	-	2	1896	c.663delT	c.(661-663)tttfs	p.F221fs	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	221					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.F221fs*21(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	GGTTCCTGTCAAAAAAATACT	0.468																																					p.F221fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.663delT	11						.						72.0	67.0	69.0					11																	30033563		1865	4113	5978	29990139	SO:0001589	frameshift_variant	3739	exon2			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.663delT	11.37:g.30033563delA	ENSP00000328511:p.Phe221fs		29990139	NM_002233		Frame_Shift_Del	DEL	ENST00000328224.6	37	CCDS41629.1																																																																																				0.468	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233	
WT1	7490	broad.mit.edu	37	11	32413574	32413574	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:32413574T>G	ENST00000379079.2	-	9	1013	c.740A>C	c.(739-741)aAg>aCg	p.K247T	WT1_ENST00000448076.3_Missense_Mutation_p.K459T|WT1_ENST00000530998.1_Missense_Mutation_p.K230T|WT1_ENST00000332351.3_Missense_Mutation_p.K459T	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	391					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.V380_S410del(1)|p.K391_S393>T(1)|p.K391T(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			CCGGGAGAACTTTCGCTGACA	0.448			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																												p.K247T		yes	Rec	yes	"""Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"""	11	11p13	7490	Wilms tumour 1 gene		O	.	.	3	Substitution - Missense(1)|Complex - deletion inframe(1)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)	c.A740C	11						.						185.0	179.0	181.0					11																	32413574		2202	4299	6501	32370150	SO:0001583	missense	7490	exon9	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"""Zinc fingers, C2H2-type"""	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.740A>C	11.37:g.32413574T>G	ENSP00000368370:p.Lys247Thr		32370150	NM_001198551	A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Missense_Mutation	SNP	ENST00000379079.2	37	CCDS55751.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.6|22.6	4.310822|4.310822	0.81358|0.81358	.|.	.|.	ENSG00000184937|ENSG00000184937	ENST00000527882|ENST00000379079;ENST00000332351;ENST00000530998;ENST00000452863;ENST00000448076	.|T;T;T;T;T	.|0.16597	.|2.33;2.33;2.33;2.33;2.33	6.04|6.04	4.89|4.89	0.63831|0.63831	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000|0.000000	0.64402|0.64402	U|U	0.000001|0.000001	T|T	0.21103|0.21103	0.0508|0.0508	N|N	0.04705|0.04705	-0.18|-0.18	0.52099|0.52099	D|D	0.999948|0.999948	.|D;D;D;D;D	.|0.71674	.|0.998;0.993;0.996;0.996;0.991	.|D;D;D;D;D	.|0.78314	.|0.985;0.991;0.989;0.973;0.98	T|T	0.21930|0.21930	-1.0231|-1.0231	6|10	.|0.46703	.|T	.|0.11	.|.	13.3962|13.3962	0.60853|0.60853	0.0:0.0:0.1314:0.8686|0.0:0.0:0.1314:0.8686	.|.	.|447;391;464;230;247	.|P19544-8;P19544;P19544-7;B3KSA5;P19544-6	.|.;WT1_HUMAN;.;.;.	N|T	119|247;459;230;442;459	.|ENSP00000368370:K247T;ENSP00000331327:K459T;ENSP00000435307:K230T;ENSP00000415516:K442T;ENSP00000413452:K459T	.|ENSP00000331327:K459T	K|K	-|-	3|2	2|0	WT1|WT1	32370150|32370150	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.209000|6.209000	0.72171|0.72171	1.079000|1.079000	0.41038|0.41038	0.459000|0.459000	0.35465|0.35465	AAA|AAG		0.448	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000095434.1	NM_000378	
RAG1	5896	broad.mit.edu	37	11	36596423	36596423	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:36596423G>A	ENST00000299440.5	+	2	1681	c.1569G>A	c.(1567-1569)caG>caA	p.Q523Q		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	523					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q523Q(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TTGAGTGGCAGCCACCTCTGA	0.498									Familial Hemophagocytic Lymphohistiocytosis																												p.Q523Q	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1569A	11						.						103.0	99.0	100.0					11																	36596423		2202	4298	6500	36552999	SO:0001819	synonymous_variant	5896	exon2	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.1569G>A	11.37:g.36596423G>A			36552999	NM_000448	E9PPC4|Q8IY72|Q8NER2	Silent	SNP	ENST00000299440.5	37	CCDS7902.1																																																																																				0.498	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448	
LRP4	4038	broad.mit.edu	37	11	46897130	46897130	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:46897130T>C	ENST00000378623.1	-	27	4044	c.3802A>G	c.(3802-3804)Act>Gct	p.T1268A	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1268					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)	p.T1268A(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TGCCAGTCAGTCCAGTAGATA	0.567																																					p.T1268A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3802G	11						.						85.0	66.0	72.0					11																	46897130		2201	4299	6500	46853706	SO:0001583	missense	4038	exon27			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.3802A>G	11.37:g.46897130T>C	ENSP00000367888:p.Thr1268Ala		46853706	NM_002334	B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.932394	0.92389	.	.	ENSG00000134569	ENST00000378623	D	0.90004	-2.6	5.83	5.83	0.93111	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.92024	0.7473	M	0.73753	2.245	0.80722	D	1	P	0.46952	0.887	P	0.51945	0.685	D	0.91464	0.5191	10	0.39692	T	0.17	.	16.1883	0.81967	0.0:0.0:0.0:1.0	.	1268	O75096	LRP4_HUMAN	A	1268	ENSP00000367888:T1268A	ENSP00000367888:T1268A	T	-	1	0	LRP4	46853706	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.026000	0.88783	2.231000	0.72958	0.454000	0.30748	ACT		0.567	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334	
OR4P4	81300	broad.mit.edu	37	11	55405951	55405951	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:55405951A>G	ENST00000314612.2	+	1	118	c.118A>G	c.(118-120)Aac>Gac	p.N40D		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N40D(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TTGGATGGGAAACTTACTCAT	0.383																																					p.N40D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A118G	11						.						153.0	135.0	141.0					11																	55405951		2181	4029	6210	55162527	SO:0001583	missense	81300	exon1			AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.118A>G	11.37:g.55405951A>G	ENSP00000324831:p.Asn40Asp		55162527	NM_001004124		Missense_Mutation	SNP	ENST00000314612.2	37	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	A	17.35	3.367623	0.61513	.	.	ENSG00000181927	ENST00000314612	T	0.75704	-0.96	5.09	5.09	0.68999	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000447	D	0.88797	0.6534	H	0.94808	3.585	0.40480	D	0.980439	D	0.69078	0.997	D	0.64595	0.927	D	0.92223	0.5786	10	0.87932	D	0	-13.3986	13.8399	0.63432	1.0:0.0:0.0:0.0	.	40	Q8NGL7	OR4P4_HUMAN	D	40	ENSP00000324831:N40D	ENSP00000324831:N40D	N	+	1	0	OR4P4	55162527	1.000000	0.71417	0.552000	0.28243	0.241000	0.25554	5.673000	0.68109	1.932000	0.55993	0.509000	0.49947	AAC		0.383	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124	
OR4P4	81300	broad.mit.edu	37	11	55406283	55406283	+	Silent	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:55406283A>T	ENST00000314612.2	+	1	450	c.450A>T	c.(448-450)ggA>ggT	p.G150G		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G150G(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GTACTGGGGGATTTATACATT	0.423																																					p.G150G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A450T	11						.						77.0	66.0	70.0					11																	55406283		2179	4008	6187	55162859	SO:0001819	synonymous_variant	81300	exon1			AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.450A>T	11.37:g.55406283A>T			55162859	NM_001004124		Silent	SNP	ENST00000314612.2	37	CCDS31504.1																																																																																				0.423	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124	
TRIM51	84767	broad.mit.edu	37	11	55655690	55655690	+	Nonsense_Mutation	SNP	T	T	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:55655690T>G	ENST00000449290.2	+	4	782	c.690T>G	c.(688-690)taT>taG	p.Y230*	TRIM51_ENST00000244891.3_Nonsense_Mutation_p.Y87*	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	230						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.Y71*(1)|p.Y230*(1)									GAGGAATGTATGAGGATCTGA	0.453																																					p.Y230X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.T690G	11						.						47.0	43.0	45.0					11																	55655690		2199	4290	6489	55412266	SO:0001587	stop_gained	84767	exon4			BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.690T>G	11.37:g.55655690T>G	ENSP00000395086:p.Tyr230*		55412266	NM_032681	A6NMG2	Nonsense_Mutation	SNP	ENST00000449290.2	37		.	.	.	.	.	.	.	.	.	.	.	10.60	1.396903	0.25205	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	.	.	.	0.757	0.757	0.18427	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.8345	0.08888	0.0:0.0:0.0:1.0	.	.	.	.	X	230;87	.	ENSP00000244891:Y87X	Y	+	3	2	SPRYD5	55412266	0.008000	0.16893	0.008000	0.14137	0.474000	0.32979	-0.587000	0.05780	0.594000	0.29761	0.128000	0.15822	TAT		0.453	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681	
OR5W2	390148	broad.mit.edu	37	11	55681707	55681707	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:55681707T>A	ENST00000344514.1	-	1	351	c.352A>T	c.(352-354)Atg>Ttg	p.M118L		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M118L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TCAAAGGCCATCACTGACAGC	0.458																																					p.M118L	Melanoma(48;171 1190 15239 43886 49348)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A352T	11						.						92.0	90.0	91.0					11																	55681707		2201	4296	6497	55438283	SO:0001583	missense	390148	exon1			BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.352A>T	11.37:g.55681707T>A	ENSP00000342448:p.Met118Leu		55438283	NM_001001960		Missense_Mutation	SNP	ENST00000344514.1	37	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.728529	0.89390	.	.	ENSG00000187612	ENST00000344514	T	0.00892	5.57	5.01	5.01	0.66863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000155	T	0.05273	0.0140	H	0.94462	3.54	0.40828	D	0.983564	P	0.52463	0.953	P	0.50162	0.633	T	0.02042	-1.1224	10	0.87932	D	0	.	13.5617	0.61793	0.0:0.0:0.0:1.0	.	118	Q8NH69	OR5W2_HUMAN	L	118	ENSP00000342448:M118L	ENSP00000342448:M118L	M	-	1	0	OR5W2	55438283	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.987000	0.76206	1.874000	0.54306	0.448000	0.29417	ATG		0.458	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960	
OR5T2	219464	broad.mit.edu	37	11	56000486	56000486	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:56000486T>G	ENST00000313264.4	-	1	251	c.176A>C	c.(175-177)aAt>aCt	p.N59T		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N59T(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					CAGTTCAAGATTGTCTGTGAA	0.368																																					p.N59T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A176C	11						.						70.0	61.0	64.0					11																	56000486		2201	4296	6497	55757062	SO:0001583	missense	219464	exon1			AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.176A>C	11.37:g.56000486T>G	ENSP00000323688:p.Asn59Thr		55757062	NM_001004746	B9EGX5|Q6IFC8	Missense_Mutation	SNP	ENST00000313264.4	37	CCDS31523.1	.	.	.	.	.	.	.	.	.	.	T	11.68	1.711260	0.30322	.	.	ENSG00000181718	ENST00000313264	T	0.01068	5.38	4.77	0.67	0.17923	.	0.434069	0.16796	U	0.199196	T	0.00998	0.0033	L	0.28400	0.85	0.09310	N	1	B	0.29301	0.241	B	0.32533	0.147	T	0.48127	-0.9062	10	0.33940	T	0.23	.	3.2026	0.06655	0.4356:0.1775:0.0:0.3869	.	59	Q8NGG2	OR5T2_HUMAN	T	59	ENSP00000323688:N59T	ENSP00000323688:N59T	N	-	2	0	OR5T2	55757062	0.000000	0.05858	0.000000	0.03702	0.113000	0.19764	-0.124000	0.10595	0.263000	0.21812	0.375000	0.23000	AAT		0.368	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746	
OR8H1	219469	broad.mit.edu	37	11	56057803	56057803	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:56057803C>A	ENST00000313022.2	-	1	763	c.736G>T	c.(736-738)Gga>Tga	p.G246*		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	246						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G246*(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)					ATGGTGACTCCCAAGAGATGA	0.358																																					p.G246X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G736T	11						.						100.0	96.0	98.0					11																	56057803		2201	4296	6497	55814379	SO:0001587	stop_gained	219469	exon1			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.736G>T	11.37:g.56057803C>A	ENSP00000323595:p.Gly246*		55814379	NM_001005199	B2RNI7|Q6IFC5	Nonsense_Mutation	SNP	ENST00000313022.2	37	CCDS31526.1	.	.	.	.	.	.	.	.	.	.	C	7.499	0.652251	0.14580	.	.	ENSG00000181693	ENST00000313022;ENST00000395186	.	.	.	3.86	3.86	0.44501	.	0.263566	0.27433	N	0.019395	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.3579	0.83243	0.0:1.0:0.0:0.0	.	.	.	.	X	246;242	.	ENSP00000323595:G246X	G	-	1	0	OR8H1	55814379	0.000000	0.05858	0.014000	0.15608	0.001000	0.01503	1.034000	0.30204	2.103000	0.63969	0.632000	0.83419	GGA		0.358	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199	
OR5R1	219479	broad.mit.edu	37	11	56185349	56185349	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:56185349G>A	ENST00000312253.1	-	1	359	c.360C>T	c.(358-360)taC>taT	p.Y120Y		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y120Y(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					CATAGCAATCGTAGGCCATGG	0.463																																					p.Y120Y												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.C360T	11						.						107.0	102.0	104.0					11																	56185349		2201	4296	6497	55941925	SO:0001819	synonymous_variant	219479	exon1			AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.360C>T	11.37:g.56185349G>A			55941925	NM_001004744		Silent	SNP	ENST00000312253.1	37	CCDS31530.1																																																																																				0.463	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744	
OR5M9	390162	broad.mit.edu	37	11	56230605	56230605	+	Silent	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:56230605G>T	ENST00000279791.1	-	1	272	c.273C>A	c.(271-273)tcC>tcA	p.S91S		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S91S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					ATCCCACATAGGAAATGGTTT	0.473																																					p.S91S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C273A	11						.						107.0	104.0	105.0					11																	56230605		2201	4296	6497	55987181	SO:0001819	synonymous_variant	390162	exon1			AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"""GPCR / Class A : Olfactory receptors"""	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.273C>A	11.37:g.56230605G>T			55987181	NM_001004743	Q6IEW5|Q96RB9	Silent	SNP	ENST00000279791.1	37	CCDS31531.1																																																																																				0.473	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743	
OR5M3	219482	broad.mit.edu	37	11	56237268	56237268	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:56237268A>T	ENST00000312240.2	-	1	746	c.706T>A	c.(706-708)Ttt>Att	p.F236I		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F236I(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					CATGTGGAAAAGGCCTTCTGC	0.453																																					p.F236I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T706A	11						.						56.0	55.0	55.0					11																	56237268		2201	4295	6496	55993844	SO:0001583	missense	219482	exon1			AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.706T>A	11.37:g.56237268A>T	ENSP00000312208:p.Phe236Ile		55993844	NM_001004742	B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	37	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	A	18.49	3.635191	0.67130	.	.	ENSG00000174937	ENST00000312240	T	0.00287	8.29	5.08	3.96	0.45880	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43579	D	0.000560	T	0.00695	0.0023	H	0.94620	3.56	0.30599	N	0.760715	D	0.55385	0.971	P	0.58721	0.844	T	0.01675	-1.1298	10	0.56958	D	0.05	-21.7226	8.3007	0.32012	0.9058:0.0:0.0942:0.0	.	236	Q8NGP4	OR5M3_HUMAN	I	236	ENSP00000312208:F236I	ENSP00000312208:F236I	F	-	1	0	OR5M3	55993844	0.996000	0.38824	1.000000	0.80357	0.801000	0.45260	2.035000	0.41155	1.897000	0.54924	0.448000	0.29417	TTT		0.453	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742	
OR5AK2	390181	broad.mit.edu	37	11	56756830	56756830	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:56756830T>A	ENST00000326855.2	+	1	484	c.442T>A	c.(442-444)Tca>Aca	p.S148T		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S148T(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						GGTAGCTGGTTCATACATCAT	0.438																																					p.S148T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T442A	11						.						215.0	185.0	195.0					11																	56756830		2201	4296	6497	56513406	SO:0001583	missense	390181	exon1			AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"""GPCR / Class A : Olfactory receptors"""	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.442T>A	11.37:g.56756830T>A	ENSP00000322784:p.Ser148Thr		56513406	NM_001005323	B2RNZ9	Missense_Mutation	SNP	ENST00000326855.2	37	CCDS31538.1	.	.	.	.	.	.	.	.	.	.	T	8.158	0.788841	0.16258	.	.	ENSG00000181273	ENST00000326855	T	0.37915	1.17	3.85	3.85	0.44370	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35124	N	0.003435	T	0.46308	0.1386	M	0.69358	2.11	0.09310	N	1	D	0.59357	0.985	D	0.66351	0.943	T	0.37753	-0.9692	10	0.19590	T	0.45	-9.535	3.392	0.07293	0.2005:0.1092:0.0:0.6903	.	148	Q8NH90	O5AK2_HUMAN	T	148	ENSP00000322784:S148T	ENSP00000322784:S148T	S	+	1	0	OR5AK2	56513406	0.001000	0.12720	0.088000	0.20740	0.176000	0.22953	0.331000	0.19733	1.739000	0.51704	0.163000	0.16589	TCA		0.438	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392446.1	NM_001005323	
APLNR	187	broad.mit.edu	37	11	57004294	57004294	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:57004294C>T	ENST00000606794.1	-	1	381	c.185G>A	c.(184-186)cGc>cAc	p.R62H		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	62					G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation (GO:0007369)|heart development (GO:0007507)|regulation of body fluid levels (GO:0050878)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)	p.R62H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						ATCAGCTGAGCGCCTCTTCTC	0.612																																					p.R62H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G185A	11						.						74.0	68.0	70.0					11																	57004294		2201	4296	6497	56760870	SO:0001583	missense	187	exon1			U03642	CCDS7950.1	11q12.1	2012-08-08	2008-05-12	2008-05-12	ENSG00000134817	ENSG00000134817			339	protein-coding gene	gene with protein product	"""APJ (apelin) receptor"""	600052	"""angiotensin II receptor-like 1"""	AGTRL1		8294032, 14622440	Standard	NM_005161		Approved	FLJ90771, APJ, APJR	uc001njo.3	P35414	OTTHUMG00000167021	ENST00000606794.1:c.185G>A	11.37:g.57004294C>T	ENSP00000475344:p.Arg62His		56760870	NM_005161		Missense_Mutation	SNP	ENST00000606794.1	37	CCDS7950.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.203005	0.79127	.	.	ENSG00000134817	ENST00000257254;ENST00000444275	T	0.37411	1.2	5.32	5.32	0.75619	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.54351	0.1853	L	0.43152	1.355	0.46927	D	0.999259	D	0.89917	1.0	D	0.81914	0.995	T	0.55042	-0.8202	10	0.62326	D	0.03	-27.5822	18.5832	0.91180	0.0:1.0:0.0:0.0	.	62	P35414	APJ_HUMAN	H	62;27	ENSP00000257254:R62H	ENSP00000257254:R62H	R	-	2	0	APLNR	56760870	0.998000	0.40836	0.991000	0.47740	0.852000	0.48524	3.894000	0.56250	2.486000	0.83907	0.561000	0.74099	CGC		0.612	APLNR-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470575.1	NM_005161	
SLC43A1	8501	broad.mit.edu	37	11	57263528	57263528	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:57263528G>T	ENST00000278426.3	-	7	1023	c.668C>A	c.(667-669)cCt>cAt	p.P223H	SLC43A1_ENST00000533515.1_5'UTR|SLC43A1_ENST00000528450.1_Missense_Mutation_p.P223H	NM_003627.5	NP_003618.1			solute carrier family 43 (amino acid system L transporter), member 1									p.P223H(1)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CTCAGGGGCAGGAAAGGCTTC	0.552																																					p.P223H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C668A	11						.						71.0	56.0	61.0					11																	57263528		2201	4296	6497	57020104	SO:0001583	missense	8501	exon7			AF045584	CCDS7958.1	11q12.1	2013-07-17	2013-07-17	2003-09-12	ENSG00000149150	ENSG00000149150		"""Solute carriers"""	9225	protein-coding gene	gene with protein product		603733	"""prostate cancer overexpressed gene 1"""	POV1		9255310, 9722952	Standard	NM_003627		Approved	R00504, PB39	uc001nkk.3	O75387	OTTHUMG00000167030	ENST00000278426.3:c.668C>A	11.37:g.57263528G>T	ENSP00000278426:p.Pro223His		57020104	NM_003627		Missense_Mutation	SNP	ENST00000278426.3	37	CCDS7958.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826863	0.90955	.	.	ENSG00000149150	ENST00000278426;ENST00000528450;ENST00000533066	T;T;T	0.61158	0.13;0.13;0.76	5.63	5.63	0.86233	Major facilitator superfamily domain, general substrate transporter (1);	0.051835	0.85682	D	0.000000	T	0.76933	0.4057	M	0.79123	2.44	0.53688	D	0.99997	D	0.89917	1.0	D	0.91635	0.999	T	0.74627	-0.3602	10	0.33940	T	0.23	-18.2639	18.457	0.90724	0.0:0.0:1.0:0.0	.	223	O75387	LAT3_HUMAN	H	223;223;192	ENSP00000278426:P223H;ENSP00000435673:P223H;ENSP00000435647:P192H	ENSP00000278426:P223H	P	-	2	0	SLC43A1	57020104	1.000000	0.71417	0.906000	0.35671	0.954000	0.61252	9.034000	0.93747	2.637000	0.89404	0.561000	0.74099	CCT		0.552	SLC43A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392541.1	NM_003627	
CLP1	10978	broad.mit.edu	37	11	57428694	57428694	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:57428694T>C	ENST00000302731.4	+	3	992	c.872T>C	c.(871-873)gTc>gCc	p.V291A	CLP1_ENST00000529430.1_Missense_Mutation_p.V366A|CLP1_ENST00000525602.1_Missense_Mutation_p.V355A|CLP1_ENST00000533682.1_Missense_Mutation_p.V355A	NM_001142597.1|NM_006831.2	NP_001136069.1|NP_006822.1	Q5KU26	COL12_HUMAN	cleavage and polyadenylation factor I subunit 1	0					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)	p.V355A(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						CTAGTACCTGTCACTCCTGGG	0.507																																					p.V291A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T872C	11						.						165.0	144.0	151.0					11																	57428694		2201	4296	6497	57185270	SO:0001583	missense	10978	exon3			BC000446	CCDS7964.1, CCDS44600.1	11q12.1	2012-10-02	2012-10-02		ENSG00000172409	ENSG00000172409	2.7.1.78		16999	protein-coding gene	gene with protein product	"""ATP/GTPbinding protein"", ""polyribonucleotide 5'-hydroxyl-kinase"""	608757	"""CLP1, cleavage and polyadenylation factor I subunit, homolog (S. cerevisiae)"""			8896421, 11060040	Standard	NM_006831		Approved	HEAB, hClp1	uc001nkw.3	Q92989	OTTHUMG00000167146	ENST00000302731.4:c.872T>C	11.37:g.57428694T>C	ENSP00000304704:p.Val291Ala		57185270	NM_001142597	Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000302731.4	37	CCDS44600.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.317745	0.81469	.	.	ENSG00000172409	ENST00000529430;ENST00000533682;ENST00000525602;ENST00000302731	T;T;T	0.50813	0.73;0.74;0.74	5.11	5.11	0.69529	Pre-mRNA cleavage complex II Clp1 (1);	0.000000	0.85682	D	0.000000	T	0.66839	0.2830	M	0.78637	2.42	0.80722	D	1	D;P	0.67145	0.996;0.955	D;P	0.63877	0.919;0.883	T	0.70139	-0.4954	10	0.51188	T	0.08	-4.4495	14.7327	0.69393	0.0:0.0:0.0:1.0	.	291;355	Q92989-2;Q92989	.;CLP1_HUMAN	A	366;355;355;291	ENSP00000433406:V366A;ENSP00000434995:V355A;ENSP00000436066:V355A	ENSP00000304704:V291A	V	+	2	0	CLP1	57185270	1.000000	0.71417	0.996000	0.52242	0.951000	0.60555	7.734000	0.84928	2.160000	0.67779	0.528000	0.53228	GTC		0.507	CLP1-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000393465.1	NM_006831	
ZDHHC5	25921	broad.mit.edu	37	11	57463482	57463482	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:57463482T>G	ENST00000287169.3	+	9	2338	c.976T>G	c.(976-978)Ttg>Gtg	p.L326V	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.L273V	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	326					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.L326V(1)		endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						TTACACAGGGTTGCGAACACA	0.512																																					p.L326V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T976G	11						.						112.0	89.0	97.0					11																	57463482		2201	4296	6497	57220058	SO:0001583	missense	25921	exon9			AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"""Zinc fingers, DHHC-type"""	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.976T>G	11.37:g.57463482T>G	ENSP00000287169:p.Leu326Val		57220058	NM_015457	Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Missense_Mutation	SNP	ENST00000287169.3	37	CCDS7965.1	.	.	.	.	.	.	.	.	.	.	T	11.06	1.528911	0.27387	.	.	ENSG00000156599	ENST00000527985;ENST00000287169;ENST00000529447	T;T;D	0.84944	0.18;1.18;-1.92	5.65	2.82	0.32997	.	0.213804	0.41294	D	0.000907	D	0.82421	0.5033	L	0.58810	1.83	0.47949	D	0.999553	P	0.35383	0.498	B	0.39660	0.306	T	0.76860	-0.2803	10	0.33940	T	0.23	-12.2815	10.6887	0.45858	0.0:0.7934:0.0:0.2066	.	326	Q9C0B5	ZDHC5_HUMAN	V	273;326;160	ENSP00000432202:L273V;ENSP00000287169:L326V;ENSP00000435722:L160V	ENSP00000287169:L326V	L	+	1	2	ZDHHC5	57220058	1.000000	0.71417	0.849000	0.33467	0.354000	0.29330	2.597000	0.46214	0.493000	0.27837	-0.146000	0.13790	TTG		0.512	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1	NM_015457	
OR9Q2	219957	broad.mit.edu	37	11	57958767	57958767	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:57958767G>A	ENST00000311591.3	+	1	862	c.805G>A	c.(805-807)Gag>Aag	p.E269K		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E269K(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CCAGTCCTCCGAGGGAGACCG	0.552																																					p.E269K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G805A	11						.						101.0	93.0	96.0					11																	57958767		2201	4296	6497	57715343	SO:0001583	missense	219957	exon1			AB065859	CCDS31544.1	11q12.1	2012-08-09		2004-03-10	ENSG00000186513	ENSG00000186513		"""GPCR / Class A : Olfactory receptors"""	15328	protein-coding gene	gene with protein product				OR9Q2P			Standard	NM_001005283		Approved		uc010rka.2	Q8NGE9	OTTHUMG00000167414	ENST00000311591.3:c.805G>A	11.37:g.57958767G>A	ENSP00000308714:p.Glu269Lys		57715343	NM_001005283		Missense_Mutation	SNP	ENST00000311591.3	37	CCDS31544.1	.	.	.	.	.	.	.	.	.	.	G	9.517	1.107203	0.20714	.	.	ENSG00000186513	ENST00000311591	T	0.00099	8.73	5.09	2.85	0.33270	GPCR, rhodopsin-like superfamily (1);	0.463064	0.18027	N	0.154059	T	0.00109	0.0003	N	0.25825	0.765	0.09310	N	1	B	0.27932	0.194	B	0.22601	0.04	T	0.21042	-1.0257	10	0.59425	D	0.04	-9.1453	9.2658	0.37641	0.0947:0.1872:0.7181:0.0	.	269	Q8NGE9	OR9Q2_HUMAN	K	269	ENSP00000308714:E269K	ENSP00000308714:E269K	E	+	1	0	OR9Q2	57715343	0.006000	0.16342	0.072000	0.20136	0.347000	0.29111	1.109000	0.31135	1.338000	0.45544	0.655000	0.94253	GAG		0.552	OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394540.1	NM_001005283	
MPEG1	219972	broad.mit.edu	37	11	58980300	58980300	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:58980300C>T	ENST00000361050.3	-	1	124	c.39G>A	c.(37-39)gcG>gcA	p.A13A	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	13						integral component of membrane (GO:0016021)		p.A13A(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				CCCATGCTGCCGCTGCCCAGA	0.547																																					p.A13A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G39A	11						.						66.0	68.0	68.0					11																	58980300		1998	4178	6176	58736876	SO:0001819	synonymous_variant	219972	exon1			AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.39G>A	11.37:g.58980300C>T			58736876	NM_001039396	Q2M1T6|Q8TEF8	Silent	SNP	ENST00000361050.3	37	CCDS41650.1																																																																																				0.547	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396	
CYB561A3	220002	broad.mit.edu	37	11	61121436	61121436	+	Silent	SNP	C	C	T	rs79125008	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:61121436C>T	ENST00000294072.4	-	4	890	c.213G>A	c.(211-213)tcG>tcA	p.S71S	CYB561A3_ENST00000540317.1_5'UTR|CYB561A3_ENST00000426130.2_Silent_p.S88S|CYB561A3_ENST00000447532.2_Silent_p.S71S|CYB561A3_ENST00000539890.1_Intron|CYB561A3_ENST00000544118.1_Intron|CYB561A3_ENST00000546151.1_Intron|CYB561A3_ENST00000536915.1_Silent_p.S71S	NM_001161452.1|NM_153611.4	NP_001154924.1|NP_705839.3	Q8NBI2	CYAC3_HUMAN	cytochrome b561 family, member A3	71	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.					integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)	p.S71S(1)									GCCCCACCCACGACTGGGGCA	0.607													C|||	7	0.00139776	0.0053	0.0	5008	,	,		20248	0.0		0.0	False		,,,				2504	0.0				p.S88S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G264A	11						.	C	,,	36,4370	41.6+/-74.8	0,36,2167	98.0	82.0	88.0		213,264,213	-10.5	0.0	11	dbSNP_131	88	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	CYBASC3	NM_001161452.1,NM_001161454.1,NM_153611.4	,,	0,37,6465	TT,TC,CC		0.0116,0.8171,0.2845	,,	71/243,88/260,71/243	61121436	37,12967	2203	4299	6502	60878012	SO:0001819	synonymous_variant	220002	exon5			AK024953	CCDS8004.1, CCDS53639.1, CCDS73296.1	11q12.2	2013-03-14	2013-03-14	2013-03-14		ENSG00000162144		"""Cytochrome b genes"""	23014	protein-coding gene	gene with protein product			"""cytochrome b, ascorbate dependent 3"""	CYBASC3		23249217	Standard	NM_153611		Approved		uc001nrf.4	Q8NBI2		ENST00000294072.4:c.213G>A	11.37:g.61121436C>T			60878012	NM_001161454	B3KPU2|B4DLN9|J3KQH4|Q6PK96	Silent	SNP	ENST00000294072.4	37	CCDS8004.1																																																																																				0.607	CYB561A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398714.2	NM_153611	
AHNAK	79026	broad.mit.edu	37	11	62294959	62294959	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:62294959delG	ENST00000378024.4	-	5	7204	c.6930delC	c.(6928-6930)cccfs	p.P2310fs	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2310					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.K2311fs*11(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGGAGATCTTGGGGGTCTTGA	0.478																																					p.P2310fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.6930delC	11						.						148.0	159.0	155.0					11																	62294959		2202	4299	6501	62051535	SO:0001589	frameshift_variant	79026	exon5			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.6930delC	11.37:g.62294959delG	ENSP00000367263:p.Pro2310fs		62051535	NM_001620	A1A586	Frame_Shift_Del	DEL	ENST00000378024.4	37	CCDS31584.1																																																																																				0.478	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
AHNAK	79026	broad.mit.edu	37	11	62298945	62298945	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:62298945C>T	ENST00000378024.4	-	5	3218	c.2944G>A	c.(2944-2946)Gtc>Atc	p.V982I	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	982					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.V982I(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGGGCACTGACATCTACTTTT	0.468																																					p.V982I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2944A	11						.						124.0	133.0	130.0					11																	62298945		2202	4299	6501	62055521	SO:0001583	missense	79026	exon5			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.2944G>A	11.37:g.62298945C>T	ENSP00000367263:p.Val982Ile		62055521	NM_001620	A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	2.094	-0.407665	0.04832	.	.	ENSG00000124942	ENST00000378024	T	0.00625	6.14	4.93	0.212	0.15240	.	0.453195	0.22055	N	0.065248	T	0.00328	0.0010	N	0.04043	-0.29	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.46091	-0.9216	10	0.02654	T	1	-6.792	4.9903	0.14211	0.0:0.3666:0.2765:0.3569	.	982	Q09666	AHNK_HUMAN	I	982	ENSP00000367263:V982I	ENSP00000367263:V982I	V	-	1	0	AHNAK	62055521	0.000000	0.05858	0.840000	0.33206	0.977000	0.68977	-2.777000	0.00775	0.137000	0.18759	0.555000	0.69702	GTC		0.468	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
INTS5	80789	broad.mit.edu	37	11	62415762	62415762	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:62415762G>A	ENST00000330574.2	-	2	1842	c.1790C>T	c.(1789-1791)gCg>gTg	p.A597V	GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000534779.1_5'Flank|GANAB_ENST00000540933.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	597					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.A597V(2)		breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CCCAAAGTGCGCCCCTAGGGC	0.627																																					p.A597V												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C1790T	11						.						47.0	45.0	45.0					11																	62415762		2202	4299	6501	62172338	SO:0001583	missense	80789	exon2			AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.1790C>T	11.37:g.62415762G>A	ENSP00000327889:p.Ala597Val		62172338	NM_030628	Q8N6W5|Q9C0G5	Missense_Mutation	SNP	ENST00000330574.2	37	CCDS8027.1	.	.	.	.	.	.	.	.	.	.	G	5.099	0.203824	0.09704	.	.	ENSG00000185085	ENST00000330574	.	.	.	5.44	5.44	0.79542	.	0.469406	0.24003	N	0.042446	T	0.26629	0.0651	N	0.19112	0.55	0.28769	N	0.900451	B	0.32051	0.354	B	0.23275	0.045	T	0.11131	-1.0600	9	0.26408	T	0.33	.	14.6416	0.68729	0.0:0.0:1.0:0.0	.	597	Q6P9B9	INT5_HUMAN	V	597	.	ENSP00000327889:A597V	A	-	2	0	INTS5	62172338	0.972000	0.33761	0.983000	0.44433	0.072000	0.16883	2.804000	0.47931	2.837000	0.97791	0.655000	0.94253	GCG		0.627	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628	
CHRM1	1128	broad.mit.edu	37	11	62677614	62677614	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:62677614C>T	ENST00000306960.3	-	2	1500	c.959G>A	c.(958-960)cGg>cAg	p.R320Q	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	320					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cognition (GO:0050890)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of ion transport (GO:0043270)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of locomotion (GO:0040012)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.R320Q(1)		large_intestine(5)|lung(3)|stomach(1)	9					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Benzatropine(DB00245)|Biperiden(DB00810)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbachol(DB00411)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clidinium(DB00771)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Doxylamine(DB00366)|Escitalopram(DB01175)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Flupentixol(DB00875)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Trospium(DB00209)|Ziprasidone(DB00246)	TGGGGAGCTCCGTGGGGGCTG	0.622																																					p.R320Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G959A	11						.						50.0	57.0	54.0					11																	62677614		2201	4298	6499	62434190	SO:0001583	missense	1128	exon2			Y00508	CCDS8040.1	11q12-q13	2012-08-08				ENSG00000168539		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1950	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 1"""	118510					Standard	NM_000738		Approved		uc001nwi.3	P11229		ENST00000306960.3:c.959G>A	11.37:g.62677614C>T	ENSP00000306490:p.Arg320Gln		62434190	NM_000738	Q96RH1	Missense_Mutation	SNP	ENST00000306960.3	37	CCDS8040.1	.	.	.	.	.	.	.	.	.	.	C	6.578	0.474915	0.12521	.	.	ENSG00000168539	ENST00000306960;ENST00000543973	T;T	0.60171	0.24;0.21	4.79	2.79	0.32731	GPCR, rhodopsin-like superfamily (1);	0.469388	0.15644	U	0.251731	T	0.28928	0.0718	N	0.04203	-0.255	0.27105	N	0.962523	B	0.16166	0.016	B	0.10450	0.005	T	0.20240	-1.0281	10	0.13470	T	0.59	-10.8504	6.7302	0.23379	0.0:0.7293:0.0:0.2707	.	320	P11229	ACM1_HUMAN	Q	320	ENSP00000306490:R320Q;ENSP00000441188:R320Q	ENSP00000306490:R320Q	R	-	2	0	CHRM1	62434190	0.001000	0.12720	0.505000	0.27651	0.397000	0.30659	0.810000	0.27183	0.506000	0.28125	0.563000	0.77884	CGG		0.622	CHRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396178.1	NM_000738	
MACROD1	28992	broad.mit.edu	37	11	63884757	63884757	+	Intron	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:63884757C>T	ENST00000255681.6	-	3	584				FLRT1_ENST00000246841.3_Missense_Mutation_p.R340W|RP11-21A7A.3_ENST00000543817.1_RNA	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)	p.R340W(1)		breast(1)|large_intestine(3)|lung(6)|skin(1)	11						CATGTGGCTGCGGGACTGGGT	0.657																																					p.R340W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1018T	11						.						52.0	54.0	54.0					11																	63884757		2201	4297	6498	63641333	SO:0001627	intron_variant	23769	exon2			AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+33953G>A	11.37:g.63884757C>T			63641333	NM_013280	Q9UH96	Missense_Mutation	SNP	ENST00000255681.6	37	CCDS8056.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.501226	0.44455	.	.	ENSG00000126500	ENST00000246841	T	0.02421	4.3	5.16	2.05	0.26809	Cysteine-rich flanking region, C-terminal (1);	0.319457	0.29745	N	0.011319	T	0.08582	0.0213	M	0.67953	2.075	0.39720	D	0.97145	D	0.76494	0.999	P	0.60473	0.875	T	0.19844	-1.0293	10	0.37606	T	0.19	-25.3895	8.466	0.32956	0.363:0.5595:0.0:0.0775	.	312	Q9NZU1	FLRT1_HUMAN	W	340	ENSP00000246841:R340W	ENSP00000246841:R340W	R	+	1	2	FLRT1	63641333	0.949000	0.32298	1.000000	0.80357	0.996000	0.88848	1.066000	0.30604	1.137000	0.42214	0.555000	0.69702	CGG		0.657	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	NM_014067	
NAALADL1	10004	broad.mit.edu	37	11	64825450	64825450	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:64825450A>C	ENST00000358658.3	-	3	404	c.377T>G	c.(376-378)aTc>aGc	p.I126S	NAALADL1_ENST00000356632.3_Missense_Mutation_p.I126S|NAALADL1_ENST00000355369.2_Missense_Mutation_p.I126S|NAALADL1_ENST00000339885.2_Missense_Mutation_p.I126S|NAALADL1_ENST00000340252.4_Missense_Mutation_p.I126S|NAALADL1_ENST00000355721.3_Missense_Mutation_p.I126S	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	126						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.I126S(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GGAGTGGATGATGCCCCCAGT	0.647																																					p.I126S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T377G	11						.						88.0	86.0	87.0					11																	64825450		2201	4297	6498	64582026	SO:0001583	missense	10004	exon3			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.377T>G	11.37:g.64825450A>C	ENSP00000351484:p.Ile126Ser		64582026	NM_005468	C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Missense_Mutation	SNP	ENST00000358658.3	37	CCDS31604.1	.	.	.	.	.	.	.	.	.	.	A	10.18	1.280335	0.23392	.	.	ENSG00000168060	ENST00000358658;ENST00000355369;ENST00000339885;ENST00000453486;ENST00000340252;ENST00000355721;ENST00000356632	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97	4.77	-0.339	0.12647	.	0.761458	0.12649	N	0.450601	T	0.28366	0.0701	L	0.46157	1.445	0.09310	N	1	B	0.24533	0.105	B	0.20184	0.028	T	0.28964	-1.0027	10	0.52906	T	0.07	-2.6925	0.8619	0.01195	0.411:0.1616:0.2706:0.1567	.	126	Q9UQQ1	NALDL_HUMAN	S	126	ENSP00000351484:I126S;ENSP00000347530:I126S;ENSP00000340111:I126S;ENSP00000344244:I126S;ENSP00000347955:I126S;ENSP00000349045:I126S	ENSP00000340111:I126S	I	-	2	0	NAALADL1	64582026	0.042000	0.20092	0.000000	0.03702	0.020000	0.10135	2.071000	0.41500	-0.209000	0.10156	0.459000	0.35465	ATC		0.647	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1	NM_005468	
SYVN1	84447	broad.mit.edu	37	11	64895945	64895945	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:64895945C>T	ENST00000377190.3	-	16	1857	c.1763G>A	c.(1762-1764)gGc>gAc	p.G588D	SYVN1_ENST00000307289.6_Missense_Mutation_p.G536D|SYVN1_ENST00000526060.1_Missense_Mutation_p.G587D|SYVN1_ENST00000294256.8_Missense_Mutation_p.G587D|SYVN1_ENST00000526121.1_5'Flank	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	588					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|in utero embryonic development (GO:0001701)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|zinc ion binding (GO:0008270)	p.G588D(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						CTCCTCTGTGCCCACTGACTC	0.632																																					p.G587D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1760A	11						.						38.0	44.0	42.0					11																	64895945		2201	4297	6498	64652521	SO:0001583	missense	84447	exon16			AB085847	CCDS8097.1, CCDS31605.1	11q13	2013-01-09			ENSG00000162298	ENSG00000162298		"""RING-type (C3HC4) zinc fingers"""	20738	protein-coding gene	gene with protein product	"""HMG-coA reductase degradation 1 homolog (S. cerevisiae)"""	608046				12975321	Standard	NM_032431		Approved	HRD1, DER3	uc001odb.3	Q86TM6		ENST00000377190.3:c.1763G>A	11.37:g.64895945C>T	ENSP00000366395:p.Gly588Asp		64652521	NM_032431	Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	Missense_Mutation	SNP	ENST00000377190.3	37	CCDS31605.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	10.92|10.92	1.487828|1.487828	0.26686|0.26686	.|.	.|.	ENSG00000162298|ENSG00000162298	ENST00000434219|ENST00000377190;ENST00000294256;ENST00000307289;ENST00000526060	.|T;T;T;T	.|0.09255	.|3.0;3.01;3.18;3.01	4.73|4.73	4.73|4.73	0.59995|0.59995	.|.	.|0.637037	.|0.15074	.|N	.|0.282015	T|T	0.05914|0.05914	0.0154|0.0154	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.32829	.|0.386;0.386;0.267	.|B;B;B	.|0.25140	.|0.058;0.058;0.026	T|T	0.31308|0.31308	-0.9948|-0.9948	6|10	0.30078|0.12103	T|T	0.28|0.63	-2.9421|-2.9421	13.1037|13.1037	0.59235|0.59235	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|536;587;588	.|Q86TM6-2;Q86TM6-3;Q86TM6	.|.;.;SYVN1_HUMAN	T|D	588|588;587;536;587	.|ENSP00000366395:G588D;ENSP00000294256:G587D;ENSP00000302035:G536D;ENSP00000436984:G587D	ENSP00000412962:A588T|ENSP00000294256:G587D	A|G	-|-	1|2	0|0	SYVN1|SYVN1	64652521|64652521	0.360000|0.360000	0.24964|0.24964	0.961000|0.961000	0.40146|0.40146	0.991000|0.991000	0.79684|0.79684	1.747000|1.747000	0.38298|0.38298	2.455000|2.455000	0.83008|0.83008	0.550000|0.550000	0.68814|0.68814	GCA|GGC		0.632	SYVN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385274.1	NM_032431	
TIGD3	220359	broad.mit.edu	37	11	65124266	65124266	+	Silent	SNP	C	C	T	rs201902890		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:65124266C>T	ENST00000309880.5	+	2	1194	c.987C>T	c.(985-987)gcC>gcT	p.A329A		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	329	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A329A(1)		endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						CCTCGCTGGCCGAGGCCGGGG	0.642													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17436	0.0		0.0	False		,,,				2504	0.0				p.A329A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C987T	11						.						16.0	18.0	17.0					11																	65124266		2187	4280	6467	64880842	SO:0001819	synonymous_variant	220359	exon2				CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825			18334	protein-coding gene	gene with protein product							Standard	NM_145719		Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.987C>T	11.37:g.65124266C>T			64880842	NM_145719		Silent	SNP	ENST00000309880.5	37	CCDS8101.1																																																																																				0.642	TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387310.1	NM_145719	
SCYL1	57410	broad.mit.edu	37	11	65298235	65298235	+	Missense_Mutation	SNP	G	G	A	rs201604417		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:65298235G>A	ENST00000270176.5	+	7	1062	c.985G>A	c.(985-987)Gtt>Att	p.V329I	SCYL1_ENST00000524944.1_Missense_Mutation_p.V329I|SCYL1_ENST00000525364.1_Missense_Mutation_p.V329I|SCYL1_ENST00000527009.1_Missense_Mutation_p.V186I|SCYL1_ENST00000420247.2_Missense_Mutation_p.V329I|SCYL1_ENST00000279270.6_Missense_Mutation_p.V329I|SCYL1_ENST00000533862.1_Missense_Mutation_p.V329I	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	329					peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)	p.V329I(1)		ovary(1)|skin(1)	2						TGCTGGGGCCGTTGTCCTCAC	0.622																																					p.V329I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G985A	11						.	G	ILE/VAL,ILE/VAL	0,3932		0,0,1966	57.0	60.0	59.0		985,985	5.6	1.0	11		59	1,8271		0,1,4135	yes	missense,missense	SCYL1	NM_001048218.1,NM_020680.3	29,29	0,1,6101	AA,AG,GG		0.0121,0.0,0.0082	possibly-damaging,possibly-damaging	329/792,329/809	65298235	1,12203	1966	4136	6102	65054811	SO:0001583	missense	57410	exon7			AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"""teratoma-associated tyrosine kinase"", ""telomerase transcriptional elements-interacting factor"", ""telomerase regulation-associated protein"""	607982	"""N-terminal kinase-like"""	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.985G>A	11.37:g.65298235G>A	ENSP00000270176:p.Val329Ile		65054811	NM_001048218	A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Missense_Mutation	SNP	ENST00000270176.5	37	CCDS41672.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.528262	0.44969	0.0	1.21E-4	ENSG00000142186	ENST00000270176;ENST00000525364;ENST00000420247;ENST00000533862;ENST00000527630;ENST00000349495;ENST00000279270;ENST00000524944;ENST00000527009	T;T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.57	5.57	0.84162	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.43366	0.1244	M	0.68952	2.095	0.80722	D	1	B;P;P;D	0.56746	0.165;0.954;0.954;0.977	B;P;P;B	0.49752	0.056;0.621;0.519;0.417	T	0.25293	-1.0136	10	0.38643	T	0.18	-15.9551	17.0326	0.86465	0.0:0.0:1.0:0.0	.	329;329;329;329	E9PS17;Q96KG9-6;Q96KG9-2;Q96KG9	.;.;.;NTKL_HUMAN	I	329;329;329;329;329;329;329;329;186	ENSP00000270176:V329I;ENSP00000431635:V329I;ENSP00000408192:V329I;ENSP00000437254:V329I;ENSP00000433450:V329I;ENSP00000279270:V329I;ENSP00000432175:V329I;ENSP00000436993:V186I	ENSP00000270176:V329I	V	+	1	0	SCYL1	65054811	1.000000	0.71417	0.951000	0.38953	0.329000	0.28539	6.582000	0.74049	2.623000	0.88846	0.561000	0.74099	GTT		0.622	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	NM_020680	
KAT5	10524	broad.mit.edu	37	11	65480473	65480473	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:65480473A>G	ENST00000377046.3	+	4	501	c.229A>G	c.(229-231)Acc>Gcc	p.T77A	KAT5_ENST00000525204.1_3'UTR|KAT5_ENST00000534650.1_5'UTR|KAT5_ENST00000341318.4_Missense_Mutation_p.T110A|KAT5_ENST00000352980.4_Missense_Mutation_p.T77A|KAT5_ENST00000530446.1_Missense_Mutation_p.T110A	NM_006388.3	NP_006379.2	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	77					androgen receptor signaling pathway (GO:0030521)|cellular response to estradiol stimulus (GO:0071392)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|double-strand break repair (GO:0006302)|histone acetylation (GO:0016573)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of growth (GO:0040008)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|repressing transcription factor binding (GO:0070491)|transcription coactivator activity (GO:0003713)	p.T110A(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						AGAGGCCAAGACCCCCACTAA	0.552																																					p.T110A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A328G	11						.						116.0	116.0	116.0					11																	65480473		2201	4297	6498	65237049	SO:0001583	missense	10524	exon3			U74667	CCDS8109.1, CCDS8110.1, CCDS31610.1, CCDS55771.1	11q13	2013-01-10	2008-07-04	2008-07-04	ENSG00000172977	ENSG00000172977		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	5275	protein-coding gene	gene with protein product	"""Tat interacting protein, 60kDa"", ""K-acetyltransferase 5"""	601409	"""HIV-1 Tat interactive protein, 60kDa"""	HTATIP		8607265	Standard	NM_006388		Approved	TIP60, PLIP, cPLA2, HTATIP1, ESA1, ZC2HC5	uc001ofk.3	Q92993	OTTHUMG00000166617	ENST00000377046.3:c.229A>G	11.37:g.65480473A>G	ENSP00000366245:p.Thr77Ala		65237049	NM_182710	B4E3C7|C9JL99|O95624|Q13430|Q17RW5|Q561W3|Q6GSE8|Q9BWK7	Missense_Mutation	SNP	ENST00000377046.3	37	CCDS31610.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.06|11.06	1.529058|1.529058	0.27387|0.27387	.|.	.|.	ENSG00000172977|ENSG00000172977	ENST00000530605|ENST00000377046;ENST00000352980;ENST00000341318;ENST00000530446;ENST00000528198;ENST00000531880	.|T;T;T;T;T;T	.|0.43294	.|0.95;0.95;0.95;0.95;0.95;0.95	4.37|4.37	4.37|4.37	0.52481|0.52481	.|Chromo domain-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.38188|0.38188	0.1031|0.1031	L|L	0.58810|0.58810	1.83|1.83	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.24483	.|0.011;0.104;0.035;0.011	.|B;B;B;B	.|0.29862	.|0.021;0.108;0.015;0.028	T|T	0.14868|0.14868	-1.0457|-1.0457	5|10	.|0.12766	.|T	.|0.61	-18.306|-18.306	11.557|11.557	0.50755|0.50755	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|110;110;77;77	.|B4E3C7;Q92993-3;Q92993-2;Q92993	.|.;.;.;KAT5_HUMAN	G|A	73|77;77;110;110;71;71	.|ENSP00000366245:T77A;ENSP00000344955:T77A;ENSP00000340330:T110A;ENSP00000434765:T110A;ENSP00000436000:T71A;ENSP00000436012:T71A	.|ENSP00000340330:T110A	D|T	+|+	2|1	0|0	KAT5|KAT5	65237049|65237049	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	8.598000|8.598000	0.90852|0.90852	1.851000|1.851000	0.53745|0.53745	0.459000|0.459000	0.35465|0.35465	GAC|ACC		0.552	KAT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390866.2	NM_006388	
SNX32	254122	broad.mit.edu	37	11	65617468	65617468	+	Silent	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:65617468C>A	ENST00000308342.6	+	3	644	c.219C>A	c.(217-219)gcC>gcA	p.A73A		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	73	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)	p.A73A(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		TGCATGATGCCTACGTGGAGA	0.627																																					p.A73A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C219A	11						.						77.0	64.0	68.0					11																	65617468		2201	4297	6498	65374044	SO:0001819	synonymous_variant	254122	exon3			AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"""Sorting nexins"""	26423	protein-coding gene	gene with protein product			"""sorting nexin 6B"""	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.219C>A	11.37:g.65617468C>A			65374044	NM_152760	Q8IW53|Q96NG4	Silent	SNP	ENST00000308342.6	37	CCDS8113.2																																																																																				0.627	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250295.3	NM_152760	
PACS1	55690	broad.mit.edu	37	11	65977859	65977859	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:65977859C>T	ENST00000320580.4	+	3	504	c.471C>T	c.(469-471)aaC>aaT	p.N157N		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	157					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)	p.N157N(1)	RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TTCGCTCCAACGAGATCGTCC	0.488																																					p.N157N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C471T	11						.						144.0	128.0	133.0					11																	65977859		2201	4295	6496	65734435	SO:0001819	synonymous_variant	55690	exon3			AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.471C>T	11.37:g.65977859C>T			65734435	NM_018026	Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Silent	SNP	ENST00000320580.4	37	CCDS8129.1																																																																																				0.488	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026	
DPP3	10072	broad.mit.edu	37	11	66260595	66260595	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:66260595C>T	ENST00000360510.2	+	11	1306	c.1241C>T	c.(1240-1242)gCt>gTt	p.A414V	DPP3_ENST00000532677.1_Missense_Mutation_p.A433V|DPP3_ENST00000530165.1_Missense_Mutation_p.A384V|DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000541961.1_Missense_Mutation_p.A414V|DPP3_ENST00000531863.1_Missense_Mutation_p.A434V|DPP3_ENST00000453114.1_Missense_Mutation_p.A414V			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	414					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A414V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						AATGTGCTGGCTGTGGCCTAC	0.597																																					p.A414V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1241T	11						.						70.0	66.0	67.0					11																	66260595		2200	4295	6495	66017171	SO:0001583	missense	10072	exon11			AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.1241C>T	11.37:g.66260595C>T	ENSP00000353701:p.Ala414Val		66017171	NM_005700	B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	ENST00000360510.2	37	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.004989	0.93287	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000530165;ENST00000543807	T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92	5.39	5.39	0.77823	.	0.052171	0.85682	D	0.000000	T	0.48447	0.1500	M	0.79693	2.465	0.43835	D	0.996413	P;P	0.48294	0.908;0.764	P;P	0.54889	0.664;0.763	T	0.51826	-0.8656	10	0.62326	D	0.03	.	16.6649	0.85250	0.0:1.0:0.0:0.0	.	433;414	G3V1D3;Q9NY33	.;DPP3_HUMAN	V	434;433;414;414;414;384;312	ENSP00000432782:A434V;ENSP00000435284:A433V;ENSP00000353701:A414V;ENSP00000389943:A414V;ENSP00000440502:A414V;ENSP00000436941:A384V	ENSP00000353701:A414V	A	+	2	0	DPP3	66017171	1.000000	0.71417	0.995000	0.50966	0.930000	0.56654	5.191000	0.65110	2.525000	0.85131	0.655000	0.94253	GCT		0.597	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2		
CTSF	8722	broad.mit.edu	37	11	66328148	66328148	+	IGR	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:66328148G>A	ENST00000310325.5	-	0	2035				ACTN3_ENST00000502692.1_RNA|CTD-3074O7.2_ENST00000504911.1_lincRNA|ACTN3_ENST00000513398.1_RNA	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AGATCTGCCAGACGTATGGGC	0.592																																					p.Q594Q												.	.	0			c.G1782A	11						.						119.0	129.0	126.0					11																	66328148		2179	4266	6445	66084724	SO:0001628	intergenic_variant	89	exon15			AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090		11.37:g.66328148G>A			66084724	NM_001104	B2R964|O95240|Q9NSU4|Q9UKQ5	Silent	SNP	ENST00000310325.5	37	CCDS8144.1																																																																																				0.592	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793	
ANKRD13D	338692	broad.mit.edu	37	11	67067572	67067572	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:67067572G>A	ENST00000447274.2	+	10	1965	c.790G>A	c.(790-792)Gag>Aag	p.E264K	ANKRD13D_ENST00000515828.1_5'Flank|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.E351K|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.E264K|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.E264K			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	264						endosome (GO:0005768)|plasma membrane (GO:0005886)		p.E264K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CCGCCCCATCGAGATGTCCAG	0.607																																					p.E351K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1051A	11						.						114.0	107.0	109.0					11																	67067572		2200	4295	6495	66824148	SO:0001583	missense	338692	exon10			AK027313	CCDS31616.1, CCDS31616.2	11q13.2	2013-01-11		2005-08-09	ENSG00000172932	ENSG00000172932		"""Ankyrin repeat domain containing"""	27880	protein-coding gene	gene with protein product		615126					Standard	NM_207354		Approved		uc001okd.2	Q6ZTN6	OTTHUMG00000162929	ENST00000447274.2:c.790G>A	11.37:g.67067572G>A	ENSP00000402616:p.Glu264Lys		66824148	NM_207354	D6RCN6|Q0VAK0|Q0VGC3|Q6ZVD0|Q86SU1	Missense_Mutation	SNP	ENST00000447274.2	37		.	.	.	.	.	.	.	.	.	.	G	23.0	4.359481	0.82353	.	.	ENSG00000172932	ENST00000447274;ENST00000511455;ENST00000308440;ENST00000514166	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	4.65	4.65	0.58169	.	0.000000	0.64402	D	0.000003	T	0.57272	0.2042	M	0.78801	2.425	0.80722	D	1	D;P	0.57257	0.979;0.802	P;P	0.54238	0.746;0.521	T	0.56595	-0.7953	10	0.21540	T	0.41	-22.9973	17.3262	0.87248	0.0:0.0:1.0:0.0	.	351;264	Q6ZTN6-3;Q6ZTN6	.;AN13D_HUMAN	K	264;351;264;264	ENSP00000402616:E264K;ENSP00000427130:E351K;ENSP00000310874:E264K;ENSP00000444404:E264K	ENSP00000310874:E264K	E	+	1	0	ANKRD13D	66824148	1.000000	0.71417	0.996000	0.52242	0.762000	0.43233	7.554000	0.82212	2.415000	0.81967	0.563000	0.77884	GAG		0.607	ANKRD13D-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000371067.2	NM_207354	
NUMA1	4926	broad.mit.edu	37	11	71720050	71720050	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:71720050C>T	ENST00000393695.3	-	19	5352	c.5021G>A	c.(5020-5022)cGc>cAc	p.R1674H	NUMA1_ENST00000351960.6_Missense_Mutation_p.R538H|NUMA1_ENST00000358965.6_Missense_Mutation_p.R1660H	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1									p.R1674H(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						AGTAAGGTGGCGGCAGGTCTG	0.592			T	RARA	APL																																p.R1674H			Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5021A	11						.						61.0	59.0	60.0					11																	71720050		2200	4293	6493	71397698	SO:0001583	missense	4926	exon19			Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.5021G>A	11.37:g.71720050C>T	ENSP00000377298:p.Arg1674His		71397698	NM_006185		Missense_Mutation	SNP	ENST00000393695.3	37	CCDS31633.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.8|21.8	4.196707|4.196707	0.79015|0.79015	.|.	.|.	ENSG00000137497|ENSG00000137497	ENST00000541584|ENST00000351960;ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	.|T;T;T	.|0.43688	.|1.92;0.94;2.34	5.56|5.56	4.6|4.6	0.57074|0.57074	.|.	.|0.000000	.|0.52532	.|D	.|0.000063	T|T	0.43787|0.43787	0.1263|0.1263	L|L	0.27053|0.27053	0.805|0.805	0.33434|0.33434	D|D	0.581494|0.581494	.|D;D;D;D;D	.|0.89917	.|1.0;0.999;0.999;1.0;0.999	.|D;D;D;D;D	.|0.77004	.|0.989;0.933;0.933;0.989;0.937	T|T	0.55933|0.55933	-0.8062|-0.8062	5|10	.|0.49607	.|T	.|0.09	.|.	3.7742|3.7742	0.08653|0.08653	0.2076:0.6033:0.0:0.189|0.2076:0.6033:0.0:0.189	.|.	.|1680;1144;1660;1674;538	.|Q4LE64;Q59HB8;Q14980-2;Q14980;Q9BTE9	.|.;.;.;NUMA1_HUMAN;.	T|H	505|538;1660;1674;1223;629	.|ENSP00000260051:R538H;ENSP00000351851:R1660H;ENSP00000377298:R1674H	.|ENSP00000260051:R538H	A|R	-|-	1|2	0|0	NUMA1|NUMA1	71397698|71397698	0.992000|0.992000	0.36948|0.36948	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	0.509000|0.509000	0.22707|0.22707	2.618000|2.618000	0.88619|0.88619	0.561000|0.561000	0.74099|0.74099	GCC|CGC		0.592	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1		
PDE2A	5138	broad.mit.edu	37	11	72295716	72295716	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:72295716C>T	ENST00000334456.5	-	18	1661	c.1416G>A	c.(1414-1416)acG>acA	p.T472T	PDE2A_ENST00000376450.3_Silent_p.T216T|PDE2A_ENST00000540345.1_Silent_p.T463T|PDE2A_ENST00000444035.2_Silent_p.T463T|PDE2A_ENST00000544570.1_Silent_p.T465T|RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000418754.2_Silent_p.T357T	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	472	GAF 2.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)	p.T472T(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	GGATCTGGCCCGTGGTCGCCA	0.622																																					p.T472T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1416A	11						.						52.0	51.0	52.0					11																	72295716		2200	4293	6493	71973364	SO:0001819	synonymous_variant	5138	exon18			U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.1416G>A	11.37:g.72295716C>T			71973364	NM_002599	B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Silent	SNP	ENST00000334456.5	37	CCDS8216.1																																																																																				0.622	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599	
ARAP1	116985	broad.mit.edu	37	11	72397216	72397216	+	Silent	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:72397216G>T	ENST00000393609.3	-	34	4408	c.4206C>A	c.(4204-4206)ccC>ccA	p.P1402P	ARAP1_ENST00000359373.5_Silent_p.P1391P|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000334211.8_Silent_p.P1157P|ARAP1_ENST00000393605.3_Silent_p.P1162P|ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000426523.1_Silent_p.P1146P|ARAP1_ENST00000455638.2_Silent_p.P1391P|ARAP1_ENST00000429686.1_Silent_p.P1085P	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1402					actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.P1402P(1)|p.P1162P(1)		cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						AGGGCTCTGAGGGCCACACCA	0.627																																					p.P1402P	Ovarian(102;1198 1520 13195 17913 37529)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C4206A	11						.						35.0	34.0	34.0					11																	72397216		2200	4293	6493	72074864	SO:0001819	synonymous_variant	116985	exon34			AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.4206C>A	11.37:g.72397216G>T			72074864	NM_001040118	A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Silent	SNP	ENST00000393609.3	37	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.462339	0.26248	.	.	ENSG00000186635	ENST00000536885	.	.	.	5.31	3.32	0.38043	.	.	.	.	.	T	0.48857	0.1523	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41716	-0.9493	4	.	.	.	.	5.1538	0.15025	0.083:0.1454:0.6218:0.1499	.	.	.	.	I	55	.	.	L	-	1	0	ARAP1	72074864	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	0.923000	0.28757	2.673000	0.90976	0.555000	0.69702	CTC		0.627	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118	
SLCO2B1	11309	broad.mit.edu	37	11	74876903	74876903	+	Silent	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:74876903C>A	ENST00000289575.5	+	4	752	c.357C>A	c.(355-357)ggC>ggA	p.G119G	SLCO2B1_ENST00000454962.2_Silent_p.G3G|SLCO2B1_ENST00000525650.1_Intron|SLCO2B1_ENST00000532236.1_Silent_p.G3G|SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000428359.2_Silent_p.G97G|SLCO2B1_ENST00000341411.4_Silent_p.G3G	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	119					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.G119G(1)		breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	GAATGATTGGCTATGGGGCTA	0.572																																					p.G119G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C357A	11						.						153.0	150.0	151.0					11																	74876903		2200	4293	6493	74554551	SO:0001819	synonymous_variant	11309	exon4			AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.357C>A	11.37:g.74876903C>A			74554551	NM_007256	A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Silent	SNP	ENST00000289575.5	37	CCDS8235.1																																																																																				0.572	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256	
CAPN5	726	broad.mit.edu	37	11	76826575	76826575	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:76826575C>T	ENST00000278559.3	+	6	1023	c.834C>T	c.(832-834)gaC>gaT	p.D278D	CAPN5_ENST00000456580.2_Silent_p.D318D|CAPN5_ENST00000529629.1_Silent_p.D278D|CAPN5_ENST00000531028.1_Intron	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	278	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.D278D(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						AGAAGTTGGACATGATCCGCC	0.662																																					p.D278D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C834T	11						.						43.0	41.0	42.0					11																	76826575		2200	4292	6492	76504223	SO:0001819	synonymous_variant	726	exon6				CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"""vitreoretinopathy, neovascular inflammatory"""	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.834C>T	11.37:g.76826575C>T			76504223	NM_004055	O00263	Silent	SNP	ENST00000278559.3	37	CCDS8248.1																																																																																				0.662	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382564.2	NM_004055	
MYO7A	4647	broad.mit.edu	37	11	76872107	76872107	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:76872107G>A	ENST00000409709.3	+	12	1561	c.1289G>A	c.(1288-1290)cGc>cAc	p.R430H	MYO7A_ENST00000409893.1_Missense_Mutation_p.R430H|MYO7A_ENST00000409619.2_Missense_Mutation_p.R419H|MYO7A_ENST00000458637.2_Missense_Mutation_p.R430H	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	430	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)	p.R430H(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AAGAACTCTCGCAGGTCCATC	0.537																																					p.R430H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1289A	11						.						93.0	104.0	101.0					11																	76872107		2043	4184	6227	76549755	SO:0001583	missense	4647	exon12			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.1289G>A	11.37:g.76872107G>A	ENSP00000386331:p.Arg430His		76549755	NM_001127179	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.616146	0.87359	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	5.48	5.48	0.80851	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.91978	0.7459	L	0.49256	1.55	0.58432	D	0.999999	D;B;D	0.89917	1.0;0.397;1.0	D;B;D	0.78314	0.985;0.119;0.991	D	0.92301	0.5849	10	0.66056	D	0.02	.	19.342	0.94347	0.0:0.0:1.0:0.0	.	430;430;430	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	H	430;430;430;419;429;429;352;429	ENSP00000386331:R430H;ENSP00000386689:R430H;ENSP00000392185:R430H;ENSP00000386635:R419H	ENSP00000345075:R352H	R	+	2	0	MYO7A	76549755	0.980000	0.34600	0.998000	0.56505	0.884000	0.51177	5.675000	0.68123	2.574000	0.86865	0.585000	0.79938	CGC		0.537	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260	
MYO7A	4647	broad.mit.edu	37	11	76903297	76903297	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:76903297A>G	ENST00000409709.3	+	31	4398	c.4126A>G	c.(4126-4128)Aag>Gag	p.K1376E	MYO7A_ENST00000409619.2_Missense_Mutation_p.K1365E|MYO7A_ENST00000458637.2_Missense_Mutation_p.K1376E	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1376	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)	p.K1376E(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCGAGGAGTCAAGTTTGGGGA	0.597											OREG0021258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.K1376E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4126G	11						.						120.0	133.0	129.0					11																	76903297		2188	4270	6458	76580945	SO:0001583	missense	4647	exon31			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.4126A>G	11.37:g.76903297A>G	ENSP00000386331:p.Lys1376Glu	1171	76580945	NM_000260	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.637502	0.87760	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169	T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63	4.83	4.83	0.62350	FERM central domain (1);Band 4.1 domain (1);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	D	0.86108	0.5854	M	0.90425	3.115	0.80722	D	1	D;P;D	0.71674	0.992;0.881;0.998	D;P;D	0.74674	0.936;0.511;0.984	D	0.89017	0.3432	10	0.66056	D	0.02	.	14.4085	0.67099	1.0:0.0:0.0:0.0	.	1365;1376;1376	B9A011;F8VUN5;Q13402	.;.;MYO7A_HUMAN	E	1376;1376;1365;587;1375;1345;1252;557	ENSP00000386331:K1376E;ENSP00000392185:K1376E;ENSP00000386635:K1365E;ENSP00000417017:K557E	ENSP00000345075:K1252E	K	+	1	0	MYO7A	76580945	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	7.144000	0.77357	1.799000	0.52666	0.472000	0.43445	AAG		0.597	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260	
AQP11	282679	broad.mit.edu	37	11	77301266	77301266	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:77301266T>C	ENST00000313578.3	+	1	587	c.229T>C	c.(229-231)Tgg>Cgg	p.W77R	AQP11_ENST00000528638.1_Intron	NM_173039.2	NP_766627.1	Q8NBQ7	AQP11_HUMAN	aquaporin 11	77					endosomal lumen acidification (GO:0048388)|protein homooligomerization (GO:0051260)|proximal tubule development (GO:0072014)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.W77R(1)		kidney(2)|large_intestine(1)|lung(5)	8	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			GCACCCCACCTGGACGCTGAC	0.632																																					p.W77R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T229C	11						.						48.0	48.0	48.0					11																	77301266		2200	4292	6492	76978914	SO:0001583	missense	282679	exon1			AB028147	CCDS8251.1	11q13.5	2008-02-05			ENSG00000178301	ENSG00000178301		"""Ion channels / Aquaporins"""	19940	protein-coding gene	gene with protein product		609914				16107722	Standard	NM_173039		Approved		uc001oyj.3	Q8NBQ7	OTTHUMG00000165194	ENST00000313578.3:c.229T>C	11.37:g.77301266T>C	ENSP00000318770:p.Trp77Arg		76978914	NM_173039		Missense_Mutation	SNP	ENST00000313578.3	37	CCDS8251.1	.	.	.	.	.	.	.	.	.	.	T	19.58	3.854556	0.71719	.	.	ENSG00000178301	ENST00000313578	D	0.86769	-2.17	5.53	5.53	0.82687	Aquaporin-like (2);	0.473901	0.23206	N	0.050732	D	0.90882	0.7135	L	0.57536	1.79	0.36208	D	0.851189	D	0.76494	0.999	D	0.71184	0.972	D	0.90827	0.4713	10	0.23302	T	0.38	2.2033	13.6146	0.62099	0.0:0.0:0.0:1.0	.	77	Q8NBQ7	AQP11_HUMAN	R	77	ENSP00000318770:W77R	ENSP00000318770:W77R	W	+	1	0	AQP11	76978914	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.213000	0.58520	2.103000	0.63969	0.397000	0.26171	TGG		0.632	AQP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382582.1	NM_173039	
TENM4	26011	broad.mit.edu	37	11	78387290	78387290	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:78387290C>T	ENST00000278550.7	-	30	5865	c.5403G>A	c.(5401-5403)acG>acA	p.T1801T		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1801					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										CGATGGGCAGCGTGACATTCC	0.677																																					p.T1801T												.	.	0			c.G5403A	11						.						24.0	30.0	28.0					11																	78387290		2138	4234	6372	78064938	SO:0001819	synonymous_variant	26011	exon30			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.5403G>A	11.37:g.78387290C>T			78064938	NM_001098816	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	ENST00000278550.7	37	CCDS44688.1																																																																																				0.677	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2		
TENM4	26011	broad.mit.edu	37	11	78419559	78419559	+	Splice_Site	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:78419559G>T	ENST00000278550.7	-	27	4518	c.4056C>A	c.(4054-4056)ggC>ggA	p.G1352G		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1352					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.G1352G(2)									CCACTGTAATGCCTGGGGGCA	0.517																																					p.G1352G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C4056A	11						.						71.0	69.0	70.0					11																	78419559		2055	4211	6266	78097207	SO:0001630	splice_region_variant	26011	exon27			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.4055-1C>A	11.37:g.78419559G>T			78097207	NM_001098816	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	ENST00000278550.7	37	CCDS44688.1																																																																																				0.517	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2		Silent
DDIAS	220042	broad.mit.edu	37	11	82625843	82625843	+	Missense_Mutation	SNP	A	A	G	rs150528544		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:82625843A>G	ENST00000533655.1	+	3	275	c.63A>G	c.(61-63)atA>atG	p.I21M	C11orf82_ENST00000525388.1_Missense_Mutation_p.I21M|C11orf82_ENST00000525361.1_Missense_Mutation_p.I21M|C11orf82_ENST00000524921.1_Missense_Mutation_p.I21M|C11orf82_ENST00000430323.2_Missense_Mutation_p.I21M|C11orf82_ENST00000329143.3_5'UTR|C11orf82_ENST00000528759.1_Missense_Mutation_p.I21M	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		21					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.I21M(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						CAAGTTTTATATATCCATCAT	0.388																																					p.I21M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A63G	11						.	A	MET/ILE	1,4403	2.1+/-5.4	0,1,2201	123.0	118.0	120.0		63	-2.8	1.0	11	dbSNP_134	120	0,8600		0,0,4300	no	missense	C11orf82	NM_145018.3	10	0,1,6501	GG,GA,AA		0.0,0.0227,0.0077	possibly-damaging	21/999	82625843	1,13003	2202	4300	6502	82303491	SO:0001583	missense	220042	exon3																														ENST00000533655.1:c.63A>G	11.37:g.82625843A>G	ENSP00000435421:p.Ile21Met		82303491	NM_145018	Q96LK6|Q9H856	Missense_Mutation	SNP	ENST00000533655.1	37	CCDS8263.1	.	.	.	.	.	.	.	.	.	.	A	12.87	2.066531	0.36470	2.27E-4	0.0	ENSG00000165490	ENST00000532277;ENST00000524921;ENST00000528759;ENST00000525361;ENST00000430323;ENST00000533655;ENST00000532764;ENST00000532589;ENST00000525388;ENST00000528262	T;T	0.16457	2.34;2.34	5.55	-2.82	0.05787	Nucleic acid-binding, OB-fold-like (1);Replication factor A, C-terminal (1);Nucleic acid-binding, OB-fold (1);	0.292607	0.34435	N	0.003971	T	0.14399	0.0348	M	0.68317	2.08	0.80722	D	1	B;P	0.41420	0.135;0.749	B;B	0.42462	0.033;0.388	T	0.09465	-1.0673	9	.	.	.	.	1.9102	0.03285	0.2828:0.3658:0.2298:0.1216	.	21;21	Q8IXT1-2;Q8IXT1	.;NOXIN_HUMAN	M	21;21;21;21;21;21;82;21;21;21	ENSP00000414687:I21M;ENSP00000435421:I21M	.	I	+	3	3	C11orf82	82303491	0.996000	0.38824	0.995000	0.50966	0.636000	0.38137	0.176000	0.16782	-0.170000	0.10816	0.533000	0.62120	ATA		0.388	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1		
FZD4	8322	broad.mit.edu	37	11	86663127	86663127	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:86663127G>T	ENST00000531380.1	-	2	976	c.671C>A	c.(670-672)gCt>gAt	p.A224D	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	224					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.A224D(1)		breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GGCCCACACAGCCATCCAGAT	0.502																																					p.A224D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C671A	11						.						84.0	74.0	77.0					11																	86663127		2201	4299	6500	86340775	SO:0001583	missense	8322	exon2			AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4042	protein-coding gene	gene with protein product		604579	"""frizzled (Drosophila) homolog 4"", ""exudative vitreoretinopathy 1"", ""frizzled homolog 4 (Drosophila)"", ""frizzled 4, seven transmembrane spanning receptor"", ""frizzled family receptor 4"""	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.671C>A	11.37:g.86663127G>T	ENSP00000434034:p.Ala224Asp		86340775	NM_012193	A8K9Q3|Q14C97|Q6S9E4	Missense_Mutation	SNP	ENST00000531380.1	37	CCDS8279.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426524	0.83667	.	.	ENSG00000174804	ENST00000531380	D	0.84370	-1.84	5.74	5.74	0.90152	GPCR, family 2-like (1);	0.149905	0.64402	D	0.000017	D	0.93510	0.7929	M	0.86420	2.815	0.80722	D	1	D	0.63880	0.993	D	0.70487	0.969	D	0.93366	0.6731	9	.	.	.	.	19.9231	0.97094	0.0:0.0:1.0:0.0	.	224	Q9ULV1	FZD4_HUMAN	D	224	ENSP00000434034:A224D	.	A	-	2	0	FZD4	86340775	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.876000	0.87215	2.717000	0.92951	0.655000	0.94253	GCT		0.502	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393818.2	NM_012193	
GRM5	2915	broad.mit.edu	37	11	88386415	88386415	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:88386415T>A	ENST00000305447.4	-	3	1217	c.1068A>T	c.(1066-1068)caA>caT	p.Q356H	GRM5_ENST00000393297.1_Missense_Mutation_p.Q356H|GRM5_ENST00000418177.2_Missense_Mutation_p.Q356H|GRM5_ENST00000305432.5_Missense_Mutation_p.Q356H|GRM5_ENST00000455756.2_Missense_Mutation_p.Q356H	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	356					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.Q356H(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	GCCAAAATTCTTGAAACCAAG	0.428																																					p.Q356H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1068T	11						.						88.0	89.0	89.0					11																	88386415		2201	4299	6500	88026063	SO:0001583	missense	2915	exon4			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1068A>T	11.37:g.88386415T>A	ENSP00000306138:p.Gln356His		88026063	NM_000842	Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	T	19.71	3.879235	0.72294	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1;-2.1	5.53	3.23	0.37069	Extracellular ligand-binding receptor (1);	0.051919	0.85682	D	0.000000	D	0.83166	0.5195	N	0.20986	0.625	0.45704	D	0.99861	D;D	0.56287	0.969;0.975	P;P	0.58077	0.655;0.832	T	0.78904	-0.2020	9	.	.	.	.	5.3752	0.16162	0.0:0.387:0.0:0.613	.	356;356	P41594-2;P41594	.;GRM5_HUMAN	H	356	ENSP00000402912:Q356H;ENSP00000405690:Q356H;ENSP00000305905:Q356H;ENSP00000306138:Q356H;ENSP00000376975:Q356H	.	Q	-	3	2	GRM5	88026063	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.599000	0.24089	0.928000	0.37168	0.482000	0.46254	CAA		0.428	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842	
GRM5	2915	broad.mit.edu	37	11	88780642	88780642	+	Silent	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:88780642G>T	ENST00000305447.4	-	1	548	c.399C>A	c.(397-399)tcC>tcA	p.S133S	GRM5_ENST00000393297.1_Silent_p.S133S|GRM5_ENST00000393294.3_Silent_p.S133S|GRM5_ENST00000418177.2_Silent_p.S133S|GRM5_ENST00000305432.5_Silent_p.S133S|GRM5_ENST00000455756.2_Silent_p.S133S	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	133					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.S133S(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	AGGAAGAGGAGGAGCCATCCA	0.517																																					p.S133S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C399A	11						.						77.0	68.0	71.0					11																	88780642		2201	4299	6500	88420290	SO:0001819	synonymous_variant	2915	exon2			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.399C>A	11.37:g.88780642G>T			88420290	NM_000842	Q6J164	Silent	SNP	ENST00000305447.4	37	CCDS44694.1																																																																																				0.517	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842	
TYR	7299	broad.mit.edu	37	11	88961057	88961057	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:88961057T>A	ENST00000263321.5	+	3	1605	c.1103T>A	c.(1102-1104)aTc>aAc	p.I368N		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	368					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.I368N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	GCCTTGCACATCTATATGAAT	0.388																																					p.I368N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1103A	11						.						161.0	131.0	141.0					11																	88961057		2201	4298	6499	88600705	SO:0001583	missense	7299	exon3			M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.1103T>A	11.37:g.88961057T>A	ENSP00000263321:p.Ile368Asn		88600705	NM_000372	Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.486860	0.84854	.	.	ENSG00000077498	ENST00000263321	D	0.98849	-5.18	5.07	5.07	0.68467	Tyrosinase (2);Uncharacterised domain, di-copper centre (2);	0.117441	0.64402	D	0.000014	D	0.97860	0.9297	L	0.39147	1.195	0.51767	D	0.999931	P	0.46512	0.879	P	0.54210	0.745	D	0.97660	1.0160	9	.	.	.	.	14.8101	0.69989	0.0:0.0:0.0:1.0	.	368	P14679	TYRO_HUMAN	N	368	ENSP00000263321:I368N	.	I	+	2	0	TYR	88600705	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.431000	0.80335	2.035000	0.60131	0.528000	0.53228	ATC		0.388	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372	
NOX4	50507	broad.mit.edu	37	11	89133506	89133506	+	Silent	SNP	G	G	A	rs139363194	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:89133506G>A	ENST00000263317.4	-	10	1126	c.888C>T	c.(886-888)gcC>gcT	p.A296A	NOX4_ENST00000528341.1_Silent_p.A271A|NOX4_ENST00000413594.2_Silent_p.A317A|NOX4_ENST00000343727.5_Silent_p.A272A|NOX4_ENST00000527956.1_Silent_p.A272A|NOX4_ENST00000532825.1_Silent_p.A272A|NOX4_ENST00000527626.1_Silent_p.A130A|NOX4_ENST00000534731.1_Silent_p.A296A|NOX4_ENST00000424319.1_Silent_p.A272A|NOX4_ENST00000535633.1_Silent_p.A272A|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000542487.1_Silent_p.A272A			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	296	Ferric oxidoreductase.|Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.A296A(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AAAGTCTTTCGGCACAGTACA	0.393																																					p.A296A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C888T	11						.						62.0	58.0	59.0					11																	89133506		2201	4299	6500	88773154	SO:0001819	synonymous_variant	50507	exon10			AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.888C>T	11.37:g.89133506G>A			88773154	NM_016931	A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Silent	SNP	ENST00000263317.4	37	CCDS8285.1																																																																																				0.393	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931	
MTMR2	8898	broad.mit.edu	37	11	95582865	95582865	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:95582865C>T	ENST00000346299.5	-	9	1306	c.966G>A	c.(964-966)cgG>cgA	p.R322R	MTMR2_ENST00000484818.1_5'Flank|MTMR2_ENST00000393223.3_Silent_p.R250R|MTMR2_ENST00000352297.7_Silent_p.R250R|MTMR2_ENST00000409459.1_Silent_p.R250R	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	322	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R322R(1)|p.R250R(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TAACACTTGGCCGGGCATCAA	0.408																																					p.R250R												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G750A	11						.						167.0	167.0	167.0					11																	95582865		2201	4298	6499	95222513	SO:0001819	synonymous_variant	8898	exon11			U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.966G>A	11.37:g.95582865C>T			95222513	NM_201278	A6NN98|Q9UPS9	Silent	SNP	ENST00000346299.5	37	CCDS8305.1																																																																																				0.408	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332620.1	NM_016156	
BCL9L	283149	broad.mit.edu	37	11	118773098	118773098	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:118773098delG	ENST00000334801.3	-	6	2318	c.1354delC	c.(1354-1356)cagfs	p.Q453fs	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	453	Necessary for interaction with CTNNB1. {ECO:0000250}.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)	p.Q452fs*11(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GGTGGCTGCTGGGGGGGAGGG	0.682																																					p.Q452fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.1354delC	11						.						13.0	17.0	16.0					11																	118773098		1652	3527	5179	118278308	SO:0001589	frameshift_variant	283149	exon6			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.1354delC	11.37:g.118773098delG	ENSP00000335320:p.Gln453fs		118278308	NM_182557	A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Frame_Shift_Del	DEL	ENST00000334801.3	37	CCDS8403.1																																																																																				0.682	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557	
GLB1L2	89944	broad.mit.edu	37	11	134228967	134228967	+	Missense_Mutation	SNP	G	G	A	rs200721051		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr11:134228967G>A	ENST00000535456.2	+	7	853	c.665G>A	c.(664-666)cGt>cAt	p.R222H	GLB1L2_ENST00000389881.3_Missense_Mutation_p.R222H|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Missense_Mutation_p.R222H	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	222					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)	p.R222H(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CTGGAGGACCGTGGCATTGTG	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		17669	0.001		0.0	False		,,,				2504	0.0				p.R222H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G665A	11						.						210.0	180.0	190.0					11																	134228967		2201	4297	6498	133734177	SO:0001583	missense	89944	exon7				CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.665G>A	11.37:g.134228967G>A	ENSP00000444628:p.Arg222His		133734177	NM_138342	A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Missense_Mutation	SNP	ENST00000535456.2	37	CCDS31724.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	15.88	2.965078	0.53507	.	.	ENSG00000149328	ENST00000339772;ENST00000535456;ENST00000389881	D;D;D	0.98135	-4.74;-4.74;-4.74	4.72	4.72	0.59763	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.96959	0.9007	L	0.53780	1.695	0.29460	N	0.857823	P	0.51791	0.948	P	0.48488	0.579	D	0.94619	0.7811	10	0.54805	T	0.06	-15.4659	16.6161	0.84916	0.0:0.0:1.0:0.0	.	222	Q8IW92	GLBL2_HUMAN	H	222	ENSP00000344659:R222H;ENSP00000444628:R222H;ENSP00000374531:R222H	ENSP00000344659:R222H	R	+	2	0	GLB1L2	133734177	0.997000	0.39634	0.937000	0.37676	0.298000	0.27526	5.973000	0.70456	2.460000	0.83146	0.561000	0.74099	CGT		0.582	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2	NM_138342	
MYBPC1	4604	broad.mit.edu	37	12	102010987	102010987	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:102010987T>C	ENST00000550270.1	+	3	69	c.69T>C	c.(67-69)agT>agC	p.S23S	MYBPC1_ENST00000441232.1_Silent_p.S23S|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000360610.2_Silent_p.S23S|MYBPC1_ENST00000361685.2_Silent_p.S23S|MYBPC1_ENST00000547405.1_Intron|MYBPC1_ENST00000361466.2_Silent_p.S23S|MYBPC1_ENST00000553190.1_Silent_p.S23S|MYBPC1_ENST00000392934.3_Intron|MYBPC1_ENST00000547509.1_Intron|MYBPC1_ENST00000452455.2_Silent_p.S23S|MYBPC1_ENST00000545503.2_Silent_p.S23S|MYBPC1_ENST00000549145.1_Silent_p.S23S|MYBPC1_ENST00000536007.1_Silent_p.S23S|MYBPC1_ENST00000541119.1_Silent_p.S11S|MYBPC1_ENST00000551300.1_5'UTR			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	23					cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.S23S(2)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CAGAACCAAGTAAAGAGAAGG	0.428																																					p.S23S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T69C	12						.						65.0	65.0	65.0					12																	102010987		2203	4300	6503	100535118	SO:0001819	synonymous_variant	4604	exon3				CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.69T>C	12.37:g.102010987T>C			100535118	NM_002465	B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Silent	SNP	ENST00000550270.1	37	CCDS9085.1																																																																																				0.428	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1		
C12orf42	374470	broad.mit.edu	37	12	103696167	103696167	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:103696167C>T	ENST00000378113.2	-	6	1027	c.802G>A	c.(802-804)Gcg>Acg	p.A268T	C12orf42_ENST00000548883.1_Missense_Mutation_p.A268T|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548048.1_Missense_Mutation_p.A201T	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	268								p.A268T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						TTTCCGGACGCGCCCAGGAGT	0.667																																					p.A268T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G802A	12						.						53.0	62.0	59.0					12																	103696167		2061	4219	6280	102220297	SO:0001583	missense	374470	exon6			AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.802G>A	12.37:g.103696167C>T	ENSP00000367353:p.Ala268Thr		102220297	NM_001099336	Q49A64|Q4G0S2	Missense_Mutation	SNP	ENST00000378113.2	37	CCDS44963.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.431947	0.43122	.	.	ENSG00000179088	ENST00000548883;ENST00000548048;ENST00000378113	T;T;T	0.52526	0.66;0.66;0.66	4.42	1.44	0.22558	.	2.020920	0.02528	N	0.093292	T	0.29620	0.0739	N	0.17082	0.46	0.09310	N	1	B	0.34181	0.44	B	0.19148	0.024	T	0.18681	-1.0329	10	0.24483	T	0.36	4.3776	8.9747	0.35928	0.0:0.6519:0.0:0.3481	.	268	Q96LP6	CL042_HUMAN	T	268;201;268	ENSP00000447908:A268T;ENSP00000449362:A201T;ENSP00000367353:A268T	ENSP00000367353:A268T	A	-	1	0	C12orf42	102220297	0.000000	0.05858	0.000000	0.03702	0.310000	0.27922	-0.778000	0.04664	0.156000	0.19299	0.561000	0.74099	GCG		0.667	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406754.1	NM_198521	
KLRC3	3823	broad.mit.edu	37	12	10587944	10587944	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:10587944C>T	ENST00000539033.1	-	2	267	c.253G>A	c.(253-255)Gcc>Acc	p.A85T	KLRC2_ENST00000381902.2_Missense_Mutation_p.A85T|KLRC2_ENST00000536833.2_Missense_Mutation_p.A26T|KLRC2_ENST00000381901.1_Missense_Mutation_p.A85T														p.A85T(1)									AACACAGTGGCCATCAGGACA	0.428																																					p.A85T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G253A	12						.						116.0	135.0	128.0					12																	10587944		2202	4295	6497	10479211	SO:0001583	missense	3823	exon2																														ENST00000539033.1:c.253G>A	12.37:g.10587944C>T	ENSP00000437563:p.Ala85Thr		10479211	NM_002260		Missense_Mutation	SNP	ENST00000539033.1	37		.	.	.	.	.	.	.	.	.	.	C	9.367	1.069476	0.20147	.	.	ENSG00000255641;ENSG00000205809;ENSG00000205809;ENSG00000205809	ENST00000539033;ENST00000381902;ENST00000381901;ENST00000536833	T;T;T;T	0.08458	3.44;3.44;3.44;3.09	2.99	-2.56	0.06268	C-type lectin fold (1);	1.318270	0.05070	N	0.481478	T	0.13927	0.0337	M	0.71206	2.165	0.09310	N	1	B;B;P	0.36048	0.311;0.088;0.534	B;B;B	0.38755	0.097;0.097;0.281	T	0.42699	-0.9436	10	0.62326	D	0.03	.	10.537	0.45009	0.6936:0.3064:0.0:0.0	.	71;85;85	Q3KQS7;P26717;F5H6K3	.;NKG2C_HUMAN;.	T	85;85;85;26	ENSP00000437563:A85T;ENSP00000371327:A85T;ENSP00000371326:A85T;ENSP00000444754:A26T	ENSP00000371326:A85T	A	-	1	0	KLRC2;RP11-277P12.6	10479211	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.409000	0.21082	-0.666000	0.05310	-1.745000	0.00682	GCC		0.428	NKG2-E-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000400274.1		
KIAA1033	23325	broad.mit.edu	37	12	105534714	105534714	+	Missense_Mutation	SNP	G	G	A	rs190348595		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:105534714G>A	ENST00000332180.5	+	17	1685	c.1598G>A	c.(1597-1599)cGt>cAt	p.R533H		NM_015275.1	NP_056090.1			KIAA1033									p.R533H(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						AGCGAACAGCGTCTTGATGTG	0.378													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19972	0.0		0.0	False		,,,				2504	0.0				p.R533H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1598A	12						.						144.0	134.0	137.0					12																	105534714		1873	4116	5989	104058844	SO:0001583	missense	23325	exon17			AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.1598G>A	12.37:g.105534714G>A	ENSP00000328062:p.Arg533His		104058844	NM_015275		Missense_Mutation	SNP	ENST00000332180.5	37	CCDS41826.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	18.40	3.615942	0.66672	.	.	ENSG00000136051	ENST00000332180	T	0.31247	1.5	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.29256	0.0728	L	0.37630	1.12	0.80722	D	1	B;B	0.14438	0.01;0.01	B;B	0.12837	0.008;0.008	T	0.02877	-1.1099	10	0.36615	T	0.2	.	19.5261	0.95208	0.0:0.0:1.0:0.0	.	534;533	B7ZKT9;Q2M389	.;WASH7_HUMAN	H	533	ENSP00000328062:R533H	ENSP00000328062:R533H	R	+	2	0	KIAA1033	104058844	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.668000	0.90789	0.650000	0.86243	CGT		0.378	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	NM_015275	
NUAK1	9891	broad.mit.edu	37	12	106466540	106466540	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:106466540G>A	ENST00000261402.2	-	5	2040	c.661C>T	c.(661-663)Cct>Tct	p.P221S		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	221	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)	p.P221S(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						ACAATCTCAGGAGATGCATAG	0.512																																					p.P221S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C661T	12						.						110.0	100.0	104.0					12																	106466540		2203	4300	6503	104990670	SO:0001583	missense	9891	exon5			AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"""AMP-activated protein kinase family member 5"""	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.661C>T	12.37:g.106466540G>A	ENSP00000261402:p.Pro221Ser		104990670	NM_014840	A7MD39|Q96KA8	Missense_Mutation	SNP	ENST00000261402.2	37	CCDS31892.1	.	.	.	.	.	.	.	.	.	.	G	32	5.173794	0.94807	.	.	ENSG00000074590	ENST00000261402;ENST00000548902	T;T	0.75154	-0.91;-0.91	5.89	5.89	0.94794	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	0.56097	D	0.000026	D	0.92714	0.7684	H	0.98701	4.305	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94991	0.8134	10	0.87932	D	0	.	20.2566	0.98424	0.0:0.0:1.0:0.0	.	221	O60285	NUAK1_HUMAN	S	221;90	ENSP00000261402:P221S;ENSP00000448288:P90S	ENSP00000261402:P221S	P	-	1	0	NUAK1	104990670	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	9.809000	0.99208	2.793000	0.96121	0.561000	0.74099	CCT		0.512	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	NM_014840	
RFX4	5992	broad.mit.edu	37	12	107048084	107048084	+	Silent	SNP	C	C	T	rs180718828		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:107048084C>T	ENST00000392842.1	+	4	684	c.270C>T	c.(268-270)tgC>tgT	p.C90C	RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Silent_p.C99C	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	90					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.C99C(1)|p.C90C(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						TGGATTTCTGCGAGAAGAATG	0.498																																					p.C90C												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C270T	12						.						112.0	99.0	104.0					12																	107048084		2203	4300	6503	105572214	SO:0001819	synonymous_variant	5992	exon4			AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.270C>T	12.37:g.107048084C>T			105572214	NM_213594	A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Silent	SNP	ENST00000392842.1	37	CCDS9106.1																																																																																				0.498	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491	
BTBD11	121551	broad.mit.edu	37	12	108011201	108011201	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:108011201C>T	ENST00000280758.5	+	9	2747	c.2219C>T	c.(2218-2220)gCc>gTc	p.A740V	RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000490090.2_Missense_Mutation_p.A740V|BTBD11_ENST00000357167.4_Missense_Mutation_p.A277V|BTBD11_ENST00000420571.2_Intron	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	740						integral component of membrane (GO:0016021)		p.A740V(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CAGGCTGCAGCCCACGGACAC	0.542																																					p.A277V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C830T	12						.						58.0	59.0	59.0					12																	108011201		2203	4300	6503	106535331	SO:0001583	missense	121551	exon7			AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2219C>T	12.37:g.108011201C>T	ENSP00000280758:p.Ala740Val		106535331	NM_001017523	A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	C	33	5.262728	0.95399	.	.	ENSG00000151136	ENST00000280758;ENST00000490090;ENST00000357167	T;T;T	0.53640	0.61;0.61;0.61	5.49	5.49	0.81192	Ankyrin repeat-containing domain (2);	0.046284	0.85682	D	0.000000	T	0.62853	0.2462	L	0.41906	1.305	0.80722	D	1	P;P;D	0.89917	0.896;0.939;1.0	P;P;D	0.79784	0.649;0.795;0.993	T	0.64266	-0.6448	10	0.66056	D	0.02	.	19.3748	0.94503	0.0:1.0:0.0:0.0	.	277;740;740	E9PHS4;A6QL63;A6QL63-3	.;BTBDB_HUMAN;.	V	740;740;277	ENSP00000280758:A740V;ENSP00000447319:A740V;ENSP00000349690:A277V	ENSP00000280758:A740V	A	+	2	0	BTBD11	106535331	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.572000	0.86782	0.655000	0.94253	GCC		0.542	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322	
PRDM4	11108	broad.mit.edu	37	12	108138408	108138408	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:108138408C>A	ENST00000228437.5	-	7	1766	c.1307G>T	c.(1306-1308)cGg>cTg	p.R436L	RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	436	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)	p.R436L(1)		biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						AAAGCAAGTCCGCACAGGAAT	0.458																																					p.R436L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1307T	12						.						160.0	138.0	145.0					12																	108138408		2203	4300	6503	106662538	SO:0001583	missense	11108	exon7			AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"""Zinc fingers, C2H2-type"""	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.1307G>T	12.37:g.108138408C>A	ENSP00000228437:p.Arg436Leu		106662538	NM_012406	Q9UFA6	Missense_Mutation	SNP	ENST00000228437.5	37	CCDS9115.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917692	0.92249	.	.	ENSG00000110851	ENST00000228437;ENST00000550659	T;T	0.47869	0.83;0.83	5.88	4.99	0.66335	SET domain (2);	0.000000	0.85682	D	0.000000	T	0.49695	0.1572	M	0.78049	2.395	0.58432	D	0.999996	B	0.26445	0.149	B	0.21708	0.036	T	0.47873	-0.9083	10	0.30854	T	0.27	-1.7026	14.8655	0.70412	0.0:0.9315:0.0:0.0685	.	436	Q9UKN5	PRDM4_HUMAN	L	436;188	ENSP00000228437:R436L;ENSP00000449295:R188L	ENSP00000228437:R436L	R	-	2	0	PRDM4	106662538	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.426000	0.80270	1.494000	0.48533	0.655000	0.94253	CGG		0.458	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	NM_012406	
SSH1	54434	broad.mit.edu	37	12	109181910	109181910	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:109181910C>T	ENST00000326495.5	-	15	3097	c.3004G>A	c.(3004-3006)Gct>Act	p.A1002T	SSH1_ENST00000360239.3_Missense_Mutation_p.A690T	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	1002	Interaction with YWHAG.				actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.A1002T(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGGGAGTCAGCGACGGTGGAC	0.587																																					p.A1002T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3004A	12						.						143.0	145.0	144.0					12																	109181910		2203	4300	6503	107706039	SO:0001583	missense	54434	exon15			BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.3004G>A	12.37:g.109181910C>T	ENSP00000315713:p.Ala1002Thr		107706039	NM_018984	Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	C	7.222	0.597595	0.13875	.	.	ENSG00000084112	ENST00000360239;ENST00000326495	T;T	0.11495	2.96;2.77	5.2	-0.737	0.11129	.	0.569525	0.17827	N	0.160657	T	0.05273	0.0140	L	0.27053	0.805	0.09310	N	1	B;B	0.12630	0.004;0.006	B;B	0.11329	0.002;0.006	T	0.45264	-0.9273	10	0.06625	T	0.88	-4.2751	6.6191	0.22792	0.117:0.3969:0.0:0.4861	.	1002;690	Q8WYL5;Q8WYL5-4	SSH1_HUMAN;.	T	690;1002	ENSP00000353374:A690T;ENSP00000315713:A1002T	ENSP00000315713:A1002T	A	-	1	0	SSH1	107706039	0.052000	0.20516	0.000000	0.03702	0.001000	0.01503	0.416000	0.21198	-0.322000	0.08615	-1.223000	0.01593	GCT		0.587	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984	
MYO1H	283446	broad.mit.edu	37	12	109881344	109881344	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:109881344A>G	ENST00000431443.2	+	27	2696	c.2696A>G	c.(2695-2697)gAc>gGc	p.D899G	MYO1H_ENST00000310903.5_Missense_Mutation_p.D889G|RP11-256L11.3_ENST00000539987.1_RNA	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	899	Myosin tail. {ECO:0000255}.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.D889G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						ATTAAATATGACAGAAAAGGC	0.478																																					p.D889G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2666G	12						.						57.0	54.0	55.0					12																	109881344		1898	4112	6010	108365727	SO:0001583	missense	283446	exon27				CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.2696A>G	12.37:g.109881344A>G	ENSP00000444076:p.Asp899Gly		108365727	NM_001101421	F5H3C6	Missense_Mutation	SNP	ENST00000431443.2	37		.	.	.	.	.	.	.	.	.	.	A	24.1	4.498008	0.85069	.	.	ENSG00000174527	ENST00000310903;ENST00000431443;ENST00000542268	T;T	0.38240	1.15;1.15	5.47	5.47	0.80525	Myosin tail 2 (1);	0.000000	0.49305	D	0.000147	T	0.63105	0.2483	M	0.88979	2.995	0.50467	D	0.999879	D;D	0.64830	0.994;0.992	P;P	0.61940	0.896;0.833	T	0.69228	-0.5200	10	0.48119	T	0.1	.	14.7217	0.69311	1.0:0.0:0.0:0.0	.	899;889	Q8N1T3;F5H3C6	MYO1H_HUMAN;.	G	889;899;80	ENSP00000439182:D889G;ENSP00000444076:D899G	ENSP00000439182:D889G	D	+	2	0	MYO1H	108365727	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	8.857000	0.92250	2.061000	0.61500	0.533000	0.62120	GAC		0.478	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597	
ANKRD13A	88455	broad.mit.edu	37	12	110457028	110457028	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:110457028G>A	ENST00000261739.4	+	6	795	c.629G>A	c.(628-630)cGc>cAc	p.R210H	ANKRD13A_ENST00000550404.1_3'UTR	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	210						endosome (GO:0005768)|plasma membrane (GO:0005886)		p.R210H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						GAAATGGAGCGCCTCACTCTG	0.468																																					p.R210H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G629A	12						.						88.0	89.0	89.0					12																	110457028		2203	4300	6503	108941411	SO:0001583	missense	88455	exon6			AF064604	CCDS9140.1	12q24.12	2013-01-10	2006-06-30	2006-06-30		ENSG00000076513		"""Ankyrin repeat domain containing"""	21268	protein-coding gene	gene with protein product		615123	"""ankyrin repeat domain 13"""	ANKRD13		10508479	Standard	NM_033121		Approved	NY-REN-25	uc001tpx.3	Q8IZ07	OTTHUMG00000169314	ENST00000261739.4:c.629G>A	12.37:g.110457028G>A	ENSP00000261739:p.Arg210His		108941411	NM_033121	O60736	Missense_Mutation	SNP	ENST00000261739.4	37	CCDS9140.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.57|18.57	3.653587|3.653587	0.67472|0.67472	.|.	.|.	ENSG00000076513|ENSG00000076513	ENST00000547639|ENST00000261739	.|T	.|0.44482	.|0.92	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	.|0.147137	.|0.64402	.|D	.|0.000010	T|T	0.40743|0.40743	0.1129|0.1129	L|L	0.48642|0.48642	1.525|1.525	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.27140	.|0.031;0.169;0.031	.|B;B;B	.|0.17722	.|0.019;0.019;0.019	T|T	0.22382|0.22382	-1.0218|-1.0218	5|10	.|0.62326	.|D	.|0.03	-16.0158|-16.0158	19.1015|19.1015	0.93276|0.93276	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|210;210;210	.|B4DYP5;Q3ZTS7;Q8IZ07	.|.;.;AN13A_HUMAN	T|H	64|210	.|ENSP00000261739:R210H	.|ENSP00000261739:R210H	A|R	+|+	1|2	0|0	ANKRD13A|ANKRD13A	108941411|108941411	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	5.118000|5.118000	0.64673|0.64673	2.762000|2.762000	0.94881|0.94881	0.591000|0.591000	0.81541|0.81541	GCC|CGC		0.468	ANKRD13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403430.1	NM_033121	
TAS2R46	259292	broad.mit.edu	37	12	11214260	11214260	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:11214260G>T	ENST00000533467.1	-	1	633	c.634C>A	c.(634-636)Cat>Aat	p.H212N	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	212					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.H212N(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		CCTTTGCCATGGAGCTGCATC	0.423																																					p.H212N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C634A	12						.						180.0	185.0	183.0					12																	11214260		2203	4299	6502	11105527	SO:0001583	missense	259292	exon1			AF494227	CCDS53748.1	12p13.2	2012-08-22				ENSG00000226761		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18877	protein-coding gene	gene with protein product		612774				12379855	Standard	NM_176887		Approved	T2R54	uc001qzp.1	P59540		ENST00000533467.1:c.634C>A	12.37:g.11214260G>T	ENSP00000436450:p.His212Asn		11105527	NM_176887	P59548|Q645X6	Missense_Mutation	SNP	ENST00000533467.1	37	CCDS53748.1	.	.	.	.	.	.	.	.	.	.	G	0.138	-1.105365	0.01828	.	.	ENSG00000226761	ENST00000533467	T	0.00669	5.9	2.54	-1.99	0.07457	.	.	.	.	.	T	0.00637	0.0021	L	0.38531	1.155	0.09310	N	1	B	0.14805	0.011	B	0.18263	0.021	T	0.47045	-0.9147	9	0.18710	T	0.47	.	0.9937	0.01462	0.1835:0.1229:0.1934:0.5001	.	212	P59540	T2R46_HUMAN	N	212	ENSP00000436450:H212N	ENSP00000436450:H212N	H	-	1	0	TAS2R46	11105527	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.554000	0.06006	-0.562000	0.06086	-1.050000	0.02344	CAT		0.423	TAS2R46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383559.1	NM_176887	
ATXN2	6311	broad.mit.edu	37	12	111954039	111954039	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:111954039G>A	ENST00000377617.3	-	10	1935	c.1774C>T	c.(1774-1776)Cca>Tca	p.P592S	ATXN2_ENST00000550104.1_Missense_Mutation_p.P592S|ATXN2_ENST00000389153.4_Missense_Mutation_p.P327S|ATXN2_ENST00000535949.1_Missense_Mutation_p.P303S|ATXN2_ENST00000608853.1_Missense_Mutation_p.P432S|ATXN2_ENST00000542287.2_Missense_Mutation_p.P327S	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	592	Pro-rich.				cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.P592S(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						GGTCTGGATGGCCGCGAGGGG	0.597																																					p.P592S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1774T	12						.						37.0	40.0	39.0					12																	111954039		2203	4300	6503	110438422	SO:0001583	missense	6311	exon10			U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.1774C>T	12.37:g.111954039G>A	ENSP00000366843:p.Pro592Ser		110438422	NM_002973	A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	ENST00000377617.3	37	CCDS31902.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669289	0.47677	.	.	ENSG00000204842	ENST00000389153;ENST00000377617;ENST00000550104;ENST00000542287;ENST00000535949	T;T	0.65364	-0.1;-0.15	5.6	4.71	0.59529	.	0.050445	0.85682	N	0.000000	T	0.66177	0.2763	N	0.24115	0.695	0.80722	D	1	B;B;B;D	0.89917	0.235;0.214;0.096;1.0	B;B;B;D	0.87578	0.043;0.091;0.037;0.998	T	0.64300	-0.6440	10	0.29301	T	0.29	-7.9374	14.1672	0.65486	0.0729:0.0:0.9271:0.0	.	327;592;303;327	B3KT59;Q99700;Q24JQ7;F8VQP2	.;ATX2_HUMAN;.;.	S	327;592;592;327;303	ENSP00000366843:P592S;ENSP00000446576:P592S	ENSP00000366843:P592S	P	-	1	0	ATXN2	110438422	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.258000	0.95555	1.354000	0.45846	-0.140000	0.14226	CCA		0.597	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973	
TAS2R30	259293	broad.mit.edu	37	12	11286020	11286020	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:11286020T>C	ENST00000539585.1	-	1	1223	c.824A>G	c.(823-825)cAc>cGc	p.H275R	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	275					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.H275R(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						GATGAATGGGTGGGTTGAAGG	0.418																																					p.H275R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A824G	12						.						139.0	146.0	144.0					12																	11286020		2109	4257	6366	11177287	SO:0001583	missense	259293	exon1			AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19112	protein-coding gene	gene with protein product		613963	"""taste receptor, type 2, member 47"""	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.824A>G	12.37:g.11286020T>C	ENSP00000444736:p.His275Arg		11177287	NM_001097643	Q645X7	Missense_Mutation	SNP	ENST00000539585.1	37	CCDS53750.1	.	.	.	.	.	.	.	.	.	.	-	12.05	1.821452	0.32237	.	.	ENSG00000256188	ENST00000539585	T	0.03982	3.74	2.7	1.45	0.22620	.	.	.	.	.	T	0.28532	0.0706	H	0.97707	4.06	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.10109	-1.0644	9	0.87932	D	0	.	4.8063	0.13321	0.276:0.0:0.0:0.724	.	275	P59541	T2R30_HUMAN	R	275	ENSP00000444736:H275R	ENSP00000444736:H275R	H	-	2	0	TAS2R30	11177287	0.833000	0.29383	0.002000	0.10522	0.014000	0.08584	2.709000	0.47160	0.236000	0.21180	0.260000	0.18958	CAC		0.418	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400238.1	NM_001097643	
TRAFD1	10906	broad.mit.edu	37	12	112580054	112580054	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:112580054G>A	ENST00000257604.5	+	6	1422	c.805G>A	c.(805-807)Gcc>Acc	p.A269T	TRAFD1_ENST00000412615.2_Missense_Mutation_p.A269T	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	269					negative regulation of innate immune response (GO:0045824)|response to cytokine (GO:0034097)		metal ion binding (GO:0046872)	p.A269T(1)		kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						CGTATGTGAGGCCGACCAGTC	0.507																																					p.A269T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G805A	12						.						102.0	99.0	100.0					12																	112580054		2203	4300	6503	111064437	SO:0001583	missense	10906	exon6			AB007447	CCDS9160.1	12q24.13	2013-01-25			ENSG00000135148	ENSG00000135148			24808	protein-coding gene	gene with protein product		613197				12477932	Standard	NM_006700		Approved	FLN29	uc001ttp.3	O14545	OTTHUMG00000169640	ENST00000257604.5:c.805G>A	12.37:g.112580054G>A	ENSP00000257604:p.Ala269Thr		111064437	NM_006700	A8K5L6|B4DI89	Missense_Mutation	SNP	ENST00000257604.5	37	CCDS9160.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256396	0.80246	.	.	ENSG00000135148	ENST00000412615;ENST00000257604;ENST00000552896;ENST00000548277	T;T;T	0.31247	1.5;1.5;2.2	5.62	3.79	0.43588	.	0.621431	0.15555	N	0.256233	T	0.28928	0.0718	M	0.68317	2.08	0.09310	N	1	P	0.51351	0.944	B	0.41723	0.365	T	0.22382	-1.0218	10	0.39692	T	0.17	-5.7538	5.6999	0.17877	0.173:0.2113:0.6157:0.0	.	269	O14545	TRAD1_HUMAN	T	269;269;269;63	ENSP00000396526:A269T;ENSP00000257604:A269T;ENSP00000450357:A269T	ENSP00000257604:A269T	A	+	1	0	TRAFD1	111064437	0.864000	0.29904	0.643000	0.29450	0.911000	0.54048	1.037000	0.30241	1.377000	0.46286	0.563000	0.77884	GCC		0.507	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405214.1	NM_006700	
RASAL1	8437	broad.mit.edu	37	12	113543528	113543528	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:113543528A>G	ENST00000261729.5	-	17	2133	c.1818T>C	c.(1816-1818)ccT>ccC	p.P606P	RASAL1_ENST00000546530.1_Silent_p.P608P|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Silent_p.P606P|RASAL1_ENST00000548055.1_Silent_p.P607P			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	606	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)	p.P606P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CCTGCCACTCAGGACTCTTGG	0.612																																					p.P606P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1818C	12						.						57.0	61.0	59.0					12																	113543528		2203	4300	6503	112027911	SO:0001819	synonymous_variant	8437	exon17			AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.1818T>C	12.37:g.113543528A>G			112027911	NM_004658	B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Silent	SNP	ENST00000261729.5	37	CCDS9165.1																																																																																				0.612	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658	
DDX54	79039	broad.mit.edu	37	12	113617007	113617007	+	Missense_Mutation	SNP	C	C	T	rs139285972	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:113617007C>T	ENST00000306014.5	-	4	532	c.505G>A	c.(505-507)Gcc>Acc	p.A169T	Y_RNA_ENST00000364338.1_RNA|DDX54_ENST00000314045.7_Missense_Mutation_p.A169T	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	169	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)	p.A169T(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AGGATGAGGGCGCGGGCCCCG	0.657													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18351	0.0		0.0	False		,,,				2504	0.0				p.A169T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G505A	12						.	C	THR/ALA,THR/ALA	8,4398	14.3+/-33.2	0,8,2195	35.0	35.0	35.0		505,505	4.7	0.2	12	dbSNP_134	35	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	DDX54	NM_001111322.1,NM_024072.3	58,58	0,9,6494	TT,TC,CC		0.0116,0.1816,0.0692	probably-damaging,probably-damaging	169/883,169/882	113617007	9,12997	2203	4300	6503	112101390	SO:0001583	missense	79039	exon4			AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"""DEAD-boxes"""	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.505G>A	12.37:g.113617007C>T	ENSP00000304072:p.Ala169Thr		112101390	NM_024072	Q86YT8|Q9BRZ1	Missense_Mutation	SNP	ENST00000306014.5	37	CCDS31907.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	21.0	4.085284	0.76642	0.001816	1.16E-4	ENSG00000123064	ENST00000314045;ENST00000306014;ENST00000552375	T;T;T	0.18960	2.18;2.18;2.18	5.55	4.65	0.58169	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.054027	0.64402	D	0.000001	T	0.34077	0.0885	M	0.72894	2.215	0.80722	D	1	P;P	0.43973	0.788;0.823	B;P	0.47376	0.409;0.545	T	0.19910	-1.0291	10	0.87932	D	0	.	14.3447	0.66651	0.0:0.9271:0.0:0.0729	.	169;169	Q8TDD1-2;Q8TDD1	.;DDX54_HUMAN	T	169;169;86	ENSP00000323858:A169T;ENSP00000304072:A169T;ENSP00000448477:A86T	ENSP00000304072:A169T	A	-	1	0	DDX54	112101390	1.000000	0.71417	0.160000	0.22671	0.814000	0.46013	5.959000	0.70339	1.318000	0.45170	0.462000	0.41574	GCC		0.657	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072	
ERC1	23085	broad.mit.edu	37	12	1299073	1299073	+	Nonsense_Mutation	SNP	C	C	T	rs199764310		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:1299073C>T	ENST00000397203.2	+	12	2612	c.2206C>T	c.(2206-2208)Cga>Tga	p.R736*	ERC1_ENST00000546231.2_Nonsense_Mutation_p.R736*|ERC1_ENST00000355446.5_Nonsense_Mutation_p.R736*|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000589028.1_Nonsense_Mutation_p.R736*|ERC1_ENST00000360905.4_Nonsense_Mutation_p.R736*|ERC1_ENST00000543086.3_Nonsense_Mutation_p.R708*			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	736					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)	p.R736*(1)		NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GATGAGTGACCGAATACAGCA	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		18066	0.0		0.001	False		,,,				2504	0.0				p.R708X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2122T	12						.						106.0	96.0	99.0					12																	1299073		2203	4300	6503	1169334	SO:0001587	stop_gained	23085	exon11			AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.2206C>T	12.37:g.1299073C>T	ENSP00000380386:p.Arg736*		1169334	NM_178039	A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Nonsense_Mutation	SNP	ENST00000397203.2	37	CCDS8508.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	39	7.885512	0.98542	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971;ENST00000536573	.	.	.	5.88	4.03	0.46877	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-9.2693	11.0098	0.47657	0.1299:0.8034:0.0:0.0666	.	.	.	.	X	708;736;708;708;436;708;708;436;736;736;736;708;484;376	.	ENSP00000299183:R436X	R	+	1	2	ERC1	1169334	1.000000	0.71417	0.996000	0.52242	0.815000	0.46073	6.019000	0.70818	0.800000	0.34041	-0.136000	0.14681	CGA		0.478	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064	
TBX5	6910	broad.mit.edu	37	12	114841592	114841592	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:114841592A>G	ENST00000310346.4	-	2	778	c.112T>C	c.(112-114)Tcc>Ccc	p.S38P	TBX5_ENST00000526441.1_Missense_Mutation_p.S38P|TBX5_ENST00000349716.5_Intron|TBX5_ENST00000405440.2_Missense_Mutation_p.S38P|TBX5_ENST00000552726.1_5'UTR	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	38				GFGLAHTPLEPDAKDLPCDSKPESALGAPSKSPSSPQAAFT QQ -> ALAGAHLWSLTQKTCLRFEPRARSGPPASPPGRPR SRLHPA (in Ref. 1; CAA70592). {ECO:0000305}.	apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.S38P(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GACGACGGGGACTTGCTGGGG	0.647																																					p.S38P	NSCLC(152;1358 1980 4050 23898 40356)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T112C	12						.						38.0	49.0	45.0					12																	114841592		2203	4300	6503	113325975	SO:0001583	missense	6910	exon2			U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.112T>C	12.37:g.114841592A>G	ENSP00000309913:p.Ser38Pro		113325975	NM_000192	A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	A	14.42	2.530610	0.45073	.	.	ENSG00000089225	ENST00000310346;ENST00000405440;ENST00000526441	D;D;D	0.88354	-2.37;-2.37;-2.31	5.41	2.85	0.33270	.	0.874480	0.09890	N	0.742527	T	0.76378	0.3979	N	0.17082	0.46	0.38198	D	0.940093	B;B	0.06786	0.0;0.001	B;B	0.09377	0.002;0.004	T	0.66854	-0.5818	10	0.19590	T	0.45	.	2.9093	0.05732	0.5542:0.1729:0.0733:0.1997	.	38;38	Q99593-2;Q99593	.;TBX5_HUMAN	P	38	ENSP00000309913:S38P;ENSP00000384152:S38P;ENSP00000433292:S38P	ENSP00000309913:S38P	S	-	1	0	TBX5	113325975	1.000000	0.71417	0.987000	0.45799	0.881000	0.50899	1.558000	0.36309	0.856000	0.35383	0.533000	0.62120	TCC		0.647	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717	
TAOK3	51347	broad.mit.edu	37	12	118599787	118599787	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:118599787G>A	ENST00000392533.3	-	18	2435	c.1945C>T	c.(1945-1947)Cta>Tta	p.L649L	TAOK3_ENST00000537952.1_Silent_p.L189L|TAOK3_ENST00000419821.2_Silent_p.L649L|TAOK3_ENST00000543709.1_5'Flank	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	649					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)	p.L649L(1)		central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGCCGGATTAGCATGGCATGC	0.507																																					p.L649L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1945T	12						.						195.0	160.0	172.0					12																	118599787		2203	4300	6503	117084170	SO:0001819	synonymous_variant	51347	exon18			AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.1945C>T	12.37:g.118599787G>A			117084170	NM_016281	Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Silent	SNP	ENST00000392533.3	37	CCDS9188.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.284480	0.23392	.	.	ENSG00000135090	ENST00000359811	.	.	.	5.55	4.66	0.58398	.	.	.	.	.	T	0.73125	0.3547	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.75932	-0.3143	5	0.56958	D	0.05	.	13.982	0.64310	0.0727:0.0:0.9273:0.0	.	.	.	.	V	268	.	ENSP00000352863:A268V	A	-	2	0	TAOK3	117084170	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.595000	0.61048	1.591000	0.50007	0.655000	0.94253	GCT		0.507	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281	
CCDC64	92558	broad.mit.edu	37	12	120436484	120436484	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:120436484C>T	ENST00000397558.2	+	2	589	c.589C>T	c.(589-591)Cgg>Tgg	p.R197W		NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	197					Golgi to secretory granule transport (GO:0055107)|neuron projection development (GO:0031175)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	dynactin binding (GO:0034452)|Rab GTPase binding (GO:0017137)	p.R197W(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGAAAAATCACGGGCTGTCCA	0.468																																					p.R197W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C589T	12						.						63.0	69.0	67.0					12																	120436484		1967	4154	6121	118920867	SO:0001583	missense	92558	exon2			U88834, AK129960	CCDS41845.1	12q24.23	2006-01-24				ENSG00000135127			28095	protein-coding gene	gene with protein product							Standard	NM_207311		Approved	FLJ26450	uc001txl.1	Q6ZP65	OTTHUMG00000169311	ENST00000397558.2:c.589C>T	12.37:g.120436484C>T	ENSP00000380690:p.Arg197Trp		118920867	NM_207311	A8MUC8|B4DWL0|B5MDJ0|O95000	Missense_Mutation	SNP	ENST00000397558.2	37	CCDS41845.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.649367	0.67358	.	.	ENSG00000135127	ENST00000357093;ENST00000397558	T	0.05717	3.4	4.77	3.88	0.44766	.	0.241872	0.33253	N	0.005103	T	0.15003	0.0362	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	P	0.62298	0.9	T	0.00829	-1.1549	10	0.52906	T	0.07	-17.3262	6.74	0.23431	0.1434:0.7035:0.0:0.1532	.	197	Q6ZP65	BICR1_HUMAN	W	178;197	ENSP00000380690:R197W	ENSP00000349605:R178W	R	+	1	2	CCDC64	118920867	0.994000	0.37717	0.993000	0.49108	0.991000	0.79684	3.049000	0.49869	1.321000	0.45227	0.455000	0.32223	CGG		0.468	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403390.2	NM_207311	
HNF1A	6927	broad.mit.edu	37	12	121437180	121437180	+	Silent	SNP	G	G	A	rs199511735		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:121437180G>A	ENST00000257555.6	+	8	1837	c.1611G>A	c.(1609-1611)acG>acA	p.T537T	RP11-216P16.2_ENST00000606238.1_RNA|HNF1A_ENST00000541395.1_Silent_p.T537T|HNF1A_ENST00000544413.1_Silent_p.T537T			P20823	HNF1A_HUMAN	HNF1 homeobox A	537			T -> R (in MODY3; incomplete penetrance). {ECO:0000269|PubMed:9626139}.		glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.T537T(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCAGCCTCACGCCCACCAAGC	0.682									Hepatic Adenoma, Familial Clustering of				.|||	1	0.000199681	0.0008	0.0	5008	,	,		15552	0.0		0.0	False		,,,				2504	0.0				p.T537T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1611A	12	GRCh37	CD083317	HNF1A	D		.						80.0	82.0	81.0					12																	121437180		2203	4299	6502	119921563	SO:0001819	synonymous_variant	6927	exon8	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"""Homeoboxes / HNF class"""	11621	protein-coding gene	gene with protein product		142410	"""transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"""	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.1611G>A	12.37:g.121437180G>A			119921563	NM_000545	A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Silent	SNP	ENST00000257555.6	37	CCDS9209.1																																																																																				0.682	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	NM_000545	
KDM2B	84678	broad.mit.edu	37	12	121947649	121947649	+	Silent	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:121947649G>T	ENST00000377071.4	-	11	1440	c.1368C>A	c.(1366-1368)gcC>gcA	p.A456A	KDM2B_ENST00000377069.4_Silent_p.A425A|KDM2B_ENST00000536437.1_Silent_p.A339A|KDM2B_ENST00000542973.1_5'Flank|KDM2B_ENST00000538046.2_Silent_p.A366A	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	456					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)	p.A95A(1)|p.A456A(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TCTTCCCGAGGGCCTCCTGGT	0.602																																					p.A456A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1368A	12						.						73.0	85.0	81.0					12																	121947649		2057	4177	6234	120432032	SO:0001819	synonymous_variant	84678	exon11			AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.1368C>A	12.37:g.121947649G>T			120432032	NM_032590	A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Silent	SNP	ENST00000377071.4	37	CCDS41850.1																																																																																				0.602	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590	
CCDC62	84660	broad.mit.edu	37	12	123286212	123286212	+	Missense_Mutation	SNP	G	G	A	rs569908909		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:123286212G>A	ENST00000253079.6	+	9	1863	c.1519G>A	c.(1519-1521)Gaa>Aaa	p.E507K	CCDC62_ENST00000537566.1_Missense_Mutation_p.E268K|CCDC62_ENST00000392440.2_Missense_Mutation_p.E268K|CCDC62_ENST00000392441.4_Missense_Mutation_p.E507K	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	507					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.E507K(1)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		CTGTCTGGGCGAAAGTGGCAT	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		21073	0.001		0.0	False		,,,				2504	0.0				p.E507K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1519A	12						.						81.0	81.0	81.0					12																	123286212		2203	4300	6503	121852165	SO:0001583	missense	84660	exon9				CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"""cancer/testis antigen 109"""	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.1519G>A	12.37:g.123286212G>A	ENSP00000253079:p.Glu507Lys		121852165	NM_201435	A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Missense_Mutation	SNP	ENST00000253079.6	37	CCDS9238.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.396664	0.62177	.	.	ENSG00000130783	ENST00000253079;ENST00000392441;ENST00000537566;ENST00000392440	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.44	4.55	0.56014	.	0.823680	0.10653	N	0.649625	T	0.53158	0.1779	L	0.50333	1.59	0.09310	N	1	B;B;B	0.33494	0.414;0.366;0.007	B;B;B	0.20767	0.031;0.016;0.002	T	0.45906	-0.9229	10	0.49607	T	0.09	-4.6736	10.4307	0.44407	0.0906:0.0:0.9094:0.0	.	507;268;507	Q6P9F0-2;Q6P9F0-3;Q6P9F0	.;.;CCD62_HUMAN	K	507;507;268;268	ENSP00000253079:E507K;ENSP00000376236:E507K;ENSP00000445045:E268K;ENSP00000376235:E268K	ENSP00000253079:E507K	E	+	1	0	CCDC62	121852165	0.139000	0.22563	0.007000	0.13788	0.514000	0.34195	1.776000	0.38594	1.316000	0.45131	-0.194000	0.12790	GAA		0.473	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400930.1	NM_032573	
PITPNM2	57605	broad.mit.edu	37	12	123498509	123498509	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:123498509G>A	ENST00000542749.1	-	2	222	c.159C>T	c.(157-159)ggC>ggT	p.G53G	RN7SL133P_ENST00000585256.1_RNA|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000280562.5_Silent_p.G53G|PITPNM2_ENST00000546049.1_Silent_p.G53G|PITPNM2_ENST00000320201.4_Silent_p.G53G|PITPNM2_ENST00000392428.1_Intron			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	53					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)	p.G53G(1)		NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GCCCAGAGCCGCCTGGGCCAT	0.607																																					p.G53G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C159T	12						.						137.0	115.0	123.0					12																	123498509		2203	4300	6503	122064462	SO:0001819	synonymous_variant	57605	exon3			AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.159C>T	12.37:g.123498509G>A			122064462	NM_020845	Q9P271	Silent	SNP	ENST00000542749.1	37	CCDS9242.1																																																																																				0.607	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845	
TCTN2	79867	broad.mit.edu	37	12	124156103	124156103	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:124156103C>T	ENST00000303372.5	+	2	260	c.132C>T	c.(130-132)tcC>tcT	p.S44S	TCTN2_ENST00000426174.2_Silent_p.S44S	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	44					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)		p.S44S(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TCAGCGCGTCCCTGGTCGGAG	0.622																																					p.S44S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C132T	12						.						78.0	74.0	76.0					12																	124156103		2203	4300	6503	122722056	SO:0001819	synonymous_variant	79867	exon2			AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"""Tectonic proteins"""	25774	protein-coding gene	gene with protein product	"""Meckel syndrome, type 8"""	613846	"""chromosome 12 open reading frame 38"""	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.132C>T	12.37:g.124156103C>T			122722056	NM_024809	A8K7Y8|B3KPW5|Q9H966	Silent	SNP	ENST00000303372.5	37	CCDS9253.1																																																																																				0.622	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400652.1	NM_024809	
TMEM132B	114795	broad.mit.edu	37	12	126135464	126135464	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:126135464C>G	ENST00000299308.3	+	7	1872	c.1864C>G	c.(1864-1866)Ctg>Gtg	p.L622V	TMEM132B_ENST00000535886.1_Missense_Mutation_p.L134V	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	622						integral component of membrane (GO:0016021)		p.L622V(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CGGCAGGACCCTGGCTGGTCG	0.587																																					p.L622V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1864G	12						.						50.0	56.0	54.0					12																	126135464		2088	4214	6302	124701417	SO:0001583	missense	114795	exon7			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1864C>G	12.37:g.126135464C>G	ENSP00000299308:p.Leu622Val		124701417	NM_052907	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843010	0.71488	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.22539	1.95;1.95	5.14	4.25	0.50352	.	0.280019	0.25596	N	0.029588	T	0.38612	0.1047	L	0.52823	1.66	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.07271	-1.0781	10	0.21014	T	0.42	.	13.5839	0.61919	0.0:0.9248:0.0:0.0752	.	622	Q14DG7	T132B_HUMAN	V	622;134	ENSP00000299308:L622V;ENSP00000440436:L134V	ENSP00000299308:L622V	L	+	1	2	TMEM132B	124701417	1.000000	0.71417	0.994000	0.49952	0.953000	0.61014	4.696000	0.61774	1.139000	0.42245	0.650000	0.86243	CTG		0.587	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907	
TMEM132D	121256	broad.mit.edu	37	12	129694115	129694115	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:129694115C>T	ENST00000422113.2	-	5	1719	c.1393G>A	c.(1393-1395)Gag>Aag	p.E465K	RP11-669N7.3_ENST00000542578.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	465					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.E465K(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCCAGCAGCTCTGTCACTGTG	0.572																																					p.E465K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1393A	12						.						111.0	88.0	96.0					12																	129694115		2203	4300	6503	128260068	SO:0001583	missense	121256	exon5			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1393G>A	12.37:g.129694115C>T	ENSP00000408581:p.Glu465Lys		128260068	NM_133448	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.841439	0.51057	.	.	ENSG00000151952	ENST00000422113	T	0.17213	2.29	5.3	5.3	0.74995	.	0.591368	0.16172	N	0.226230	T	0.14614	0.0353	L	0.29908	0.895	0.47949	D	0.999554	B	0.30973	0.302	B	0.24394	0.053	T	0.12167	-1.0558	9	.	.	.	-4.0556	18.9736	0.92725	0.0:1.0:0.0:0.0	.	465	Q14C87	T132D_HUMAN	K	465	ENSP00000408581:E465K	.	E	-	1	0	TMEM132D	128260068	1.000000	0.71417	0.008000	0.14137	0.003000	0.03518	7.294000	0.78760	2.446000	0.82766	0.655000	0.94253	GAG		0.572	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448	
RIMBP2	23504	broad.mit.edu	37	12	130927022	130927022	+	Missense_Mutation	SNP	G	G	A	rs142639224	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:130927022G>A	ENST00000261655.4	-	8	987	c.824C>T	c.(823-825)gCg>gTg	p.A275V	RIMBP2_ENST00000536002.1_Missense_Mutation_p.A183V|RIMBP2_ENST00000535703.1_Missense_Mutation_p.A183V	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	275					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.A275V(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGTGATGCCCGCATCTATGTG	0.557													G|||	2	0.000399361	0.0	0.0014	5008	,	,		20071	0.001		0.0	False		,,,				2504	0.0				p.A275V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C824T	12						.						220.0	187.0	198.0					12																	130927022		2203	4300	6503	129492975	SO:0001583	missense	23504	exon8			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.824C>T	12.37:g.130927022G>A	ENSP00000261655:p.Ala275Val		129492975	NM_015347	Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	CCDS31925.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.962	-0.702851	0.03255	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.20200	2.09;2.95;2.95	4.1	3.21	0.36854	.	0.507224	0.19752	N	0.106871	T	0.10078	0.0247	N	0.14661	0.345	0.09310	N	1	B;B	0.29188	0.236;0.006	B;B	0.20577	0.03;0.002	T	0.28713	-1.0035	10	0.22109	T	0.4	-0.5159	8.1466	0.31115	0.1855:0.0:0.8145:0.0	.	183;275	O15034-2;O15034	.;RIMB2_HUMAN	V	275;183;183;183	ENSP00000261655:A275V;ENSP00000440347:A183V;ENSP00000439159:A183V	ENSP00000261655:A275V	A	-	2	0	RIMBP2	129492975	0.011000	0.17503	0.001000	0.08648	0.011000	0.07611	1.532000	0.36029	0.705000	0.31890	0.491000	0.48974	GCG		0.557	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347	
GPR133	283383	broad.mit.edu	37	12	131439178	131439178	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:131439178G>A	ENST00000261654.5	+	2	635	c.76G>A	c.(76-78)Gtc>Atc	p.V26I	GPR133_ENST00000535015.1_Missense_Mutation_p.V26I	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	26					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V26I(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GGTGCGTGGCGTCTACTCCAG	0.572																																					p.V26I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G76A	12						.						115.0	99.0	104.0					12																	131439178		2203	4300	6503	130005131	SO:0001583	missense	283383	exon2			AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.76G>A	12.37:g.131439178G>A	ENSP00000261654:p.Val26Ile		130005131	NM_198827	B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	G	7.174	0.588209	0.13812	.	.	ENSG00000111452	ENST00000261654;ENST00000543826;ENST00000542091;ENST00000535015	T;T	0.40225	1.05;1.04	4.42	2.17	0.27698	.	1.331920	0.05033	N	0.475014	T	0.30324	0.0761	L	0.36672	1.1	0.09310	N	1	B;B	0.27853	0.191;0.117	B;B	0.15052	0.012;0.012	T	0.20672	-1.0268	10	0.35671	T	0.21	.	3.9824	0.09501	0.4769:0.0:0.5231:0.0	.	26;26	B7ZLF7;Q6QNK2	.;GP133_HUMAN	I	26	ENSP00000261654:V26I;ENSP00000444425:V26I	ENSP00000261654:V26I	V	+	1	0	GPR133	130005131	0.011000	0.17503	0.001000	0.08648	0.004000	0.04260	2.025000	0.41059	0.825000	0.34637	0.561000	0.74099	GTC		0.572	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827	
EP400	57634	broad.mit.edu	37	12	132554105	132554105	+	Silent	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:132554105C>A	ENST00000333577.4	+	52	9157	c.9048C>A	c.(9046-9048)gcC>gcA	p.A3016A	EP400_ENST00000332482.4_Silent_p.A2943A|EP400_ENST00000389562.2_Silent_p.A2979A|EP400_ENST00000389561.2_Silent_p.A2980A|EP400_ENST00000330386.6_Silent_p.A2899A			Q96L91	EP400_HUMAN	E1A binding protein p400	3016					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.A2979A(1)		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)		CGCAGCCGGCCCTTAAGACCC	0.637																																					p.A2979A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C8937A	12						.						67.0	69.0	68.0					12																	132554105		2203	4300	6503	131120058	SO:0001819	synonymous_variant	57634	exon51			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.9048C>A	12.37:g.132554105C>A			131120058	NM_015409	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37																																																																																					0.637	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409	
KDM5A	5927	broad.mit.edu	37	12	416784	416784	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:416784A>G	ENST00000399788.2	-	23	4128	c.3766T>C	c.(3766-3768)Tgg>Cgg	p.W1256R	KDM5A_ENST00000382815.4_Missense_Mutation_p.W1256R	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1256					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.W1256R(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CTATCTTGCCAACTCATAGCA	0.547			T	NUP98	AML																																p.W1256R			Dom	yes		12	12p11	5927	"""lysine (K)-specific demethylase 5A, JARID1A"""		L	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T3766C	12						.						87.0	86.0	87.0					12																	416784		1988	4166	6154	287045	SO:0001583	missense	5927	exon23				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.3766T>C	12.37:g.416784A>G	ENSP00000382688:p.Trp1256Arg		287045	NM_001042603	A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.276552	0.80580	.	.	ENSG00000073614	ENST00000399788;ENST00000382815	T;T	0.01178	5.22;5.22	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.06781	0.0173	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.02950	-1.1090	10	0.87932	D	0	-10.4892	16.1762	0.81855	1.0:0.0:0.0:0.0	.	1256;1256	P29375;P29375-2	KDM5A_HUMAN;.	R	1256	ENSP00000382688:W1256R;ENSP00000372265:W1256R	ENSP00000372265:W1256R	W	-	1	0	KDM5A	287045	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.230000	0.95299	2.283000	0.76528	0.477000	0.44152	TGG		0.547	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056	
CCDC77	84318	broad.mit.edu	37	12	541060	541060	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:541060G>A	ENST00000239830.4	+	8	791	c.612G>A	c.(610-612)tcG>tcA	p.S204S	CCDC77_ENST00000412006.2_Silent_p.S172S|CCDC77_ENST00000540180.1_Silent_p.S172S|CCDC77_ENST00000540344.1_3'UTR|CCDC77_ENST00000422000.1_Silent_p.S172S	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	204						centrosome (GO:0005813)|membrane (GO:0016020)		p.S204S(1)		cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			GAAGACCATCGAGAGAGAGAA	0.343																																					p.S172S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G516A	12						.						95.0	86.0	89.0					12																	541060		2203	4300	6503	411321	SO:0001819	synonymous_variant	84318	exon6			AK027638	CCDS8503.1, CCDS44781.1	12p13.33	2006-02-16			ENSG00000120647	ENSG00000120647			28203	protein-coding gene	gene with protein product						12477932	Standard	NM_001130148		Approved	MGC13183	uc001qig.3	Q9BR77	OTTHUMG00000129214	ENST00000239830.4:c.612G>A	12.37:g.541060G>A			411321	NM_001130148	B4DDE8	Silent	SNP	ENST00000239830.4	37	CCDS8503.1																																																																																				0.343	CCDC77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251296.1	NM_032358	
ERC1	23085	broad.mit.edu	37	12	1481035	1481035	+	Silent	SNP	C	C	T	rs367850326		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:1481035C>T	ENST00000397203.2	+	16	3223	c.2817C>T	c.(2815-2817)gaC>gaT	p.D939D	ERC1_ENST00000546231.2_Silent_p.D943D|ERC1_ENST00000355446.5_Silent_p.D939D|ERC1_ENST00000589028.1_Silent_p.D939D|ERC1_ENST00000360905.4_Silent_p.D939D|ERC1_ENST00000543086.3_Silent_p.D911D			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	939					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GTGAAAAAGACGCCAATATAG	0.483																																					p.D911D												.	.	0			c.C2733T	12						.	C	,	0,4406		0,0,2203	62.0	57.0	59.0		2733,2817	1.9	1.0	12		59	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ERC1	NM_178039.2,NM_178040.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	911/1089,939/1117	1481035	1,13005	2203	4300	6503	1351296	SO:0001819	synonymous_variant	23085	exon15			AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.2817C>T	12.37:g.1481035C>T			1351296	NM_178039	A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Silent	SNP	ENST00000397203.2	37	CCDS8508.1																																																																																				0.483	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064	
FOXM1	2305	broad.mit.edu	37	12	2968379	2968379	+	Missense_Mutation	SNP	C	C	T	rs375821639		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:2968379C>T	ENST00000359843.3	-	9	1785	c.1717G>A	c.(1717-1719)Gca>Aca	p.A573T	FOXM1_ENST00000342628.2_Missense_Mutation_p.A611T|FOXM1_ENST00000361953.3_Missense_Mutation_p.A558T|Y_RNA_ENST00000410561.1_RNA|ITFG2_ENST00000545509.1_Intron|AC005841.1_ENST00000382678.3_5'Flank	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	573					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.A611T(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GGGAGCTCTGCGGCCCAGCGG	0.602																																					p.A558T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1672A	12						.						36.0	39.0	38.0					12																	2968379		2201	4299	6500	2838640	SO:0001583	missense	2305	exon8			Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	3818	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.1717G>A	12.37:g.2968379C>T	ENSP00000352901:p.Ala573Thr		2838640	NM_202003	O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Missense_Mutation	SNP	ENST00000359843.3	37	CCDS8515.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.749256	0.00086	.	.	ENSG00000111206	ENST00000342628;ENST00000361953;ENST00000359843	D;D;D	0.92752	-3.02;-3.1;-3.02	4.13	-8.25	0.01025	.	1.375530	0.04701	N	0.415781	T	0.75162	0.3812	N	0.01048	-1.04	0.09310	N	1	B;B;B;B;B	0.14805	0.002;0.002;0.003;0.002;0.011	B;B;B;B;B	0.13407	0.002;0.003;0.006;0.003;0.009	T	0.70425	-0.4875	10	0.14656	T	0.56	.	13.0111	0.58731	0.0:0.445:0.4347:0.1203	.	557;573;558;573;611	A8K591;Q53Y49;Q08050-2;Q08050;Q08050-3	.;.;.;FOXM1_HUMAN;.	T	611;558;573	ENSP00000342307:A611T;ENSP00000354492:A558T;ENSP00000352901:A573T	ENSP00000342307:A611T	A	-	1	0	FOXM1	2838640	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.922000	0.00334	-4.377000	0.00053	-1.069000	0.02264	GCA		0.602	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953	
DYRK4	8798	broad.mit.edu	37	12	4700454	4700454	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:4700454G>A	ENST00000540757.2	+	3	268	c.108G>A	c.(106-108)ctG>ctA	p.L36L	DYRK4_ENST00000010132.5_Silent_p.L36L|DYRK4_ENST00000543431.1_Silent_p.L36L	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	36						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.L438L(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			AGGTGACTCTGACAGCGGCAG	0.537																																					p.L36L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G108A	12						.						76.0	68.0	71.0					12																	4700454		2203	4300	6503	4570715	SO:0001819	synonymous_variant	8798	exon3			Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.108G>A	12.37:g.4700454G>A			4570715	NM_003845	A8K8F7|Q8NEF2|Q92631	Silent	SNP	ENST00000540757.2	37	CCDS8530.1																																																																																				0.537	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2		
VWF	7450	broad.mit.edu	37	12	6184706	6184706	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:6184706C>A	ENST00000261405.5	-	7	923	c.669G>T	c.(667-669)gaG>gaT	p.E223D		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	223	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.E223D(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCTGGCACTGCTCCCACAGGC	0.602																																					p.E223D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G669T	12						.						33.0	33.0	33.0					12																	6184706		2203	4299	6502	6054967	SO:0001583	missense	7450	exon7				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.669G>T	12.37:g.6184706C>A	ENSP00000261405:p.Glu223Asp		6054967	NM_000552	Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236583	0.58886	.	.	ENSG00000110799	ENST00000261405	T	0.76578	-1.03	4.71	1.56	0.23342	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	0.173378	0.27424	N	0.019436	T	0.77452	0.4132	L	0.55743	1.74	0.80722	D	1	B;P	0.39443	0.437;0.674	B;P	0.54759	0.326;0.76	T	0.72268	-0.4343	10	0.35671	T	0.21	.	2.7723	0.05338	0.443:0.3554:0.0:0.2016	.	223;223	B4DNX0;P04275	.;VWF_HUMAN	D	223	ENSP00000261405:E223D	ENSP00000261405:E223D	E	-	3	2	VWF	6054967	0.830000	0.29337	1.000000	0.80357	0.985000	0.73830	0.959000	0.29240	1.054000	0.40438	0.561000	0.74099	GAG		0.602	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	
SCNN1A	6337	broad.mit.edu	37	12	6463634	6463634	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:6463634A>G	ENST00000228916.2	-	8	1428	c.1330T>C	c.(1330-1332)Tac>Cac	p.Y444H	SCNN1A_ENST00000396966.2_Missense_Mutation_p.Y444H|SCNN1A_ENST00000538979.1_5'UTR|SCNN1A_ENST00000358945.3_Missense_Mutation_p.Y444H|SCNN1A_ENST00000360168.3_Missense_Mutation_p.Y503H|SCNN1A_ENST00000543768.1_Missense_Mutation_p.Y467H|SCNN1A_ENST00000540037.1_Missense_Mutation_p.Y144H	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	444					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)	p.Y444H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	TAGTCACAGTACTCCACGTTC	0.567																																					p.Y503H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1507C	12						.						72.0	70.0	70.0					12																	6463634		2203	4300	6503	6333895	SO:0001583	missense	6337	exon7			Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10599	protein-coding gene	gene with protein product		600228	"""sodium channel, nonvoltage-gated 1 alpha"", ""sodium channel, non-voltage-gated 1 alpha"""	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.1330T>C	12.37:g.6463634A>G	ENSP00000228916:p.Tyr444His		6333895	NM_001159576	A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Missense_Mutation	SNP	ENST00000228916.2	37	CCDS8543.1	.	.	.	.	.	.	.	.	.	.	A	16.62	3.173476	0.57584	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000540037;ENST00000228916;ENST00000396966;ENST00000543768	T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	4.95	4.95	0.65309	.	0.629871	0.15044	N	0.283717	T	0.68650	0.3024	L	0.33668	1.02	0.27573	N	0.949832	D;D;P	0.63880	0.993;0.992;0.694	D;P;B	0.66196	0.942;0.879;0.328	T	0.62784	-0.6781	10	0.87932	D	0	-17.4481	12.5515	0.56229	1.0:0.0:0.0:0.0	.	467;444;503	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	H	503;444;144;444;444;467	ENSP00000353292:Y503H;ENSP00000351825:Y444H;ENSP00000440876:Y144H;ENSP00000228916:Y444H;ENSP00000380166:Y444H;ENSP00000438739:Y467H	ENSP00000228916:Y444H	Y	-	1	0	SCNN1A	6333895	1.000000	0.71417	0.892000	0.35008	0.320000	0.28249	6.826000	0.75298	1.867000	0.54127	0.402000	0.26972	TAC		0.567	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1		
CHD4	1108	broad.mit.edu	37	12	6700632	6700632	+	Splice_Site	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:6700632C>T	ENST00000357008.2	-	22	3503	c.3340G>A	c.(3340-3342)Gca>Aca	p.A1114T	CHD4_ENST00000544040.1_Splice_Site_p.A1107T|CHD4_ENST00000544484.1_Splice_Site_p.A1111T|CHD4_ENST00000309577.6_Splice_Site_p.A1114T	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1114	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.A1114T(2)		central_nervous_system(2)	2						TCTCTCTCACCATTGAAGCGG	0.433																																					p.A1114T	Colon(32;586 792 4568 16848 45314)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3340A	12						.						138.0	118.0	125.0					12																	6700632		2203	4300	6503	6570893	SO:0001630	splice_region_variant	1108	exon22			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.3340+1G>A	12.37:g.6700632C>T			6570893	NM_001273	Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157115	0.78114	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.91521	-2.86;-2.86;-2.86;-2.86	5.15	5.15	0.70609	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.93003	0.7773	L	0.37507	1.11	0.80722	D	1	B;B;D	0.67145	0.014;0.033;0.996	B;B;D	0.73708	0.016;0.078;0.981	D	0.93980	0.7257	10	0.87932	D	0	.	18.6317	0.91361	0.0:1.0:0.0:0.0	.	1114;1114;1107	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	T	1111;1107;1114;1114;1088	ENSP00000440392:A1111T;ENSP00000440542:A1107T;ENSP00000312419:A1114T;ENSP00000349508:A1114T	ENSP00000312419:A1114T	A	-	1	0	CHD4	6570893	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.636000	0.83301	2.409000	0.81822	0.655000	0.94253	GCA		0.433	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273	Missense_Mutation
CHD4	1108	broad.mit.edu	37	12	6702753	6702753	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:6702753G>A	ENST00000357008.2	-	16	2506	c.2343C>T	c.(2341-2343)agC>agT	p.S781S	CHD4_ENST00000544040.1_Silent_p.S774S|CHD4_ENST00000544484.1_Silent_p.S778S|CHD4_ENST00000309577.6_Silent_p.S781S	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	781	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.S781S(2)		central_nervous_system(2)	2						AAAGAGGGGCGCTCACTAGGA	0.552																																					p.S781S	Colon(32;586 792 4568 16848 45314)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2343T	12						.						73.0	74.0	74.0					12																	6702753		2203	4300	6503	6573014	SO:0001819	synonymous_variant	1108	exon16			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.2343C>T	12.37:g.6702753G>A			6573014	NM_001273	Q8IXZ5	Silent	SNP	ENST00000357008.2	37	CCDS8552.1																																																																																				0.552	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273	
PTMS	5763	broad.mit.edu	37	12	6879342	6879342	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:6879342G>T	ENST00000309083.6	+	4	545	c.216G>T	c.(214-216)gaG>gaT	p.E72D	PTMS_ENST00000389462.4_Missense_Mutation_p.R98M|MLF2_ENST00000539187.1_5'Flank|PTMS_ENST00000538057.1_3'UTR|LAG3_ENST00000203629.2_5'Flank|LAG3_ENST00000441671.2_5'Flank	NM_002824.4	NP_002815.3	P20962	PTMS_HUMAN	parathymosin	72	Asp/Glu-rich (acidic).				DNA replication (GO:0006260)|immune system process (GO:0002376)	nucleus (GO:0005634)		p.E72D(1)		endometrium(2)|large_intestine(2)|liver(1)	5						AAGAAGAAGAGGATGATGAAG	0.637																																					p.E72D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G216T	12						.						41.0	38.0	39.0					12																	6879342		2203	4300	6503	6749603	SO:0001583	missense	5763	exon4				CCDS8560.1	12p13	2008-07-10				ENSG00000159335			9629	protein-coding gene	gene with protein product		168440				15716277	Standard	NM_002824		Approved	ParaT	uc001qqq.3	P20962		ENST00000309083.6:c.216G>T	12.37:g.6879342G>T	ENSP00000310088:p.Glu72Asp		6749603	NM_002824		Missense_Mutation	SNP	ENST00000309083.6	37	CCDS8560.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.931|6.931	0.541438|0.541438	0.13250|0.13250	.|.	.|.	ENSG00000159335|ENSG00000159335	ENST00000309083;ENST00000436860|ENST00000389462	.|.	.|.	.|.	3.32|3.32	1.01|1.01	0.19927|0.19927	.|.	0.368048|.	0.19449|.	N|.	0.113989|.	T|T	0.27134|0.27134	0.0665|0.0665	N|N	0.11724|0.11724	0.165|0.165	0.29689|0.29689	N|N	0.84106|0.84106	B|.	0.02656|.	0.0|.	B|.	0.06405|.	0.002|.	T|T	0.32322|0.32322	-0.9911|-0.9911	9|6	0.87932|0.87932	D|D	0|0	-7.3257|-7.3257	7.4218|7.4218	0.27075|0.27075	0.0:0.0:0.4119:0.5881|0.0:0.0:0.4119:0.5881	.|.	72|.	P20962|.	PTMS_HUMAN|.	D|M	72;71|98	.|.	ENSP00000310088:E72D|ENSP00000374113:R98M	E|R	+|+	3|2	2|0	PTMS|PTMS	6749603|6749603	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	1.092000|1.092000	0.30927|0.30927	0.623000|0.623000	0.30267|0.30267	0.298000|0.298000	0.19748|0.19748	GAG|AGG		0.637	PTMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402841.1		
C1R	715	broad.mit.edu	37	12	7188559	7188559	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:7188559G>A	ENST00000542285.1	-	11	1388	c.1239C>T	c.(1237-1239)atC>atT	p.I413I				P00736	C1R_HUMAN	complement component 1, r subcomponent	465	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.I428I(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TTTGCCCTCCGATGATGCGCT	0.627																																					p.I363I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1089T	12						.						17.0	18.0	18.0					12																	7188559		2141	4267	6408	7058814	SO:0001819	synonymous_variant	715	exon8			M14058		12p13.31	2014-05-14			ENSG00000159403	ENSG00000159403	3.4.21.41	"""Complement system"""	1246	protein-coding gene	gene with protein product		613785					Standard	NM_001733		Approved		uc010sfy.2	P00736	OTTHUMG00000168149	ENST00000542285.1:c.1239C>T	12.37:g.7188559G>A			7058814	NM_001733	A6NJQ8|Q68D77|Q8J012	Silent	SNP	ENST00000542285.1	37																																																																																					0.627	C1R-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001733	
CLSTN3	9746	broad.mit.edu	37	12	7286217	7286217	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:7286217C>T	ENST00000266546.6	+	3	686	c.236C>T	c.(235-237)gCt>gTt	p.A79V	RP11-273B20.1_ENST00000538062.1_RNA|CLSTN3_ENST00000537408.1_Missense_Mutation_p.A91V	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	79	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.A79V(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CCCTTTGAGGCTGTGATCCTT	0.622																																					p.A79V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C236T	12						.						73.0	67.0	69.0					12																	7286217		2203	4300	6503	7177484	SO:0001583	missense	9746	exon3			AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.236C>T	12.37:g.7286217C>T	ENSP00000266546:p.Ala79Val		7177484	NM_014718	D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	37	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.976528	0.92982	.	.	ENSG00000139182	ENST00000541953;ENST00000266546;ENST00000545663;ENST00000535452;ENST00000534830;ENST00000539982;ENST00000537408	T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74	4.81	4.81	0.61882	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.58836	0.2150	L	0.37850	1.14	0.80722	D	1	D;D	0.89917	0.993;1.0	D;D	0.75020	0.978;0.985	T	0.55471	-0.8136	10	0.30078	T	0.28	-10.6099	17.8816	0.88842	0.0:1.0:0.0:0.0	.	91;79	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	V	79;79;42;42;42;62;91	ENSP00000443959:A79V;ENSP00000266546:A79V;ENSP00000442612:A42V;ENSP00000443468:A42V;ENSP00000443490:A42V;ENSP00000442801:A62V;ENSP00000440679:A91V	ENSP00000266546:A79V	A	+	2	0	CLSTN3	7177484	1.000000	0.71417	0.964000	0.40570	0.947000	0.59692	7.487000	0.81328	2.205000	0.71048	0.561000	0.74099	GCT		0.622	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718	
CD163L1	283316	broad.mit.edu	37	12	7548802	7548802	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:7548802G>A	ENST00000313599.3	-	8	1996	c.1939C>T	c.(1939-1941)Ctc>Ttc	p.L647F	CD163L1_ENST00000396630.1_Missense_Mutation_p.L647F|CD163L1_ENST00000416109.2_Missense_Mutation_p.L657F			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	647	SRCR 6. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.L647F(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ACATCATCGAGCCAAATTTTT	0.483																																					p.L647F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1939T	12						.						118.0	100.0	106.0					12																	7548802		2203	4300	6503	7440069	SO:0001583	missense	283316	exon8			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.1939C>T	12.37:g.7548802G>A	ENSP00000315945:p.Leu647Phe		7440069	NM_174941	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163826	0.38217	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630;ENST00000545926	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	2.23	1.28	0.21552	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.174679	0.25377	U	0.031119	T	0.55970	0.1954	M	0.76002	2.32	0.26703	N	0.971138	P;P	0.50617	0.937;0.922	P;P	0.61940	0.896;0.794	T	0.46721	-0.9171	10	0.62326	D	0.03	.	7.9604	0.30068	0.0:0.0:0.754:0.246	.	657;647	E7EVK4;Q9NR16	.;C163B_HUMAN	F	647;657;647;186	ENSP00000315945:L647F;ENSP00000393474:L657F;ENSP00000379871:L647F;ENSP00000439921:L186F	ENSP00000315945:L647F	L	-	1	0	CD163L1	7440069	0.992000	0.36948	0.639000	0.29394	0.124000	0.20399	0.319000	0.19522	0.446000	0.26666	0.557000	0.71058	CTC		0.483	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941	
PHC1	1911	broad.mit.edu	37	12	9074221	9074221	+	Missense_Mutation	SNP	G	G	A	rs376941587		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:9074221G>A	ENST00000543824.1	+	6	663	c.331G>A	c.(331-333)Gcc>Acc	p.A111T	PHC1_ENST00000544916.1_Missense_Mutation_p.A111T|PHC1_ENST00000433083.2_Missense_Mutation_p.A74T|PHC1_ENST00000536844.1_5'UTR|PHC1_ENST00000433847.2_3'UTR			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	111					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.A111T(1)		breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						CACATCGGCCGCCCAGCTCAT	0.537																																					p.A111T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G331A	12						.	G	THR/ALA	0,4406		0,0,2203	69.0	59.0	62.0		331	4.7	1.0	12		62	1,8599	1.2+/-3.3	0,1,4299	no	missense	PHC1	NM_004426.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	111/1005	9074221	1,13005	2203	4300	6503	8965488	SO:0001583	missense	1911	exon5			U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"""Sterile alpha motif (SAM) domain containing"""	3182	protein-coding gene	gene with protein product		602978	"""early development regulator 1 (homolog of polyhomeotic 1)"", ""polyhomeotic-like 1 (Drosophila)"""	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.331G>A	12.37:g.9074221G>A	ENSP00000440674:p.Ala111Thr		8965488	NM_004426	D3DUV4|Q8WVM3|Q9BU63	Missense_Mutation	SNP	ENST00000543824.1	37	CCDS8597.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029470	0.75504	0.0	1.16E-4	ENSG00000111752	ENST00000538657;ENST00000543824;ENST00000251757;ENST00000433083;ENST00000544916;ENST00000544539;ENST00000541181	T;T;T;T	0.39229	1.09;1.09;1.31;1.09	5.59	4.71	0.59529	.	0.000000	0.64402	D	0.000002	T	0.57227	0.2039	L	0.47190	1.495	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;P;P	0.76575	0.988;0.838;0.838	T	0.60383	-0.7274	10	0.72032	D	0.01	-15.0423	14.1923	0.65646	0.0725:0.0:0.9275:0.0	.	111;111;111	B4DF21;P78364;B2RXH1	.;PHC1_HUMAN;.	T	111;111;111;74;111;111;128	ENSP00000440674:A111T;ENSP00000251757:A111T;ENSP00000399194:A74T;ENSP00000437659:A111T	ENSP00000251757:A111T	A	+	1	0	PHC1	8965488	1.000000	0.71417	0.960000	0.40013	0.984000	0.73092	8.823000	0.92018	1.368000	0.46115	0.655000	0.94253	GCC		0.537	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1	NM_004426	
PZP	5858	broad.mit.edu	37	12	9309803	9309803	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:9309803A>G	ENST00000261336.2	-	28	3546	c.3518T>C	c.(3517-3519)cTg>cCg	p.L1173P	PZP_ENST00000381997.2_Missense_Mutation_p.L959P	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1173					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.L959P(1)|p.L1173P(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AAGTGAGTTCAGTATTTCTCT	0.468																																					p.L1173P	Melanoma(125;1402 1695 4685 34487 38571)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T3518C	12						.						153.0	129.0	137.0					12																	9309803		2203	4300	6503	9201070	SO:0001583	missense	5858	exon28			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.3518T>C	12.37:g.9309803A>G	ENSP00000261336:p.Leu1173Pro		9201070	NM_002864	A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	A	14.95	2.686920	0.48097	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.44083	0.93;0.93	3.37	3.37	0.38596	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.000000	0.52532	U	0.000062	T	0.73442	0.3587	H	0.96996	3.92	0.39614	D	0.969938	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82583	-0.0385	10	0.87932	D	0	.	11.539	0.50655	1.0:0.0:0.0:0.0	.	959;1173	P20742-2;P20742	.;PZP_HUMAN	P	1173;959	ENSP00000261336:L1173P;ENSP00000371427:L959P	ENSP00000261336:L1173P	L	-	2	0	PZP	9201070	0.899000	0.30636	0.015000	0.15790	0.067000	0.16453	5.571000	0.67404	1.758000	0.51981	0.455000	0.32223	CTG		0.468	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864	
CLECL1	160365	broad.mit.edu	37	12	9885623	9885623	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:9885623C>T	ENST00000327839.3	-	1	272	c.238G>A	c.(238-240)Gct>Act	p.A80T		NM_172004.3	NP_742001.1	Q8IZS7	CLCL1_HUMAN	C-type lectin-like 1	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.A80T(1)		breast(1)|kidney(1)|large_intestine(4)|lung(3)	9						ACATCTCCAGCCATTGCACAG	0.433																																					p.A80T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G238A	12						.						87.0	88.0	88.0					12																	9885623		2203	4300	6503	9776890	SO:0001583	missense	160365	exon1			AF518873	CCDS8603.1, CCDS73441.1	12p13.31	2007-06-21				ENSG00000184293			24462	protein-coding gene	gene with protein product	"""dendritic cell associated lectin 1"""	607467				12421943	Standard	NM_172004		Approved	DCAL1	uc001qwi.3	Q8IZS7		ENST00000327839.3:c.238G>A	12.37:g.9885623C>T	ENSP00000331766:p.Ala80Thr		9776890	NM_172004		Missense_Mutation	SNP	ENST00000327839.3	37	CCDS8603.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.33|11.33	1.606789|1.606789	0.28623|0.28623	.|.	.|.	ENSG00000184293|ENSG00000184293	ENST00000327839|ENST00000542530	T|.	0.48836|.	0.8|.	1.93|1.93	-0.141|-0.141	0.13452|0.13452	.|.	.|.	.|.	.|.	.|.	T|.	0.21267|.	0.0512|.	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	D|.	0.53885|.	0.963|.	P|.	0.51193|.	0.662|.	T|.	0.28235|.	-1.0050|.	8|.	.|.	.|.	.|.	.|.	6.2444|6.2444	0.20810|0.20810	0.4836:0.5164:0.0:0.0|0.4836:0.5164:0.0:0.0	.|.	80|.	Q8IZS7|.	CLCL1_HUMAN|.	T|X	80|31	ENSP00000331766:A80T|.	.|.	A|W	-|-	1|3	0|0	CLECL1|CLECL1	9776890|9776890	0.834000|0.834000	0.29399|0.29399	0.077000|0.077000	0.20336|0.20336	0.264000|0.264000	0.26372|0.26372	0.442000|0.442000	0.21628|0.21628	-0.047000|-0.047000	0.13423|0.13423	0.596000|0.596000	0.82720|0.82720	GCT|TGG		0.433	CLECL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399815.1	NM_172004	
MGST1	4257	broad.mit.edu	37	12	16516815	16516815	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:16516815C>T	ENST00000396209.1	+	4	451	c.308C>T	c.(307-309)gCc>gTc	p.A103V	MGST1_ENST00000010404.2_Missense_Mutation_p.A103V|MGST1_ENST00000396210.3_Missense_Mutation_p.A103V|MGST1_ENST00000540056.1_3'UTR|MGST1_ENST00000396207.1_Missense_Mutation_p.A103V|MGST1_ENST00000535309.1_Intron	NM_145791.2	NP_665734.1	P10620	MGST1_HUMAN	microsomal glutathione S-transferase 1	103					cellular response to lipid hydroperoxide (GO:0071449)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|Leydig cell differentiation (GO:0033327)|oxidation-reduction process (GO:0055114)|protein homotrimerization (GO:0070207)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	apical part of cell (GO:0045177)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	glutathione binding (GO:0043295)|glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)	p.A103V(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9		Hepatocellular(102;0.121)			Glutathione(DB00143)	CCCTCTACAGCCATCCTGCAC	0.453																																					p.A103V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C308T	12						.						188.0	172.0	177.0					12																	16516815		2203	4300	6503	16408082	SO:0001583	missense	4257	exon4			U46494	CCDS8677.1, CCDS58209.1	12p12.3-p12.1	2012-06-21			ENSG00000008394	ENSG00000008394	2.5.1.18	"""Glutathione S-transferases / Microsomal"""	7061	protein-coding gene	gene with protein product		138330		GST12			Standard	NM_145792		Approved	MGST-I	uc031qgl.1	P10620	OTTHUMG00000168816	ENST00000396209.1:c.308C>T	12.37:g.16516815C>T	ENSP00000379512:p.Ala103Val		16408082	NM_145764	A8K533|G5EA53	Missense_Mutation	SNP	ENST00000396209.1	37	CCDS8677.1	.	.	.	.	.	.	.	.	.	.	C	31	5.077804	0.94000	.	.	ENSG00000008394	ENST00000010404;ENST00000543076;ENST00000396210;ENST00000396209;ENST00000396207	T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43	5.27	5.27	0.74061	Membrane associated eicosanoid/glutathione metabolism-like domain (1);	0.000000	0.85682	D	0.000000	T	0.74703	0.3751	M	0.89287	3.02	0.80722	D	1	D	0.71674	0.998	P	0.59056	0.851	T	0.78409	-0.2215	10	0.51188	T	0.08	-0.7775	19.0723	0.93145	0.0:1.0:0.0:0.0	.	103	P10620	MGST1_HUMAN	V	103;67;103;103;103	ENSP00000010404:A103V;ENSP00000442767:A67V;ENSP00000379513:A103V;ENSP00000379512:A103V;ENSP00000379510:A103V	ENSP00000010404:A103V	A	+	2	0	MGST1	16408082	1.000000	0.71417	0.979000	0.43373	0.754000	0.42855	6.731000	0.74785	2.739000	0.93911	0.655000	0.94253	GCC		0.453	MGST1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401189.1	NM_145791	
RERGL	79785	broad.mit.edu	37	12	18237469	18237469	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:18237469T>C	ENST00000229002.2	-	5	523	c.317A>G	c.(316-318)cAa>cGa	p.Q106R	RERGL_ENST00000536890.1_3'UTR|RERGL_ENST00000538724.1_Missense_Mutation_p.Q105R|RERGL_ENST00000541632.1_5'UTR	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	106	Small GTPase-like.				GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)	p.Q106R(2)		endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						ATGACTAGTTTGTGGCTCCCG	0.373																																					p.Q106R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A317G	12						.						137.0	138.0	138.0					12																	18237469		2203	4300	6503	18128736	SO:0001583	missense	79785	exon5			AK026308	CCDS8679.1, CCDS66332.1	12p12.3	2014-08-12			ENSG00000111404	ENSG00000111404			26213	protein-coding gene	gene with protein product						24127187	Standard	NM_001286201		Approved	FLJ22655	uc001rdq.3	Q9H628	OTTHUMG00000168820	ENST00000229002.2:c.317A>G	12.37:g.18237469T>C	ENSP00000229002:p.Gln106Arg		18128736	NM_024730		Missense_Mutation	SNP	ENST00000229002.2	37	CCDS8679.1	.	.	.	.	.	.	.	.	.	.	T	2.108	-0.404529	0.04832	.	.	ENSG00000111404	ENST00000229002;ENST00000538724	T;T	0.76448	-1.02;-1.02	4.91	3.71	0.42584	.	0.245572	0.43110	D	0.000604	T	0.57066	0.2028	N	0.11427	0.14	0.80722	D	1	B;B	0.10296	0.0;0.003	B;B	0.06405	0.0;0.002	T	0.46624	-0.9178	10	0.19590	T	0.45	.	10.7395	0.46145	0.0:0.0:0.2172:0.7827	.	105;106	F5H686;Q9H628	.;RERGL_HUMAN	R	106;105	ENSP00000229002:Q106R;ENSP00000437814:Q105R	ENSP00000229002:Q106R	Q	-	2	0	RERGL	18128736	0.998000	0.40836	0.885000	0.34714	0.312000	0.27988	3.051000	0.49885	0.883000	0.36040	0.383000	0.25322	CAA		0.373	RERGL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401198.1	NM_024730	
AEBP2	121536	broad.mit.edu	37	12	19626226	19626226	+	Silent	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:19626226A>T	ENST00000398864.3	+	3	950	c.924A>T	c.(922-924)ccA>ccT	p.P308P	AEBP2_ENST00000360995.4_Silent_p.P92P|AEBP2_ENST00000266508.9_Silent_p.P308P|AEBP2_ENST00000541908.1_Silent_p.P79P	NM_001114176.1	NP_001107648.1	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	308					chromatin modification (GO:0016568)	ESC/E(Z) complex (GO:0035098)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)	p.P308P(1)		ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					ATAACACTCCATCTACCAGTC	0.313																																					p.P308P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A924T	12						.						70.0	67.0	68.0					12																	19626226		1859	4122	5981	19517493	SO:0001819	synonymous_variant	121536	exon3				CCDS44841.1, CCDS44842.1, CCDS58215.1	12p12.3	2012-10-02			ENSG00000139154	ENSG00000139154			24051	protein-coding gene	gene with protein product						10329662	Standard	NM_153207		Approved	MGC17922	uc001ref.2	Q6ZN18	OTTHUMG00000168906	ENST00000398864.3:c.924A>T	12.37:g.19626226A>T			19517493	NM_153207	Q59FS5|Q6ZN62|Q96BG3	Silent	SNP	ENST00000398864.3	37	CCDS44841.1																																																																																				0.313	AEBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401575.1	NM_153207	
CMAS	55907	broad.mit.edu	37	12	22208175	22208175	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:22208175A>T	ENST00000229329.2	+	2	483	c.353A>T	c.(352-354)gAc>gTc	p.D118V		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	118					lipopolysaccharide biosynthetic process (GO:0009103)|N-acetylneuraminate metabolic process (GO:0006054)	membrane (GO:0016020)|nucleus (GO:0005634)	N-acylneuraminate cytidylyltransferase activity (GO:0008781)	p.D118V(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						GTTTCAAAAGACAGCTCTACC	0.338																																					p.D118V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A353T	12						.						78.0	76.0	76.0					12																	22208175		2203	4300	6503	22099442	SO:0001583	missense	55907	exon2			AF271388	CCDS8696.1	12p12.1	2008-08-04			ENSG00000111726	ENSG00000111726			18290	protein-coding gene	gene with protein product	"""CMP-Neu5Ac synthetase"""	603316				8889549, 7566098	Standard	NM_018686		Approved		uc001rfm.4	Q8NFW8	OTTHUMG00000169097	ENST00000229329.2:c.353A>T	12.37:g.22208175A>T	ENSP00000229329:p.Asp118Val		22099442	NM_018686	Q96AX5|Q9NQZ0	Missense_Mutation	SNP	ENST00000229329.2	37	CCDS8696.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.260950	0.80246	.	.	ENSG00000111726	ENST00000229329	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.87071	0.6086	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.90987	0.4832	9	0.87932	D	0	-17.235	14.2431	0.65971	1.0:0.0:0.0:0.0	.	118	Q8NFW8	NEUA_HUMAN	V	118	.	ENSP00000229329:D118V	D	+	2	0	CMAS	22099442	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.618000	0.90932	2.099000	0.63709	0.482000	0.46254	GAC		0.338	CMAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402235.1	NM_018686	
SOX5	6660	broad.mit.edu	37	12	23998970	23998970	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:23998970A>G	ENST00000451604.2	-	3	529	c.428T>C	c.(427-429)gTt>gCt	p.V143A	SOX5_ENST00000546136.1_Missense_Mutation_p.V130A|SOX5_ENST00000537393.1_Missense_Mutation_p.V108A|SOX5_ENST00000545921.1_Missense_Mutation_p.V133A|SOX5_ENST00000381381.2_Missense_Mutation_p.V130A|SOX5_ENST00000541847.1_Missense_Mutation_p.V133A|SOX5_ENST00000541536.1_Missense_Mutation_p.V130A|SOX5_ENST00000309359.1_Missense_Mutation_p.V130A|SOX5_ENST00000441133.2_Missense_Mutation_p.V108A			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	143					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.V143A(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CAAGGTGTCAACAACATCAGC	0.498																																					p.V130A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T389C	12						.						131.0	119.0	123.0					12																	23998970		2203	4300	6503	23890237	SO:0001583	missense	6660	exon6			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.428T>C	12.37:g.23998970A>G	ENSP00000398273:p.Val143Ala		23890237	NM_152989	B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.264197	0.80358	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921;ENST00000541847;ENST00000441133;ENST00000538083	D;D;D;D;D;D;D	0.97941	-4.62;-4.62;-4.6;-4.62;-4.5;-4.6;-4.62	5.79	5.79	0.91817	.	0.061993	0.64402	D	0.000004	D	0.98516	0.9505	M	0.77820	2.39	0.58432	D	0.999999	D;D;P;D	0.89917	0.998;0.999;0.954;1.0	D;D;D;D	0.85130	0.99;0.997;0.932;0.997	D	0.98863	1.0763	10	0.33141	T	0.24	.	16.1299	0.81422	1.0:0.0:0.0:0.0	.	108;108;130;143	G3V0H1;F5H0I3;P35711-4;P35711	.;.;.;SOX5_HUMAN	A	130;130;130;143;95;108;130;133;133;108;130	ENSP00000437487:V130A;ENSP00000308927:V130A;ENSP00000370788:V130A;ENSP00000398273:V143A;ENSP00000439832:V108A;ENSP00000441973:V130A;ENSP00000443520:V133A	ENSP00000308927:V130A	V	-	2	0	SOX5	23890237	1.000000	0.71417	0.203000	0.23512	0.997000	0.91878	8.946000	0.92992	2.215000	0.71742	0.528000	0.53228	GTT		0.498	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940	
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											p.G12D	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	KRAS,haematopoietic_and_lymphoid_tissue,NS,Substitution - Missense,0 	.	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	c.G35A	12						.						91.0	81.0	85.0					12																	25398284		2203	4300	6503	25289551	SO:0001583	missense	3845	exon2	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp		25289551	NM_004985	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
ITPR2	3709	broad.mit.edu	37	12	26731668	26731668	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:26731668A>G	ENST00000381340.3	-	34	5024	c.4608T>C	c.(4606-4608)tgT>tgC	p.C1536C		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1536					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.C1536C(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	AAGTTCTGATACAGGATTCCA	0.403																																					p.C1536C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T4608C	12						.						136.0	131.0	133.0					12																	26731668		1844	4091	5935	26622935	SO:0001819	synonymous_variant	3709	exon34			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.4608T>C	12.37:g.26731668A>G			26622935	NM_002223	O94773	Silent	SNP	ENST00000381340.3	37	CCDS41764.1																																																																																				0.403	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223	
TMTC1	83857	broad.mit.edu	37	12	29709847	29709847	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:29709847G>A	ENST00000539277.1	-	10	1677	c.1619C>T	c.(1618-1620)gCt>gTt	p.A540V	TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000552618.1_Missense_Mutation_p.A564V|TMTC1_ENST00000256062.5_Missense_Mutation_p.A432V|TMTC1_ENST00000551659.1_Missense_Mutation_p.A602V|TMTC1_ENST00000381224.2_Missense_Mutation_p.A494V	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	540						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.A432D(1)|p.A432V(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GAGCTGGAGAGCCCTCTGATA	0.498																																					p.A540V												.	.	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)	c.C1619T	12						.						227.0	189.0	202.0					12																	29709847		2203	4300	6503	29601114	SO:0001583	missense	83857	exon10				CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.1619C>T	12.37:g.29709847G>A	ENSP00000442046:p.Ala540Val		29601114	NM_001193451	D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	G	34	5.325471	0.95708	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277;ENST00000381224	T;T;T;T;T	0.74106	-0.7;-0.7;-0.81;-0.7;-0.7	5.48	5.48	0.80851	Tetratricopeptide-like helical (1);PIK-related kinase, FAT (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.85944	0.5815	M	0.74389	2.26	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.981;0.995;0.981	D	0.85719	0.1324	9	.	.	.	-13.9388	17.9347	0.89009	0.0:0.0:1.0:0.0	.	494;540;602	Q8IUR5-3;Q8IUR5;F8VTQ9	.;TMTC1_HUMAN;.	V	303;432;602;564;540;494	ENSP00000256062:A432V;ENSP00000448112:A602V;ENSP00000449043:A564V;ENSP00000442046:A540V;ENSP00000370622:A494V	.	A	-	2	0	TMTC1	29601114	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	8.945000	0.92985	2.576000	0.86940	0.655000	0.94253	GCT		0.498	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920	
DDX11	1663	broad.mit.edu	37	12	31253967	31253967	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:31253967T>C	ENST00000407793.2	+	20	2206	c.1955T>C	c.(1954-1956)gTg>gCg	p.V652A	DDX11_ENST00000350437.4_Missense_Mutation_p.V652A|DDX11_ENST00000228264.6_Missense_Mutation_p.V626A|DDX11_ENST00000542838.1_Missense_Mutation_p.V652A|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000545668.1_Missense_Mutation_p.V652A	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	652					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.V652G(4)|p.V652A(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CCAGGTCACGTGATCCCTCCA	0.577										Multiple Myeloma(12;0.14)																											p.V652A												.	.	5	Substitution - Missense(5)	lung(4)|large_intestine(1)	c.T1955C	12						.						94.0	103.0	100.0					12																	31253967		2203	4300	6503	31145234	SO:0001583	missense	1663	exon20			U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.1955T>C	12.37:g.31253967T>C	ENSP00000384703:p.Val652Ala		31145234	NM_004399	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.124013	0.77436	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000404673;ENST00000228264;ENST00000545668;ENST00000350437	D;T;D;T;D	0.84730	-1.89;-1.12;-1.8;-1.12;-1.81	3.75	3.75	0.43078	.	0.060292	0.64402	D	0.000003	D	0.93099	0.7803	M	0.93016	3.37	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.997;0.998	D	0.93753	0.7060	10	0.87932	D	0	.	10.5346	0.44996	0.0:0.0:0.0:1.0	.	652;652;652	Q96FC9;Q96FC9-4;Q96FC9-2	DDX11_HUMAN;.;.	A	652;652;377;626;652;652	ENSP00000443426:V652A;ENSP00000384703:V652A;ENSP00000228264:V626A;ENSP00000440402:V652A;ENSP00000309965:V652A	ENSP00000228264:V626A	V	+	2	0	DDX11	31145234	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.065000	0.76727	1.574000	0.49760	0.487000	0.48397	GTG		0.577	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653	
KIAA1551	55196	broad.mit.edu	37	12	32134931	32134931	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:32134931C>T	ENST00000312561.4	+	4	1456	c.1042C>T	c.(1042-1044)Cag>Tag	p.Q348*	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	348								p.Q348*(1)									CAACAGCAAACAGCCTTTTAA	0.368																																					p.Q348X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1042T	12						.						86.0	85.0	85.0					12																	32134931		2203	4300	6503	32026198	SO:0001587	stop_gained	55196	exon4			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.1042C>T	12.37:g.32134931C>T	ENSP00000310338:p.Gln348*		32026198	NM_018169	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Nonsense_Mutation	SNP	ENST00000312561.4	37	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	C	38	6.819189	0.97861	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	.	.	.	5.36	5.36	0.76844	.	0.121632	0.36234	N	0.002701	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8182	0.78621	0.0:1.0:0.0:0.0	.	.	.	.	X	348	.	.	Q	+	1	0	C12orf35	32026198	0.204000	0.23447	0.047000	0.18901	0.023000	0.10783	1.844000	0.39269	2.506000	0.84524	0.555000	0.69702	CAG		0.368	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169	
ALG10B	144245	broad.mit.edu	37	12	38714171	38714171	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:38714171C>T	ENST00000308742.4	+	3	894	c.578C>T	c.(577-579)gCt>gTt	p.A193V	ALG10B_ENST00000551464.1_Intron|AC117372.1_ENST00000401168.2_RNA	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	193					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				ATCATCTGGGCTGTCTTCTGT	0.393																																					p.A193V												.	.	0			c.C578T	12						.						154.0	157.0	156.0					12																	38714171		2203	4300	6503	37000438	SO:0001583	missense	144245	exon3			AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"""potassium channel regulator 1"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""		"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"""				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.578C>T	12.37:g.38714171C>T	ENSP00000310120:p.Ala193Val		37000438	NM_001013620	B2RPF4	Missense_Mutation	SNP	ENST00000308742.4	37	CCDS31772.1	.	.	.	.	.	.	.	.	.	.	c	0.021	-1.428422	0.01117	.	.	ENSG00000175548	ENST00000308742	T	0.56275	0.47	3.26	2.36	0.29203	.	0.442255	0.27122	N	0.020833	T	0.16471	0.0396	N	0.01289	-0.905	0.80722	D	1	B	0.10296	0.003	B	0.12156	0.007	T	0.24977	-1.0145	10	0.02654	T	1	.	5.3072	0.15811	0.0:0.7419:0.0:0.2581	.	193	Q5I7T1	AG10B_HUMAN	V	193	ENSP00000310120:A193V	ENSP00000310120:A193V	A	+	2	0	ALG10B	37000438	1.000000	0.71417	0.457000	0.27056	0.414000	0.31173	5.443000	0.66581	0.942000	0.37525	0.561000	0.74099	GCT		0.393	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620	
ABCD2	225	broad.mit.edu	37	12	40012745	40012745	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:40012745A>G	ENST00000308666.3	-	1	808	c.673T>C	c.(673-675)Tat>Cat	p.Y225H		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	225	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)	p.Y225H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						AGATTGGAATACAAGTGAGCC	0.438																																					p.Y225H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T673C	12						.						133.0	127.0	129.0					12																	40012745		2203	4300	6503	38299012	SO:0001583	missense	225	exon1			U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.673T>C	12.37:g.40012745A>G	ENSP00000310688:p.Tyr225His		38299012	NM_005164	B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	A	18.37	3.608113	0.66558	.	.	ENSG00000173208	ENST00000308666	D	0.91686	-2.89	4.96	4.96	0.65561	ABC transporter, N-terminal (1);ABC transporter, integral membrane type 1 (1);	0.000000	0.85682	D	0.000000	D	0.97294	0.9115	H	0.95950	3.745	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.98537	1.0630	9	.	.	.	-0.9786	14.6449	0.68754	1.0:0.0:0.0:0.0	.	225	Q9UBJ2	ABCD2_HUMAN	H	225	ENSP00000310688:Y225H	.	Y	-	1	0	ABCD2	38299012	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	8.788000	0.91834	1.849000	0.53698	0.455000	0.32223	TAT		0.438	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164	
LRRK2	120892	broad.mit.edu	37	12	40715970	40715970	+	Silent	SNP	T	T	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:40715970T>G	ENST00000298910.7	+	36	5362	c.5304T>G	c.(5302-5304)ccT>ccG	p.P1768P		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1768					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.P1768P(1)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTACAGTTCCTTCTTGTAGAA	0.303																																					p.P1768P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T5304G	12						.						57.0	60.0	59.0					12																	40715970		2201	4300	6501	39002237	SO:0001819	synonymous_variant	120892	exon36			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.5304T>G	12.37:g.40715970T>G			39002237	NM_198578	A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	ENST00000298910.7	37	CCDS31774.1																																																																																				0.303	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	
CNTN1	1272	broad.mit.edu	37	12	41323612	41323612	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:41323612C>T	ENST00000551295.2	+	7	628	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C	CNTN1_ENST00000347616.1_Missense_Mutation_p.R171C|CNTN1_ENST00000547849.1_Missense_Mutation_p.R171C|CNTN1_ENST00000348761.2_Missense_Mutation_p.R160C|CNTN1_ENST00000360099.3_Missense_Mutation_p.R171C|CNTN1_ENST00000547702.1_Missense_Mutation_p.R171C	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	171	Ig-like C2-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.R171C(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TCTTAGCTATCGCTGGCTTCT	0.358																																					p.R160C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C478T	12						.						70.0	69.0	69.0					12																	41323612		2203	4299	6502	39609879	SO:0001583	missense	1272	exon6			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.511C>T	12.37:g.41323612C>T	ENSP00000447006:p.Arg171Cys		39609879	NM_175038	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132887	0.77662	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65;2.65	5.48	5.48	0.80851	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.051660	0.85682	D	0.000000	T	0.46464	0.1394	M	0.88570	2.965	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.998	T	0.45234	-0.9275	10	0.40728	T	0.16	.	19.751	0.96268	0.0:1.0:0.0:0.0	.	171;160;171	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	C	171;171;171;171;171;160	ENSP00000448004:R171C;ENSP00000447006:R171C;ENSP00000448653:R171C;ENSP00000325660:R171C;ENSP00000353213:R171C;ENSP00000261160:R160C	ENSP00000325660:R171C	R	+	1	0	CNTN1	39609879	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.690000	0.68241	2.756000	0.94617	0.655000	0.94253	CGC		0.358	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843	
NELL2	4753	broad.mit.edu	37	12	45173496	45173496	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:45173496C>A	ENST00000429094.2	-	5	1060	c.556G>T	c.(556-558)Ggc>Tgc	p.G186C	NELL2_ENST00000549027.1_Missense_Mutation_p.G185C|NELL2_ENST00000333837.4_Missense_Mutation_p.G209C|NELL2_ENST00000551601.1_Missense_Mutation_p.G185C|NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000437801.2_Missense_Mutation_p.G236C|NELL2_ENST00000452445.2_Missense_Mutation_p.G186C|NELL2_ENST00000395487.2_Missense_Mutation_p.G185C	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	186	Laminin G-like.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.G236C(1)|p.G186C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		AATGTTGTGCCTAGAGGCAAG	0.368																																					p.G186C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G556T	12						.						89.0	85.0	87.0					12																	45173496		2203	4299	6502	43459763	SO:0001583	missense	4753	exon5			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.556G>T	12.37:g.45173496C>A	ENSP00000390680:p.Gly186Cys		43459763	NM_001145108	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322040	0.81580	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684;ENST00000552993	T;T;T;T;T;T;T;T	0.02916	4.11;4.11;4.11;4.11;4.11;4.11;4.11;4.11	5.48	5.48	0.80851	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.049066	0.85682	D	0.000000	T	0.16128	0.0388	M	0.70595	2.14	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999;1.0	D;D;D;D;D;D	0.85130	0.997;0.997;0.955;0.991;0.973;0.997	T	0.00064	-1.2152	10	0.87932	D	0	-21.7116	19.3597	0.94432	0.0:1.0:0.0:0.0	.	209;236;185;186;186;185	B7Z2U7;B7Z9U3;F8VVB6;B3KTI3;Q99435;Q96JS2	.;.;.;.;NELL2_HUMAN;.	C	185;186;185;186;185;209;236;185;186	ENSP00000378866:G185C;ENSP00000390680:G186C;ENSP00000449332:G185C;ENSP00000394612:G186C;ENSP00000447927:G185C;ENSP00000327988:G209C;ENSP00000416341:G236C;ENSP00000447085:G186C	ENSP00000327988:G209C	G	-	1	0	NELL2	43459763	1.000000	0.71417	0.996000	0.52242	0.681000	0.39784	7.487000	0.81328	2.566000	0.86566	0.650000	0.86243	GGC		0.368	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159	
ARID2	196528	broad.mit.edu	37	12	46211555	46211555	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:46211555A>G	ENST00000334344.6	+	5	693	c.521A>G	c.(520-522)gAc>gGc	p.D174G	ARID2_ENST00000422737.1_Missense_Mutation_p.D25G	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	174					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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.D174G(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AATGAAGTGGACTTTGCTATT	0.378			"""N, S, F"""		hepatocellular carcinoma																																p.D174G			Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A521G	12						.						102.0	92.0	95.0					12																	46211555		2203	4300	6503	44497822	SO:0001583	missense	196528	exon5				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.521A>G	12.37:g.46211555A>G	ENSP00000335044:p.Asp174Gly		44497822	NM_152641	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	CCDS31783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.1|26.1	4.702680|4.702680	0.88924|0.88924	.|.	.|.	ENSG00000189079|ENSG00000189079	ENST00000334344;ENST00000422737|ENST00000549153;ENST00000338636	T;T|.	0.51574|.	0.7;0.7|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75657|0.75657	0.3879|0.3879	M|M	0.74467|0.74467	2.265|2.265	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	D|.	0.77004|.	0.989|.	T|T	0.79303|0.79303	-0.1859|-0.1859	10|6	0.72032|0.87932	D|D	0.01|0	-8.148|-8.148	15.3668|15.3668	0.74529|0.74529	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	174|.	Q68CP9|.	ARID2_HUMAN|.	G|A	174;25|66	ENSP00000335044:D174G;ENSP00000415650:D25G|.	ENSP00000335044:D174G|ENSP00000339739:T66A	D|T	+|+	2|1	0|0	ARID2|ARID2	44497822|44497822	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.335000|9.335000	0.96500|0.96500	2.021000|2.021000	0.59480|0.59480	0.454000|0.454000	0.30748|0.30748	GAC|ACT		0.378	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875	
ARID2	196528	broad.mit.edu	37	12	46245858	46245858	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:46245858C>T	ENST00000334344.6	+	15	4124	c.3952C>T	c.(3952-3954)Cag>Tag	p.Q1318*	ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q1169*|ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q928*|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1318					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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.Q1318*(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TGAGACTAATCAGTGCTCACT	0.393			"""N, S, F"""		hepatocellular carcinoma																																p.Q1318X			Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3952T	12						.						54.0	53.0	54.0					12																	46245858		2203	4300	6503	44532125	SO:0001587	stop_gained	196528	exon15				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3952C>T	12.37:g.46245858C>T	ENSP00000335044:p.Gln1318*		44532125	NM_152641	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Nonsense_Mutation	SNP	ENST00000334344.6	37	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	C	43	10.250677	0.99368	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670	.	.	.	6.07	6.07	0.98685	.	0.312106	0.32314	N	0.006264	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-5.0E-4	13.7909	0.63140	0.0:0.9305:0.0:0.0695	.	.	.	.	X	1318;435;435;1169;928	.	ENSP00000335044:Q1318X	Q	+	1	0	ARID2	44532125	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.116000	0.41930	2.884000	0.98904	0.655000	0.94253	CAG		0.393	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875	
TMEM106C	79022	broad.mit.edu	37	12	48359115	48359115	+	Missense_Mutation	SNP	C	C	T	rs146483924	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:48359115C>T	ENST00000429772.2	+	3	351	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C	TMEM106C_ENST00000550552.1_Missense_Mutation_p.R80C|TMEM106C_ENST00000552561.1_Missense_Mutation_p.R80C|TMEM106C_ENST00000449758.2_Missense_Mutation_p.R80C|TMEM106C_ENST00000552546.1_Intron|TMEM106C_ENST00000549288.1_Intron|TMEM106C_ENST00000256686.6_Missense_Mutation_p.R80C	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C	80						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.R80C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		TCAGAGATTGCGCCCTCAGCG	0.408																																					p.R80C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C238T	12						.	C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	137.0	119.0	125.0		238,238,238,238	4.4	1.0	12	dbSNP_134	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	TMEM106C	NM_001143841.1,NM_001143842.1,NM_001143843.1,NM_024056.3	180,180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	80/232,80/251,80/232,80/251	48359115	1,13005	2203	4300	6503	46645382	SO:0001583	missense	79022	exon3			BC000854	CCDS8758.1, CCDS44867.1	12q13.1	2005-12-19				ENSG00000134291			28775	protein-coding gene	gene with protein product							Standard	NM_024056		Approved	MGC5576	uc001rqr.3	Q9BVX2	OTTHUMG00000169892	ENST00000429772.2:c.238C>T	12.37:g.48359115C>T	ENSP00000400471:p.Arg80Cys		46645382	NM_024056	B2R998|B7Z5M4|Q3B761	Missense_Mutation	SNP	ENST00000429772.2	37	CCDS8758.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928501	0.92389	0.0	1.16E-4	ENSG00000134291	ENST00000256686;ENST00000552561;ENST00000550552;ENST00000429772;ENST00000449758	T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66	4.37	4.37	0.52481	.	0.156867	0.48767	D	0.000163	T	0.51975	0.1706	M	0.65975	2.015	0.80722	D	1	D;D	0.76494	0.999;0.999	D;P	0.63597	0.916;0.862	T	0.55976	-0.8055	10	0.87932	D	0	0.1116	16.7328	0.85439	0.0:1.0:0.0:0.0	.	80;80	Q9BVX2;Q9BVX2-2	T106C_HUMAN;.	C	80	ENSP00000256686:R80C;ENSP00000446657:R80C;ENSP00000449737:R80C;ENSP00000400471:R80C;ENSP00000402705:R80C	ENSP00000256686:R80C	R	+	1	0	TMEM106C	46645382	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	5.039000	0.64185	2.727000	0.93392	0.655000	0.94253	CGC		0.408	TMEM106C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406452.1	NM_024056	
ANP32D	23519	broad.mit.edu	37	12	48866824	48866824	+	Missense_Mutation	SNP	C	C	T	rs570494201		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:48866824C>T	ENST00000266594.1	+	1	377	c.377C>T	c.(376-378)aCc>aTc	p.T126I		NM_012404.2	NP_036536.2	O95626	AN32D_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member D	126						nuclear matrix (GO:0016363)		p.T126I(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						TGCGAGGTAACCAACCTGAAC	0.448													c|||	1	0.000199681	0.0008	0.0	5008	,	,		20248	0.0		0.0	False		,,,				2504	0.0				p.T126I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C377T	12						.						85.0	84.0	85.0					12																	48866824		2203	4300	6503	47153091	SO:0001583	missense	23519	exon1			U71084	CCDS31788.1	12q13.12	2008-08-04			ENSG00000139223	ENSG00000139223		"""ANP32 acidic nuclear phosphoproteins"""	16676	protein-coding gene	gene with protein product	"""pp32 related 2"""	606878				10086381, 10400610	Standard	NM_012404		Approved	PP32R2	uc010slt.2	O95626	OTTHUMG00000162681	ENST00000266594.1:c.377C>T	12.37:g.48866824C>T	ENSP00000266594:p.Thr126Ile		47153091	NM_012404	Q6NTC4	Missense_Mutation	SNP	ENST00000266594.1	37	CCDS31788.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.247549	0.39697	.	.	ENSG00000139223	ENST00000266594	T	0.25250	1.81	1.67	0.66	0.17868	.	0.000000	0.85682	D	0.000000	T	0.46229	0.1382	H	0.94462	3.54	0.53688	D	0.999979	D	0.58620	0.983	P	0.52481	0.7	T	0.50725	-0.8794	10	0.87932	D	0	.	6.8383	0.23949	0.2783:0.7217:0.0:0.0	.	126	O95626	AN32D_HUMAN	I	126	ENSP00000266594:T126I	ENSP00000266594:T126I	T	+	2	0	ANP32D	47153091	1.000000	0.71417	0.008000	0.14137	0.142000	0.21351	5.033000	0.64146	0.056000	0.16144	-0.551000	0.04211	ACC		0.448	ANP32D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370058.1	NM_012404	
DDX23	9416	broad.mit.edu	37	12	49225073	49225073	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:49225073T>C	ENST00000308025.3	-	16	2170	c.2091A>G	c.(2089-2091)ggA>ggG	p.G697G		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	697	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)	p.G697G(1)		NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CCTGGCCTTTTCCACCGTGCA	0.512																																					p.G697G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2091G	12						.						165.0	144.0	151.0					12																	49225073		2203	4300	6503	47511340	SO:0001819	synonymous_variant	9416	exon16			AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"""DEAD-boxes"""	17347	protein-coding gene	gene with protein product		612172	"""PRP28 homolog, yeast"""			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.2091A>G	12.37:g.49225073T>C			47511340	NM_004818	B2R600|B4DH15|O43188	Silent	SNP	ENST00000308025.3	37	CCDS8770.1																																																																																				0.512	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818	
KMT2D	8085	broad.mit.edu	37	12	49435971	49435971	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:49435971G>A	ENST00000301067.7	-	28	6009	c.6010C>T	c.(6010-6012)Cag>Tag	p.Q2004*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2004					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q1734*(1)|p.Q2004*(1)									TCCCAGCGCTGAAGACTCCGC	0.597																																					p.Q2004X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C6010T	12						.						42.0	44.0	43.0					12																	49435971		2082	4201	6283	47722238	SO:0001587	stop_gained	8085	exon28			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.6010C>T	12.37:g.49435971G>A	ENSP00000301067:p.Gln2004*		47722238	NM_003482	O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	46	12.464466	0.99670	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.34	5.34	0.76211	.	0.000000	0.36374	N	0.002638	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.1988	0.89831	0.0:0.0:1.0:0.0	.	.	.	.	X	2004	.	ENSP00000301067:Q2004X	Q	-	1	0	MLL2	47722238	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.842000	0.99487	2.686000	0.91538	0.561000	0.74099	CAG		0.597	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		
PRPH	5630	broad.mit.edu	37	12	49690678	49690678	+	Nonsense_Mutation	SNP	C	C	T	rs559134311		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:49690678C>T	ENST00000257860.4	+	4	2208	c.709C>T	c.(709-711)Cga>Tga	p.R237*	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P23942	PRPH2_HUMAN	peripherin	0					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.R237*(1)		kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						GTAGGAGCTGCGAGACCTGCA	0.637											OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0	0.0	5008	,	,		17594	0.001		0.0	False		,,,				2504	0.0				p.R237X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C709T	12						.						22.0	22.0	22.0					12																	49690678		2203	4299	6502	47976945	SO:0001587	stop_gained	5630	exon4				CCDS8783.1	12q12-q13	2013-01-16						"""Intermediate filaments type III"""	9461	protein-coding gene	gene with protein product		170710		NEF4		1378416	Standard	XM_005269025		Approved	PRPH1	uc001rtu.3	P41219		ENST00000257860.4:c.709C>T	12.37:g.49690678C>T	ENSP00000257860:p.Arg237*	964	47976945	NM_006262	Q5TFH5|Q6DK65	Nonsense_Mutation	SNP	ENST00000257860.4	37	CCDS8783.1	.	.	.	.	.	.	.	.	.	.	C	49	15.759613	0.99844	.	.	ENSG00000135406	ENST00000257860	.	.	.	5.95	3.92	0.45320	.	0.000000	0.32719	N	0.005725	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6068	0.62052	0.4166:0.5834:0.0:0.0	.	.	.	.	X	237	.	ENSP00000257860:R237X	R	+	1	2	PRPH	47976945	0.996000	0.38824	0.988000	0.46212	0.976000	0.68499	2.426000	0.44731	1.475000	0.48197	0.655000	0.94253	CGA		0.637	PRPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393381.1	NM_006262	
TROAP	10024	broad.mit.edu	37	12	49724274	49724274	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:49724274C>A	ENST00000257909.3	+	13	1722	c.1646C>A	c.(1645-1647)cCt>cAt	p.P549H	TROAP_ENST00000551245.1_Missense_Mutation_p.P549H|TROAP_ENST00000547923.1_Missense_Mutation_p.P257H	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	549	4 X 33 AA approximate tandem repeats.|Cys-rich.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)		p.P549H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GAGCCCTACCCTCCAGCAGAA	0.622																																					p.P549H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1646A	12						.						54.0	56.0	55.0					12																	49724274		2203	4300	6503	48010541	SO:0001583	missense	10024	exon13			U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.1646C>A	12.37:g.49724274C>A	ENSP00000257909:p.Pro549His		48010541	NM_005480	F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	ENST00000257909.3	37	CCDS8784.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.765905	0.49574	.	.	ENSG00000135451	ENST00000551245;ENST00000257909;ENST00000547923	.	.	.	3.91	2.98	0.34508	.	.	.	.	.	T	0.47857	0.1468	N	0.22421	0.69	0.09310	N	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.68353	0.957;0.957;0.957	T	0.37820	-0.9689	8	0.87932	D	0	.	11.2766	0.49170	0.0:0.8125:0.1875:0.0	.	549;257;549	F8W130;F8W1U0;Q12815	.;.;TROAP_HUMAN	H	549;549;257	.	ENSP00000257909:P549H	P	+	2	0	TROAP	48010541	0.021000	0.18746	0.078000	0.20375	0.236000	0.25371	0.950000	0.29122	0.697000	0.31718	0.313000	0.20887	CCT		0.622	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480	
SCN8A	6334	broad.mit.edu	37	12	52180433	52180433	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:52180433G>A	ENST00000354534.6	+	22	4228	c.4050G>A	c.(4048-4050)gcG>gcA	p.A1350A	SCN8A_ENST00000545061.1_Silent_p.A1309A	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1350					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)	p.A1350A(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	ACTTGTTTGCGGGAAAGTACC	0.433																																					p.A1350A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G4050A	12						.						89.0	93.0	92.0					12																	52180433		2089	4240	6329	50466700	SO:0001819	synonymous_variant	6334	exon22			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.4050G>A	12.37:g.52180433G>A			50466700	NM_014191	B9VWG8|O95788|Q9NYX2|Q9UPB2	Silent	SNP	ENST00000354534.6	37	CCDS44891.1																																																																																				0.433	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191	
KRT1	3848	broad.mit.edu	37	12	53074034	53074034	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:53074034G>A	ENST00000252244.3	-	1	157	c.99C>T	c.(97-99)agC>agT	p.S33S		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	33	Gly/Phe/Ser-rich.|Head.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)	p.S33S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						GTGTGGAGCTGCTGGTGGTCC	0.577																																					p.S33S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C99T	12						.						74.0	79.0	78.0					12																	53074034		2203	4300	6503	51360301	SO:0001819	synonymous_variant	3848	exon1			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.99C>T	12.37:g.53074034G>A			51360301	NM_006121	B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Silent	SNP	ENST00000252244.3	37	CCDS8836.1																																																																																				0.577	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121	
MFSD5	84975	broad.mit.edu	37	12	53647137	53647137	+	Missense_Mutation	SNP	G	G	A	rs370069764		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:53647137G>A	ENST00000329548.4	+	2	709	c.518G>A	c.(517-519)cGa>cAa	p.R173Q	MFSD5_ENST00000534842.1_Missense_Mutation_p.R280Q	NM_032889.4	NP_116278.3	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	173					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R173Q(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						ACCTTTGCTCGAGCTGCCTTC	0.597																																					p.R173Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G518A	12						.	G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	162.0	160.0	161.0		839,518	4.6	1.0	12		161	0,8600		0,0,4300	no	missense,missense	MFSD5	NM_001170790.1,NM_032889.4	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	280/558,173/451	53647137	1,13005	2203	4300	6503	51933404	SO:0001583	missense	84975	exon2			AK097576	CCDS8851.1, CCDS53796.1	12q13.13	2012-03-09			ENSG00000182544	ENSG00000182544			28156	protein-coding gene	gene with protein product							Standard	NM_032889		Approved	MGC11308	uc001sch.2	Q6N075	OTTHUMG00000170028	ENST00000329548.4:c.518G>A	12.37:g.53647137G>A	ENSP00000332624:p.Arg173Gln		51933404	NM_032889	G3V1N7|Q6NW04|Q8N7W8|Q8NCK0|Q96IA5	Missense_Mutation	SNP	ENST00000329548.4	37	CCDS8851.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.597199	0.46318	2.27E-4	0.0	ENSG00000182544	ENST00000551660;ENST00000534842;ENST00000328704;ENST00000329548	T;T	0.80909	-1.43;-1.43	4.56	4.56	0.56223	Major facilitator superfamily domain, general substrate transporter (1);	0.151528	0.44285	D	0.000464	T	0.59224	0.2178	N	0.16743	0.435	0.39877	D	0.973586	P;P	0.50066	0.855;0.931	B;B	0.34536	0.136;0.185	T	0.61792	-0.6990	10	0.19590	T	0.45	-0.1737	10.5101	0.44857	0.0935:0.0:0.9065:0.0	.	173;280	Q6N075;G3V1N7	MFSD5_HUMAN;.	Q	280;280;280;173	ENSP00000442688:R280Q;ENSP00000332624:R173Q	ENSP00000331231:R280Q	R	+	2	0	MFSD5	51933404	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.253000	0.51469	2.375000	0.81037	0.561000	0.74099	CGA		0.597	MFSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406896.1	NM_032889	
ESPL1	9700	broad.mit.edu	37	12	53670489	53670489	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:53670489C>T	ENST00000257934.4	+	8	1877	c.1786C>T	c.(1786-1788)Cgg>Tgg	p.R596W	ESPL1_ENST00000552462.1_Missense_Mutation_p.R596W	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	596					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)	p.R596W(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CAAGGCGGTGCGGGCCGACAC	0.667																																					p.R596W	Colon(53;1069 1201 2587 5382)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1786T	12						.						38.0	39.0	39.0					12																	53670489		2203	4300	6503	51956756	SO:0001583	missense	9700	exon8			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.1786C>T	12.37:g.53670489C>T	ENSP00000257934:p.Arg596Trp		51956756	NM_012291		Missense_Mutation	SNP	ENST00000257934.4	37	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.938704	0.34189	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.14391	2.51;2.51	5.39	3.52	0.40303	.	0.397064	0.26757	N	0.022655	T	0.33352	0.0860	M	0.70595	2.14	0.09310	N	1	D	0.89917	1.0	D	0.64687	0.928	T	0.11891	-1.0569	10	0.72032	D	0.01	.	13.4872	0.61373	0.2852:0.7148:0.0:0.0	.	596	Q14674	ESPL1_HUMAN	W	596;271;596	ENSP00000257934:R596W;ENSP00000449831:R596W	ENSP00000257934:R596W	R	+	1	2	ESPL1	51956756	0.348000	0.24861	0.982000	0.44146	0.022000	0.10575	0.872000	0.28037	0.796000	0.33947	-0.182000	0.12963	CGG		0.667	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291	
PFDN5	5204	broad.mit.edu	37	12	53691676	53691676	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:53691676A>G	ENST00000551018.1	+	4	527	c.250A>G	c.(250-252)Atc>Gtc	p.I84V	PFDN5_ENST00000334478.4_Missense_Mutation_p.I84V|RP11-680A11.5_ENST00000550263.1_RNA|C12orf10_ENST00000549488.1_5'Flank|PFDN5_ENST00000550846.1_Intron|C12orf10_ENST00000267103.5_5'Flank|C12orf10_ENST00000548632.1_5'Flank|PFDN5_ENST00000351500.3_Missense_Mutation_p.I39V	NM_002624.3	NP_002615.2	Q99471	PFD5_HUMAN	prefoldin subunit 5	84					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	transcription corepressor activity (GO:0003714)	p.I84V(1)		kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)	8						ACACGTGCTCATCGATGTGGG	0.512																																					p.I39V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A115G	12						.						187.0	172.0	177.0					12																	53691676		2203	4300	6503	51977943	SO:0001583	missense	5204	exon2			D89667	CCDS8853.1, CCDS8854.1	12q13.13	2008-05-14	2006-02-24						8869	protein-coding gene	gene with protein product		604899	"""prefoldin 5"""			9630229, 9792694	Standard	NM_002624		Approved	PFD5, MM-1	uc001scl.3	Q99471	OTTHUMG00000169675	ENST00000551018.1:c.250A>G	12.37:g.53691676A>G	ENSP00000447942:p.Ile84Val		51977943	NM_145897	A8K9A8|Q54AA8|Q9C083|Q9C084	Missense_Mutation	SNP	ENST00000551018.1	37	CCDS8853.1	.	.	.	.	.	.	.	.	.	.	A	9.952	1.220374	0.22457	.	.	ENSG00000123349	ENST00000551018;ENST00000351500;ENST00000334478	T;T;T	0.29142	1.58;1.58;1.58	5.3	5.3	0.74995	Prefoldin (1);Prefoldin subunit (1);	0.049292	0.85682	D	0.000000	T	0.11879	0.0289	N	0.02334	-0.595	0.46113	D	0.998876	B;B	0.18013	0.004;0.025	B;B	0.19391	0.017;0.025	T	0.13953	-1.0490	10	0.02654	T	1	.	13.5039	0.61474	1.0:0.0:0.0:0.0	.	39;84	Q9C083;Q99471	.;PFD5_HUMAN	V	84;39;84	ENSP00000447942:I84V;ENSP00000266964:I39V;ENSP00000334188:I84V	ENSP00000334188:I84V	I	+	1	0	PFDN5	51977943	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.104000	0.50306	2.146000	0.66826	0.459000	0.35465	ATC		0.512	PFDN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405368.2		
LACRT	90070	broad.mit.edu	37	12	55026100	55026100	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:55026100C>T	ENST00000257867.4	-	3	231	c.178G>A	c.(178-180)Gcc>Acc	p.A60T	LACRT_ENST00000547511.1_Missense_Mutation_p.A60T	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN	lacritin	60					calcineurin-NFAT signaling cascade (GO:0033173)|calcium-mediated signaling (GO:0019722)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of secretion (GO:0051047)|protein localization to Golgi apparatus (GO:0034067)|tear secretion (GO:0070075)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|growth factor activity (GO:0008083)|laminin-1 binding (GO:0043237)|protein N-terminus binding (GO:0047485)	p.A60T(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						GTCTCCTGGGCTGTTGTGGTT	0.512																																					p.A60T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G178A	12						.						161.0	152.0	155.0					12																	55026100		2203	4300	6503	53312367	SO:0001583	missense	90070	exon3			AF238867	CCDS8883.1	12q13.2	2014-06-13			ENSG00000135413				16430	protein-coding gene	gene with protein product		607360				11419941	Standard	NM_033277		Approved	LACRITIN	uc001sgi.1	Q9GZZ8	OTTHUMG00000169936	ENST00000257867.4:c.178G>A	12.37:g.55026100C>T	ENSP00000257867:p.Ala60Thr		53312367	NM_033277		Missense_Mutation	SNP	ENST00000257867.4	37	CCDS8883.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.609782	0.28623	.	.	ENSG00000135413	ENST00000546721;ENST00000547511;ENST00000257867	.	.	.	2.56	-2.19	0.07015	.	.	.	.	.	T	0.20047	0.0482	N	0.14661	0.345	0.09310	N	1	B	0.30068	0.267	B	0.36418	0.224	T	0.31336	-0.9947	8	0.87932	D	0	.	2.7749	0.05345	0.2195:0.2813:0.0:0.4991	.	60	Q9GZZ8	LACRT_HUMAN	T	30;60;60	.	ENSP00000257867:A60T	A	-	1	0	LACRT	53312367	0.031000	0.19500	0.001000	0.08648	0.096000	0.18686	-0.152000	0.10159	-0.566000	0.06054	0.462000	0.41574	GCC		0.512	LACRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406615.1	NM_033277	
TESPA1	9840	broad.mit.edu	37	12	55359872	55359872	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:55359872G>A	ENST00000449076.1	-	7	543	c.411C>T	c.(409-411)agC>agT	p.S137S	TESPA1_ENST00000531122.1_5'UTR|TESPA1_ENST00000524959.1_Intron|TESPA1_ENST00000316577.8_Silent_p.S137S|TESPA1_ENST00000524622.1_5'UTR|TESPA1_ENST00000532804.1_5'UTR	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	137					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.S137S(1)									CAGTCATGCTGCTGGAAGCCA	0.493																																					p.S137S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C411T	12						.						62.0	61.0	61.0					12																	55359872		1941	4139	6080	53646139	SO:0001819	synonymous_variant	9840	exon7			AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"""KIAA0748"""	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.411C>T	12.37:g.55359872G>A			53646139	NM_001098815	B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Silent	SNP	ENST00000449076.1	37	CCDS44913.1																																																																																				0.493	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1	NM_001098815	
NEUROD4	58158	broad.mit.edu	37	12	55420719	55420719	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:55420719A>G	ENST00000242994.3	+	2	874	c.496A>G	c.(496-498)Aca>Gca	p.T166A		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	166					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.T166A(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						CTCTCAGCCCACAAGCAACCT	0.517																																					p.T166A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A496G	12						.						53.0	56.0	55.0					12																	55420719		2203	4300	6503	53706986	SO:0001583	missense	58158	exon2			AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"""Basic helix-loop-helix proteins"""	13802	protein-coding gene	gene with protein product		611635	"""neurogenic differentiation 4"""				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.496A>G	12.37:g.55420719A>G	ENSP00000242994:p.Thr166Ala		53706986	NM_021191	B2RAC9	Missense_Mutation	SNP	ENST00000242994.3	37	CCDS8886.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.263543	0.80358	.	.	ENSG00000123307	ENST00000242994	D	0.83163	-1.69	5.56	5.56	0.83823	Neurogenic differentiation factor, domain of unknown function (1);Helix-loop-helix DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.91246	0.7241	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92409	0.5936	10	0.87932	D	0	-0.0045	13.9736	0.64257	1.0:0.0:0.0:0.0	.	166	Q9HD90	NDF4_HUMAN	A	166	ENSP00000242994:T166A	ENSP00000242994:T166A	T	+	1	0	NEUROD4	53706986	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.239000	0.73571	0.533000	0.62120	ACA		0.517	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406104.1		
RPS26	6231	broad.mit.edu	37	12	56437178	56437178	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:56437178A>G	ENST00000356464.5	+	3	527	c.213A>G	c.(211-213)ctA>ctG	p.L71L	RP11-603J24.4_ENST00000551846.1_RNA|RPS26_ENST00000552361.1_Silent_p.L71L			P62854	RS26_HUMAN	ribosomal protein S26	71					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of RNA splicing (GO:0033119)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|small ribosomal subunit (GO:0015935)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.L71L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7			OV - Ovarian serous cystadenocarcinoma(18;0.123)			ATGTGAAGCTACATTACTGTG	0.438																																					p.L71L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A213G	12						.						93.0	86.0	88.0					12																	56437178		2203	4300	6503	54723445	SO:0001819	synonymous_variant	6231	exon3			AB007160	CCDS31832.1	12q13	2011-04-06				ENSG00000197728		"""S ribosomal proteins"""	10414	protein-coding gene	gene with protein product	"""40S ribosomal protein S26"""	603701				9582194, 8670309	Standard	NM_001029		Approved	S26	uc001sjf.3	P62854	OTTHUMG00000170139	ENST00000356464.5:c.213A>G	12.37:g.56437178A>G			54723445	NM_001029	P02383|P70394|Q06722|Q3MHD8|Q6IRY4	Silent	SNP	ENST00000356464.5	37	CCDS31832.1																																																																																				0.438	RPS26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407616.1	NM_001029	
ERBB3	2065	broad.mit.edu	37	12	56493751	56493751	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:56493751G>A	ENST00000267101.3	+	25	3507	c.3067G>A	c.(3067-3069)Gca>Aca	p.A1023T	ERBB3_ENST00000450146.2_Missense_Mutation_p.A380T|ERBB3_ENST00000415288.2_Missense_Mutation_p.A964T|ERBB3_ENST00000549832.1_Missense_Mutation_p.A143T|ERBB3_ENST00000553131.1_Missense_Mutation_p.A264T|RP11-603J24.9_ENST00000548861.1_5'Flank	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1023					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)	p.A1023T(1)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GGACAACCTGGCAACCACCAC	0.537																																					p.A1023T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3067A	12						.						122.0	128.0	126.0					12																	56493751		2203	4300	6503	54780018	SO:0001583	missense	2065	exon25			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.3067G>A	12.37:g.56493751G>A	ENSP00000267101:p.Ala1023Thr		54780018	NM_001982	A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	G	7.487	0.649942	0.14516	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000550070;ENST00000553131;ENST00000549832	T;T;T;T;T	0.78364	-1.05;-0.94;-1.04;-1.17;-0.9	5.65	4.76	0.60689	.	0.346769	0.24949	N	0.034302	T	0.58104	0.2099	N	0.14661	0.345	0.29195	N	0.875629	B;B;B	0.21309	0.054;0.003;0.019	B;B;B	0.17722	0.019;0.003;0.012	T	0.49031	-0.8981	10	0.17369	T	0.5	.	8.6642	0.34110	0.1662:0.0:0.8338:0.0	.	964;143;1023	P21860-4;B3KWG5;P21860	.;.;ERBB3_HUMAN	T	1023;380;964;146;264;143	ENSP00000267101:A1023T;ENSP00000399178:A380T;ENSP00000408340:A964T;ENSP00000449129:A264T;ENSP00000448729:A143T	ENSP00000267101:A1023T	A	+	1	0	ERBB3	54780018	0.735000	0.28153	0.822000	0.32727	0.405000	0.30901	1.437000	0.34991	1.633000	0.50488	-0.137000	0.14449	GCA		0.537	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3		
NACA	4666	broad.mit.edu	37	12	57113356	57113356	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:57113356G>A	ENST00000454682.1	-	3	2239	c.1958C>T	c.(1957-1959)gCt>gTt	p.A653V	NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.A610V|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	653	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A653V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGCAGGGTCAGCACTTTCCAA	0.488			T	BCL6	NHL																																p.A653V			Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1958T	12						.						41.0	39.0	40.0					12																	57113356		1568	3582	5150	55399623	SO:0001583	missense	4666	exon3			X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.1958C>T	12.37:g.57113356G>A	ENSP00000403817:p.Ala653Val		55399623	NM_001113203		Missense_Mutation	SNP	ENST00000454682.1	37		.	.	.	.	.	.	.	.	.	.	G	15.07	2.723931	0.48728	.	.	ENSG00000196531	ENST00000550920;ENST00000454682;ENST00000550952	T;T;T	0.52983	0.9;0.64;0.71	3.31	0.0906	0.14464	.	.	.	.	.	T	0.21468	0.0517	N	0.08118	0	0.09310	N	1	P;P	0.38922	0.651;0.642	B;B	0.33196	0.159;0.141	T	0.09596	-1.0667	9	0.49607	T	0.09	.	4.9497	0.14008	0.134:0.4052:0.4609:0.0	.	653;610	E9PAV3;F8VU71	.;.	V	10;653;610	ENSP00000448039:A10V;ENSP00000403817:A653V;ENSP00000448035:A610V	ENSP00000403817:A653V	A	-	2	0	NACA	55399623	0.000000	0.05858	0.000000	0.03702	0.557000	0.35523	0.574000	0.23714	-0.279000	0.09167	0.449000	0.29647	GCT		0.488	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594	
RDH16	8608	broad.mit.edu	37	12	57345928	57345928	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:57345928C>T	ENST00000398138.3	-	4	1695	c.839G>A	c.(838-840)cGc>cAc	p.R280H	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	280					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	electron carrier activity (GO:0009055)|retinol dehydrogenase activity (GO:0004745)	p.R280H(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						AGCTGAGTAGCGAGTACGGGG	0.552																																					p.R280H	GBM(179;741 2921 43105 45298)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G839A	12						.						89.0	101.0	97.0					12																	57345928		2122	4245	6367	55632195	SO:0001583	missense	8608	exon4				CCDS41797.1	12q13.3	2011-09-14	2006-05-09			ENSG00000139547		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	29674	protein-coding gene	gene with protein product	"""microsomal NAD+ dependent retinol dehydrogenase 4"", ""short chain dehydrogenase/reductase family 9C, member 8"""		"""retinol dehydrogenase 16 (all-trans and 13-cis)"""			9677409, 10329026, 19027726	Standard	NM_003708		Approved	RODH-4, SDR9C8	uc001smi.4	O75452		ENST00000398138.3:c.839G>A	12.37:g.57345928C>T	ENSP00000381206:p.Arg280His		55632195	NM_003708	Q9UNV2	Missense_Mutation	SNP	ENST00000398138.3	37	CCDS41797.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.616275	0.66672	.	.	ENSG00000139547	ENST00000398138	D	0.91996	-2.95	5.04	3.23	0.37069	NAD(P)-binding domain (1);	0.097576	0.43747	D	0.000523	D	0.94948	0.8366	M	0.85859	2.78	0.48185	D	0.999601	D;D	0.69078	0.997;0.976	P;P	0.59487	0.858;0.468	D	0.94158	0.7412	10	0.54805	T	0.06	.	11.3251	0.49444	0.0:0.847:0.0:0.153	.	156;280	Q59FX7;O75452	.;RDH16_HUMAN	H	280	ENSP00000381206:R280H	ENSP00000353980:R156H	R	-	2	0	RDH16	55632195	0.998000	0.40836	0.241000	0.24154	0.852000	0.48524	3.758000	0.55220	0.706000	0.31912	-0.347000	0.07816	CGC		0.552	RDH16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410898.1	NM_003708	
ZBTB39	9880	broad.mit.edu	37	12	57397795	57397795	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:57397795C>T	ENST00000300101.2	-	2	992	c.907G>A	c.(907-909)Gac>Aac	p.D303N		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	303					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.D303N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						AACTGCAAGTCATCATCCCCC	0.512																																					p.D303N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G907A	12						.						188.0	174.0	179.0					12																	57397795		2203	4300	6503	55684062	SO:0001583	missense	9880	exon2			AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.907G>A	12.37:g.57397795C>T	ENSP00000300101:p.Asp303Asn		55684062	NM_014830	A7MD38|Q9UD98	Missense_Mutation	SNP	ENST00000300101.2	37	CCDS31839.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.707027	0.30232	.	.	ENSG00000166860	ENST00000300101	T	0.09538	2.97	4.9	4.9	0.64082	.	0.275088	0.34652	N	0.003800	T	0.10078	0.0247	N	0.19112	0.55	0.42021	D	0.99098	B	0.29531	0.247	B	0.33568	0.166	T	0.18147	-1.0346	10	0.72032	D	0.01	-7.8114	15.6413	0.77006	0.0:1.0:0.0:0.0	.	303	O15060	ZBT39_HUMAN	N	303	ENSP00000300101:D303N	ENSP00000300101:D303N	D	-	1	0	ZBTB39	55684062	0.928000	0.31464	0.923000	0.36655	0.968000	0.65278	3.222000	0.51223	2.547000	0.85894	0.655000	0.94253	GAC		0.512	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	NM_014830	
DCTN2	10540	broad.mit.edu	37	12	57927771	57927771	+	Missense_Mutation	SNP	G	G	A	rs374804015		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:57927771G>A	ENST00000548249.1	-	7	901	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W	DCTN2_ENST00000537439.1_Missense_Mutation_p.R189W|DCTN2_ENST00000551400.1_5'Flank|DCTN2_ENST00000543672.1_Missense_Mutation_p.R217W|DCTN2_ENST00000434715.3_Missense_Mutation_p.R217W	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	212					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|vesicle (GO:0031982)	motor activity (GO:0003774)|spectrin binding (GO:0030507)	p.R217W(4)		endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						TGCTCAGGCCGAGAATGTAGT	0.517																																					p.S212L												.	.	4	Substitution - Missense(4)	large_intestine(2)|lung(2)	c.C635T	12						.	G	TRP/ARG	1,3845		0,1,1922	116.0	120.0	119.0		649	4.3	1.0	12		119	0,8242		0,0,4121	no	missense	DCTN2	NM_006400.3	101	0,1,6043	AA,AG,GG		0.0,0.026,0.0083	probably-damaging	217/407	57927771	1,12087	1923	4121	6044	56214038	SO:0001583	missense	10540	exon7			U50733	CCDS44930.1, CCDS58245.1, CCDS73489.1	12q13.3	2008-05-14				ENSG00000175203			2712	protein-coding gene	gene with protein product		607376				8647893	Standard	NM_001261412		Approved	RBP50, DCTN-50	uc001som.2	Q13561	OTTHUMG00000170124	ENST00000548249.1:c.634C>T	12.37:g.57927771G>A	ENSP00000447824:p.Arg212Trp		56214038	NM_006400	B2RBK5|Q86YN2|Q9BW17	Missense_Mutation	SNP	ENST00000548249.1	37	CCDS58245.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091969	0.76756	2.6E-4	0.0	ENSG00000175203	ENST00000548249;ENST00000434715;ENST00000543672;ENST00000537439;ENST00000354743;ENST00000543105;ENST00000546758;ENST00000550954	.	.	.	5.21	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.75421	0.3847	M	0.72118	2.19	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	P;D;D	0.65773	0.897;0.923;0.938	T	0.78526	-0.2170	9	0.66056	D	0.02	-10.1649	13.0093	0.58722	0.0788:0.0:0.9212:0.0	.	212;217;212	F8WAG8;F5H2S7;Q13561	.;.;DCTN2_HUMAN	W	212;217;217;189;212;125;96;226	.	ENSP00000346785:R212W	R	-	1	2	DCTN2	56214038	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.002000	0.49496	1.584000	0.49913	0.655000	0.94253	CGG		0.517	DCTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407393.2	NM_006400	
ARHGEF25	115557	broad.mit.edu	37	12	58007523	58007523	+	Missense_Mutation	SNP	G	G	A	rs61935728		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:58007523G>A	ENST00000286494.4	+	5	992	c.532G>A	c.(532-534)Gac>Aac	p.D178N	ARHGEF25_ENST00000333972.7_Missense_Mutation_p.D217N|AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000610219.1_RNA|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	178	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D178N(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						GTACGTGGACGACTTGGGGCA	0.562																																					p.D217N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G649A	12						.						138.0	135.0	136.0					12																	58007523		2203	4300	6503	56293790	SO:0001583	missense	115557	exon6				CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"""Rho guanine nucleotide exchange factors"""	30275	protein-coding gene	gene with protein product	"""RAC/CDC42 exchange factor"""	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.532G>A	12.37:g.58007523G>A	ENSP00000286494:p.Asp178Asn		56293790	NM_001111270	A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Missense_Mutation	SNP	ENST00000286494.4	37	CCDS8947.1	.	.	.	.	.	.	.	.	.	.	g	36	5.601587	0.96614	.	.	ENSG00000240771	ENST00000333972;ENST00000300189;ENST00000286494	T;T	0.45276	0.9;0.9	4.72	4.72	0.59763	Dbl homology (DH) domain (5);	0.000000	0.40302	N	0.001136	T	0.71204	0.3312	M	0.90019	3.08	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.997	T	0.78986	-0.1987	10	0.87932	D	0	.	16.8298	0.85941	0.0:0.0:1.0:0.0	rs61935728	217;178;52	F8W7Z4;Q86VW2;Q96M35	.;ARHGP_HUMAN;.	N	217;52;178	ENSP00000335560:D217N;ENSP00000286494:D178N	ENSP00000286494:D178N	D	+	1	0	ARHGEF25	56293790	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	7.042000	0.76565	2.338000	0.79540	0.563000	0.77884	GAC		0.562	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1	NM_133483	
B4GALNT1	2583	broad.mit.edu	37	12	58024838	58024838	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:58024838C>A	ENST00000341156.4	-	4	999	c.415G>T	c.(415-417)Gcc>Tcc	p.A139S	B4GALNT1_ENST00000449184.3_Missense_Mutation_p.A139S|B4GALNT1_ENST00000550764.1_Missense_Mutation_p.A139S|B4GALNT1_ENST00000550943.1_5'Flank|B4GALNT1_ENST00000552350.1_Missense_Mutation_p.A139S|B4GALNT1_ENST00000418555.2_Missense_Mutation_p.A84S	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	139					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)	p.A139S(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			TTGGCAGGGGCTATGAGCAGC	0.637																																					p.A139S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G415T	12						.						52.0	55.0	54.0					12																	58024838		2203	4300	6503	56311105	SO:0001583	missense	2583	exon4			M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	4117	protein-coding gene	gene with protein product	"""GD2 synthase, GM2 synthase"""	601873	"""UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)"", ""UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1"", ""spastic paraplegia 26"""	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.415G>T	12.37:g.58024838C>A	ENSP00000341562:p.Ala139Ser		56311105	NM_001478	B4DE26|Q8N636	Missense_Mutation	SNP	ENST00000341156.4	37	CCDS8950.1	.	.	.	.	.	.	.	.	.	.	.	24.5	4.540322	0.85917	.	.	ENSG00000135454	ENST00000341156;ENST00000418555;ENST00000550764;ENST00000552350;ENST00000548888	T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4	5.17	5.17	0.71159	.	0.055425	0.64402	D	0.000001	T	0.52240	0.1722	L	0.61218	1.895	0.58432	D	0.999998	P;P;D;D	0.55605	0.865;0.787;0.972;0.97	B;B;P;P	0.55923	0.421;0.158;0.787;0.539	T	0.48801	-0.9003	10	0.44086	T	0.13	-3.2798	17.5961	0.88012	0.0:1.0:0.0:0.0	.	139;84;139;139	B4DSP5;B4DE26;Q8N636;Q00973	.;.;.;B4GN1_HUMAN	S	139;84;139;139;139	ENSP00000341562:A139S;ENSP00000401601:A84S;ENSP00000450303:A139S;ENSP00000448500:A139S;ENSP00000447945:A139S	ENSP00000341562:A139S	A	-	1	0	B4GALNT1	56311105	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.117000	0.64667	2.684000	0.91462	0.609000	0.83330	GCC		0.637	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	NM_001478	
AVIL	10677	broad.mit.edu	37	12	58197379	58197379	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:58197379A>G	ENST00000257861.3	-	14	2175	c.1745T>C	c.(1744-1746)gTg>gCg	p.V582A	RNU6-1083P_ENST00000384022.1_RNA|AVIL_ENST00000550083.1_Intron|TSFM_ENST00000548851.1_Intron|AVIL_ENST00000537081.1_Missense_Mutation_p.V575A|RP11-571M6.17_ENST00000602802.1_lincRNA	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	582	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)	p.V582A(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GCCCTCGGCCACAGTGTTCTC	0.592											OREG0021955	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.V582A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1745C	12						.						47.0	42.0	43.0					12																	58197379		2203	4300	6503	56483646	SO:0001583	missense	10677	exon14			AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.1745T>C	12.37:g.58197379A>G	ENSP00000257861:p.Val582Ala	1029	56483646	NM_006576	B2RAU7|Q2NKM9	Missense_Mutation	SNP	ENST00000257861.3	37	CCDS8959.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.554360	0.86231	.	.	ENSG00000135407	ENST00000537081;ENST00000257861	T;T	0.58060	0.36;0.36	4.86	4.86	0.63082	Gelsolin domain (1);	0.273133	0.37053	N	0.002269	T	0.70971	0.3285	M	0.84082	2.675	0.45307	D	0.998306	D;P	0.58268	0.982;0.932	P;P	0.61070	0.883;0.755	T	0.76661	-0.2877	10	0.87932	D	0	-13.2673	13.5528	0.61743	1.0:0.0:0.0:0.0	.	575;582	O75366-2;O75366	.;AVIL_HUMAN	A	575;582	ENSP00000443207:V575A;ENSP00000257861:V582A	ENSP00000257861:V582A	V	-	2	0	AVIL	56483646	0.786000	0.28738	1.000000	0.80357	0.802000	0.45316	5.922000	0.70036	2.034000	0.60081	0.459000	0.35465	GTG		0.592	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576	
AVPR1A	552	broad.mit.edu	37	12	63544481	63544481	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:63544481G>A	ENST00000299178.2	-	1	241	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	46					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)	p.R46C(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	TCCTCGTTGCGCACGTCCCTC	0.697																																					p.R46C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C136T	12						.						45.0	39.0	41.0					12																	63544481		2190	4283	6473	61830748	SO:0001583	missense	552	exon1			L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.136C>T	12.37:g.63544481G>A	ENSP00000299178:p.Arg46Cys		61830748	NM_000706		Missense_Mutation	SNP	ENST00000299178.2	37	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.383896	0.61845	.	.	ENSG00000166148	ENST00000299178	T	0.37752	1.18	5.33	3.43	0.39272	.	0.183434	0.45606	D	0.000342	T	0.56485	0.1988	M	0.86651	2.83	0.80722	D	1	D	0.71674	0.998	P	0.59487	0.858	T	0.61505	-0.7049	9	.	.	.	-23.816	9.1136	0.36744	0.0779:0.0:0.7762:0.1458	.	46	P37288	V1AR_HUMAN	C	46	ENSP00000299178:R46C	.	R	-	1	0	AVPR1A	61830748	1.000000	0.71417	0.906000	0.35671	0.227000	0.25037	6.485000	0.73625	1.250000	0.43966	0.561000	0.74099	CGC		0.697	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1		
XPOT	11260	broad.mit.edu	37	12	64814244	64814244	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:64814244A>G	ENST00000332707.5	+	8	1315	c.786A>G	c.(784-786)aaA>aaG	p.K262K		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	262	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)	p.K262K(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		ATAAAATGAAACTAGTGGAAT	0.343																																					p.K262K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A786G	12						.						98.0	104.0	102.0					12																	64814244		2203	4300	6503	63100511	SO:0001819	synonymous_variant	11260	exon8			AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.786A>G	12.37:g.64814244A>G			63100511	NM_007235	A6NLH1|O43784|Q8WUG2|Q9BVS7	Silent	SNP	ENST00000332707.5	37	CCDS31852.1																																																																																				0.343	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235	
TBK1	29110	broad.mit.edu	37	12	64878256	64878256	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:64878256C>T	ENST00000331710.5	+	9	1505	c.1166C>T	c.(1165-1167)aCc>aTc	p.T389I		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	389					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.T389I(2)		breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		CCTCTGAATACCATAGGATTA	0.413																																					p.T389I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1166T	12						.						49.0	52.0	51.0					12																	64878256		2203	4300	6503	63164523	SO:0001583	missense	29110	exon9			AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.1166C>T	12.37:g.64878256C>T	ENSP00000329967:p.Thr389Ile		63164523	NM_013254	A8K4S4|Q8IYV3|Q9NUJ5	Missense_Mutation	SNP	ENST00000331710.5	37	CCDS8968.1	.	.	.	.	.	.	.	.	.	.	C	7.690	0.690805	0.15039	.	.	ENSG00000183735	ENST00000331710	T	0.65732	-0.17	5.07	4.17	0.49024	.	0.314464	0.38111	N	0.001814	T	0.39809	0.1092	N	0.17082	0.46	0.33380	D	0.574758	B	0.02656	0.0	B	0.04013	0.001	T	0.42378	-0.9455	9	.	.	.	-0.1218	6.5429	0.22390	0.0:0.6832:0.0:0.3168	.	389	Q9UHD2	TBK1_HUMAN	I	389	ENSP00000329967:T389I	.	T	+	2	0	TBK1	63164523	0.015000	0.18098	0.404000	0.26397	0.545000	0.35147	0.846000	0.27682	1.447000	0.47661	0.563000	0.77884	ACC		0.413	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401130.1	NM_013254	
LEMD3	23592	broad.mit.edu	37	12	65564628	65564628	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:65564628G>A	ENST00000308330.2	+	1	1278	c.1252G>A	c.(1252-1254)Gcc>Acc	p.A418T	LEMD3_ENST00000541171.1_Intron	NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	418					negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)	p.A418T(1)		breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		GGCGGTGGCCGCCTCTAGTTC	0.507																																					p.A418T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1252A	12						.						69.0	74.0	72.0					12																	65564628		2203	4300	6503	63850895	SO:0001583	missense	23592	exon1			AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.1252G>A	12.37:g.65564628G>A	ENSP00000308369:p.Ala418Thr		63850895	NM_014319	Q9NT47|Q9NYA5	Missense_Mutation	SNP	ENST00000308330.2	37	CCDS8972.1	.	.	.	.	.	.	.	.	.	.	G	8.111	0.778847	0.16120	.	.	ENSG00000174106	ENST00000308330	T	0.43688	0.94	4.1	1.18	0.20946	.	0.748378	0.12159	N	0.494146	T	0.20577	0.0495	N	0.14661	0.345	0.27060	N	0.963562	B	0.06786	0.001	B	0.04013	0.001	T	0.21518	-1.0243	9	.	.	.	-1.0009	3.9616	0.09413	0.4242:0.1806:0.3953:0.0	.	418	Q9Y2U8	MAN1_HUMAN	T	418	ENSP00000308369:A418T	.	A	+	1	0	LEMD3	63850895	0.089000	0.21612	0.807000	0.32361	0.834000	0.47266	0.669000	0.25142	0.263000	0.21812	0.462000	0.41574	GCC		0.507	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401312.2		
CPM	1368	broad.mit.edu	37	12	69260795	69260795	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:69260795T>C	ENST00000551568.1	-	7	881	c.821A>G	c.(820-822)cAg>cGg	p.Q274R	CPM_ENST00000338356.3_Missense_Mutation_p.Q274R|CPM_ENST00000546373.1_Missense_Mutation_p.Q274R	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	274					anatomical structure morphogenesis (GO:0009653)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.Q274R(1)		large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TTCAAAACACTGGGCCCAGAT	0.383																																					p.Q274R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A821G	12						.						107.0	103.0	104.0					12																	69260795		2203	4300	6503	67547062	SO:0001583	missense	1368	exon7			AF368463	CCDS8987.1	12q15	2012-02-10			ENSG00000135678	ENSG00000135678	3.4.17.12		2311	protein-coding gene	gene with protein product	"""renal carboxypeptidase"", ""urinary carboxypeptidase B"""	114860				8586455	Standard	NM_001874		Approved		uc001suq.3	P14384	OTTHUMG00000169300	ENST00000551568.1:c.821A>G	12.37:g.69260795T>C	ENSP00000448517:p.Gln274Arg		67547062	NM_198320	B2R800|Q9H2K9	Missense_Mutation	SNP	ENST00000551568.1	37	CCDS8987.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.4|27.4	4.829787|4.829787	0.91036|0.91036	.|.	.|.	ENSG00000135678|ENSG00000135678	ENST00000551568;ENST00000338356;ENST00000546373|ENST00000551897	T;T;T|.	0.03181|.	4.02;4.02;4.02|.	5.54|5.54	5.54|5.54	0.83059|0.83059	Peptidase M14, carboxypeptidase A (2);|.	0.099985|.	0.64402|.	D|.	0.000001|.	T|T	0.69495|0.69495	0.3117|0.3117	L|L	0.54323|0.54323	1.7|1.7	0.58432|0.58432	D|D	0.999998|0.999998	P|.	0.48407|.	0.91|.	P|.	0.55749|.	0.783|.	T|T	0.67484|0.67484	-0.5659|-0.5659	9|5	.|.	.|.	.|.	-18.5453|-18.5453	15.9925|15.9925	0.80217|0.80217	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	274|.	P14384|.	CBPM_HUMAN|.	R|G	274|77	ENSP00000448517:Q274R;ENSP00000339157:Q274R;ENSP00000447255:Q274R|.	.|.	Q|S	-|-	2|1	0|0	CPM|CPM	67547062|67547062	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.880000|7.880000	0.87243|0.87243	2.240000|2.240000	0.73641|0.73641	0.533000|0.533000	0.62120|0.62120	CAG|AGT		0.383	CPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403355.1	NM_198320	
CPSF6	11052	broad.mit.edu	37	12	69644945	69644945	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:69644945T>C	ENST00000435070.2	+	2	207	c.97T>C	c.(97-99)Tat>Cat	p.Y33H	CPSF6_ENST00000266679.8_Missense_Mutation_p.Y33H|CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000456847.3_Missense_Mutation_p.Y33H|CPSF6_ENST00000550987.1_3'UTR	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	33					mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Y33H(2)		endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			GATAGATTTGTATGACGATGT	0.383																																					p.Y33H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T97C	12						.						77.0	72.0	73.0					12																	69644945		2203	4300	6503	67931212	SO:0001583	missense	11052	exon2			X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"""RNA binding motif (RRM) containing"""	13871	protein-coding gene	gene with protein product	"""cleavage factor Im complex 68 kDa subunit"""	604979	"""cleavage and polyadenylation specific factor 6, 68kD subunit"""			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.97T>C	12.37:g.69644945T>C	ENSP00000391774:p.Tyr33His		67931212	NM_007007	A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	ENST00000435070.2	37	CCDS8988.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.431279	0.83776	.	.	ENSG00000111605	ENST00000435070;ENST00000456847;ENST00000266679	.	.	.	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.77778	0.4181	M	0.73598	2.24	0.80722	D	1	D;D	0.69078	0.997;0.984	D;D	0.75484	0.986;0.969	T	0.79150	-0.1922	8	.	.	.	-7.1923	14.9304	0.70911	0.0:0.0:0.0:1.0	.	33;33	Q16630-2;Q16630	.;CPSF6_HUMAN	H	33	.	.	Y	+	1	0	CPSF6	67931212	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.649000	0.83500	2.068000	0.61886	0.460000	0.39030	TAT		0.383	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1	NM_007007	
TBC1D15	64786	broad.mit.edu	37	12	72316795	72316795	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:72316795G>A	ENST00000550746.1	+	18	1951	c.1887G>A	c.(1885-1887)ggG>ggA	p.G629G	TBC1D15_ENST00000393309.3_Silent_p.G383G|TBC1D15_ENST00000319106.8_Silent_p.G620G|TBC1D15_ENST00000485960.2_Silent_p.G612G	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	629					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)	p.G629G(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGATCCTTGGGCTTCAAGGCA	0.398																																					p.G620G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1860A	12						.						173.0	146.0	155.0					12																	72316795		2203	4300	6503	70603062	SO:0001819	synonymous_variant	64786	exon18			AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.1887G>A	12.37:g.72316795G>A			70603062	NM_001146214	B4DMT9|B9A6L6|J3KNI9|Q9HA83	Silent	SNP	ENST00000550746.1	37	CCDS31858.1																																																																																				0.398	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2	NM_022771	
BBS10	79738	broad.mit.edu	37	12	76740535	76740535	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:76740535A>G	ENST00000393262.3	-	2	1313	c.1230T>C	c.(1228-1230)caT>caC	p.H410H		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	410			H -> Q (in BBS10). {ECO:0000269|PubMed:21344540}.		cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)	p.H410H(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						AAGCATCCTCATGTTGTTCAA	0.373									Bardet-Biedl syndrome																												p.H410H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1230C	12						.						91.0	86.0	88.0					12																	76740535		2203	4300	6503	75264666	SO:0001819	synonymous_variant	79738	exon2	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"""Heat Shock Proteins / Chaperonins"""	26291	protein-coding gene	gene with protein product		610148	"""chromosome 12 open reading frame 58"""	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.1230T>C	12.37:g.76740535A>G			75264666	NM_024685	Q96CW2|Q9H5D2	Silent	SNP	ENST00000393262.3	37	CCDS9014.2																																																																																				0.373	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303983.2	NM_024685	
E2F7	144455	broad.mit.edu	37	12	77419660	77419660	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:77419660A>T	ENST00000322886.7	-	12	2478	c.2243T>A	c.(2242-2244)tTa>tAa	p.L748*	E2F7_ENST00000416496.2_Intron	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	748					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.L748*(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						TGGAGATGGTAAGACCATGCA	0.527																																					p.L748X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.T2243A	12						.						43.0	47.0	45.0					12																	77419660		2203	4300	6503	75943791	SO:0001587	stop_gained	144455	exon12			BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.2243T>A	12.37:g.77419660A>T	ENSP00000323246:p.Leu748*		75943791	NM_203394	A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Nonsense_Mutation	SNP	ENST00000322886.7	37	CCDS9016.1	.	.	.	.	.	.	.	.	.	.	A	37	6.470857	0.97594	.	.	ENSG00000165891	ENST00000322886;ENST00000339887	.	.	.	5.92	5.92	0.95590	.	0.598172	0.16998	N	0.191014	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-0.8653	14.1071	0.65099	1.0:0.0:0.0:0.0	.	.	.	.	X	748;235	.	ENSP00000323246:L748X	L	-	2	0	E2F7	75943791	0.533000	0.26354	0.035000	0.18076	0.056000	0.15407	6.015000	0.70791	2.274000	0.75844	0.533000	0.62120	TTA		0.527	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871	
NAV3	89795	broad.mit.edu	37	12	78593171	78593171	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:78593171T>G	ENST00000397909.2	+	37	6748	c.6575T>G	c.(6574-6576)cTt>cGt	p.L2192R	NAV3_ENST00000266692.7_Missense_Mutation_p.L1993R|NAV3_ENST00000541270.1_Missense_Mutation_p.L22R|NAV3_ENST00000536525.2_Missense_Mutation_p.L2170R|NAV3_ENST00000228327.6_Missense_Mutation_p.L2170R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2192						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.L2170R(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GGCAGATATCTTCGAAGAAAA	0.318										HNSCC(70;0.22)																											p.L2170R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T6509G	12						.						86.0	86.0	86.0					12																	78593171		1815	4074	5889	77117302	SO:0001583	missense	89795	exon36			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.6575T>G	12.37:g.78593171T>G	ENSP00000381007:p.Leu2192Arg		77117302	NM_014903	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37		.	.	.	.	.	.	.	.	.	.	T	25.9	4.685439	0.88639	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788;ENST00000541270	T;T;T;T;T;T	0.66099	0.24;0.24;0.23;0.32;0.69;-0.19	5.71	5.71	0.89125	ATPase, AAA+ type, core (1);	0.000000	0.34725	U	0.003736	D	0.82572	0.5066	M	0.89414	3.03	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.998;0.999	D	0.86052	0.1526	10	0.87932	D	0	-14.1274	16.2826	0.82703	0.0:0.0:0.0:1.0	.	2170;1993;2192;2170	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	R	2170;2192;2170;1993;784;792;22	ENSP00000446132:L2170R;ENSP00000381007:L2192R;ENSP00000228327:L2170R;ENSP00000266692:L1993R;ENSP00000448303:L792R;ENSP00000444918:L22R	ENSP00000228327:L2170R	L	+	2	0	NAV3	77117302	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.997000	0.88414	2.307000	0.77673	0.528000	0.53228	CTT		0.318	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383	
CCDC59	29080	broad.mit.edu	37	12	82750907	82750907	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:82750907G>T	ENST00000256151.7	-	2	707	c.296C>A	c.(295-297)gCt>gAt	p.A99D	METTL25_ENST00000248306.3_5'Flank|CCDC59_ENST00000548126.1_5'UTR	NM_014167.4	NP_054886.2	Q9P031	TAP26_HUMAN	coiled-coil domain containing 59	99					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A99D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)	5						TTCCTCTTCAGCTAAATAGAG	0.418																																					p.A99D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C296A	12						.						216.0	197.0	203.0					12																	82750907		2203	4300	6503	81275038	SO:0001583	missense	29080	exon2			AF213377	CCDS9023.1	12q21.31	2007-10-17				ENSG00000133773			25005	protein-coding gene	gene with protein product						16630564, 12882447	Standard	NM_014167		Approved	HSPC128, TAP26, BR22	uc001szp.4	Q9P031		ENST00000256151.7:c.296C>A	12.37:g.82750907G>T	ENSP00000256151:p.Ala99Asp		81275038	NM_014167	Q9H2V5|Q9NW62	Missense_Mutation	SNP	ENST00000256151.7	37	CCDS9023.1	.	.	.	.	.	.	.	.	.	.	G	32	5.146798	0.94603	.	.	ENSG00000133773	ENST00000552377;ENST00000256151	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.75436	0.3849	L	0.46819	1.47	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77368	-0.2614	9	0.87932	D	0	-18.6604	18.8445	0.92200	0.0:0.0:1.0:0.0	.	99	Q9P031	TAP26_HUMAN	D	99	.	ENSP00000256151:A99D	A	-	2	0	CCDC59	81275038	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.311000	0.89973	2.542000	0.85734	0.650000	0.86243	GCT		0.418	CCDC59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408186.1	NM_014167	
LRRIQ1	84125	broad.mit.edu	37	12	85517961	85517961	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:85517961A>C	ENST00000393217.2	+	17	3732	c.3671A>C	c.(3670-3672)aAg>aCg	p.K1224T		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1224								p.K1224T(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ACTATCACCAAGAAAGATGAA	0.408																																					p.K1224T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A3671C	12						.						98.0	102.0	101.0					12																	85517961		2203	4300	6503	84042092	SO:0001583	missense	84125	exon17			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.3671A>C	12.37:g.85517961A>C	ENSP00000376910:p.Lys1224Thr		84042092	NM_032165	Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	A	7.297	0.612206	0.14066	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.54279	0.58	5.52	3.08	0.35506	.	0.662303	0.14387	N	0.322759	T	0.35128	0.0921	N	0.24115	0.695	0.09310	N	1	B;B	0.26195	0.144;0.144	B;B	0.18263	0.021;0.021	T	0.22977	-1.0201	10	0.59425	D	0.04	.	6.9784	0.24690	0.7748:0.1493:0.0759:0.0	.	1224;1199	Q96JM4;C9JI57	LRIQ1_HUMAN;.	T	1224;1199;1224	ENSP00000376910:K1224T	ENSP00000256007:K1224T	K	+	2	0	LRRIQ1	84042092	0.014000	0.17966	0.006000	0.13384	0.028000	0.11728	2.664000	0.46783	0.348000	0.23949	0.477000	0.44152	AAG		0.408	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165	
CEP290	80184	broad.mit.edu	37	12	88480224	88480224	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:88480224G>A	ENST00000552810.1	-	33	4589	c.4246C>T	c.(4246-4248)Cgc>Tgc	p.R1416C	CEP290_ENST00000547691.2_Missense_Mutation_p.R476C|CEP290_ENST00000309041.7_Missense_Mutation_p.R1418C|CEP290_ENST00000397838.3_Missense_Mutation_p.R476C	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1416					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)		p.R1418C(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TCTAGTTGGCGTTCCAGGTCA	0.383																																					p.R1416C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4246T	12						.						114.0	106.0	108.0					12																	88480224		1871	4103	5974	87004355	SO:0001583	missense	80184	exon33			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.4246C>T	12.37:g.88480224G>A	ENSP00000448012:p.Arg1416Cys		87004355	NM_025114	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	G	33	5.233090	0.95207	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	T;T;T;T	0.69175	0.17;-0.38;-0.38;0.17	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.82084	0.4960	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81413	-0.0944	10	0.62326	D	0.03	.	20.5752	0.99366	0.0:0.0:1.0:0.0	.	1416	O15078	CE290_HUMAN	C	476;1416;1418;476	ENSP00000446905:R476C;ENSP00000448012:R1416C;ENSP00000308021:R1418C;ENSP00000380938:R476C	ENSP00000308021:R1418C	R	-	1	0	CEP290	87004355	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.175000	0.94831	2.868000	0.98415	0.557000	0.71058	CGC		0.383	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114	
TMTC3	160418	broad.mit.edu	37	12	88566473	88566473	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:88566473G>T	ENST00000266712.6	+	8	1370	c.1150G>T	c.(1150-1152)Ggg>Tgg	p.G384W		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	384					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)		p.G384W(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						TCCCAGCATGGGGTTCTGTAT	0.383																																					p.G384W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1150T	12						.						122.0	117.0	118.0					12																	88566473		2203	4299	6502	87090604	SO:0001583	missense	160418	exon8				CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.1150G>T	12.37:g.88566473G>T	ENSP00000266712:p.Gly384Trp		87090604	NM_181783	Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Missense_Mutation	SNP	ENST00000266712.6	37	CCDS9032.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.775924	0.90195	.	.	ENSG00000139324	ENST00000266712	T	0.52057	0.68	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.78978	0.4369	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84857	0.0817	10	0.87932	D	0	-10.1432	19.4846	0.95024	0.0:0.0:1.0:0.0	.	384	Q6ZXV5-2	.	W	384	ENSP00000266712:G384W	ENSP00000266712:G384W	G	+	1	0	TMTC3	87090604	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.751000	0.98889	2.586000	0.87340	0.650000	0.86243	GGG		0.383	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783	
ATP2B1	490	broad.mit.edu	37	12	90049658	90049658	+	Silent	SNP	G	G	A	rs199899576		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:90049658G>A	ENST00000428670.3	-	2	462	c.6C>T	c.(4-6)ggC>ggT	p.G2G	ATP2B1_ENST00000359142.3_Silent_p.G2G|ATP2B1_ENST00000261173.2_Silent_p.G2G|ATP2B1_ENST00000348959.3_Silent_p.G2G			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	2					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.G2G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TTGCCATGTCGCCCATTACAA	0.358																																					p.G2G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6T	12						.	G	,	0,4406		0,0,2203	72.0	78.0	76.0		6,6	2.8	1.0	12		76	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	ATP2B1	NM_001001323.1,NM_001682.2	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	2/1177,2/1221	90049658	2,13004	2203	4300	6503	88573789	SO:0001819	synonymous_variant	490	exon1			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.6C>T	12.37:g.90049658G>A			88573789	NM_001001323	Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Silent	SNP	ENST00000428670.3	37	CCDS9035.1																																																																																				0.358	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682	
KERA	11081	broad.mit.edu	37	12	91449443	91449443	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:91449443T>C	ENST00000266719.3	-	2	863	c.616A>G	c.(616-618)Aat>Gat	p.N206D		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	206					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)		p.N206D(1)		breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						GGAGGCATATTCCTCAGGGCA	0.368																																					p.N206D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A616G	12						.						126.0	125.0	125.0					12																	91449443		2203	4299	6502	89973574	SO:0001583	missense	11081	exon2			AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6309	protein-coding gene	gene with protein product	"""keratocan proteoglycan"""	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.616A>G	12.37:g.91449443T>C	ENSP00000266719:p.Asn206Asp		89973574	NM_007035		Missense_Mutation	SNP	ENST00000266719.3	37	CCDS9037.1	.	.	.	.	.	.	.	.	.	.	T	14.40	2.522990	0.44866	.	.	ENSG00000139330	ENST00000266719	T	0.17370	2.28	6.08	4.91	0.64330	.	0.330160	0.43416	D	0.000579	T	0.10035	0.0246	N	0.11756	0.17	0.30342	N	0.785584	B	0.23591	0.088	B	0.23275	0.045	T	0.13656	-1.0501	10	0.20519	T	0.43	-15.3172	12.6164	0.56580	0.0:0.0:0.2611:0.7389	.	206	O60938	KERA_HUMAN	D	206	ENSP00000266719:N206D	ENSP00000266719:N206D	N	-	1	0	KERA	89973574	1.000000	0.71417	0.999000	0.59377	0.914000	0.54420	4.789000	0.62446	1.087000	0.41251	0.533000	0.62120	AAT		0.368	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	NM_007035	
FGD6	55785	broad.mit.edu	37	12	95603094	95603094	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:95603094C>A	ENST00000343958.4	-	2	2189	c.1966G>T	c.(1966-1968)Gac>Tac	p.D656Y	FGD6_ENST00000550368.1_5'Flank|FGD6_ENST00000549499.1_Missense_Mutation_p.D656Y|FGD6_ENST00000546711.1_Missense_Mutation_p.D656Y	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	656					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.D656Y(1)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						GTGGTGGTGTCTCCGAGTTGG	0.443																																					p.D656Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1966T	12						.						91.0	95.0	94.0					12																	95603094		2203	4300	6503	94127225	SO:0001583	missense	55785	exon2			AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.1966G>T	12.37:g.95603094C>A	ENSP00000344446:p.Asp656Tyr		94127225	NM_018351	Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.566275	0.45694	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.72167	-0.53;-0.63;-0.55	5.83	5.83	0.93111	.	0.393472	0.21761	N	0.069516	T	0.81597	0.4856	M	0.66939	2.045	0.51482	D	0.999921	D	0.71674	0.998	P	0.57371	0.819	T	0.82587	-0.0383	10	0.87932	D	0	-8.8133	20.1218	0.97964	0.0:1.0:0.0:0.0	.	656	Q6ZV73	FGD6_HUMAN	Y	656	ENSP00000344446:D656Y;ENSP00000450342:D656Y;ENSP00000449005:D656Y	ENSP00000344446:D656Y	D	-	1	0	FGD6	94127225	0.994000	0.37717	0.289000	0.24876	0.283000	0.27025	4.092000	0.57707	2.763000	0.94921	0.561000	0.74099	GAC		0.443	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351	
IKBIP	121457	broad.mit.edu	37	12	99020199	99020199	+	Intron	SNP	T	T	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:99020199T>A	ENST00000342502.2	-	2	709				IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000299157.4_Missense_Mutation_p.T215S	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein						response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.T215S(1)		NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						CTTTTTACTGTTCTAATATTT	0.393																																					p.T215S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A643T	12						.						143.0	135.0	137.0					12																	99020199		2203	4300	6503	97544330	SO:0001627	intron_variant	121457	exon3			AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"""I kappa B kinase interacting protein"""	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.297+7874A>T	12.37:g.99020199T>A			97544330	NM_153687	Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Missense_Mutation	SNP	ENST00000342502.2	37	CCDS9067.1	.	.	.	.	.	.	.	.	.	.	T	16.06	3.015698	0.54468	.	.	ENSG00000166130	ENST00000299157	T	0.48201	0.82	5.7	5.7	0.88788	.	0.751998	0.13554	N	0.379257	T	0.62502	0.2433	.	.	.	0.80722	D	1	D	0.69078	0.997	D	0.68765	0.96	T	0.52563	-0.8559	9	0.15499	T	0.54	-11.0567	15.9541	0.79871	0.0:0.0:0.0:1.0	.	215	Q70UQ0-4	.	S	215	ENSP00000299157:T215S	ENSP00000299157:T215S	T	-	1	0	IKBIP	97544330	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.779000	0.55379	2.167000	0.68274	0.528000	0.53228	ACA		0.393	IKBIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408003.2	NM_153687	
APAF1	317	broad.mit.edu	37	12	99065359	99065359	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:99065359G>A	ENST00000551964.1	+	12	2391	c.1655G>A	c.(1654-1656)gGa>gAa	p.G552E	APAF1_ENST00000339433.3_Missense_Mutation_p.G552E|APAF1_ENST00000547045.1_Missense_Mutation_p.G552E|APAF1_ENST00000550527.1_Missense_Mutation_p.G541E|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000549007.1_Missense_Mutation_p.G552E|APAF1_ENST00000357310.1_Missense_Mutation_p.G552E|APAF1_ENST00000359972.2_Missense_Mutation_p.G541E	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	552					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)	p.G552E(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TCTTTAAATGGACACCTTCTT	0.408																																					p.G541E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1622A	12						.						141.0	142.0	142.0					12																	99065359		2203	4300	6503	97589490	SO:0001583	missense	317	exon12			AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.1655G>A	12.37:g.99065359G>A	ENSP00000448165:p.Gly552Glu		97589490	NM_013229	B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	37	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.996929	0.93167	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000550527;ENST00000547045;ENST00000549007	T;T;T;T;T;T;T	0.59364	0.28;0.4;0.37;0.48;0.27;0.37;0.48	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.67420	0.2891	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.999;1.0	T	0.60816	-0.7188	10	0.25751	T	0.34	-8.8199	20.3931	0.98965	0.0:0.0:1.0:0.0	.	552;541;552;541	O14727-4;O14727-3;O14727;O14727-2	.;.;APAF_HUMAN;.	E	552;541;552;552;541;552;552	ENSP00000448165:G552E;ENSP00000353059:G541E;ENSP00000349862:G552E;ENSP00000341830:G552E;ENSP00000448449:G541E;ENSP00000449791:G552E;ENSP00000448161:G552E	ENSP00000341830:G552E	G	+	2	0	APAF1	97589490	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.104000	0.94239	2.824000	0.97209	0.655000	0.94253	GGA		0.408	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1	
UHRF1BP1L	23074	broad.mit.edu	37	12	100441893	100441893	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:100441893A>G	ENST00000279907.7	-	18	4012	c.3800T>C	c.(3799-3801)aTa>aCa	p.I1267T	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.I917T	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1267								p.I1267T(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TAAAGAGTGTATTACAGCACC	0.368																																					p.I1267T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3800C	12						.						57.0	58.0	58.0					12																	100441893		2203	4300	6503	98966024	SO:0001583	missense	23074	exon18				CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.3800T>C	12.37:g.100441893A>G	ENSP00000279907:p.Ile1267Thr		98966024	NM_015054	A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	CCDS31882.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.73|14.73	2.623824|2.623824	0.46840|0.46840	.|.	.|.	ENSG00000111647|ENSG00000111647	ENST00000279907;ENST00000545232|ENST00000548712	T;T|.	0.10477|.	2.88;2.87|.	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	0.226552|.	0.49305|.	D|.	0.000152|.	T|T	0.62319|0.62319	0.2418|0.2418	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	B|.	0.21753|.	0.06|.	B|.	0.21360|.	0.034|.	T|T	0.60434|0.60434	-0.7264|-0.7264	10|5	0.59425|.	D|.	0.04|.	-5.8833|-5.8833	12.4913|12.4913	0.55901|0.55901	0.8608:0.1392:0.0:0.0|0.8608:0.1392:0.0:0.0	.|.	1267|.	A0JNW5|.	UH1BL_HUMAN|.	T|H	1267;917|28	ENSP00000279907:I1267T;ENSP00000444824:I917T|.	ENSP00000279907:I1267T|.	I|Y	-|-	2|1	0|0	UHRF1BP1L|UHRF1BP1L	98966024|98966024	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	3.890000|3.890000	0.56220|0.56220	2.333000|2.333000	0.79357|0.79357	0.482000|0.482000	0.46254|0.46254	ATA|TAC		0.368	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947	
ACTR6	64431	broad.mit.edu	37	12	100598811	100598811	+	Silent	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:100598811C>A	ENST00000188312.2	+	2	927	c.162C>A	c.(160-162)ctC>ctA	p.L54L	ACTR6_ENST00000550813.1_3'UTR|ACTR6_ENST00000546902.1_5'UTR|ACTR6_ENST00000552376.1_Silent_p.L54L|ACTR6_ENST00000551617.1_5'UTR	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	54						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.L54L(1)		autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						CTTCTGGACTCTTTTACATCC	0.313																																					p.L54L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C162A	12						.						68.0	72.0	71.0					12																	100598811		2203	4298	6501	99122942	SO:0001819	synonymous_variant	64431	exon2			AF212251	CCDS9074.1	12q23.1	2012-07-09			ENSG00000075089	ENSG00000075089			24025	protein-coding gene	gene with protein product						11368909	Standard	NM_022496		Approved	ARP6, FLJ13433	uc001thb.2	Q9GZN1	OTTHUMG00000170245	ENST00000188312.2:c.162C>A	12.37:g.100598811C>A			99122942	NM_022496	B3KW37|B4DLG9|Q53GH2|Q9BY39|Q9H8H6	Silent	SNP	ENST00000188312.2	37	CCDS9074.1																																																																																				0.313	ACTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408159.1	NM_022496	
NAA25	80018	broad.mit.edu	37	12	112467382	112467382	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:112467382delC	ENST00000261745.4	-	24	3120	c.2872delG	c.(2872-2874)gagfs	p.E958fs		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	958						cytoplasm (GO:0005737)		p.E958fs*3(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TTCAGCAGCTCCCCCATTTCC	0.398																																					p.E958fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2872delG	12						.						135.0	125.0	129.0					12																	112467382		2203	4300	6503	110951765	SO:0001589	frameshift_variant	80018	exon24			AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.2872delG	12.37:g.112467382delC	ENSP00000261745:p.Glu958fs		110951765	NM_024953	A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Frame_Shift_Del	DEL	ENST00000261745.4	37	CCDS9159.1																																																																																				0.398	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953	
CHFR	55743	broad.mit.edu	37	12	133423629	133423629	+	Splice_Site	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:133423629C>A	ENST00000432561.2	-	15	1844	c.1771G>T	c.(1771-1773)Gat>Tat	p.D591Y	CHFR_ENST00000315585.7_Splice_Site_p.D550Y|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000541341.1_Splice_Site_p.D18Y|CHFR_ENST00000443047.2_Splice_Site_p.D499Y|CHFR_ENST00000266880.7_Splice_Site_p.D590Y|CHFR_ENST00000537522.1_Splice_Site_p.D213Y|CHFR_ENST00000450056.2_Splice_Site_p.D579Y			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	591					mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|modification-dependent protein catabolic process (GO:0019941)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)|PML body (GO:0016605)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D550Y(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		AAGAACTCACCAGACAGCAGA	0.552																																					p.D550Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1648T	12						.						142.0	146.0	145.0					12																	133423629		2203	4300	6503	131933702	SO:0001630	splice_region_variant	55743	exon15			AK001658	CCDS31937.1, CCDS53847.1, CCDS53848.1, CCDS53849.1	12q24.33	2012-02-23	2012-02-23			ENSG00000072609		"""RING-type (C3HC4) zinc fingers"""	20455	protein-coding gene	gene with protein product		605209	"""checkpoint with forkhead and ring finger domains"""			10935642, 11807090	Standard	NM_001161344		Approved	FLJ10796, RNF196	uc001ulf.2	Q96EP1		ENST00000432561.2:c.1771+1G>T	12.37:g.133423629C>A			131933702	NM_018223	A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	Missense_Mutation	SNP	ENST00000432561.2	37	CCDS53849.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.234271	0.58886	.	.	ENSG00000072609	ENST00000315585;ENST00000443047;ENST00000450056;ENST00000266880;ENST00000537522;ENST00000432561	T;T;T;T;T;T	0.35236	2.19;1.95;2.2;1.95;1.32;2.18	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.62624	0.2443	M	0.75447	2.3	0.80722	D	1	D;D;D;D;D	0.89917	0.98;1.0;1.0;1.0;1.0	P;D;D;D;D	0.78314	0.844;0.988;0.974;0.988;0.991	T	0.61013	-0.7148	9	.	.	.	-9.8935	19.6892	0.95991	0.0:1.0:0.0:0.0	.	499;590;591;579;550	Q96EP1-5;Q96EP1-4;Q96EP1;Q96EP1-2;Q96EP1-3	.;.;CHFR_HUMAN;.;.	Y	550;499;579;590;213;591	ENSP00000320557:D550Y;ENSP00000416431:D499Y;ENSP00000398735:D579Y;ENSP00000266880:D590Y;ENSP00000442327:D213Y;ENSP00000392395:D591Y	.	D	-	1	0	CHFR	131933702	1.000000	0.71417	1.000000	0.80357	0.024000	0.10985	6.798000	0.75155	2.662000	0.90505	0.561000	0.74099	GAT		0.552	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397130.2		Missense_Mutation
ZNF84	7637	broad.mit.edu	37	12	133635506	133635506	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:133635506delA	ENST00000327668.7	+	5	2785	c.2205delA	c.(2203-2205)gtafs	p.V735fs	ZNF84_ENST00000539354.1_Frame_Shift_Del_p.V735fs|ZNF84_ENST00000392319.2_Frame_Shift_Del_p.V735fs|ZNF84_ENST00000535439.1_Intron|ZNF84_ENST00000543758.1_Frame_Shift_Del_p.V734fs			P51523	ZNF84_HUMAN	zinc finger protein 84	735					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K737fs*>2(1)		breast(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|prostate(1)	13	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000535)|all_epithelial(31;0.142)		OV - Ovarian serous cystadenocarcinoma(86;4.04e-08)|Epithelial(86;7.85e-07)|all cancers(50;2.74e-05)		CTCATACAGTAAAAAAATCCT	0.373																																					p.V735fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2205delA	12						.																																			132145579	SO:0001589	frameshift_variant	7637	exon5			M27878	CCDS31940.1	12q24.33	2013-01-08	2006-05-12					"""Zinc fingers, C2H2-type"", ""-"""	13159	protein-coding gene	gene with protein product			"""zinc finger protein 84 (HPF2)"""				Standard	XM_005266184		Approved	HPF2	uc009zyz.3	P51523		ENST00000327668.7:c.2205delA	12.37:g.133635506delA	ENSP00000331465:p.Val735fs		132145579	NM_001127372	B2RAK5|D3DXJ1|Q3ZCV9|Q5D057|Q86XU8|Q9NNX7|Q9UC17|Q9UC18	Frame_Shift_Del	DEL	ENST00000327668.7	37	CCDS31940.1																																																																																				0.373	ZNF84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397158.1	NM_003428	
RECQL	5965	broad.mit.edu	37	12	21644547	21644547	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:21644547delT	ENST00000444129.2	-	3	588	c.120delA	c.(118-120)aaafs	p.K40fs	RECQL_ENST00000421138.2_Frame_Shift_Del_p.K40fs	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	40					DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.V41fs*2(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TTGTCAGGACTTTTTTTTTCT	0.383								Other identified genes with known or suspected DNA repair function																													p.K40fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.120delA	12						.						54.0	52.0	53.0					12																	21644547		2203	4300	6503	21535814	SO:0001589	frameshift_variant	5965	exon4			D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"""DNA helicase Q1-like"""	600537	"""RecQ protein-like (DNA helicase Q1-like)"""			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.120delA	12.37:g.21644547delT	ENSP00000416739:p.Lys40fs		21535814	NM_032941	A8K6G2	Frame_Shift_Del	DEL	ENST00000444129.2	37	CCDS31756.1																																																																																				0.383	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	NM_002907	
ACVR1B	91	broad.mit.edu	37	12	52379121	52379121	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:52379121delG	ENST00000257963.4	+	6	1202	c.1125delG	c.(1123-1125)gtgfs	p.V375fs	ACVR1B_ENST00000415850.2_Frame_Shift_Del_p.V375fs|RNU6-574P_ENST00000384265.1_RNA|ACVR1B_ENST00000563121.1_3'UTR|ACVR1B_ENST00000541224.1_Frame_Shift_Del_p.V416fs|ACVR1B_ENST00000426655.2_Frame_Shift_Del_p.V375fs|ACVR1B_ENST00000542485.1_Frame_Shift_Del_p.V323fs	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	375	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)	p.T418fs*16(1)|p.T377fs*16(1)		breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	ATCAGAGGGTGGGGACCAAAC	0.552																																					p.V323fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.969delG	12						.						132.0	121.0	124.0					12																	52379121		2203	4300	6503	50665388	SO:0001589	frameshift_variant	91	exon6				CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.1125delG	12.37:g.52379121delG	ENSP00000257963:p.Val375fs		50665388	NM_020327	B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Frame_Shift_Del	DEL	ENST00000257963.4	37	CCDS8816.1																																																																																				0.552	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	NM_020328	
CYP27B1	1594	broad.mit.edu	37	12	58157486	58157486	+	Frame_Shift_Del	DEL	G	G	-	rs573538895		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:58157486delG	ENST00000228606.4	-	8	1530	c.1321delC	c.(1321-1323)cacfs	p.H441fs	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	441					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.H441fs*33(1)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	GCAAATGGGTGGGGGGTGGGA	0.582																																					p.H441fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1321delC	12						.						61.0	68.0	66.0					12																	58157486		2203	4300	6503	56443753	SO:0001589	frameshift_variant	1594	exon8			AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"""Cytochrome P450s"""	2606	protein-coding gene	gene with protein product	"""VDDR I"", ""1alpha(OH)ase"", ""25-Hydroxyvitamin D3 1alpha-hydroxylase"""	609506	"""cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"""	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.1321delC	12.37:g.58157486delG	ENSP00000228606:p.His441fs		56443753	NM_000785	B2RC61|Q548T3	Frame_Shift_Del	DEL	ENST00000228606.4	37	CCDS8954.1																																																																																				0.582	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1	NM_000785	
ZFC3H1	196441	broad.mit.edu	37	12	72038781	72038781	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:72038781delT	ENST00000378743.3	-	4	1513	c.1155delA	c.(1153-1155)aaafs	p.K385fs		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	385					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.K385fs*9(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTTGTTGCCATTTTTTACTGG	0.348																																					p.K385fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1155delA	12						.						121.0	106.0	110.0					12																	72038781		1832	4094	5926	70325048	SO:0001589	frameshift_variant	196441	exon4			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.1155delA	12.37:g.72038781delT	ENSP00000368017:p.Lys385fs		70325048	NM_144982	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Frame_Shift_Del	DEL	ENST00000378743.3	37	CCDS41813.1																																																																																				0.348	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982	
E2F7	144455	broad.mit.edu	37	12	77449827	77449827	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:77449827delT	ENST00000322886.7	-	3	412	c.177delA	c.(175-177)aaafs	p.K59fs	E2F7_ENST00000416496.2_Frame_Shift_Del_p.K59fs	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	59					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.K59fs*29(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CTGGAGTAAATTTTTTTTGCT	0.363																																					p.K59fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.177delA	12						.						82.0	84.0	83.0					12																	77449827		2203	4300	6503	75973958	SO:0001589	frameshift_variant	144455	exon3			BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.177delA	12.37:g.77449827delT	ENSP00000323246:p.Lys59fs		75973958	NM_203394	A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Frame_Shift_Del	DEL	ENST00000322886.7	37	CCDS9016.1																																																																																				0.363	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871	
EEA1	8411	broad.mit.edu	37	12	93244914	93244914	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:93244914delT	ENST00000322349.8	-	9	1035	c.771delA	c.(769-771)aaafs	p.K257fs		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	257					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.K257fs*13(1)		endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						GTGACTGCAATTTTTTGCATT	0.373																																					p.K257fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.771delA	12						.						134.0	109.0	117.0					12																	93244914		2202	4300	6502	91769045	SO:0001589	frameshift_variant	8411	exon9			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.771delA	12.37:g.93244914delT	ENSP00000317955:p.Lys257fs		91769045	NM_003566	Q14221	Frame_Shift_Del	DEL	ENST00000322349.8	37	CCDS31874.1																																																																																				0.373	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566	
PLXNC1	10154	broad.mit.edu	37	12	94692525	94692525	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:94692525delA	ENST00000258526.4	+	27	4441	c.4192delA	c.(4192-4194)aaafs	p.K1399fs	PLXNC1_ENST00000545312.1_Frame_Shift_Del_p.K138fs|PLXNC1_ENST00000547057.1_Frame_Shift_Del_p.K446fs	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1399					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.I1400fs*21(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GGCTGAAAACAAAAAAATCAC	0.368																																					p.K1398fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.4192delA	12						.						66.0	69.0	68.0					12																	94692525		2203	4300	6503	93216656	SO:0001589	frameshift_variant	10154	exon27			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.4192delA	12.37:g.94692525delA	ENSP00000258526:p.Lys1399fs		93216656	NM_005761	Q59H25	Frame_Shift_Del	DEL	ENST00000258526.4	37	CCDS9049.1																																																																																				0.368	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2		
PLEKHA8P1	51054	broad.mit.edu	37	12	45567852	45567852	+	RNA	SNP	C	C	T	rs557969310		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr12:45567852C>T	ENST00000256692.5	-	0	833					NR_037144.1		O95397	PKHA9_HUMAN	pleckstrin homology domain containing, family A member 8 pseudogene 1							cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)	p.T99T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGCTCAACTCCGTTTGCCTTT	0.373													C|||	1	0.000199681	0.0	0.0	5008	,	,		21486	0.0		0.0	False		,,,				2504	0.001				.												.	.	1	Substitution - coding silent(1)	large_intestine(1)	.	12						.						108.0	102.0	104.0					12																	45567852		2203	4300	6503	43854119			51054	.			AF103731		12q12	2010-11-24	2010-11-24	2010-11-24	ENSG00000134297	ENSG00000134297			30222	pseudogene	pseudogene	"""putative glycolipid transfer protein"""		"""pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9"""	PLEKHA9		12477932	Standard	NR_037144		Approved	FLJ14156	uc001rom.2	O95397			12.37:g.45567852C>T			43854119	.		Silent	SNP	ENST00000256692.5	37																																																																																					0.373	PLEKHA8P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000404814.1	NR_037144	
NALCN	259232	broad.mit.edu	37	13	101736067	101736067	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr13:101736067C>T	ENST00000251127.6	-	31	3659	c.3578G>A	c.(3577-3579)cGc>cAc	p.R1193H		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1193					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.R1193H(2)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGTACCCGGGCGAGGCGGAAG	0.488																																					p.R1193H												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G3578A	13						.						59.0	61.0	61.0					13																	101736067		2203	4300	6503	100534068	SO:0001583	missense	259232	exon31			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3578G>A	13.37:g.101736067C>T	ENSP00000251127:p.Arg1193His		100534068	NM_052867	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.655900	0.88056	.	.	ENSG00000102452	ENST00000251127	D	0.98044	-4.68	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.97923	0.9317	M	0.73962	2.25	0.80722	D	1	D	0.71674	0.998	P	0.53062	0.717	D	0.98730	1.0712	10	0.87932	D	0	.	16.9487	0.86237	0.0:1.0:0.0:0.0	.	1193	Q8IZF0	NALCN_HUMAN	H	1193	ENSP00000251127:R1193H	ENSP00000251127:R1193H	R	-	2	0	NALCN	100534068	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.398000	0.79919	2.441000	0.82636	0.650000	0.86243	CGC		0.488	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867	
NALCN	259232	broad.mit.edu	37	13	101797150	101797150	+	Missense_Mutation	SNP	A	A	G	rs141507135	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr13:101797150A>G	ENST00000251127.6	-	16	2018	c.1937T>C	c.(1936-1938)aTc>aCc	p.I646T		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	646					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.I646T(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAGCTTTGAGATTTTCACCAT	0.333																																					p.I646T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1937C	13						.	A	THR/ILE	0,4406		0,0,2203	162.0	179.0	173.0		1937	5.7	1.0	13	dbSNP_134	173	2,8598	2.2+/-6.3	0,2,4298	yes	missense	NALCN	NM_052867.2	89	0,2,6501	GG,GA,AA		0.0233,0.0,0.0154	benign	646/1739	101797150	2,13004	2203	4300	6503	100595151	SO:0001583	missense	259232	exon16			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1937T>C	13.37:g.101797150A>G	ENSP00000251127:p.Ile646Thr		100595151	NM_052867	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.171034	0.78452	0.0	2.33E-4	ENSG00000102452	ENST00000251127	D	0.97731	-4.51	5.65	5.65	0.86999	.	0.046014	0.85682	D	0.000000	D	0.95227	0.8452	N	0.14661	0.345	0.80722	D	1	P	0.50710	0.938	P	0.47673	0.554	D	0.96261	0.9191	10	0.72032	D	0.01	.	15.8703	0.79115	1.0:0.0:0.0:0.0	.	646	Q8IZF0	NALCN_HUMAN	T	646	ENSP00000251127:I646T	ENSP00000251127:I646T	I	-	2	0	NALCN	100595151	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.850000	0.92190	2.151000	0.67156	0.533000	0.62120	ATC		0.333	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867	
FGF14	2259	broad.mit.edu	37	13	102375233	102375233	+	Missense_Mutation	SNP	G	G	A	rs199536239		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr13:102375233G>A	ENST00000376143.4	-	5	691	c.692C>T	c.(691-693)gCg>gTg	p.A231V	FGF14_ENST00000376131.4_Missense_Mutation_p.A236V|ITGBL1_ENST00000415285.1_3'UTR	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	231					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.A236V(2)|p.A231V(2)|p.A236E(1)|p.A231E(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TATTGCAGACGCACTTGTGCT	0.483																																					p.A236V												.	.	6	Substitution - Missense(6)	large_intestine(4)|lung(2)	c.C707T	13						.	G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	293.0	213.0	240.0		692,707	5.1	1.0	13		240	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FGF14	NM_004115.3,NM_175929.2	64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	231/248,236/253	102375233	1,13005	2203	4300	6503	101173234	SO:0001583	missense	2259	exon5				CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.692C>T	13.37:g.102375233G>A	ENSP00000365313:p.Ala231Val		101173234	NM_175929	Q86YN7|Q96QX6	Missense_Mutation	SNP	ENST00000376143.4	37	CCDS9501.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.821101	0.32237	0.0	1.16E-4	ENSG00000102466	ENST00000376131;ENST00000376143	T;T	0.77750	-1.12;-1.06	5.92	5.08	0.68730	.	0.462575	0.24879	N	0.034872	T	0.61527	0.2354	N	0.08118	0	0.50039	D	0.999848	B;B	0.20459	0.045;0.006	B;B	0.22386	0.039;0.006	T	0.56450	-0.7977	10	0.28530	T	0.3	.	15.3981	0.74812	0.0669:0.0:0.9331:0.0	.	236;231	Q92915-2;Q92915	.;FGF14_HUMAN	V	236;231	ENSP00000365301:A236V;ENSP00000365313:A231V	ENSP00000365301:A236V	A	-	2	0	FGF14	101173234	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	4.839000	0.62810	1.515000	0.48885	0.563000	0.77884	GCG		0.483	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045679.2		
MYO16	23026	broad.mit.edu	37	13	109318424	109318424	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr13:109318424G>A	ENST00000357550.2	+	1	194	c.153G>A	c.(151-153)gcG>gcA	p.A51A	MYO16_ENST00000251041.5_Silent_p.A51A|MYO16_ENST00000356711.2_Silent_p.A51A	NM_001198950.1	NP_001185879.1			myosin XVI									p.A51A(2)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TGAAGCATGCGAAGAATCCGA	0.478																																					p.A73A												.	.	2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)	c.G219A	13						.						76.0	67.0	70.0					13																	109318424		2203	4300	6503	108116425	SO:0001819	synonymous_variant	23026	exon2				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.153G>A	13.37:g.109318424G>A			108116425	NM_001198950		Silent	SNP	ENST00000357550.2	37	CCDS32008.1																																																																																				0.478	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011	
MYO16	23026	broad.mit.edu	37	13	109753183	109753183	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr13:109753183C>T	ENST00000357550.2	+	27	3361	c.3320C>T	c.(3319-3321)gCt>gTt	p.A1107V	MYO16_ENST00000457511.2_Missense_Mutation_p.A619V|MYO16_ENST00000356711.2_Missense_Mutation_p.A1107V|MYO16-AS2_ENST00000412809.1_RNA	NM_001198950.1	NP_001185879.1			myosin XVI									p.A1107V(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GAACAGTCAGCTGCCGAGCGA	0.438																																					p.A1129V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3386T	13						.						90.0	78.0	82.0					13																	109753183		2203	4300	6503	108551184	SO:0001583	missense	23026	exon28				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3320C>T	13.37:g.109753183C>T	ENSP00000350160:p.Ala1107Val		108551184	NM_001198950		Missense_Mutation	SNP	ENST00000357550.2	37	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.008888	0.54361	.	.	ENSG00000041515	ENST00000356711;ENST00000357550;ENST00000457511	D;D;D	0.87650	-2.28;-2.28;-2.28	5.45	5.45	0.79879	Myosin head, motor domain (2);	0.000000	0.40385	U	0.001119	D	0.82678	0.5089	L	0.43598	1.365	0.19775	N	0.999952	P;P	0.40970	0.646;0.734	B;B	0.37601	0.165;0.254	T	0.76391	-0.2976	9	.	.	.	.	16.0272	0.80551	0.0:1.0:0.0:0.0	.	619;1107	F8W883;Q9Y6X6	.;MYO16_HUMAN	V	1107;1107;619	ENSP00000349145:A1107V;ENSP00000350160:A1107V;ENSP00000401633:A619V	.	A	+	2	0	MYO16	108551184	0.706000	0.27856	0.022000	0.16811	0.004000	0.04260	2.124000	0.42006	2.550000	0.86006	0.655000	0.94253	GCT		0.438	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011	
TUBGCP3	10426	broad.mit.edu	37	13	113174253	113174253	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr13:113174253C>T	ENST00000261965.3	-	15	2014	c.1828G>A	c.(1828-1830)Gca>Aca	p.A610T	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.A610T|TUBGCP3_ENST00000462580.1_5'Flank	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	610					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.A610T(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					TCAAACTGTGCGTTGGTGGCT	0.537																																					p.A610T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1828A	13						.						120.0	120.0	120.0					13																	113174253		2203	4300	6503	112222254	SO:0001583	missense	10426	exon15			AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"""spindle pole body protein"""					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.1828G>A	13.37:g.113174253C>T	ENSP00000261965:p.Ala610Thr		112222254	NM_006322	O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP	ENST00000261965.3	37	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079384	0.94050	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	T;T	0.08807	3.05;3.05	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.31857	0.0810	M	0.81614	2.55	0.80722	D	1	D;P;D	0.76494	0.999;0.879;0.998	D;P;D	0.70227	0.968;0.653;0.957	T	0.06092	-1.0846	10	0.49607	T	0.09	-23.55	18.4225	0.90595	0.0:1.0:0.0:0.0	.	600;610;610	B4DYP7;Q96CW5-2;Q96CW5	.;.;GCP3_HUMAN	T	610	ENSP00000261965:A610T;ENSP00000364821:A610T	ENSP00000261965:A610T	A	-	1	0	TUBGCP3	112222254	1.000000	0.71417	0.803000	0.32268	0.919000	0.55068	7.106000	0.77039	2.336000	0.79503	0.558000	0.71614	GCA		0.537	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322	
TUBGCP3	10426	broad.mit.edu	37	13	113176723	113176723	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr13:113176723C>G	ENST00000261965.3	-	14	1842	c.1656G>C	c.(1654-1656)aaG>aaC	p.K552N	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.K552N|TUBGCP3_ENST00000462580.1_5'UTR	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	552					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.K552N(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GCAAGCTGTACTTTTTATTGA	0.433																																					p.K552N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1656C	13						.						101.0	94.0	97.0					13																	113176723		2203	4300	6503	112224724	SO:0001583	missense	10426	exon14			AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"""spindle pole body protein"""					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.1656G>C	13.37:g.113176723C>G	ENSP00000261965:p.Lys552Asn		112224724	NM_006322	O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP	ENST00000261965.3	37	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.951466	0.34471	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	T;T	0.08720	3.06;3.06	5.79	1.38	0.22167	.	0.046313	0.85682	D	0.000000	T	0.06554	0.0168	L	0.37750	1.13	0.35774	D	0.821163	B;B;B	0.12630	0.006;0.002;0.006	B;B;B	0.15870	0.014;0.012;0.014	T	0.18999	-1.0319	10	0.45353	T	0.12	-40.0439	7.183	0.25784	0.0:0.5455:0.1131:0.3414	.	542;552;552	B4DYP7;Q96CW5-2;Q96CW5	.;.;GCP3_HUMAN	N	552	ENSP00000261965:K552N;ENSP00000364821:K552N	ENSP00000261965:K552N	K	-	3	2	TUBGCP3	112224724	0.998000	0.40836	0.976000	0.42696	0.977000	0.68977	0.301000	0.19174	0.330000	0.23485	-0.484000	0.04775	AAG		0.433	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322	
TUBA3C	7278	broad.mit.edu	37	13	19751492	19751492	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr13:19751492C>A	ENST00000400113.3	-	4	735	c.631G>T	c.(631-633)Gac>Tac	p.D211Y		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	211					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.D211Y(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CGACATATGTCATAGATGGCT	0.572																																					p.D211Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G631T	13						.						183.0	160.0	168.0					13																	19751492		2203	4300	6503	18649492	SO:0001583	missense	7278	exon4			AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.631G>T	13.37:g.19751492C>A	ENSP00000382982:p.Asp211Tyr		18649492	NM_006001	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	c	9.770	1.172564	0.21704	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.71222	-0.55	1.21	0.297	0.15762	.	0.000000	0.48767	U	0.000166	T	0.71542	0.3352	.	.	.	0.42364	D	0.992421	.	.	.	.	.	.	T	0.68739	-0.5329	7	0.87932	D	0	.	5.6914	0.17831	0.0:0.7927:0.0:0.2073	.	.	.	.	Y	211	ENSP00000382982:D211Y	ENSP00000354037:D211Y	D	-	1	0	TUBA3C	18649492	0.999000	0.42202	0.996000	0.52242	0.706000	0.40770	4.655000	0.61476	0.076000	0.16826	0.184000	0.17185	GAC		0.572	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001	
TUBA3C	7278	broad.mit.edu	37	13	19751694	19751694	+	Frame_Shift_Del	DEL	A	A	-	rs9507567	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr13:19751694delA	ENST00000400113.3	-	4	533	c.429delT	c.(427-429)ggtfs	p.G144fs		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	144					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.G144fs*24(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		AGCCAGTGCCACCCCCAAAAC	0.567																																					p.G143fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.429delT	13						.						65.0	65.0	65.0					13																	19751694		2203	4300	6503	18649694	SO:0001589	frameshift_variant	7278	exon4			AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.429delT	13.37:g.19751694delA	ENSP00000382982:p.Gly144fs		18649694	NM_006001	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Frame_Shift_Del	DEL	ENST00000400113.3	37	CCDS9284.1																																																																																				0.567	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001	
ZMYM2	7750	broad.mit.edu	37	13	20638677	20638677	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr13:20638677delA	ENST00000382874.2	+	20	3314	c.3124delA	c.(3124-3126)aaafs	p.K1044fs	ZMYM2_ENST00000382871.2_Frame_Shift_Del_p.K1044fs|ZMYM2_ENST00000382869.3_Frame_Shift_Del_p.K1044fs	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1044					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)	p.K1044fs*33(1)		large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		ACCTCGATCTAAAAAAAAGGT	0.368																																					p.K1042fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.3124delA	13						.						92.0	82.0	85.0					13																	20638677		1806	4073	5879	19536677	SO:0001589	frameshift_variant	7750	exon19			AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.3124delA	13.37:g.20638677delA	ENSP00000372327:p.Lys1044fs		19536677	NM_197968	A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Frame_Shift_Del	DEL	ENST00000382874.2	37	CCDS45016.1																																																																																				0.368	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453	
IFT88	8100	broad.mit.edu	37	13	21205194	21205194	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr13:21205194A>G	ENST00000319980.6	+	18	1693	c.1366A>G	c.(1366-1368)Aga>Gga	p.R456G	IFT88_ENST00000461115.1_3'UTR|IFT88_ENST00000351808.5_Missense_Mutation_p.R447G|IFT88_ENST00000537103.1_Missense_Mutation_p.R428G|IFT88_ENST00000382778.4_Missense_Mutation_p.R456G	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	456					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)		p.R456G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		AAAGGACAGTAGAGTGAAAAG	0.338																																					p.R456G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1366G	13						.						118.0	120.0	119.0					13																	21205194		2203	4300	6503	20103194	SO:0001583	missense	8100	exon18			AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	20606	protein-coding gene	gene with protein product	"""polaris homolog"""	600595	"""tetratricopeptide repeat domain 10"", ""intraflagellar transport 88 homolog (Chlamydomonas)"""	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.1366A>G	13.37:g.21205194A>G	ENSP00000323580:p.Arg456Gly		20103194	NM_175605	A2A491|B4DUS2|Q5SZJ6|Q8N719	Missense_Mutation	SNP	ENST00000319980.6	37	CCDS31944.1	.	.	.	.	.	.	.	.	.	.	A	16.92	3.254980	0.59321	.	.	ENSG00000032742	ENST00000382778;ENST00000389374;ENST00000351808;ENST00000319980;ENST00000537103	T;T;T;T	0.75938	-0.98;0.84;0.84;0.84	5.42	2.75	0.32379	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.76709	0.4025	M	0.72894	2.215	0.58432	D	0.999998	P;P;B;B	0.44734	0.842;0.756;0.243;0.376	P;B;B;B	0.47645	0.553;0.351;0.09;0.079	T	0.76498	-0.2937	10	0.39692	T	0.17	-17.5293	13.3327	0.60497	0.7395:0.2605:0.0:0.0	.	428;456;254;456	F5H6C2;E7EW86;Q6MZX0;Q13099	.;.;.;IFT88_HUMAN	G	456;319;447;456;428	ENSP00000372228:R456G;ENSP00000261632:R447G;ENSP00000323580:R456G;ENSP00000437719:R428G	ENSP00000323580:R456G	R	+	1	2	IFT88	20103194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.496000	0.35638	0.849000	0.35215	0.533000	0.62120	AGA		0.338	IFT88-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044075.3	NM_006531	
SACS	26278	broad.mit.edu	37	13	23915617	23915617	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr13:23915617T>A	ENST00000382292.3	-	9	2671	c.2398A>T	c.(2398-2400)Atg>Ttg	p.M800L	SACS_ENST00000382298.3_Missense_Mutation_p.M800L|SACS_ENST00000402364.1_Missense_Mutation_p.M50L			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	800					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.M653L(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATAAGTGGCATCTCATCAAAT	0.358																																					p.M800L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2398T	13						.						79.0	79.0	79.0					13																	23915617		2203	4300	6503	22813617	SO:0001583	missense	26278	exon10			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.2398A>T	13.37:g.23915617T>A	ENSP00000371729:p.Met800Leu		22813617	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.42|11.42	1.633512|1.633512	0.29068|0.29068	.|.	.|.	ENSG00000151835|ENSG00000151835	ENST00000455470|ENST00000382292;ENST00000402364;ENST00000382298	.|D;D;D	.|0.86097	.|-1.96;-2.07;-1.96	6.05|6.05	4.85|4.85	0.62838|0.62838	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.73590|0.73590	0.3606|0.3606	L|L	0.31926|0.31926	0.97|0.97	0.35910|0.35910	D|D	0.831066|0.831066	.|B;B	.|0.22746	.|0.074;0.0	.|B;B	.|0.21360	.|0.034;0.0	T|T	0.66456|0.66456	-0.5919|-0.5919	5|10	.|0.02654	.|T	.|1	.|.	10.5988|10.5988	0.45354|0.45354	0.2571:0.0:0.0:0.7429|0.2571:0.0:0.0:0.7429	.|.	.|699;800	.|B2REB1;Q9NZJ4	.|.;SACS_HUMAN	V|L	699|800;50;800	.|ENSP00000371729:M800L;ENSP00000385844:M50L;ENSP00000371735:M800L	.|ENSP00000371729:M800L	D|M	-|-	2|1	0|0	SACS|SACS	22813617|22813617	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.618000|4.618000	0.61211|0.61211	1.089000|1.089000	0.41292|0.41292	-0.341000|-0.341000	0.08007|0.08007	GAT|ATG		0.358	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
PARP4	143	broad.mit.edu	37	13	25060375	25060375	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr13:25060375C>A	ENST00000381989.3	-	11	1388	c.1283G>T	c.(1282-1284)aGc>aTc	p.S428I		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	428	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.S428I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		ACCAAGTTTGCTCAAAAACTC	0.388																																					p.S428I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1283T	13						.						106.0	95.0	99.0					13																	25060375		2203	4300	6503	23958375	SO:0001583	missense	143	exon11			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.1283G>T	13.37:g.25060375C>A	ENSP00000371419:p.Ser428Ile		23958375	NM_006437	O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.434160	0.25813	.	.	ENSG00000102699	ENST00000381989	T	0.14516	2.5	4.56	4.56	0.56223	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.445078	0.23791	U	0.044534	T	0.35393	0.0930	M	0.84948	2.725	0.09310	N	1	D	0.69078	0.997	D	0.64877	0.93	T	0.22034	-1.0228	10	0.62326	D	0.03	-9.2023	8.4511	0.32871	0.0:0.8962:0.0:0.1038	.	428	Q9UKK3	PARP4_HUMAN	I	428	ENSP00000371419:S428I	ENSP00000371419:S428I	S	-	2	0	PARP4	23958375	0.929000	0.31497	0.083000	0.20561	0.067000	0.16453	1.184000	0.32053	2.340000	0.79590	0.557000	0.71058	AGC		0.388	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437	
CENPJ	55835	broad.mit.edu	37	13	25481072	25481072	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr13:25481072T>C	ENST00000381884.4	-	7	1289	c.1104A>G	c.(1102-1104)aaA>aaG	p.K368K	CENPJ_ENST00000545981.1_Silent_p.K368K	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	368					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)	p.K368K(1)		endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TTGGTTTTGCTTTGATTGGCA	0.294																																					p.K368K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1104G	13						.						45.0	43.0	43.0					13																	25481072		2203	4300	6503	24379072	SO:0001819	synonymous_variant	55835	exon7			AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.1104A>G	13.37:g.25481072T>C			24379072	NM_018451	Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Silent	SNP	ENST00000381884.4	37	CCDS9310.1																																																																																				0.294	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451	
CENPJ	55835	broad.mit.edu	37	13	25481280	25481280	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr13:25481280T>A	ENST00000381884.4	-	6	1211	c.1026A>T	c.(1024-1026)ttA>ttT	p.L342F	CENPJ_ENST00000545981.1_Missense_Mutation_p.L342F	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	342					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)	p.L342F(1)		endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TTTGTTCTTCTAAGTAATCTT	0.343																																					p.L342F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1026T	13						.						161.0	151.0	154.0					13																	25481280		2202	4299	6501	24379280	SO:0001583	missense	55835	exon6			AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.1026A>T	13.37:g.25481280T>A	ENSP00000371308:p.Leu342Phe		24379280	NM_018451	Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	T	17.06	3.292624	0.59976	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.18810	2.19;2.19	5.87	-1.33	0.09172	.	0.187952	0.35067	N	0.003464	T	0.37839	0.1018	M	0.76574	2.34	0.40943	D	0.984481	D	0.76494	0.999	P	0.62435	0.902	T	0.26677	-1.0096	10	0.66056	D	0.02	.	11.4421	0.50102	0.0:0.4383:0.0:0.5617	.	342	Q9HC77	CENPJ_HUMAN	F	342	ENSP00000371308:L342F;ENSP00000441090:L342F	ENSP00000371308:L342F	L	-	3	2	CENPJ	24379280	0.321000	0.24625	0.981000	0.43875	0.988000	0.76386	-0.434000	0.06939	-0.414000	0.07495	0.528000	0.53228	TTA		0.343	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451	
PABPC3	5042	broad.mit.edu	37	13	25670521	25670521	+	Missense_Mutation	SNP	C	C	G	rs374246080		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr13:25670521C>G	ENST00000281589.3	+	1	222	c.185C>G	c.(184-186)aCg>aGg	p.T62R		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	62	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)	p.T62R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TTCCAGCATACGAAGGACGCG	0.532																																					p.T62R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C185G	13						.	C	ARG/THR	0,4406		0,0,2203	87.0	79.0	82.0		185	0.6	0.0	13		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	PABPC3	NM_030979.2	71	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	benign	62/632	25670521	1,13005	2203	4300	6503	24568521	SO:0001583	missense	5042	exon1			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.185C>G	13.37:g.25670521C>G	ENSP00000281589:p.Thr62Arg		24568521	NM_030979	Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.448872	0.26074	0.0	1.16E-4	ENSG00000151846	ENST00000281589	T	0.15487	2.42	0.546	0.546	0.17196	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.39909	U	0.001238	T	0.06280	0.0162	N	0.02854	-0.475	0.21527	N	0.999655	B	0.02656	0.0	B	0.10450	0.005	T	0.31586	-0.9938	10	0.66056	D	0.02	.	6.848	0.23998	0.0:0.9999:0.0:1.0E-4	.	62	Q9H361	PABP3_HUMAN	R	62	ENSP00000281589:T62R	ENSP00000281589:T62R	T	+	2	0	PABPC3	24568521	0.007000	0.16637	0.016000	0.15963	0.157000	0.22087	-1.365000	0.02587	0.558000	0.29135	0.305000	0.20034	ACG		0.532	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979	
MTMR6	9107	broad.mit.edu	37	13	25835855	25835855	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr13:25835855T>A	ENST00000381801.5	-	6	1438	c.677A>T	c.(676-678)aAa>aTa	p.K226I	MTMR6_ENST00000482345.1_5'UTR|MTMR6_ENST00000540661.1_Missense_Mutation_p.K226I	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	226	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.K226I(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		TGGATTGGCTTTACTAATGGC	0.388																																					p.K226I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A677T	13						.						132.0	121.0	125.0					13																	25835855		2203	4300	6503	24733855	SO:0001583	missense	9107	exon6			AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.677A>T	13.37:g.25835855T>A	ENSP00000371221:p.Lys226Ile		24733855	NM_004685	B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Missense_Mutation	SNP	ENST00000381801.5	37	CCDS9313.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.260547	0.80246	.	.	ENSG00000139505	ENST00000540661;ENST00000541021;ENST00000381801	D;D	0.91407	-2.84;-2.84	4.94	4.94	0.65067	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.046508	0.85682	D	0.000000	D	0.93900	0.8048	M	0.80746	2.51	0.80722	D	1	B;B	0.30021	0.265;0.223	P;P	0.46389	0.515;0.481	D	0.93970	0.7248	10	0.62326	D	0.03	.	14.8752	0.70488	0.0:0.0:0.0:1.0	.	226;226	Q9Y217;Q9Y217-2	MTMR6_HUMAN;.	I	226	ENSP00000443161:K226I;ENSP00000371221:K226I	ENSP00000371221:K226I	K	-	2	0	MTMR6	24733855	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	3.431000	0.52814	1.970000	0.57323	0.533000	0.62120	AAA		0.388	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044225.1	NM_004685	
ATP8A2	51761	broad.mit.edu	37	13	26349086	26349086	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr13:26349086T>C	ENST00000381655.2	+	27	2810	c.2668T>C	c.(2668-2670)Tat>Cat	p.Y890H	ATP8A2_ENST00000255283.8_Missense_Mutation_p.Y850H|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	850					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CGTGGTCCTGTATATTATTGA	0.393																																					p.Y890H												.	.	0			c.T2668C	13						.						117.0	101.0	106.0					13																	26349086		1844	4092	5936	25247086	SO:0001583	missense	51761	exon27			AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2668T>C	13.37:g.26349086T>C	ENSP00000371070:p.Tyr890His		25247086	NM_016529	Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.435339	0.83885	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.70516	-0.49;1.1	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.88829	0.6543	H	0.95780	3.72	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.992;0.997;0.997	D	0.92067	0.5661	10	0.87932	D	0	.	15.8331	0.78773	0.0:0.0:0.0:1.0	.	850;670;850	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	H	890;850;670	ENSP00000371070:Y890H;ENSP00000255283:Y850H	ENSP00000255283:Y850H	Y	+	1	0	ATP8A2	25247086	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.823000	0.86660	2.315000	0.78130	0.533000	0.62120	TAT		0.393	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529	
URAD	646625	broad.mit.edu	37	13	28562713	28562713	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr13:28562713G>A	ENST00000332715.5	-	1	78	c.62C>T	c.(61-63)gCc>gTc	p.A21V	RN7SL272P_ENST00000487762.2_RNA	NM_001105577.1	NP_001099047.1	A6NGE7	URAD_HUMAN	ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase	21					allantoin biosynthetic process (GO:0019428)|purine nucleobase metabolic process (GO:0006144)|urate catabolic process (GO:0019628)	peroxisome (GO:0005777)	carboxy-lyase activity (GO:0016831)	p.A21V(1)									TCTCTCAGTGGCATTCCCAAA	0.488																																					p.A21V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C62T	13						.						107.0	112.0	110.0					13																	28562713		2085	4210	6295	27460713	SO:0001583	missense	646625	exon1				CCDS45020.1	13q12.2	2014-04-09	2013-06-18	2013-06-18	ENSG00000183463	ENSG00000183463	4.1.1.n1		17785	protein-coding gene	gene with protein product	"""OHCU decarboxylase"""	615804	"""parahox cluster neighbor"""	PRHOXNB		16462750	Standard	NM_001105577		Approved		uc010aan.1	A6NGE7	OTTHUMG00000186217	ENST00000332715.5:c.62C>T	13.37:g.28562713G>A	ENSP00000333490:p.Ala21Val		27460713	NM_001105577		Missense_Mutation	SNP	ENST00000332715.5	37	CCDS45020.1	.	.	.	.	.	.	.	.	.	.	A	0.021	-1.422503	0.01126	.	.	ENSG00000183463	ENST00000332715	T	0.37058	1.22	5.29	4.09	0.47781	2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline decarboxylase, type 1 (1);Oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline decarboxylase (2);	0.497570	0.19457	N	0.113799	T	0.06050	0.0157	N	0.00093	-2.17	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37126	-0.9719	10	0.02654	T	1	-0.0021	5.6923	0.17837	0.7422:0.1699:0.088:0.0	.	21	A6NGE7	URAD_HUMAN	V	21	ENSP00000333490:A21V	ENSP00000333490:A21V	A	-	2	0	PRHOXNB	27460713	0.015000	0.18098	0.001000	0.08648	0.294000	0.27393	2.291000	0.43540	0.319000	0.23209	-0.254000	0.11334	GCC		0.488	URAD-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472432.1		
FLT1	2321	broad.mit.edu	37	13	28979994	28979994	+	Missense_Mutation	SNP	G	G	C	rs55675306	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr13:28979994G>C	ENST00000282397.4	-	11	1725	c.1474C>G	c.(1474-1476)Ctg>Gtg	p.L492V	FLT1_ENST00000539099.1_Missense_Mutation_p.L492V|FLT1_ENST00000541932.1_Missense_Mutation_p.L492V	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	492	Ig-like C2-type 5.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)	p.L492V(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCAGCATCCAGGATAAAGGAC	0.393																																					p.L492V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1474G	13						.						166.0	161.0	162.0					13																	28979994		2203	4300	6503	27877994	SO:0001583	missense	2321	exon11			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.1474C>G	13.37:g.28979994G>C	ENSP00000282397:p.Leu492Val		27877994	NM_002019	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.474207	0.26423	.	.	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000539099	T;T;T	0.74526	-0.85;-0.27;-0.22	5.73	3.96	0.45880	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.566663	0.17801	N	0.161556	T	0.60996	0.2312	L	0.32530	0.975	0.40643	D	0.981969	B;B;B;B	0.18863	0.019;0.008;0.031;0.016	B;B;B;B	0.21708	0.015;0.015;0.034;0.036	T	0.53906	-0.8372	10	0.15499	T	0.54	.	10.0207	0.42041	0.1199:0.1229:0.7572:0.0	.	492;492;492;492	P17948-4;P17948-3;P17948-2;P17948	.;.;.;VGFR1_HUMAN	V	492	ENSP00000282397:L492V;ENSP00000437631:L492V;ENSP00000442630:L492V	ENSP00000282397:L492V	L	-	1	2	FLT1	27877994	0.993000	0.37304	0.996000	0.52242	0.923000	0.55619	0.778000	0.26732	1.536000	0.49237	0.655000	0.94253	CTG		0.393	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1		
BRCA2	675	broad.mit.edu	37	13	32910987	32910987	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr13:32910987A>G	ENST00000380152.3	+	11	2728	c.2495A>G	c.(2494-2496)gAg>gGg	p.E832G	BRCA2_ENST00000544455.1_Missense_Mutation_p.E832G			P51587	BRCA2_HUMAN	breast cancer 2, early onset	832	Interaction with NPM1.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.E832G(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAAAACGTTGAGCTGTTGCCA	0.303			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											p.E832G	Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2495G	13						.						57.0	60.0	59.0					13																	32910987		2202	4298	6500	31808987	SO:0001583	missense	675	exon11	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.2495A>G	13.37:g.32910987A>G	ENSP00000369497:p.Glu832Gly		31808987	NM_000059	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	11.04	1.522600	0.27211	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.69040	-0.37;-0.37	5.58	3.02	0.34903	.	0.812302	0.11148	N	0.594480	T	0.54255	0.1847	L	0.31926	0.97	0.09310	N	1	B	0.18461	0.028	B	0.15870	0.014	T	0.42378	-0.9455	10	0.33940	T	0.23	.	10.214	0.43158	0.8587:0.0:0.1413:0.0	.	832	P51587	BRCA2_HUMAN	G	832	ENSP00000369497:E832G;ENSP00000439902:E832G	ENSP00000369497:E832G	E	+	2	0	BRCA2	31808987	0.391000	0.25221	0.003000	0.11579	0.048000	0.14542	2.461000	0.45040	0.895000	0.36342	0.482000	0.46254	GAG		0.303	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059	
PDS5B	23047	broad.mit.edu	37	13	33281086	33281086	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr13:33281086A>G	ENST00000315596.10	+	18	2058	c.1872A>G	c.(1870-1872)caA>caG	p.Q624Q		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	624					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.Q624Q(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TTATTAAACAAGTGAACAAAT	0.343																																					p.Q624Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1872G	13						.						92.0	89.0	90.0					13																	33281086		1868	4095	5963	32179086	SO:0001819	synonymous_variant	23047	exon18			AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.1872A>G	13.37:g.33281086A>G			32179086	NM_015032	Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Silent	SNP	ENST00000315596.10	37	CCDS41878.1																																																																																				0.343	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032	
TRPC4	7223	broad.mit.edu	37	13	38211653	38211653	+	Missense_Mutation	SNP	G	G	A	rs186177283		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr13:38211653G>A	ENST00000379705.3	-	11	3178	c.2321C>T	c.(2320-2322)tCg>tTg	p.S774L	TRPC4_ENST00000379681.3_Missense_Mutation_p.S779L|TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000355779.2_Intron|TRPC4_ENST00000379673.2_Missense_Mutation_p.S709L|TRPC4_ENST00000338947.5_Missense_Mutation_p.S601L|TRPC4_ENST00000358477.2_Missense_Mutation_p.S774L|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379679.1_Missense_Mutation_p.S601L			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	774	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.S779L(1)|p.S774L(1)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TGAGTCTGCCGAATTTGAAGA	0.408													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18144	0.0		0.0	False		,,,				2504	0.0				p.S709L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2126T	13						.						64.0	64.0	64.0					13																	38211653		2203	4299	6502	37109653	SO:0001583	missense	7223	exon10			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.2321C>T	13.37:g.38211653G>A	ENSP00000369027:p.Ser774Leu		37109653	NM_001135956	B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	CCDS9365.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	9.253	1.041237	0.19669	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000358477;ENST00000379673	T;T;T;T;T;T	0.70045	-0.11;-0.12;0.11;0.11;-0.17;-0.45	5.7	4.85	0.62838	.	1.341660	0.04803	N	0.433865	T	0.42086	0.1187	N	0.02011	-0.69	0.27096	N	0.962741	B;B;B;B;B	0.09022	0.0;0.0;0.002;0.0;0.0	B;B;B;B;B	0.06405	0.0;0.0;0.002;0.0;0.0	T	0.22173	-1.0224	10	0.25106	T	0.35	-4.1517	8.4612	0.32929	0.1857:0.0:0.8143:0.0	.	709;779;601;774;774	Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;TRPC4_HUMAN	L	774;779;601;601;774;709	ENSP00000369027:S774L;ENSP00000369003:S779L;ENSP00000342580:S601L;ENSP00000369001:S601L;ENSP00000351264:S774L;ENSP00000368995:S709L	ENSP00000342580:S601L	S	-	2	0	TRPC4	37109653	0.090000	0.21635	0.017000	0.16124	0.854000	0.48673	3.066000	0.50002	2.677000	0.91161	0.563000	0.77884	TCG		0.408	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306	
ELF1	1997	broad.mit.edu	37	13	41515153	41515153	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr13:41515153T>C	ENST00000239882.3	-	8	1474	c.1160A>G	c.(1159-1161)cAt>cGt	p.H387R	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.H363R	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	387					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H387R(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CTGTACTACATGAACAGTCCG	0.483																																					p.H387R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1160G	13						.						118.0	112.0	114.0					13																	41515153		2203	4300	6503	40413153	SO:0001583	missense	1997	exon8			M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.1160A>G	13.37:g.41515153T>C	ENSP00000239882:p.His387Arg		40413153	NM_172373	B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Missense_Mutation	SNP	ENST00000239882.3	37	CCDS9374.1	.	.	.	.	.	.	.	.	.	.	T	19.89	3.911438	0.72983	.	.	ENSG00000120690	ENST00000442101;ENST00000379498;ENST00000239882	T;T	0.71461	-0.57;-0.57	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.77980	0.4212	L	0.36672	1.1	0.50632	D	0.99988	D;D	0.89917	0.999;1.0	D;D	0.83275	0.994;0.996	T	0.77760	-0.2467	10	0.42905	T	0.14	.	16.021	0.80493	0.0:0.0:0.0:1.0	.	363;387	E9PDQ9;P32519	.;ELF1_HUMAN	R	363;129;387	ENSP00000405580:H363R;ENSP00000239882:H387R	ENSP00000239882:H387R	H	-	2	0	ELF1	40413153	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	4.481000	0.60250	2.240000	0.73641	0.533000	0.62120	CAT		0.483	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3	NM_172373	
NAA16	79612	broad.mit.edu	37	13	41943362	41943362	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr13:41943362A>T	ENST00000379406.3	+	15	2214	c.1890A>T	c.(1888-1890)gaA>gaT	p.E630D	NAA16_ENST00000497143.1_3'UTR	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	630					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)	p.E630D(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						aaagagatgaagaagaagaag	0.348																																					p.E630D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1890T	13						.						62.0	65.0	64.0					13																	41943362		2203	4300	6503	40841362	SO:0001583	missense	79612	exon15			AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"""N(alpha)-acetyltransferase subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	26164	protein-coding gene	gene with protein product			"""NMDA receptor regulated 1-like"""	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.1890A>T	13.37:g.41943362A>T	ENSP00000368716:p.Glu630Asp		40841362	NM_024561	B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	ENST00000379406.3	37	CCDS9379.1	.	.	.	.	.	.	.	.	.	.	A	4.283	0.051615	0.08291	.	.	ENSG00000172766	ENST00000379406	T	0.43294	0.95	5.45	-10.9	0.00192	.	0.720289	0.13183	N	0.407372	T	0.08179	0.0204	N	0.01729	-0.75	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40175	-0.9577	10	0.02654	T	1	-1.737	3.2127	0.06689	0.2629:0.0742:0.1396:0.5233	.	630	Q6N069	NAA16_HUMAN	D	630	ENSP00000368716:E630D	ENSP00000368716:E630D	E	+	3	2	NAA16	40841362	0.095000	0.21747	0.591000	0.28745	0.982000	0.71751	-0.660000	0.05317	-2.056000	0.00898	-1.139000	0.01908	GAA		0.348	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2	NM_018527	
RB1	5925	broad.mit.edu	37	13	49033853	49033853	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr13:49033853A>G	ENST00000267163.4	+	20	2128	c.1990A>G	c.(1990-1992)Aca>Gca	p.T664A		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	664	Domain B.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)|p.T664A(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)"""	CCGGCTAAATACACTTTGTGA	0.383		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)																											p.T664A		yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	.	.	27	Whole gene deletion(15)|Unknown(11)|Substitution - Missense(1)	bone(10)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|adrenal_gland(1)|large_intestine(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)	c.A1990G	13						.						92.0	94.0	94.0					13																	49033853		2203	4300	6503	47931854	SO:0001583	missense	5925	exon20	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.1990A>G	13.37:g.49033853A>G	ENSP00000267163:p.Thr664Ala		47931854	NM_000321	A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	A	11.84	1.757528	0.31137	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.90563	-2.69	5.7	4.45	0.53987	Retinoblastoma-associated protein, B-box (1);Cyclin-like (3);	0.193713	0.44483	D	0.000443	D	0.87414	0.6171	L	0.53249	1.67	0.35787	D	0.822075	B	0.23442	0.085	B	0.22880	0.042	D	0.88158	0.2855	10	0.49607	T	0.09	-12.1243	11.7177	0.51663	0.8678:0.0:0.0:0.1322	.	664	P06400	RB_HUMAN	A	643;664	ENSP00000267163:T664A	ENSP00000267163:T664A	T	+	1	0	RB1	47931854	1.000000	0.71417	0.936000	0.37596	0.464000	0.32679	4.722000	0.61958	2.179000	0.69175	0.477000	0.44152	ACA		0.383	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
INTS6	26512	broad.mit.edu	37	13	51950276	51950276	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr13:51950276T>C	ENST00000311234.4	-	13	2109	c.1637A>G	c.(1636-1638)gAc>gGc	p.D546G	INTS6_ENST00000497989.1_Missense_Mutation_p.D368G|INTS6_ENST00000490542.1_Missense_Mutation_p.D230G|INTS6_ENST00000425000.1_Missense_Mutation_p.D114G|INTS6_ENST00000463928.1_Intron|INTS6_ENST00000398119.2_Missense_Mutation_p.D533G	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	546					signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)	p.D546G(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		TCTTGGTATGTCATAAGCATT	0.343																																					p.D546G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1637G	13						.						83.0	80.0	81.0					13																	51950276		2203	4299	6502	50848277	SO:0001583	missense	26512	exon13			AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"""DEAD-boxes"""	14879	protein-coding gene	gene with protein product		604331	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"""	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.1637A>G	13.37:g.51950276T>C	ENSP00000310260:p.Asp546Gly		50848277	NM_012141	Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Missense_Mutation	SNP	ENST00000311234.4	37	CCDS9428.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.907369	0.92107	.	.	ENSG00000102786	ENST00000311234;ENST00000398119;ENST00000497989;ENST00000425000;ENST00000490542	T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.75961	0.3921	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80765	-0.1236	10	0.72032	D	0.01	-13.219	14.7523	0.69536	0.0:0.0:0.0:1.0	.	546	Q9UL03	INT6_HUMAN	G	546;533;368;114;230	ENSP00000310260:D546G;ENSP00000381187:D533G;ENSP00000419871:D368G;ENSP00000406915:D114G;ENSP00000419984:D230G	ENSP00000310260:D546G	D	-	2	0	INTS6	50848277	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.040000	0.89188	2.085000	0.62840	0.528000	0.53228	GAC		0.343	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045023.1	NM_012141	
ATP7B	540	broad.mit.edu	37	13	52542682	52542682	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr13:52542682C>A	ENST00000242839.4	-	4	1761	c.1605G>T	c.(1603-1605)gaG>gaT	p.E535D	ATP7B_ENST00000448424.2_Missense_Mutation_p.E535D|ATP7B_ENST00000400366.3_Missense_Mutation_p.E424D|ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000418097.2_Missense_Mutation_p.E535D|ATP7B_ENST00000344297.5_Missense_Mutation_p.E535D|ATP7B_ENST00000482841.1_5'UTR	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	535	HMA 5. {ECO:0000255|PROSITE- ProRule:PRU00280}.				cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)	p.E535D(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	GCTGGATGACCTCTGGGTCAT	0.547									Wilson disease																												p.E535D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1605T	13						.						114.0	117.0	116.0					13																	52542682		2110	4207	6317	51440683	SO:0001583	missense	540	exon4	Familial Cancer Database		U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.1605G>T	13.37:g.52542682C>A	ENSP00000242839:p.Glu535Asp		51440683	NM_000053	Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	C	0.724	-0.782595	0.02907	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000448424;ENST00000418097	D;D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19;-2.19	5.68	-10.5	0.00291	Heavy metal-associated domain, HMA (3);Heavy metal-associated domain, copper ion-binding (1);	0.447428	0.28821	N	0.014034	T	0.58466	0.2124	N	0.05619	-0.005	0.09310	N	0.999996	B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.001;0.0;0.0	B;B;B;B;B;B	0.10450	0.0;0.0;0.002;0.002;0.005;0.0	T	0.60576	-0.7236	10	0.12430	T	0.62	-6.0211	3.1832	0.06592	0.138:0.1289:0.2829:0.4502	.	535;535;535;424;535;535	E7ET55;B7ZLR4;F5H748;P35670-3;P35670-2;P35670	.;.;.;.;.;ATP7B_HUMAN	D	535;424;535;535;535	ENSP00000242839:E535D;ENSP00000383217:E424D;ENSP00000342559:E535D;ENSP00000416738:E535D;ENSP00000393343:E535D	ENSP00000242839:E535D	E	-	3	2	ATP7B	51440683	0.000000	0.05858	0.007000	0.13788	0.001000	0.01503	-2.627000	0.00874	-1.662000	0.01482	-1.105000	0.02106	GAG		0.547	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053	
LECT1	11061	broad.mit.edu	37	13	53313766	53313766	+	Splice_Site	DEL	G	G	-	rs370653677		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr13:53313766delG	ENST00000377962.3	-	1	149	c.71delC	c.(70-72)ccg>cg	p.P24fs	LECT1_ENST00000448904.2_Splice_Site_p.P24fs			O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	24					cartilage development (GO:0051216)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|proteoglycan metabolic process (GO:0006029)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)		p.P24fs*6(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		GGTACTCACCGGGGGGCTGCA	0.592																																					p.P24fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.71delC	13						.						119.0	116.0	117.0					13																	53313766		2203	4300	6503	52211767	SO:0001630	splice_region_variant	11061	exon1			AB006000	CCDS9437.1, CCDS45051.1	13q14.3	2012-10-10			ENSG00000136110	ENSG00000136110		"""BRICHOS domain containing"""	17005	protein-coding gene	gene with protein product	"""BRICHOS domain containing 3"""	605147	"""multiple myeloma tumor suppressor 1"""	MYETS1		9731231, 10103018	Standard	XM_006719760		Approved	CHM-I, CHM1, chondromodulin, BRICD3	uc001vhf.2	O75829	OTTHUMG00000016980	ENST00000377962.3:c.72+1C>-	13.37:g.53313766delG			52211767	NM_001011705	Q5TAM4|Q8TAY6|Q9UM18	Frame_Shift_Del	DEL	ENST00000377962.3	37	CCDS9437.1																																																																																				0.592	LECT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045110.3		Frame_Shift_Del
PCDH17	27253	broad.mit.edu	37	13	58206915	58206915	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr13:58206915G>A	ENST00000377918.3	+	1	261	c.235G>A	c.(235-237)Gca>Aca	p.A79T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	79	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A79T(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GGACGTGGACGCAGACAGCGG	0.682																																					p.A79T	Melanoma(72;952 1291 1619 12849 33676)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G235A	13						.						38.0	34.0	35.0					13																	58206915		2203	4300	6503	57104916	SO:0001583	missense	27253	exon1			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.235G>A	13.37:g.58206915G>A	ENSP00000367151:p.Ala79Thr		57104916	NM_001040429	A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.554536	0.45487	.	.	ENSG00000118946	ENST00000377918	T	0.15487	2.42	5.55	4.69	0.59074	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.276882	0.41194	D	0.000923	T	0.13713	0.0332	L	0.27975	0.815	0.31172	N	0.703045	P;P	0.39520	0.676;0.518	B;B	0.38921	0.285;0.217	T	0.04565	-1.0942	9	.	.	.	.	14.8655	0.70412	0.0:0.2726:0.7274:0.0	.	79;79	O14917-2;O14917	.;PCD17_HUMAN	T	79	ENSP00000367151:A79T	.	A	+	1	0	PCDH17	57104916	0.931000	0.31567	0.944000	0.38274	0.985000	0.73830	3.847000	0.55895	1.552000	0.49463	0.655000	0.94253	GCA		0.682	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429	
PCDH17	27253	broad.mit.edu	37	13	58208694	58208694	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr13:58208694A>G	ENST00000377918.3	+	1	2040	c.2014A>G	c.(2014-2016)Acc>Gcc	p.T672A		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	672	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T672A(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CGGCAAGCCTACCCTGTCCGC	0.662																																					p.T672A	Melanoma(72;952 1291 1619 12849 33676)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2014G	13						.						88.0	86.0	86.0					13																	58208694		2203	4300	6503	57106695	SO:0001583	missense	27253	exon1			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2014A>G	13.37:g.58208694A>G	ENSP00000367151:p.Thr672Ala		57106695	NM_001040429	A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	A	6.996	0.553849	0.13374	.	.	ENSG00000118946	ENST00000377918	T	0.50001	0.76	5.32	2.89	0.33648	Cadherin (4);Cadherin-like (1);	0.215245	0.48286	D	0.000189	T	0.15998	0.0385	N	0.01482	-0.84	0.32627	N	0.522563	B;B	0.12013	0.004;0.005	B;B	0.14578	0.011;0.007	T	0.12915	-1.0529	9	.	.	.	.	5.1222	0.14865	0.6444:0.0:0.0747:0.2809	.	672;672	O14917-2;O14917	.;PCD17_HUMAN	A	672	ENSP00000367151:T672A	.	T	+	1	0	PCDH17	57106695	0.998000	0.40836	1.000000	0.80357	0.910000	0.53928	3.553000	0.53713	0.831000	0.34780	0.459000	0.35465	ACC		0.662	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429	
PCDH17	27253	broad.mit.edu	37	13	58299136	58299136	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr13:58299136C>A	ENST00000377918.3	+	4	3214	c.3188C>A	c.(3187-3189)gCc>gAc	p.A1063D		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1063					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A1063D(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AAACCAGGAGCCCTGGCTGAA	0.542																																					p.A1063D	Melanoma(72;952 1291 1619 12849 33676)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3188A	13						.						87.0	85.0	86.0					13																	58299136		2203	4300	6503	57197137	SO:0001583	missense	27253	exon4			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.3188C>A	13.37:g.58299136C>A	ENSP00000367151:p.Ala1063Asp		57197137	NM_001040429	A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.415647	0.25552	.	.	ENSG00000118946	ENST00000377918	T	0.52526	0.66	6.07	5.23	0.72850	.	0.123453	0.56097	D	0.000030	T	0.23572	0.0570	N	0.08118	0	0.27203	N	0.960114	B	0.34214	0.442	B	0.26517	0.07	T	0.11421	-1.0588	9	.	.	.	.	10.7281	0.46081	0.0:0.7997:0.1327:0.0677	.	1063	O14917	PCD17_HUMAN	D	1063	ENSP00000367151:A1063D	.	A	+	2	0	PCDH17	57197137	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.221000	0.51215	1.561000	0.49584	-0.175000	0.13238	GCC		0.542	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429	
PCDH9	5101	broad.mit.edu	37	13	67801990	67801990	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr13:67801990T>G	ENST00000377865.2	-	1	717	c.583A>C	c.(583-585)Act>Cct	p.T195P	PCDH9_ENST00000544246.1_Missense_Mutation_p.T195P|PCDH9_ENST00000456367.1_Missense_Mutation_p.T195P|PCDH9_ENST00000328454.5_Missense_Mutation_p.T195P|PCDH9_ENST00000377861.3_Missense_Mutation_p.T195P			Q9HC56	PCDH9_HUMAN	protocadherin 9	195	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T195P(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CCCTCTGGAGTTTCCACGATA	0.423																																					p.T195P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A583C	13						.						137.0	138.0	138.0					13																	67801990		2203	4300	6503	66699991	SO:0001583	missense	5101	exon2			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.583A>C	13.37:g.67801990T>G	ENSP00000367096:p.Thr195Pro		66699991	NM_020403	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	T	15.56	2.869509	0.51588	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69	6.17	6.17	0.99709	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.63570	0.2522	L	0.52126	1.63	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;1.0;1.0;1.0	T	0.58509	-0.7624	10	0.30078	T	0.28	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	195;195;195;195	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	P	195	ENSP00000442186:T195P;ENSP00000367096:T195P;ENSP00000401699:T195P;ENSP00000332060:T195P;ENSP00000367092:T195P	ENSP00000332060:T195P	T	-	1	0	PCDH9	66699991	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	ACT		0.423	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487	
BORA	79866	broad.mit.edu	37	13	73321161	73321161	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr13:73321161G>A	ENST00000390667.5	+	10	1491	c.1394G>A	c.(1393-1395)gGc>gAc	p.G465D	BORA_ENST00000377815.3_Missense_Mutation_p.G395D	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	465					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of mitosis (GO:0007088)|regulation of mitotic spindle organization (GO:0060236)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)	protein kinase binding (GO:0019901)	p.G465D(1)									TTTGTAAGTGGCATTGCCTTC	0.408																																					p.G465D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1394A	13						.						204.0	191.0	195.0					13																	73321161		1924	4132	6056	72219162	SO:0001583	missense	79866	exon10			BC025367	CCDS9446.1, CCDS66560.1, CCDS9446.2, CCDS73583.1	13q22.1	2013-08-13	2011-08-09	2011-08-09	ENSG00000136122	ENSG00000136122			24724	protein-coding gene	gene with protein product		610510	"""chromosome 13 open reading frame 34"""	C13orf34		16890155, 18378770, 18566290, 19487276	Standard	NM_001286746		Approved	FLJ22624	uc001viv.1	Q6PGQ7	OTTHUMG00000017068	ENST00000390667.5:c.1394G>A	13.37:g.73321161G>A	ENSP00000375082:p.Gly465Asp		72219162	NM_024808	B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Missense_Mutation	SNP	ENST00000390667.5	37	CCDS9446.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816760	0.70912	.	.	ENSG00000136122	ENST00000377815;ENST00000390667	T;T	0.48522	0.81;0.81	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.68760	0.3036	M	0.70275	2.135	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.66460	-0.5918	10	0.38643	T	0.18	-17.7864	18.5105	0.90914	0.0:0.0:1.0:0.0	.	395;465;525;465	B4DQ30;A8K631;B5LMG6;Q6PGQ7	.;.;.;BORA_HUMAN	D	395;465	ENSP00000367046:G395D;ENSP00000375082:G465D	ENSP00000367046:G395D	G	+	2	0	BORA	72219162	1.000000	0.71417	0.995000	0.50966	0.571000	0.35966	6.773000	0.75006	2.600000	0.87896	0.655000	0.94253	GGC		0.408	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045245.3	NM_024808	
LMO7	4008	broad.mit.edu	37	13	76427279	76427279	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr13:76427279G>A	ENST00000321797.8	+	26	4438	c.3717G>A	c.(3715-3717)caG>caA	p.Q1239Q	LMO7_ENST00000357063.3_Silent_p.Q1524Q|LMO7_ENST00000465261.2_Silent_p.Q1239Q|LMO7_ENST00000526202.1_Silent_p.Q1116Q|LMO7_ENST00000341547.4_Silent_p.Q1190Q|LMO7_ENST00000377534.3_Silent_p.Q1524Q			Q8WWI1	LMO7_HUMAN	LIM domain 7	1524					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q1524Q(1)|p.Q1190Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CTTGGAGACAGCCTCCTTGGC	0.473																																					p.Q1239Q												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G3717A	13						.						91.0	88.0	89.0					13																	76427279		2203	4300	6503	75325280	SO:0001819	synonymous_variant	4008	exon25			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.3717G>A	13.37:g.76427279G>A			75325280	NM_015842	E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Silent	SNP	ENST00000321797.8	37																																																																																					0.473	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358	
MYCBP2	23077	broad.mit.edu	37	13	77626053	77626053	+	Splice_Site	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr13:77626053C>T	ENST00000544440.2	-	81	13551	c.13534G>A	c.(13534-13536)Gca>Aca	p.A4512T	MYCBP2_ENST00000407578.2_Splice_Site_p.A4550T|MYCBP2_ENST00000357337.6_Splice_Site_p.A4512T					MYC binding protein 2, E3 ubiquitin protein ligase									p.A4512T(1)|p.A4550T(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCAAAATATGCCTGTGGAGAA	0.458																																					p.A4550T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G13648A	13						.						56.0	53.0	54.0					13																	77626053		2203	4300	6503	76524054	SO:0001630	splice_region_variant	23077	exon81			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.13534-1G>A	13.37:g.77626053C>T			76524054	NM_015057		Missense_Mutation	SNP	ENST00000544440.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.182306|5.182306	0.94885|0.94885	.|.	.|.	ENSG00000005810|ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440|ENST00000429715	T;T;T|.	0.33865|.	1.39;1.39;1.39|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.056691|.	0.64402|.	N|.	0.000001|.	D|D	0.82646|0.82646	0.5082|0.5082	M|M	0.83012|0.83012	2.62|2.62	0.80722|0.80722	D|D	1|1	D|.	0.63880|.	0.993|.	D|.	0.70935|.	0.971|.	T|T	0.83072|0.83072	-0.0142|-0.0142	10|5	0.87932|.	D|.	0|.	.|.	19.8309|19.8309	0.96634|0.96634	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	4512|.	O75592|.	MYCB2_HUMAN|.	T|D	4512;4550;4512|932	ENSP00000349892:A4512T;ENSP00000384288:A4550T;ENSP00000444596:A4512T|.	ENSP00000349892:A4512T|.	A|G	-|-	1|2	0|0	MYCBP2|MYCBP2	76524054|76524054	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.878000|0.878000	0.50629|0.50629	7.256000|7.256000	0.78350|0.78350	2.681000|2.681000	0.91329|0.91329	0.650000|0.650000	0.86243|0.86243	GCA|GGC		0.458	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057	Missense_Mutation
SLITRK1	114798	broad.mit.edu	37	13	84453881	84453881	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr13:84453881T>C	ENST00000377084.2	-	1	2647	c.1762A>G	c.(1762-1764)Acg>Gcg	p.T588A		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	588					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.T588A(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GAAGTTAACGTGGGCGAGATC	0.542																																					p.T588A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1762G	13						.						95.0	83.0	87.0					13																	84453881		2203	4300	6503	83351882	SO:0001583	missense	114798	exon1			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1762A>G	13.37:g.84453881T>C	ENSP00000366288:p.Thr588Ala		83351882	NM_052910	Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	T	14.92	2.678168	0.47886	.	.	ENSG00000178235	ENST00000377084	T	0.59364	0.27	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.37892	0.1020	N	0.11427	0.14	0.50632	D	0.999886	P	0.48998	0.918	B	0.41236	0.351	T	0.26467	-1.0102	10	0.19590	T	0.45	-7.7098	14.5694	0.68202	0.0:0.0:0.0:1.0	.	588	Q96PX8	SLIK1_HUMAN	A	588	ENSP00000366288:T588A	ENSP00000366288:T588A	T	-	1	0	SLITRK1	83351882	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.080000	0.57620	2.187000	0.69744	0.533000	0.62120	ACG		0.542	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910	
DCT	1638	broad.mit.edu	37	13	95131317	95131317	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr13:95131317G>C	ENST00000377028.5	-	1	606	c.193C>G	c.(193-195)Cga>Gga	p.R65G	DCT_ENST00000446125.1_Missense_Mutation_p.R65G	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	65					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)	p.R65G(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GTGTCGGCTCGCACCTCTGTG	0.607																																					p.R65G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C193G	13						.						76.0	66.0	70.0					13																	95131317		2203	4300	6503	93929318	SO:0001583	missense	1638	exon1			D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.193C>G	13.37:g.95131317G>C	ENSP00000366227:p.Arg65Gly		93929318	NM_001922	Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	37	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	G	6.519	0.463999	0.12402	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.84070	-1.8;-1.8	5.22	2.26	0.28386	.	0.707775	0.14462	N	0.318087	T	0.74574	0.3734	L	0.40543	1.245	0.09310	N	0.999999	B;B	0.15473	0.013;0.011	B;B	0.19148	0.024;0.009	T	0.58674	-0.7595	10	0.23891	T	0.37	-0.0317	10.9505	0.47325	0.0:0.3965:0.4673:0.1362	.	65;65	Q09GT4;P40126	.;TYRP2_HUMAN	G	65	ENSP00000366227:R65G;ENSP00000392762:R65G	ENSP00000366227:R65G	R	-	1	2	DCT	93929318	0.997000	0.39634	0.112000	0.21494	0.573000	0.36030	2.864000	0.48404	0.544000	0.28883	0.650000	0.86243	CGA		0.607	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3		
CLDN10	9071	broad.mit.edu	37	13	96086218	96086218	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr13:96086218A>G	ENST00000376873.3	+	1	361	c.131A>G	c.(130-132)tAc>tGc	p.Y44C		NM_001160100.1|NM_182848.3	NP_001153572.1|NP_878268.1	P78369	CLD10_HUMAN	claudin 10	46					calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|ion transport (GO:0006811)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.Y44C(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			ACTTGGGTTTACCAGGGTCTG	0.507																																					p.Y44C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A131G	13						.						125.0	115.0	118.0					13																	96086218		2203	4300	6503	94884219	SO:0001583	missense	9071	exon1			U89916	CCDS9475.1, CCDS9476.1	13q31-q34	2008-07-18			ENSG00000134873	ENSG00000134873		"""Claudins"""	2033	protein-coding gene	gene with protein product						18025272	Standard	NM_182848		Approved	OSP-L, CPETRL3	uc001vmh.2	P78369	OTTHUMG00000017217	ENST00000376873.3:c.131A>G	13.37:g.96086218A>G	ENSP00000366069:p.Tyr44Cys		94884219	NM_001160100	Q6IBF9|Q96N78	Missense_Mutation	SNP	ENST00000376873.3	37	CCDS9475.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.256050	0.80246	.	.	ENSG00000134873	ENST00000376873	D	0.89552	-2.53	5.44	4.11	0.48088	.	.	.	.	.	D	0.91277	0.7250	.	.	.	0.80722	D	1	D	0.59767	0.986	P	0.58391	0.838	D	0.91278	0.5049	8	0.87932	D	0	.	8.0672	0.30667	0.6982:0.0:0.0:0.3018	.	44	Q96N78	.	C	44	ENSP00000366069:Y44C	ENSP00000366069:Y44C	Y	+	2	0	CLDN10	94884219	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.061000	0.71148	2.190000	0.69967	0.460000	0.39030	TAC		0.507	CLDN10-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045483.3	NM_006984	
IPO5	3843	broad.mit.edu	37	13	98655238	98655238	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr13:98655238T>C	ENST00000490680.1	+	13	1509	c.1444T>C	c.(1444-1446)Ttg>Ctg	p.L482L	IPO5_ENST00000261574.5_Silent_p.L500L|IPO5_ENST00000539640.1_Silent_p.L357L			O00410	IPO5_HUMAN	importin 5	482					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)	p.L500L(1)		breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TATTCCATACTTGGATAATTT	0.418																																					p.L500L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1498C	13						.						156.0	149.0	151.0					13																	98655238		2203	4300	6503	97453239	SO:0001819	synonymous_variant	3843	exon16			U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.1444T>C	13.37:g.98655238T>C			97453239	NM_002271	B4DZA0|O15257|Q5T578|Q86XC7	Silent	SNP	ENST00000490680.1	37																																																																																					0.418	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271	
CLYBL	171425	broad.mit.edu	37	13	100523207	100523207	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr13:100523207A>G	ENST00000376360.1	+	7	845	c.818A>G	c.(817-819)cAc>cGc	p.H273R	CLYBL_ENST00000376354.1_Missense_Mutation_p.H239R|CLYBL_ENST00000339105.4_Missense_Mutation_p.H273R|CLYBL_ENST00000376355.3_Missense_Mutation_p.H239R|CLYBL_ENST00000444838.2_Missense_Mutation_p.H239R			Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	273						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|metal ion binding (GO:0046872)	p.H273R(1)		NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGGTGATTCACCCTAACCAA	0.413																																					p.H273R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A818G	13						.						135.0	122.0	126.0					13																	100523207		2203	4300	6503	99321208	SO:0001583	missense	171425	exon7			AF428253	CCDS32002.1	13q32.3	2011-04-08			ENSG00000125246	ENSG00000125246			18355	protein-coding gene	gene with protein product		609686					Standard	XM_005254030		Approved	CLB	uc001vok.3	Q8N0X4	OTTHUMG00000017278	ENST00000376360.1:c.818A>G	13.37:g.100523207A>G	ENSP00000365538:p.His273Arg		99321208	NM_206808	Q5W0F7|Q8TDH8	Missense_Mutation	SNP	ENST00000376360.1	37	CCDS32002.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.112205	0.77210	.	.	ENSG00000125246	ENST00000376355;ENST00000376360;ENST00000444838;ENST00000376354;ENST00000339105;ENST00000419700	T;T;T;T;T;T	0.61274	1.11;1.11;1.11;1.11;1.11;0.12	5.63	5.63	0.86233	Aldehyde-lyase domain (1);Pyruvate/Phosphoenolpyruvate kinase (2);	0.000000	0.85682	D	0.000000	T	0.82259	0.4998	H	0.94423	3.535	0.80722	D	1	D;D	0.71674	0.998;0.991	D;D	0.70016	0.967;0.951	D	0.87562	0.2472	10	0.87932	D	0	-0.3089	15.8398	0.78837	1.0:0.0:0.0:0.0	.	239;273	B4DU60;Q8N0X4	.;CLYBL_HUMAN	R	239;273;239;239;273;36	ENSP00000365533:H239R;ENSP00000365538:H273R;ENSP00000404768:H239R;ENSP00000365532:H239R;ENSP00000342991:H273R;ENSP00000396574:H36R	ENSP00000342991:H273R	H	+	2	0	CLYBL	99321208	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.614000	0.90917	2.126000	0.65437	0.533000	0.62120	CAC		0.413	CLYBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045611.1		
PCCA	5095	broad.mit.edu	37	13	101077940	101077940	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr13:101077940G>A	ENST00000376285.1	+	20	1838	c.1800G>A	c.(1798-1800)tcG>tcA	p.S600S	PCCA_ENST00000376279.3_Silent_p.S600S|PCCA_ENST00000376286.4_Silent_p.S574S	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	600					biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)	p.S600S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	ACCTGGCTTCGCCCTTATTGT	0.473																																					p.S600S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1800A	13						.						172.0	145.0	154.0					13																	101077940		2203	4300	6503	99875941	SO:0001819	synonymous_variant	5095	exon20			X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"""propionyl Coenzyme A carboxylase, alpha polypeptide"""			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.1800G>A	13.37:g.101077940G>A			99875941	NM_001178004	B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Silent	SNP	ENST00000376285.1	37	CCDS9496.2	.	.	.	.	.	.	.	.	.	.	A	3.163	-0.171672	0.06421	.	.	ENSG00000175198	ENST00000536640;ENST00000458283;ENST00000413170	.	.	.	5.7	-3.02	0.05446	.	.	.	.	.	T	0.50803	0.1637	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45702	-0.9243	4	.	.	.	.	7.4592	0.27285	0.5451:0.1129:0.342:0.0	.	.	.	.	T	96;53;44	.	.	A	+	1	0	PCCA	99875941	0.939000	0.31865	0.143000	0.22291	0.467000	0.32768	0.072000	0.14617	-0.566000	0.06054	-0.127000	0.14921	GCC		0.473	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045627.2		
CUL4A	8451	broad.mit.edu	37	13	113899322	113899323	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	AA	AA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr13:113899322_113899323delAA	ENST00000375440.4	+	13	1477_1478	c.1393_1394delAA	c.(1393-1395)aaafs	p.K465fs	CUL4A_ENST00000451881.1_Frame_Shift_Del_p.K365fs|CUL4A_ENST00000375441.3_Frame_Shift_Del_p.K365fs|CUL4A_ENST00000326335.4_Frame_Shift_Del_p.K365fs	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	465					cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)		p.S366fs*6(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			CCTTGTTGGGAAAAGTGCCTCA	0.426																																					p.465_465del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1393_1394del	13						.																																			112947324	SO:0001589	frameshift_variant	8451	exon13			U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.1393_1394delAA	13.37:g.113899324_113899325delAA	ENSP00000364589:p.Lys465fs		112947323	NM_001008895	A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Frame_Shift_Del	DEL	ENST00000375440.4	37	CCDS41908.1																																																																																				0.426	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045888.3	NM_003589	
TFDP1	7027	broad.mit.edu	37	13	114288916	114288916	+	Splice_Site	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr13:114288916A>G	ENST00000375370.5	+	8	898	c.686A>G	c.(685-687)cAg>cGg	p.Q229R	TFDP1_ENST00000544902.1_Splice_Site_p.Q134R|TFDP1_ENST00000538138.1_Splice_Site_p.Q134R	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	229	DCB1.|Dimerization. {ECO:0000255}.|Enhances binding of RB protein to E2F.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.Q229R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			CTTATTCTACAGGTAAGAGAA	0.378										TSP Lung(29;0.18)																											p.Q229R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A686G	13						.						115.0	123.0	120.0					13																	114288916		2203	4300	6503	113336917	SO:0001630	splice_region_variant	7027	exon8			BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.687+1A>G	13.37:g.114288916A>G			113336917	NM_007111	B4DLQ9|Q5JSB4|Q8IZL5	Missense_Mutation	SNP	ENST00000375370.5	37	CCDS9538.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.357018	0.82243	.	.	ENSG00000198176	ENST00000538138;ENST00000375370;ENST00000544902;ENST00000408980	T;T;T;T	0.52983	0.64;1.57;0.69;1.18	4.22	4.22	0.49857	Transcription factor DP, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.73016	0.3533	M	0.90082	3.085	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.97110	0.998;0.999;0.999;1.0	T	0.79952	-0.1586	10	0.87932	D	0	.	13.6127	0.62088	1.0:0.0:0.0:0.0	.	134;134;134;229	F5H452;B4DLQ9;B7Z569;Q14186	.;.;.;TFDP1_HUMAN	R	134;229;134;229	ENSP00000443878:Q134R;ENSP00000364519:Q229R;ENSP00000438450:Q134R;ENSP00000386145:Q229R	ENSP00000364519:Q229R	Q	+	2	0	TFDP1	113336917	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	8.626000	0.90969	1.681000	0.50988	0.402000	0.26972	CAG		0.378	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045918.3	NM_007111	Missense_Mutation
TRAF3	7187	broad.mit.edu	37	14	103363625	103363626	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:103363625_103363626insA	ENST00000560371.1	+	9	1064_1065	c.847_848insA	c.(847-849)gaafs	p.E283fs	TRAF3_ENST00000392745.2_Frame_Shift_Ins_p.E283fs|TRAF3_ENST00000351691.5_Frame_Shift_Ins_p.E258fs|TRAF3_ENST00000539721.1_Frame_Shift_Ins_p.E200fs|TRAF3_ENST00000347662.4_Frame_Shift_Ins_p.E258fs	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	283					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.N285fs*38(1)|p.N285fs*13(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		TGAAAGTGTAGAAAAAAACAAG	0.267																																					p.E200fs												.	.	2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	large_intestine(2)	c.598_599insA	14						.																																			102433379	SO:0001589	frameshift_variant	7187	exon6			U21092	CCDS9975.1, CCDS9976.1, CCDS55946.1	14q32.32	2014-09-17				ENSG00000131323			12033	protein-coding gene	gene with protein product		601896				7530216, 7859281	Standard	NM_145725		Approved	CAP-1, CD40bp, CRAF1, LAP1	uc001ymd.2	Q13114		ENST00000560371.1:c.854dupA	14.37:g.103363632_103363632dupA	ENSP00000454207:p.Glu283fs		102433378	NM_001199427	B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Frame_Shift_Ins	INS	ENST00000560371.1	37	CCDS9975.1																																																																																				0.267	TRAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415735.1	NM_145725	
DLK1	8788	broad.mit.edu	37	14	101200533	101200533	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:101200533C>T	ENST00000341267.4	+	5	694	c.452C>T	c.(451-453)gCc>gTc	p.A151V	DLK1_ENST00000331224.6_Missense_Mutation_p.A151V	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	151	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|negative regulation of Notch signaling pathway (GO:0045746)|Notch signaling pathway (GO:0007219)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.A151V(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				GAGGGCCGGGCCTCCCATGCC	0.637																																					p.A151V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C452T	14						.						53.0	51.0	52.0					14																	101200533		2202	4300	6502	100270286	SO:0001583	missense	8788	exon5			U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559			2907	protein-coding gene	gene with protein product		176290	"""delta-like homolog (Drosophila)"""			8095043, 7925474	Standard	NM_003836		Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		ENST00000341267.4:c.452C>T	14.37:g.101200533C>T	ENSP00000340292:p.Ala151Val		100270286	NM_003836	P15803|Q96DW5	Missense_Mutation	SNP	ENST00000341267.4	37	CCDS9963.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.058177	0.76074	.	.	ENSG00000185559	ENST00000341267;ENST00000331224	D;D	0.92545	-3.06;-3.06	4.4	3.48	0.39840	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.072065	0.53938	D	0.000051	D	0.91666	0.7366	N	0.20685	0.6	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.997;0.999	D	0.90118	0.4197	10	0.36615	T	0.2	.	13.0719	0.59066	0.0:0.8371:0.1629:0.0	.	151;151	P80370-2;P80370	.;DLK1_HUMAN	V	151	ENSP00000340292:A151V;ENSP00000331081:A151V	ENSP00000331081:A151V	A	+	2	0	DLK1	100270286	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	4.876000	0.63079	0.786000	0.33708	0.491000	0.48974	GCC		0.637	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414389.1		
DYNC1H1	1778	broad.mit.edu	37	14	102461542	102461542	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:102461542T>G	ENST00000360184.4	+	15	3633	c.3469T>G	c.(3469-3471)Tca>Gca	p.S1157A		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1157	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.S1157A(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GGAGCAGCACTCAGTAGACAC	0.512																																					p.S1157A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3469G	14						.						167.0	166.0	167.0					14																	102461542		2203	4300	6503	101531295	SO:0001583	missense	1778	exon15			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.3469T>G	14.37:g.102461542T>G	ENSP00000348965:p.Ser1157Ala		101531295	NM_001376	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	T	17.88	3.496272	0.64186	.	.	ENSG00000197102	ENST00000360184	T	0.57752	0.38	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.55816	0.1944	M	0.66506	2.035	0.80722	D	1	P	0.45212	0.853	B	0.43052	0.406	T	0.55302	-0.8162	10	0.30078	T	0.28	.	16.5724	0.84622	0.0:0.0:0.0:1.0	.	1157	Q14204	DYHC1_HUMAN	A	1157	ENSP00000348965:S1157A	ENSP00000348965:S1157A	S	+	1	0	DYNC1H1	101531295	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	8.033000	0.88852	2.313000	0.78055	0.455000	0.32223	TCA		0.512	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376	
AKT1	207	broad.mit.edu	37	14	105239279	105239279	+	Missense_Mutation	SNP	G	G	A	rs549370342		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:105239279G>A	ENST00000554581.1	-	10	2588	c.1108C>T	c.(1108-1110)Cgc>Tgc	p.R370C	AKT1_ENST00000554192.1_Missense_Mutation_p.R57C|AKT1_ENST00000555458.1_Missense_Mutation_p.R65C|RP11-982M15.2_ENST00000557223.1_RNA|AKT1_ENST00000554585.1_5'UTR|AKT1_ENST00000349310.3_Missense_Mutation_p.R370C|AKT1_ENST00000544168.1_Missense_Mutation_p.R308C|AKT1_ENST00000407796.2_Missense_Mutation_p.R370C|AKT1_ENST00000402615.2_Missense_Mutation_p.R370C|AKT1_ENST00000554848.1_Missense_Mutation_p.R370C|AKT1_ENST00000555528.1_Missense_Mutation_p.R370C			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	370	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.R370C(1)		NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	CCAAGCGTGCGCGGGAAGCGG	0.592		1	Mis		"""breast, colorectal, ovarian, NSCLC"""								g|||	1	0.000199681	0.0	0.0	5008	,	,		18959	0.0		0.0	False		,,,				2504	0.001				p.R370C			Dom	yes		14	14q32.32	207	v-akt murine thymoma viral oncogene homolog 1		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1108T	14						.						82.0	67.0	72.0					14																	105239279		2203	4300	6503	104310324	SO:0001583	missense	207	exon12			M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.1108C>T	14.37:g.105239279G>A	ENSP00000451828:p.Arg370Cys		104310324	NM_001014432	B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	ENST00000554581.1	37	CCDS9994.1	.	.	.	.	.	.	.	.	.	.	g	17.78	3.473658	0.63737	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000555458;ENST00000554192;ENST00000544168;ENST00000554848	T;T;T;T;T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29	3.28	3.28	0.37604	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	0.54919	0.1888	M	0.64630	1.985	0.80722	D	1	B	0.27594	0.182	B	0.25987	0.065	T	0.61232	-0.7104	10	0.49607	T	0.09	.	15.0673	0.72005	0.0:0.0:1.0:0.0	.	370	P31749	AKT1_HUMAN	C	370;370;370;370;370;65;57;308;370	ENSP00000451828:R370C;ENSP00000384293:R370C;ENSP00000270202:R370C;ENSP00000385326:R370C;ENSP00000450688:R370C;ENSP00000451470:R65C;ENSP00000450681:R57C;ENSP00000443897:R308C;ENSP00000451166:R370C	ENSP00000270202:R370C	R	-	1	0	AKT1	104310324	1.000000	0.71417	0.971000	0.41717	0.905000	0.53344	6.257000	0.72480	1.820000	0.53075	0.401000	0.26515	CGC		0.592	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	NM_005163	
AHNAK2	113146	broad.mit.edu	37	14	105409038	105409038	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:105409038C>T	ENST00000333244.5	-	7	12869	c.12750G>A	c.(12748-12750)gcG>gcA	p.A4250A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4250						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.A4250A(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCATCACATCCGCCTTGGGGC	0.647																																					p.A4250A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G12750A	14						.						116.0	128.0	124.0					14																	105409038		1908	4114	6022	104480083	SO:0001819	synonymous_variant	113146	exon7			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12750G>A	14.37:g.105409038C>T			104480083	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.647	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
AHNAK2	113146	broad.mit.edu	37	14	105411251	105411251	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:105411251G>A	ENST00000333244.5	-	7	10656	c.10537C>T	c.(10537-10539)Cag>Tag	p.Q3513*	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3513						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.Q3513*(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGGTCCCCCTGCATGGAGGAG	0.662																																					p.Q3513X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C10537T	14						.						119.0	130.0	127.0					14																	105411251		1940	4113	6053	104482296	SO:0001587	stop_gained	113146	exon7			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.10537C>T	14.37:g.105411251G>A	ENSP00000353114:p.Gln3513*		104482296	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Nonsense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	51	17.555458	0.99889	.	.	ENSG00000185567	ENST00000333244	.	.	.	3.56	-1.65	0.08291	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	6.2366	0.20766	0.0:0.3812:0.2731:0.3457	.	.	.	.	X	3513	.	ENSP00000353114:Q3513X	Q	-	1	0	AHNAK2	104482296	0.050000	0.20438	0.000000	0.03702	0.015000	0.08874	-0.277000	0.08502	-0.109000	0.12044	0.205000	0.17691	CAG		0.662	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
AHNAK2	113146	broad.mit.edu	37	14	105414317	105414317	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:105414317G>A	ENST00000333244.5	-	7	7590	c.7471C>T	c.(7471-7473)Ccg>Tcg	p.P2491S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2491						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.P2491S(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCGAATGACGGCATCTTGAAC	0.607																																					p.P2491S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7471T	14						.						174.0	201.0	193.0					14																	105414317		2024	4179	6203	104485362	SO:0001583	missense	113146	exon7			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.7471C>T	14.37:g.105414317G>A	ENSP00000353114:p.Pro2491Ser		104485362	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	17.77	3.471300	0.63625	.	.	ENSG00000185567	ENST00000333244	T	0.03152	4.03	3.74	3.74	0.42951	.	.	.	.	.	T	0.26991	0.0661	H	0.95328	3.655	0.36092	D	0.843543	D	0.89917	1.0	D	0.91635	0.999	T	0.56492	-0.7970	9	0.44086	T	0.13	.	15.5871	0.76491	0.0:0.0:1.0:0.0	.	2491	Q8IVF2	AHNK2_HUMAN	S	2491	ENSP00000353114:P2491S	ENSP00000353114:P2491S	P	-	1	0	AHNAK2	104485362	1.000000	0.71417	0.972000	0.41901	0.268000	0.26511	5.957000	0.70323	1.642000	0.50584	0.485000	0.47835	CCG		0.607	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
OR4N2	390429	broad.mit.edu	37	14	20295980	20295980	+	Missense_Mutation	SNP	G	G	A	rs4060171	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:20295980G>A	ENST00000315947.1	+	1	373	c.373G>A	c.(373-375)Gcc>Acc	p.A125T	OR4N2_ENST00000568211.1_Missense_Mutation_p.A125T	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A125T(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCGCTACATCGCCATCTGCCG	0.507													.|||	5	0.000998403	0.0008	0.0029	5008	,	,		28700	0.0		0.001	False		,,,				2504	0.001				p.A125T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G373A	14						.	G	THR/ALA	3,4403		0,3,2200	169.0	181.0	177.0		373	4.5	1.0	14	dbSNP_108	177	5,8595		0,5,4295	yes	missense	OR4N2	NM_001004723.1	58	0,8,6495	AA,AG,GG		0.0581,0.0681,0.0615	possibly-damaging	125/308	20295980	8,12998	2203	4300	6503	19365820	SO:0001583	missense	390429	exon1				CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.373G>A	14.37:g.20295980G>A	ENSP00000319601:p.Ala125Thr		19365820	NM_001004723	Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	20.5	3.994236	0.74703	6.81E-4	5.81E-4	ENSG00000176294	ENST00000557677;ENST00000315947	T;T	0.00912	5.55;5.55	4.53	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000149	T	0.03220	0.0094	H	0.94264	3.515	0.42717	D	0.993664	P	0.43701	0.815	B	0.37550	0.253	T	0.09885	-1.0654	10	0.87932	D	0	-15.0311	15.1112	0.72359	0.0:0.0:1.0:0.0	rs4060171	125	Q8NGD1	OR4N2_HUMAN	T	125	ENSP00000452022:A125T;ENSP00000319601:A125T	ENSP00000319601:A125T	A	+	1	0	OR4N2	19365820	1.000000	0.71417	0.984000	0.44739	0.998000	0.95712	7.161000	0.77505	2.488000	0.83962	0.591000	0.81541	GCC		0.507	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2		
OR4K15	81127	broad.mit.edu	37	14	20444099	20444099	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:20444099C>T	ENST00000305051.5	+	1	497	c.422C>T	c.(421-423)tCc>tTc	p.S141F		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S141F(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTCCTAGTTTCCATGGCCTAT	0.458																																					p.S141F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C422T	14						.						139.0	136.0	137.0					14																	20444099		2203	4299	6502	19513939	SO:0001583	missense	81127	exon1				CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.422C>T	14.37:g.20444099C>T	ENSP00000304077:p.Ser141Phe		19513939	NM_001005486	B9EIL3|Q6IEZ4	Missense_Mutation	SNP	ENST00000305051.5	37	CCDS32026.1	.	.	.	.	.	.	.	.	.	.	.	10.37	1.330283	0.24167	.	.	ENSG00000169488	ENST00000305051	T	0.03004	4.08	3.8	1.79	0.24919	GPCR, rhodopsin-like superfamily (1);	0.135381	0.34245	N	0.004140	T	0.03390	0.0098	L	0.40543	1.245	0.09310	N	1	B	0.21606	0.058	B	0.24269	0.052	T	0.37174	-0.9717	10	0.72032	D	0.01	.	3.9241	0.09256	0.0:0.5665:0.2089:0.2246	.	141	Q8NH41	OR4KF_HUMAN	F	141	ENSP00000304077:S141F	ENSP00000304077:S141F	S	+	2	0	OR4K15	19513939	0.000000	0.05858	0.873000	0.34254	0.960000	0.62799	0.734000	0.26101	0.725000	0.32318	0.585000	0.79938	TCC		0.458	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1		
TEP1	7011	broad.mit.edu	37	14	20839723	20839723	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:20839723C>T	ENST00000262715.5	-	50	7185	c.7145G>A	c.(7144-7146)gGt>gAt	p.G2382D	TEP1_ENST00000556935.1_Missense_Mutation_p.G2274D|TEP1_ENST00000545983.1_3'UTR	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2382					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.G2382D(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GAGAAAGTGACCATCAGGAGC	0.453																																					p.G2382D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7145A	14						.						242.0	245.0	244.0					14																	20839723		2203	4300	6503	19909563	SO:0001583	missense	7011	exon50				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.7145G>A	14.37:g.20839723C>T	ENSP00000262715:p.Gly2382Asp		19909563	NM_007110	A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	CCDS9548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.79|11.79	1.744914|1.744914	0.30865|0.30865	.|.	.|.	ENSG00000129566|ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935|ENST00000553984	T;T|.	0.24350|.	1.86;1.86|.	5.44|5.44	3.62|3.62	0.41486|0.41486	WD40/YVTN repeat-like-containing domain (1);|.	0.444586|.	0.23770|.	N|.	0.044738|.	T|.	0.61961|.	0.2389|.	M|M	0.87827|0.87827	2.91|2.91	0.27499|0.27499	N|N	0.952046|0.952046	P;P;P|.	0.51791|.	0.948;0.9;0.914|.	P;P;B|.	0.49999|.	0.628;0.628;0.425|.	T|.	0.57700|.	-0.7766|.	10|.	0.54805|.	T|.	0.06|.	-10.1354|-10.1354	7.7012|7.7012	0.28623|0.28623	0.0:0.7514:0.1627:0.0859|0.0:0.7514:0.1627:0.0859	.|.	2274;1725;2382|.	G3V5X7;G3V2A4;Q99973|.	.;.;TEP1_HUMAN|.	D|X	2382;2382;2274|38	ENSP00000262715:G2382D;ENSP00000452574:G2274D|.	ENSP00000262715:G2382D|.	G|W	-|-	2|3	0|0	TEP1|TEP1	19909563|19909563	0.135000|0.135000	0.22499|0.22499	0.290000|0.290000	0.24890|0.24890	0.051000|0.051000	0.14879|0.14879	1.265000|1.265000	0.33027|0.33027	0.862000|0.862000	0.35528|0.35528	-0.133000|-0.133000	0.14855|0.14855	GGT|TGG		0.453	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110	
APEX1	328	broad.mit.edu	37	14	20920534	20920535	+	5'Flank	DEL	CT	CT	-	rs142492576		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	CT	CT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:20920534_20920535delCT	ENST00000216714.3	+	0	0				APEX1_ENST00000555414.1_5'Flank|APEX1_ENST00000398030.4_5'Flank|OSGEP_ENST00000206542.4_Frame_Shift_Del_p.E63fs|OSGEP_ENST00000554249.1_5'Flank|OSGEP_ENST00000555656.1_5'Flank|OSGEP_ENST00000556252.1_5'UTR|RP11-203M5.7_ENST00000555435.1_RNA|APEX1_ENST00000557054.1_5'Flank	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1						aging (GO:0007568)|base-excision repair (GO:0006284)|cell redox homeostasis (GO:0045454)|cellular response to cAMP (GO:0071320)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to peptide hormone stimulus (GO:0071375)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA demethylation (GO:0080111)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|negative regulation of smooth muscle cell migration (GO:0014912)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oxidation-reduction process (GO:0055114)|positive regulation of DNA repair (GO:0045739)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribosome (GO:0005840)|transcription factor complex (GO:0005667)	3'-5' exonuclease activity (GO:0008408)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|phosphodiesterase I activity (GO:0004528)|phosphoric diester hydrolase activity (GO:0008081)|poly(A) RNA binding (GO:0044822)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|uracil DNA N-glycosylase activity (GO:0004844)	p.E63fs*39(1)		breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	TTAATCCAGACTCTGTTAGTGC	0.5								Other BER factors																													p.63_63del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.188_189del	14						.																																			19990375	SO:0001631	upstream_gene_variant	55644	exon2			X59764	CCDS9550.1	14q11.2	2008-02-05	2002-09-11	2002-09-13	ENSG00000100823	ENSG00000100823	4.2.99.18		587	protein-coding gene	gene with protein product		107748	"""APEX nuclease (multifunctional DNA repair enzyme)"""	APEX			Standard	NM_001641		Approved	APE, REF1, HAP1, APX, APEN, REF-1, APE-1	uc021rnr.1	P27695	OTTHUMG00000029544		14.37:g.20920536_20920537delCT	Exception_encountered		19990374	NM_017807	Q969L5|Q99775	Frame_Shift_Del	DEL	ENST00000216714.3	37	CCDS9550.1																																																																																				0.500	APEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073641.3	NM_001641	
APEX1	328	broad.mit.edu	37	14	20924969	20924969	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:20924969G>A	ENST00000216714.3	+	4	657	c.389G>A	c.(388-390)gGc>gAc	p.G130D	APEX1_ENST00000555414.1_Missense_Mutation_p.G130D|APEX1_ENST00000398030.4_Missense_Mutation_p.G130D|APEX1_ENST00000557365.1_3'UTR|OSGEP_ENST00000206542.4_5'Flank|OSGEP_ENST00000556252.1_5'Flank|APEX1_ENST00000557054.1_Intron	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	130					aging (GO:0007568)|base-excision repair (GO:0006284)|cell redox homeostasis (GO:0045454)|cellular response to cAMP (GO:0071320)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to peptide hormone stimulus (GO:0071375)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA demethylation (GO:0080111)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|negative regulation of smooth muscle cell migration (GO:0014912)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oxidation-reduction process (GO:0055114)|positive regulation of DNA repair (GO:0045739)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribosome (GO:0005840)|transcription factor complex (GO:0005667)	3'-5' exonuclease activity (GO:0008408)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|phosphodiesterase I activity (GO:0004528)|phosphoric diester hydrolase activity (GO:0008081)|poly(A) RNA binding (GO:0044822)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|uracil DNA N-glycosylase activity (GO:0004844)	p.G130D(1)		breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	GGGTACAGTGGCGTGGGCCTG	0.498								Other BER factors																													p.G130D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G389A	14						.						47.0	47.0	47.0					14																	20924969		2203	4300	6503	19994809	SO:0001583	missense	328	exon4			X59764	CCDS9550.1	14q11.2	2008-02-05	2002-09-11	2002-09-13	ENSG00000100823	ENSG00000100823	4.2.99.18		587	protein-coding gene	gene with protein product		107748	"""APEX nuclease (multifunctional DNA repair enzyme)"""	APEX			Standard	NM_001641		Approved	APE, REF1, HAP1, APX, APEN, REF-1, APE-1	uc021rnr.1	P27695	OTTHUMG00000029544	ENST00000216714.3:c.389G>A	14.37:g.20924969G>A	ENSP00000216714:p.Gly130Asp		19994809	NM_080648	Q969L5|Q99775	Missense_Mutation	SNP	ENST00000216714.3	37	CCDS9550.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.9|25.9	4.680910|4.680910	0.88542|0.88542	.|.	.|.	ENSG00000100823|ENSG00000100823	ENST00000438886|ENST00000555414;ENST00000216714;ENST00000553681;ENST00000557344;ENST00000398030;ENST00000555839;ENST00000556054;ENST00000557592;ENST00000557150	.|D;D;D;D;D;D;D;D;D	.|0.86432	.|-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-2.12	5.91|5.91	5.91|5.91	0.95273|0.95273	.|Endonuclease/exonuclease/phosphatase (2);	.|0.048163	.|0.85682	.|D	.|0.000000	D|D	0.96929|0.96929	0.8997|0.8997	H|H	0.99590|0.99590	4.645|4.645	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.98321|0.98321	1.0528|1.0528	5|10	.|0.87932	.|D	.|0	.|.	19.07|19.07	0.93130|0.93130	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|130	.|P27695	.|APEX1_HUMAN	T|D	80|130;130;130;130;130;130;130;113;113	.|ENSP00000451979:G130D;ENSP00000216714:G130D;ENSP00000451327:G130D;ENSP00000452137:G130D;ENSP00000381111:G130D;ENSP00000452460:G130D;ENSP00000451170:G130D;ENSP00000451060:G113D;ENSP00000452418:G113D	.|ENSP00000216714:G130D	A|G	+|+	1|2	0|0	APEX1|APEX1	19994809|19994809	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	9.167000|9.167000	0.94773|0.94773	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GCG|GGC		0.498	APEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073641.3	NM_001641	
ARHGEF40	55701	broad.mit.edu	37	14	21546386	21546386	+	Silent	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:21546386G>T	ENST00000298694.4	+	9	2212	c.2085G>T	c.(2083-2085)cgG>cgT	p.R695R	ARHGEF40_ENST00000298693.3_Silent_p.R695R			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	695						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R695R(1)		large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						GCTCGGTACGGCAGGCCATTG	0.567																																					p.R695R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2085T	14						.						70.0	66.0	67.0					14																	21546386		2203	4300	6503	20616226	SO:0001819	synonymous_variant	55701	exon9				CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.2085G>T	14.37:g.21546386G>T			20616226	NM_018071	A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Silent	SNP	ENST00000298694.4	37	CCDS32041.1																																																																																				0.567	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1		
OR5AU1	390445	broad.mit.edu	37	14	21623250	21623250	+	Missense_Mutation	SNP	C	C	T	rs372596322		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:21623250C>T	ENST00000304418.3	-	1	972	c.935G>A	c.(934-936)cGc>cAc	p.R312H		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	312						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R312H(2)|p.R312P(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		GGACCTGGGGCGCAGGTACAT	0.537																																					p.R312H												.	.	3	Substitution - Missense(3)	large_intestine(2)|lung(1)	c.G935A	14						.	C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	120.0	109.0	113.0		935	1.6	1.0	14		113	0,8600		0,0,4300	no	missense	OR5AU1	NM_001004731.1	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	312/363	21623250	1,13005	2203	4300	6503	20693090	SO:0001583	missense	390445	exon1			AL157687	CCDS32042.1	14q11.2	2013-09-23			ENSG00000169327	ENSG00000169327		"""GPCR / Class A : Olfactory receptors"""	15362	protein-coding gene	gene with protein product							Standard	NM_001004731		Approved		uc010tlp.2	Q8NGC0	OTTHUMG00000170753	ENST00000304418.3:c.935G>A	14.37:g.21623250C>T	ENSP00000302057:p.Arg312His		20693090	NM_001004731	B2RP78|Q6IEU2|Q96R10	Missense_Mutation	SNP	ENST00000304418.3	37	CCDS32042.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.371774	0.42003	2.27E-4	0.0	ENSG00000169327	ENST00000304418	T	0.37752	1.18	4.48	1.6	0.23607	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.41213	0.1149	M	0.80847	2.515	0.33620	D	0.604636	B	0.33103	0.397	B	0.37387	0.248	T	0.53528	-0.8426	9	0.49607	T	0.09	.	8.3665	0.32389	0.0:0.7229:0.0:0.2771	.	312	Q8NGC0	O5AU1_HUMAN	H	312	ENSP00000302057:R312H	ENSP00000302057:R312H	R	-	2	0	OR5AU1	20693090	0.000000	0.05858	1.000000	0.80357	0.969000	0.65631	0.205000	0.17356	0.522000	0.28464	-0.424000	0.05967	CGC		0.537	OR5AU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410213.1		
RPGRIP1	57096	broad.mit.edu	37	14	21794062	21794062	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:21794062C>T	ENST00000400017.2	+	16	2440	c.2440C>T	c.(2440-2442)Cga>Tga	p.R814*	RPGRIP1_ENST00000557771.1_Nonsense_Mutation_p.R776*|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000307974.4_Nonsense_Mutation_p.R173*|RPGRIP1_ENST00000206660.6_Nonsense_Mutation_p.R814*	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	814	C2.		R -> L. {ECO:0000269|PubMed:21224891}.		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.R814*(1)|p.R430*(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)		CCTCCGGAGTCGATGGCTGGG	0.507																																					p.R814X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C2440T	14						.						71.0	73.0	72.0					14																	21794062		2056	4192	6248	20863902	SO:0001587	stop_gained	57096	exon16			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.2440C>T	14.37:g.21794062C>T	ENSP00000382895:p.Arg814*		20863902	NM_020366	Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Nonsense_Mutation	SNP	ENST00000400017.2	37	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	C	37	6.466966	0.97590	.	.	ENSG00000092200	ENST00000557771;ENST00000400017;ENST00000206660;ENST00000555587;ENST00000307974	.	.	.	4.71	4.71	0.59529	.	0.135639	0.50627	D	0.000107	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.4561	16.9649	0.86283	0.0:1.0:0.0:0.0	.	.	.	.	X	776;814;814;289;173	.	ENSP00000206660:R814X	R	+	1	2	RPGRIP1	20863902	0.616000	0.27035	0.971000	0.41717	0.982000	0.71751	2.373000	0.44266	2.615000	0.88500	0.655000	0.94253	CGA		0.507	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366	
TOX4	9878	broad.mit.edu	37	14	21960803	21960803	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:21960803T>C	ENST00000405508.1	+	8	1304	c.1028T>C	c.(1027-1029)gTt>gCt	p.V343A	TOX4_ENST00000448790.2_Missense_Mutation_p.V320A|TOX4_ENST00000262709.3_Missense_Mutation_p.V343A			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	343						chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)	p.V343A(1)		large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		TCCATTGTTGTTAACTCCACC	0.507																																					p.V343A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1028C	14						.						116.0	117.0	117.0					14																	21960803		2203	4300	6503	21030643	SO:0001583	missense	9878	exon7			AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"""chromosome 14 open reading frame 92"", ""KIAA0737"""	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1028T>C	14.37:g.21960803T>C	ENSP00000385102:p.Val343Ala		21030643	NM_014828	B4DPY8|B4DSM0|E7EV69	Missense_Mutation	SNP	ENST00000405508.1	37	CCDS32043.1	.	.	.	.	.	.	.	.	.	.	T	12.96	2.094345	0.36952	.	.	ENSG00000092203	ENST00000405508;ENST00000262709;ENST00000448790;ENST00000545559	T;T;T	0.12465	2.69;2.69;2.68	4.89	4.89	0.63831	.	0.193166	0.44902	D	0.000418	T	0.05547	0.0146	N	0.03608	-0.345	0.29498	N	0.855104	B;B	0.28850	0.225;0.225	B;B	0.28638	0.092;0.02	T	0.20773	-1.0265	10	0.25751	T	0.34	.	7.3785	0.26841	0.0:0.0959:0.0:0.9041	.	320;343	B4DPY8;O94842	.;TOX4_HUMAN	A	343;343;320;271	ENSP00000385102:V343A;ENSP00000262709:V343A;ENSP00000393080:V320A	ENSP00000262709:V343A	V	+	2	0	TOX4	21030643	0.998000	0.40836	0.999000	0.59377	0.989000	0.77384	1.302000	0.33459	2.183000	0.69458	0.454000	0.30748	GTT		0.507	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828	
OXA1L	5018	broad.mit.edu	37	14	23235776	23235776	+	Missense_Mutation	SNP	G	G	T	rs149160371		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:23235776G>T	ENST00000285848.5	+	1	46	c.46G>T	c.(46-48)Gcc>Tcc	p.A16S	CTD-2555K7.2_ENST00000553792.1_RNA|OXA1L_ENST00000412791.1_5'Flank|CTD-2555K7.2_ENST00000554857.1_RNA|OXA1L_ENST00000604262.1_5'Flank|OXA1L_ENST00000358043.5_5'Flank|CTD-2555K7.2_ENST00000554730.1_RNA	NM_005015.3	NP_005006.3	Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	0					aerobic respiration (GO:0009060)|mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex I biogenesis (GO:0097031)|negative regulation of ATPase activity (GO:0032780)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|protein complex assembly (GO:0006461)|protein insertion into membrane (GO:0051205)|protein tetramerization (GO:0051262)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	mitochondrial ribosome binding (GO:0097177)|protein homodimerization activity (GO:0042803)	p.A16S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		AAATATGGCCGCCAAGCTCCG	0.493																																					p.A16S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G46T	14						.						118.0	122.0	121.0					14																	23235776		2203	4300	6503	22305616	SO:0001583	missense	5018	exon1				CCDS9573.1	14q11.2	2009-05-26			ENSG00000155463	ENSG00000155463			8526	protein-coding gene	gene with protein product		601066				8586451, 19349278	Standard	NM_005015		Approved	MGC133129, OXA1	uc001wgn.2	Q15070	OTTHUMG00000028691	ENST00000285848.5:c.46G>T	14.37:g.23235776G>T	ENSP00000285848:p.Ala16Ser		22305616	NM_005015	B4DPA2	Missense_Mutation	SNP	ENST00000285848.5	37	CCDS9573.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.581070	0.46006	.	.	ENSG00000155463	ENST00000285848	T	0.36699	1.24	4.98	3.16	0.36331	.	1.048650	0.07674	U	0.936032	T	0.18509	0.0444	N	0.08118	0	0.80722	D	1	P	0.39216	0.664	B	0.32149	0.141	T	0.01583	-1.1319	10	0.87932	D	0	-1.1814	7.1234	0.25458	0.1998:0.0:0.8002:0.0	.	16	Q2M1J6	.	S	16	ENSP00000285848:A16S	ENSP00000285848:A16S	A	+	1	0	OXA1L	22305616	0.711000	0.27906	0.590000	0.28732	0.774000	0.43823	0.728000	0.26013	0.696000	0.31696	0.655000	0.94253	GCC		0.493	OXA1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000071630.2	NM_005015	
C14orf93	60686	broad.mit.edu	37	14	23465319	23465319	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:23465319C>A	ENST00000299088.6	-	3	1185	c.756G>T	c.(754-756)gaG>gaT	p.E252D	C14orf93_ENST00000557513.1_5'Flank|RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000341470.4_Missense_Mutation_p.E252D|C14orf93_ENST00000406429.2_Missense_Mutation_p.E252D|C14orf93_ENST00000397377.1_Missense_Mutation_p.E72D|C14orf93_ENST00000397382.4_Missense_Mutation_p.E252D|RP11-298I3.4_ENST00000556503.1_RNA|RP11-298I3.4_ENST00000557615.1_RNA|C14orf93_ENST00000397379.3_Missense_Mutation_p.E252D	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	252						extracellular region (GO:0005576)	poly(A) RNA binding (GO:0044822)	p.E252D(1)		kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		TGAGCATGTCCTCAGGGCGGG	0.607																																					p.E252D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G756T	14						.						118.0	97.0	104.0					14																	23465319		2203	4300	6503	22535159	SO:0001583	missense	60686	exon3			AK023026	CCDS9583.1, CCDS61399.1, CCDS61400.1	14q11.1	2012-09-25			ENSG00000100802	ENSG00000100802			20162	protein-coding gene	gene with protein product							Standard	XM_005267971		Approved	FLJ12154	uc001wih.3	Q9H972	OTTHUMG00000028712	ENST00000299088.6:c.756G>T	14.37:g.23465319C>A	ENSP00000299088:p.Glu252Asp		22535159	NM_001130708	B7WP03|D3DS38|D3DS39|Q86SE6|Q96CF7|Q9HA68	Missense_Mutation	SNP	ENST00000299088.6	37	CCDS9583.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.989389	0.53934	.	.	ENSG00000100802	ENST00000299088;ENST00000341470;ENST00000397379;ENST00000397382;ENST00000397377;ENST00000406429;ENST00000397376	T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85	5.71	2.86	0.33363	.	0.180017	0.39407	N	0.001364	T	0.29423	0.0733	L	0.27053	0.805	0.29421	N	0.860561	B;B	0.17667	0.023;0.023	B;B	0.16289	0.015;0.015	T	0.15636	-1.0430	10	0.46703	T	0.11	-11.9814	4.1961	0.10443	0.1502:0.5173:0.0:0.3325	.	252;252	Q9H972;Q9H972-2	CN093_HUMAN;.	D	252;252;252;252;72;252;72	ENSP00000299088:E252D;ENSP00000341353:E252D;ENSP00000380535:E252D;ENSP00000380538:E252D;ENSP00000380533:E72D;ENSP00000384768:E252D;ENSP00000380532:E72D	ENSP00000299088:E252D	E	-	3	2	C14orf93	22535159	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	1.732000	0.38146	0.323000	0.23307	0.655000	0.94253	GAG		0.607	C14orf93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071688.5	NM_021944	
TSSK4	283629	broad.mit.edu	37	14	24675883	24675883	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:24675883C>A	ENST00000287913.6	+	2	562	c.394C>A	c.(394-396)Ctg>Atg	p.L132M	TM9SF1_ENST00000530611.1_Intron|TM9SF1_ENST00000556387.1_Intron|AL136419.6_ENST00000565988.1_RNA|TSSK4_ENST00000428351.2_Intron|TSSK4_ENST00000339917.5_Missense_Mutation_p.L132M|TSSK4_ENST00000556621.1_Missense_Mutation_p.L56M			Q6SA08	TSSK4_HUMAN	testis-specific serine kinase 4	132	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|positive regulation of CREB transcription factor activity (GO:0032793)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.L132M(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8				GBM - Glioblastoma multiforme(265;0.018)		GTTCTCCCAGCTGACCCTGGG	0.597																																					p.L132M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C394A	14						.						72.0	65.0	68.0					14																	24675883		2203	4300	6503	23745723	SO:0001583	missense	283629	exon2			AF542390	CCDS9618.1, CCDS53890.1	14q11.2	2006-03-31	2005-03-10	2005-03-12	ENSG00000139908	ENSG00000139908			19825	protein-coding gene	gene with protein product	"""chromosome 14 open reading frame 20"""	610711	"""serine/threonine kinase 22E"""	C14orf20, STK22E			Standard	NM_174944		Approved		uc001wnh.3	Q6SA08	OTTHUMG00000029323	ENST00000287913.6:c.394C>A	14.37:g.24675883C>A	ENSP00000287913:p.Leu132Met		23745723	NM_174944	Q2TA60|Q6ZNM2	De_novo_Start_OutOfFrame	SNP	ENST00000287913.6	37	CCDS9618.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.131|4.131	0.022545|0.022545	0.08006|0.08006	.|.	.|.	ENSG00000139908|ENSG00000139908	ENST00000555092|ENST00000339917;ENST00000556621;ENST00000287913	.|T;T;T	.|0.29142	.|1.58;1.58;1.58	5.07|5.07	-10.1|-10.1	0.00402|0.00402	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.781535	.|0.11605	.|N	.|0.547340	T|T	0.24509|0.24509	0.0594|0.0594	L|L	0.46885|0.46885	1.475|1.475	0.47153|0.47153	D|D	0.99933|0.99933	.|B;B	.|0.27656	.|0.153;0.184	.|B;B	.|0.35770	.|0.133;0.21	T|T	0.36768|0.36768	-0.9734|-0.9734	5|10	.|0.42905	.|T	.|0.14	.|.	12.1367|12.1367	0.53974|0.53974	0.1074:0.676:0.1355:0.0811|0.1074:0.676:0.1355:0.0811	.|.	.|132;132	.|Q6SA08-2;Q6SA08	.|.;TSSK4_HUMAN	D|M	126|132;56;132	.|ENSP00000339179:L132M;ENSP00000452054:L56M;ENSP00000287913:L132M	.|ENSP00000287913:L132M	A|L	+|+	2|1	0|2	TSSK4|TSSK4	23745723|23745723	0.240000|0.240000	0.23847|0.23847	0.667000|0.667000	0.29798|0.29798	0.989000|0.989000	0.77384|0.77384	-0.784000|-0.784000	0.04633|0.04633	-2.135000|-2.135000	0.00811|0.00811	-0.521000|-0.521000	0.04368|0.04368	GCT|CTG		0.597	TSSK4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000073139.3	NM_174944	
GMPR2	51292	broad.mit.edu	37	14	24705248	24705248	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:24705248G>A	ENST00000355299.4	+	5	828	c.367G>A	c.(367-369)Gtg>Atg	p.V123M	GMPR2_ENST00000399440.2_Missense_Mutation_p.V123M|GMPR2_ENST00000348719.7_Missense_Mutation_p.V123M|GMPR2_ENST00000559910.1_Splice_Site|GMPR2_ENST00000557854.1_Missense_Mutation_p.V141M|GMPR2_ENST00000456667.3_Missense_Mutation_p.V95M|GMPR2_ENST00000559836.1_Missense_Mutation_p.V123M|GMPR2_ENST00000559104.1_Splice_Site|GMPR2_ENST00000420554.2_Missense_Mutation_p.V141M	NM_001002000.1	NP_001002000.1	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	123					GMP metabolic process (GO:0046037)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)	p.V123M(1)		large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		TATTCCCCAGGTGAAGTATAT	0.498																																					p.V141M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G421A	14						.						92.0	92.0	92.0					14																	24705248		1959	4171	6130	23775088	SO:0001583	missense	51292	exon4				CCDS41935.1, CCDS45087.1, CCDS61419.1, CCDS73624.1	14q11.2	2006-11-24							4377	protein-coding gene	gene with protein product		610781					Standard	XM_005267742		Approved		uc001wnw.3	Q9P2T1		ENST00000355299.4:c.367G>A	14.37:g.24705248G>A	ENSP00000347449:p.Val123Met		23775088	NM_016576	D3DS66|Q567T0|Q6IAJ8|Q86T14	De_novo_Start_OutOfFrame	SNP	ENST00000355299.4	37	CCDS41935.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.385653	0.61956	.	.	ENSG00000100938	ENST00000355299;ENST00000420554;ENST00000399440;ENST00000348719;ENST00000456667	T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49	5.53	5.53	0.82687	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.327159	0.25445	U	0.030626	D	0.90283	0.6961	M	0.92604	3.325	0.47009	D	0.999281	P;D;P;P	0.56968	0.544;0.978;0.884;0.789	B;P;B;P	0.58620	0.392;0.842;0.394;0.608	D	0.91776	0.5431	10	0.72032	D	0.01	-11.4042	14.0321	0.64622	0.0:0.1514:0.8486:0.0	.	95;123;141;123	Q86T14;Q6PKC0;Q9P2T1-2;Q9P2T1	.;.;.;GMPR2_HUMAN	M	123;141;123;123;95	ENSP00000347449:V123M;ENSP00000392859:V141M;ENSP00000382369:V123M;ENSP00000334409:V123M;ENSP00000405743:V95M	ENSP00000334409:V123M	V	+	1	0	GMPR2	23775088	0.986000	0.35501	1.000000	0.80357	0.997000	0.91878	1.184000	0.32053	2.882000	0.98803	0.655000	0.94253	GTG		0.498	GMPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415821.2	NM_016576	
TGM1	7051	broad.mit.edu	37	14	24724372	24724372	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:24724372T>C	ENST00000206765.6	-	12	1856	c.1733A>G	c.(1732-1734)gAt>gGt	p.D578G	TGM1_ENST00000544573.1_Missense_Mutation_p.D136G	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	578					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.D578G(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CATGGCCACATCCTCCGCTGA	0.612																																					p.D578G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1733G	14						.						85.0	70.0	75.0					14																	24724372		2203	4300	6503	23794212	SO:0001583	missense	7051	exon12			D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.1733A>G	14.37:g.24724372T>C	ENSP00000206765:p.Asp578Gly		23794212	NM_000359	B4DWR7|Q197M4	Missense_Mutation	SNP	ENST00000206765.6	37	CCDS9622.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.263613	0.80358	.	.	ENSG00000092295	ENST00000206765;ENST00000544573	T;T	0.76578	-1.03;-1.03	5.05	5.05	0.67936	Transglutaminase, C-terminal (1);Immunoglobulin-like fold (1);	0.214432	0.46145	D	0.000308	T	0.76528	0.4000	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.81527	-0.0892	10	0.62326	D	0.03	-26.3529	13.9031	0.63817	0.0:0.0:0.0:1.0	.	578	P22735	TGM1_HUMAN	G	578;136	ENSP00000206765:D578G;ENSP00000439446:D136G	ENSP00000206765:D578G	D	-	2	0	TGM1	23794212	1.000000	0.71417	0.999000	0.59377	0.747000	0.42532	6.700000	0.74619	2.118000	0.64928	0.460000	0.39030	GAT		0.612	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	NM_000359	
NYNRIN	57523	broad.mit.edu	37	14	24880353	24880353	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:24880353A>G	ENST00000382554.3	+	5	2804	c.2486A>G	c.(2485-2487)cAc>cGc	p.H829R		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	829					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.H829R(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AACCGGGGACACCGAGAGGTC	0.597											OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.H829R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2486G	14						.						100.0	111.0	107.0					14																	24880353		2088	4227	6315	23950193	SO:0001583	missense	57523	exon5			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.2486A>G	14.37:g.24880353A>G	ENSP00000371994:p.His829Arg	774	23950193	NM_025081	Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.357104	0.82243	.	.	ENSG00000205978	ENST00000382554	T	0.50548	0.74	5.02	5.02	0.67125	Ribonuclease Zc3h12a-like (1);	.	.	.	.	T	0.66366	0.2782	M	0.72894	2.215	0.50813	D	0.999894	D	0.65815	0.995	D	0.77557	0.99	T	0.70249	-0.4924	9	0.87932	D	0	.	12.7436	0.57268	1.0:0.0:0.0:0.0	.	829	Q9P2P1	NYNRI_HUMAN	R	829	ENSP00000371994:H829R	ENSP00000371994:H829R	H	+	2	0	NYNRIN	23950193	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.017000	0.88712	2.104000	0.64026	0.383000	0.25322	CAC		0.597	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1		
SSTR1	6751	broad.mit.edu	37	14	38679003	38679003	+	Missense_Mutation	SNP	G	G	A	rs546561451		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:38679003G>A	ENST00000267377.2	+	3	1026	c.409G>A	c.(409-411)Gac>Aac	p.D137N		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	137					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)	p.D137N(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	GCTCAGCGTGGACGCGGTCAA	0.637																																					p.D137N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G409A	14						.						165.0	151.0	156.0					14																	38679003		2203	4300	6503	37748754	SO:0001583	missense	6751	exon3				CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"""GPCR / Class A : Somatostatin receptors"""	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.409G>A	14.37:g.38679003G>A	ENSP00000267377:p.Asp137Asn		37748754	NM_001049		Missense_Mutation	SNP	ENST00000267377.2	37	CCDS9666.1	.	.	.	.	.	.	.	.	.	.	G	31	5.074522	0.94000	.	.	ENSG00000139874	ENST00000267377	T	0.19394	2.15	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000009	T	0.55816	0.1944	M	0.90922	3.16	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.66972	-0.5788	10	0.72032	D	0.01	.	17.0667	0.86561	0.0:0.0:1.0:0.0	.	137	P30872	SSR1_HUMAN	N	137	ENSP00000267377:D137N	ENSP00000267377:D137N	D	+	1	0	SSTR1	37748754	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.623000	0.98386	2.514000	0.84764	0.561000	0.74099	GAC		0.637	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2		
PNN	5411	broad.mit.edu	37	14	39649837	39649837	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:39649837A>C	ENST00000216832.4	+	9	991	c.924A>C	c.(922-924)gaA>gaC	p.E308D	PNN_ENST00000557680.1_3'UTR	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	308	Glu-rich.				cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.E308D(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		CGGAACAAGAAGAGGGTAAGG	0.443																																					p.E308D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A924C	14						.						150.0	139.0	142.0					14																	39649837		2203	4300	6503	38719588	SO:0001583	missense	5411	exon9			U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.924A>C	14.37:g.39649837A>C	ENSP00000216832:p.Glu308Asp		38719588	NM_002687	B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Missense_Mutation	SNP	ENST00000216832.4	37	CCDS9671.1	.	.	.	.	.	.	.	.	.	.	A	16.26	3.072821	0.55646	.	.	ENSG00000100941	ENST00000216832	T	0.34472	1.36	5.92	5.92	0.95590	.	0.143551	0.64402	D	0.000010	T	0.48995	0.1531	L	0.55481	1.735	0.80722	D	1	D	0.67145	0.996	P	0.54759	0.76	T	0.44159	-0.9346	10	0.46703	T	0.11	-12.0396	16.0884	0.81073	1.0:0.0:0.0:0.0	.	308	Q9H307	PININ_HUMAN	D	308	ENSP00000216832:E308D	ENSP00000216832:E308D	E	+	3	2	PNN	38719588	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.199000	0.58426	2.274000	0.75844	0.524000	0.50904	GAA		0.443	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276776.2	NM_002687	
FSCB	84075	broad.mit.edu	37	14	44974051	44974051	+	Missense_Mutation	SNP	C	C	T	rs138388824	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:44974051C>T	ENST00000340446.4	-	1	2431	c.2140G>A	c.(2140-2142)Gtt>Att	p.V714I	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	714						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.V714I(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TGTTTGTCAACGGAGGCCTCT	0.517																																					p.V714I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2140A	14						.	C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	43.0	48.0	46.0		2140	-1.0	0.0	14	dbSNP_134	46	7,8593	5.7+/-21.5	0,7,4293	yes	missense	FSCB	NM_032135.3	29	0,8,6495	TT,TC,CC		0.0814,0.0227,0.0615	possibly-damaging	714/826	44974051	8,12998	2203	4300	6503	44043801	SO:0001583	missense	84075	exon1			AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.2140G>A	14.37:g.44974051C>T	ENSP00000344579:p.Val714Ile		44043801	NM_032135	Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	8.842	0.942403	0.18281	2.27E-4	8.14E-4	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.15372	2.43	4.36	-0.978	0.10279	.	.	.	.	.	T	0.11665	0.0284	L	0.53249	1.67	0.09310	N	1	P	0.36587	0.559	B	0.29663	0.105	T	0.25363	-1.0134	9	0.23891	T	0.37	2.3149	5.3253	0.15903	0.0:0.4869:0.1449:0.3682	.	714	Q5H9T9	FSCB_HUMAN	I	714;607	ENSP00000344579:V714I	ENSP00000344579:V714I	V	-	1	0	FSCB	44043801	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.407000	0.21049	-0.008000	0.14320	0.555000	0.69702	GTT		0.517	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135	
FANCM	57697	broad.mit.edu	37	14	45636336	45636336	+	Nonsense_Mutation	SNP	C	C	T	rs368728266		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:45636336C>T	ENST00000267430.5	+	11	2057	c.1972C>T	c.(1972-1974)Cga>Tga	p.R658*	FANCM_ENST00000556036.1_Nonsense_Mutation_p.R658*|FANCM_ENST00000542564.2_Nonsense_Mutation_p.R632*	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	658					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)	p.R658*(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GAACTTGCAGCGAAAGTCATC	0.388								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				C|||	1	0.000199681	0.0	0.0	5008	,	,		15726	0.0		0.0	False		,,,				2504	0.001				p.R658X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1972T	14						.	C	stop/ARG	0,4406		0,0,2203	88.0	92.0	91.0		1972	2.3	0.0	14		91	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	FANCM	NM_020937.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		658/2049	45636336	1,13005	2203	4300	6503	44706086	SO:0001587	stop_gained	57697	exon11	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.1972C>T	14.37:g.45636336C>T	ENSP00000267430:p.Arg658*		44706086	NM_020937	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Nonsense_Mutation	SNP	ENST00000267430.5	37	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	C	37	6.273109	0.97431	0.0	1.16E-4	ENSG00000187790	ENST00000556036;ENST00000267430;ENST00000542564;ENST00000556250	.	.	.	5.15	2.31	0.28768	.	0.943101	0.08772	N	0.896060	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.4846	0.16743	0.1595:0.6712:0.0:0.1693	.	.	.	.	X	658;658;632;174	.	ENSP00000267430:R658X	R	+	1	2	FANCM	44706086	0.000000	0.05858	0.001000	0.08648	0.811000	0.45836	0.442000	0.21628	0.266000	0.21894	0.563000	0.77884	CGA		0.388	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128	
ATL1	51062	broad.mit.edu	37	14	51087381	51087381	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:51087381C>A	ENST00000358385.6	+	9	1168	c.927C>A	c.(925-927)agC>agA	p.S309R	ATL1_ENST00000441560.2_Missense_Mutation_p.S309R|ATL1_ENST00000357032.3_Missense_Mutation_p.S309R|ATL1_ENST00000354525.4_Missense_Mutation_p.S309R	NM_015915.4	NP_056999.2	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	309	GB1/RHD3-type G.				axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.S309R(1)		central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						GTCCCGAGAGCCTAGATATTA	0.368																																					p.S309R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C927A	14						.						91.0	96.0	94.0					14																	51087381		2203	4300	6503	50157131	SO:0001583	missense	51062	exon9			AF131801	CCDS9700.1, CCDS32077.1	14q21.3	2014-09-17	2008-09-17	2008-09-17	ENSG00000198513	ENSG00000198513			11231	protein-coding gene	gene with protein product	"""atlastin"""	606439	"""spastic paraplegia 3A (autosomal dominant)"""	SPG3, SPG3A		8252041, 7825576	Standard	NM_015915		Approved	FSP1, AD-FSP	uc001wyd.4	Q8WXF7	OTTHUMG00000140297	ENST00000358385.6:c.927C>A	14.37:g.51087381C>A	ENSP00000351155:p.Ser309Arg		50157131	NM_181598	A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Missense_Mutation	SNP	ENST00000358385.6	37	CCDS9700.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.786592	0.49997	.	.	ENSG00000198513	ENST00000441560;ENST00000358385;ENST00000357032;ENST00000354525	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.84	3.98	0.46160	Guanylate-binding protein, N-terminal (1);	0.331492	0.43110	N	0.000615	T	0.51227	0.1662	N	0.01352	-0.895	0.44409	D	0.997325	B;B	0.02656	0.0;0.0	B;B	0.12156	0.007;0.004	T	0.50583	-0.8811	10	0.42905	T	0.14	-0.2438	12.4261	0.55548	0.0:0.8607:0.0:0.1393	.	309;309	Q8WXF7;G5E9T1	ATLA1_HUMAN;.	R	309	ENSP00000413675:S309R;ENSP00000351155:S309R;ENSP00000349534:S309R;ENSP00000346522:S309R	ENSP00000346522:S309R	S	+	3	2	ATL1	50157131	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.311000	0.51919	1.444000	0.47605	0.655000	0.94253	AGC		0.368	ATL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276884.2		
DLGAP5	9787	broad.mit.edu	37	14	55637464	55637464	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:55637464C>T	ENST00000247191.2	-	11	1559	c.1343G>A	c.(1342-1344)tGc>tAc	p.C448Y	DLGAP5_ENST00000395425.2_Missense_Mutation_p.C448Y	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	448					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)	p.C448Y(1)		biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						CCACTCGAAGCAATGTGAAGT	0.338																																					p.C448Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1343A	14						.						179.0	151.0	161.0					14																	55637464		2203	4300	6503	54707217	SO:0001583	missense	9787	exon11			D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.1343G>A	14.37:g.55637464C>T	ENSP00000247191:p.Cys448Tyr		54707217	NM_001146015	A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	ENST00000247191.2	37	CCDS9723.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473778	0.63737	.	.	ENSG00000126787	ENST00000395425;ENST00000247191	T;T	0.39229	1.09;1.09	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.73799	0.3633	M	0.91196	3.185	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79349	-0.1840	10	0.87932	D	0	.	19.8696	0.96845	0.0:1.0:0.0:0.0	.	448;448	A8MTM6;Q15398	.;DLGP5_HUMAN	Y	448	ENSP00000378815:C448Y;ENSP00000247191:C448Y	ENSP00000247191:C448Y	C	-	2	0	DLGAP5	54707217	1.000000	0.71417	0.985000	0.45067	0.453000	0.32348	5.236000	0.65354	2.776000	0.95493	0.655000	0.94253	TGC		0.338	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	NM_014750	
DAAM1	23002	broad.mit.edu	37	14	59830448	59830448	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:59830448C>A	ENST00000395125.1	+	23	2827	c.2804C>A	c.(2803-2805)gCc>gAc	p.A935D	DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000360909.3_Missense_Mutation_p.A925D|DAAM1_ENST00000351081.1_Missense_Mutation_p.A935D	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	935	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)	p.A935D(1)		breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		ATCACAGTAGCCAGCTTCAGC	0.483																																					p.A935D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2804A	14						.						135.0	123.0	127.0					14																	59830448		2203	4300	6503	58900201	SO:0001583	missense	23002	exon24			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.2804C>A	14.37:g.59830448C>A	ENSP00000378557:p.Ala935Asp		58900201	NM_014992	Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	C	35	5.528301	0.96446	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000395125	T;T;T	0.25749	1.78;1.78;1.78	5.66	5.66	0.87406	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.65491	0.2696	H	0.94582	3.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.75485	-0.3301	10	0.87932	D	0	.	19.7566	0.96296	0.0:1.0:0.0:0.0	.	925;935	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	D	925;935;935	ENSP00000354162:A925D;ENSP00000247170:A935D;ENSP00000378557:A935D	ENSP00000247170:A935D	A	+	2	0	DAAM1	58900201	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.818000	0.86416	2.671000	0.90904	0.563000	0.77884	GCC		0.483	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992	
RTN1	6252	broad.mit.edu	37	14	60074190	60074190	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:60074190G>A	ENST00000267484.5	-	4	2121	c.1786C>T	c.(1786-1788)Cgg>Tgg	p.R596W	RTN1_ENST00000557422.1_5'UTR|RTN1_ENST00000395090.1_Missense_Mutation_p.R13W|RTN1_ENST00000342503.4_Missense_Mutation_p.R28W	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	596	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)		p.R596W(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TTGATGTCCCGCCAATACAAC	0.602																																					p.R596W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1786T	14						.						27.0	27.0	27.0					14																	60074190		2203	4298	6501	59143943	SO:0001583	missense	6252	exon4			L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.1786C>T	14.37:g.60074190G>A	ENSP00000267484:p.Arg596Trp		59143943	NM_021136	Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340109	0.81911	.	.	ENSG00000139970	ENST00000432103;ENST00000267484;ENST00000395090;ENST00000342503;ENST00000433623	T;T;T	0.55930	0.49;0.49;0.49	5.99	3.16	0.36331	.	0.000000	0.85682	D	0.000000	T	0.79364	0.4433	M	0.93763	3.455	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.85102	0.0958	10	0.87932	D	0	.	16.5098	0.84281	0.0:0.0:0.7264:0.2736	.	13;596;28	A8MT72;Q16799;Q16799-3	.;RTN1_HUMAN;.	W	176;596;13;28;522	ENSP00000267484:R596W;ENSP00000378525:R13W;ENSP00000340716:R28W	ENSP00000267484:R596W	R	-	1	2	RTN1	59143943	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.108000	0.50337	0.412000	0.25729	0.655000	0.94253	CGG		0.602	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2		
PPM1A	5494	broad.mit.edu	37	14	60749447	60749447	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:60749447A>C	ENST00000395076.4	+	2	456	c.26A>C	c.(25-27)aAg>aCg	p.K9T	PPM1A_ENST00000325658.3_Missense_Mutation_p.K9T|PPM1A_ENST00000325642.3_Missense_Mutation_p.K82T|PPM1A_ENST00000529574.1_Missense_Mutation_p.K9T	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	9					cell cycle arrest (GO:0007050)|dephosphorylation (GO:0016311)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|N-terminal protein myristoylation (GO:0006499)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|protein dephosphorylation (GO:0006470)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|voltage-gated calcium channel complex (GO:0005891)	calmodulin-dependent protein phosphatase activity (GO:0033192)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)|R-SMAD binding (GO:0070412)|signal transducer activity (GO:0004871)	p.K9T(1)		cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		GACAAGCCAAAGATGGAAAAG	0.438																																					p.K9T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A26C	14						.						172.0	173.0	173.0					14																	60749447		2203	4300	6503	59819200	SO:0001583	missense	5494	exon2			S87759	CCDS9744.1, CCDS9745.1, CCDS45120.1	14q23.1	2013-01-24	2010-03-05		ENSG00000100614	ENSG00000100614	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9275	protein-coding gene	gene with protein product	"""phosphatase 2C alpha"", ""protein phosphatase 2C, alpha isoform"""	606108	"""protein phosphatase 1A (formerly 2C), magnesium-dependent, alpha isoform"""			1311954	Standard	NM_177952		Approved	MGC9201, PP2Calpha, PP2CA	uc001xew.4	P35813	OTTHUMG00000140333	ENST00000395076.4:c.26A>C	14.37:g.60749447A>C	ENSP00000378514:p.Lys9Thr		59819200	NM_021003	B5BU11|J3KNM0|O75551	Missense_Mutation	SNP	ENST00000395076.4	37	CCDS9744.1	.	.	.	.	.	.	.	.	.	.	A	17.25	3.340791	0.60963	.	.	ENSG00000100614	ENST00000325642;ENST00000529574;ENST00000395076;ENST00000325658;ENST00000528241;ENST00000525399;ENST00000531937	T;T;T;T;T;T;T	0.09350	2.99;2.99;2.99;2.99;2.99;2.99;2.99	5.75	5.75	0.90469	Protein phosphatase 2C-like (2);	0.000000	0.85682	D	0.000000	T	0.23014	0.0556	M	0.85462	2.755	0.80722	D	1	B;B;B	0.30211	0.003;0.273;0.088	B;B;B	0.35770	0.035;0.21;0.098	T	0.01748	-1.1282	10	0.38643	T	0.18	-4.9807	16.0345	0.80612	1.0:0.0:0.0:0.0	.	9;9;9	P35813;P35813-2;B2R8E4	PPM1A_HUMAN;.;.	T	82;9;9;9;9;9;9	ENSP00000327255:K82T;ENSP00000432966:K9T;ENSP00000378514:K9T;ENSP00000314850:K9T;ENSP00000431453:K9T;ENSP00000435398:K9T;ENSP00000435575:K9T	ENSP00000327255:K82T	K	+	2	0	PPM1A	59819200	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.183000	0.69458	0.482000	0.46254	AAG		0.438	PPM1A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276949.2	NM_021003	
PPM1A	5494	broad.mit.edu	37	14	60749764	60749764	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:60749764A>G	ENST00000395076.4	+	2	773	c.343A>G	c.(343-345)Atg>Gtg	p.M115V	PPM1A_ENST00000325658.3_Missense_Mutation_p.M115V|PPM1A_ENST00000325642.3_Missense_Mutation_p.M188V|PPM1A_ENST00000529574.1_Missense_Mutation_p.M115V	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	115					cell cycle arrest (GO:0007050)|dephosphorylation (GO:0016311)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|N-terminal protein myristoylation (GO:0006499)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|protein dephosphorylation (GO:0006470)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|voltage-gated calcium channel complex (GO:0005891)	calmodulin-dependent protein phosphatase activity (GO:0033192)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)|R-SMAD binding (GO:0070412)|signal transducer activity (GO:0004871)	p.M115V(1)		cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		CATGAGAGTTATGTCAGAGAA	0.403																																					p.M115V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A343G	14						.						116.0	113.0	114.0					14																	60749764		2203	4300	6503	59819517	SO:0001583	missense	5494	exon2			S87759	CCDS9744.1, CCDS9745.1, CCDS45120.1	14q23.1	2013-01-24	2010-03-05		ENSG00000100614	ENSG00000100614	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9275	protein-coding gene	gene with protein product	"""phosphatase 2C alpha"", ""protein phosphatase 2C, alpha isoform"""	606108	"""protein phosphatase 1A (formerly 2C), magnesium-dependent, alpha isoform"""			1311954	Standard	NM_177952		Approved	MGC9201, PP2Calpha, PP2CA	uc001xew.4	P35813	OTTHUMG00000140333	ENST00000395076.4:c.343A>G	14.37:g.60749764A>G	ENSP00000378514:p.Met115Val		59819517	NM_021003	B5BU11|J3KNM0|O75551	Missense_Mutation	SNP	ENST00000395076.4	37	CCDS9744.1	.	.	.	.	.	.	.	.	.	.	A	11.51	1.659142	0.29515	.	.	ENSG00000100614	ENST00000325642;ENST00000529574;ENST00000395076;ENST00000325658;ENST00000528241;ENST00000525399;ENST00000531937	T;T;T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32;2.32;2.32	5.75	5.75	0.90469	Protein phosphatase 2C-like (5);	0.103748	0.85682	D	0.000000	T	0.09024	0.0223	N	0.10707	0.03	0.43292	D	0.995273	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.30179	-0.9987	9	.	.	.	-4.3181	12.5431	0.56184	0.8611:0.1389:0.0:0.0	.	115;115;115	P35813;P35813-2;B2R8E4	PPM1A_HUMAN;.;.	V	188;115;115;115;115;115;115	ENSP00000327255:M188V;ENSP00000432966:M115V;ENSP00000378514:M115V;ENSP00000314850:M115V;ENSP00000431453:M115V;ENSP00000435398:M115V;ENSP00000435575:M115V	.	M	+	1	0	PPM1A	59819517	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.085000	0.71343	2.183000	0.69458	0.482000	0.46254	ATG		0.403	PPM1A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276949.2	NM_021003	
C14orf39	317761	broad.mit.edu	37	14	60903565	60903565	+	Stop_Codon_Del	DEL	A	A	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:60903565delA	ENST00000321731.3	-	0	1921					NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39						multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)			p.*588fs?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TGACTAGCTCAAAAAAAAGTA	0.289																																					p.X588E												.	.	2	Deletion - Frameshift(2)	upper_aerodigestive_tract(1)|large_intestine(1)	c.1762delT	14						.						73.0	85.0	81.0					14																	60903565		2201	4295	6496	59973318	SO:0001567	stop_retained_variant	317761	exon18			AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	Exception_encountered	14.37:g.60903565delA	Exception_encountered		59973318	NM_174978	Q08AQ4	Frame_Shift_Del	DEL	ENST00000321731.3	37	CCDS9746.1																																																																																				0.289	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276948.1	NM_174978	
SYT16	83851	broad.mit.edu	37	14	62547865	62547865	+	Missense_Mutation	SNP	G	G	A	rs368814141		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:62547865G>A	ENST00000430451.2	+	4	1504	c.1307G>A	c.(1306-1308)cGc>cAc	p.R436H	RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	436	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)			p.R416H(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GTCCGCTTCCGCCTGTACGCT	0.562																																					p.R436H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1307A	14						.	G	HIS/ARG	0,4356		0,0,2178	31.0	35.0	34.0		1307	5.0	1.0	14		34	1,8579		0,1,4289	no	missense	SYT16	NM_031914.2	29	0,1,6467	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging	436/646	62547865	1,12935	2178	4290	6468	61617618	SO:0001583	missense	83851	exon4			BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1307G>A	14.37:g.62547865G>A	ENSP00000394700:p.Arg436His		61617618	NM_031914	B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	ENST00000430451.2	37	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	G	33	5.238157	0.95240	0.0	1.17E-4	ENSG00000139973	ENST00000430451	T	0.69175	-0.38	4.96	4.96	0.65561	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.80607	0.4655	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81512	-0.0899	10	0.62326	D	0.03	-31.7789	18.7783	0.91920	0.0:0.0:1.0:0.0	.	436	Q17RD7	SYT16_HUMAN	H	436	ENSP00000394700:R436H	ENSP00000394700:R436H	R	+	2	0	SYT16	61617618	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.601000	0.98297	2.731000	0.93534	0.650000	0.86243	CGC		0.562	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914	
SYNE2	23224	broad.mit.edu	37	14	64453328	64453328	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:64453328C>T	ENST00000344113.4	+	19	2518	c.2306C>T	c.(2305-2307)tCt>tTt	p.S769F	SYNE2_ENST00000554584.1_Missense_Mutation_p.S769F|SYNE2_ENST00000358025.3_Missense_Mutation_p.S769F|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	769					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.S769F(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATGGAAGAATCTTTGAAGGTA	0.348																																					p.S769F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2306T	14						.						119.0	112.0	114.0					14																	64453328		1863	4098	5961	63523081	SO:0001583	missense	23224	exon19			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.2306C>T	14.37:g.64453328C>T	ENSP00000341781:p.Ser769Phe		63523081	NM_015180	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.593466	0.28357	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.58506	0.69;0.69;0.33	5.67	4.77	0.60923	.	0.804043	0.11110	N	0.598722	T	0.55337	0.1914	L	0.40543	1.245	0.80722	D	1	P;P	0.47677	0.838;0.899	B;P	0.48141	0.364;0.568	T	0.52071	-0.8624	10	0.62326	D	0.03	.	7.8802	0.29618	0.1584:0.7589:0.0:0.0827	.	769;769	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	F	769	ENSP00000350719:S769F;ENSP00000341781:S769F;ENSP00000452570:S769F	ENSP00000261678:S769F	S	+	2	0	SYNE2	63523081	0.015000	0.18098	0.591000	0.28745	0.438000	0.31896	0.186000	0.16978	1.364000	0.46038	0.563000	0.77884	TCT		0.348	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	
SYNE2	23224	broad.mit.edu	37	14	64532226	64532226	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:64532226G>T	ENST00000344113.4	+	51	10501	c.10289G>T	c.(10288-10290)aGg>aTg	p.R3430M	SYNE2_ENST00000554584.1_Missense_Mutation_p.R3463M|SYNE2_ENST00000555002.1_Missense_Mutation_p.R64M|SYNE2_ENST00000358025.3_Missense_Mutation_p.R3430M|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3430					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.R3430M(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTGAGACTCAGGTGCACAGAA	0.408																																					p.R3430M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G10289T	14						.						152.0	143.0	146.0					14																	64532226		1926	4135	6061	63601979	SO:0001583	missense	23224	exon51			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.10289G>T	14.37:g.64532226G>T	ENSP00000341781:p.Arg3430Met		63601979	NM_015180	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.422071	0.43020	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002	T;T;T;T	0.55413	0.89;0.89;0.52;4.24	5.61	-4.17	0.03857	.	1.167980	0.06069	N	0.659712	T	0.30479	0.0766	N	0.08118	0	0.19300	N	0.999976	B;B	0.15141	0.007;0.012	B;B	0.10450	0.002;0.005	T	0.26087	-1.0113	10	0.37606	T	0.19	.	10.6675	0.45739	0.0:0.128:0.3519:0.5202	.	3430;3430	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	M	3430;3430;3463;3463;64	ENSP00000350719:R3430M;ENSP00000341781:R3430M;ENSP00000452570:R3463M;ENSP00000450831:R64M	ENSP00000261678:R3463M	R	+	2	0	SYNE2	63601979	0.000000	0.05858	0.002000	0.10522	0.900000	0.52787	-0.391000	0.07323	-0.437000	0.07243	0.650000	0.86243	AGG		0.408	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	
SYNE2	23224	broad.mit.edu	37	14	64688372	64688372	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:64688372G>A	ENST00000344113.4	+	111	20283	c.20071G>A	c.(20071-20073)Gat>Aat	p.D6691N	SYNE2_ENST00000554584.1_Missense_Mutation_p.D6607N|SYNE2_ENST00000394768.2_Missense_Mutation_p.D3076N|SYNE2_ENST00000555002.1_Missense_Mutation_p.D3348N|SYNE2_ENST00000554805.1_Missense_Mutation_p.D474N|SYNE2_ENST00000358025.3_Missense_Mutation_p.D6714N|SYNE2_ENST00000357395.3_Missense_Mutation_p.D3076N|SYNE2_ENST00000458046.2_Missense_Mutation_p.D362N|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555022.1_Missense_Mutation_p.D569N|SYNE2_ENST00000441438.2_Missense_Mutation_p.D236N	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6691					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.D6714N(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCATGTCACCGATCCAAAGGC	0.542																																					p.D362N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1084A	14						.						146.0	145.0	145.0					14																	64688372		2203	4300	6503	63758125	SO:0001583	missense	23224	exon7			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.20071G>A	14.37:g.64688372G>A	ENSP00000341781:p.Asp6691Asn		63758125	NM_182913	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.535732	0.27475	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046;ENST00000441438	T;T;T;T;T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16	6.08	0.75	0.18387	.	0.472885	0.19005	N	0.125238	T	0.24928	0.0605	L	0.43757	1.38	0.09310	N	1	B;B;B;B;B;B;B;B	0.31752	0.051;0.003;0.025;0.025;0.07;0.008;0.079;0.338	B;B;B;B;B;B;B;B	0.30029	0.025;0.008;0.033;0.033;0.024;0.003;0.045;0.11	T	0.11591	-1.0581	10	0.35671	T	0.21	.	6.3319	0.21274	0.3259:0.1187:0.5554:0.0	.	348;3076;236;362;1093;6607;6691;6714	B4DND7;Q8WXH0-7;Q8WXH0-6;Q8WXH0-5;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;.;.;.;SYNE2_HUMAN;.	N	6714;3076;6691;6607;6613;3348;3076;569;474;362;236	ENSP00000350719:D6714N;ENSP00000349969:D3076N;ENSP00000341781:D6691N;ENSP00000452570:D6607N;ENSP00000450831:D3348N;ENSP00000378249:D3076N;ENSP00000451009:D569N;ENSP00000450605:D474N;ENSP00000391937:D362N;ENSP00000396794:D236N	ENSP00000261678:D6613N	D	+	1	0	SYNE2	63758125	0.421000	0.25465	0.000000	0.03702	0.012000	0.07955	0.539000	0.23175	-0.120000	0.11809	-0.775000	0.03384	GAT		0.542	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	
AKAP5	9495	broad.mit.edu	37	14	64935670	64935670	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:64935670C>T	ENST00000394718.4	+	2	936	c.558C>T	c.(556-558)atC>atT	p.I186I	ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000555424.1_Intron|AKAP5_ENST00000320636.5_Silent_p.I186I	NM_004857.3	NP_004848.3	P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	186					energy reserve metabolic process (GO:0006112)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)	p.I186I(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		GTGAAGGCATCTCACGGAAAG	0.418																																					p.I186I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C558T	14						.						100.0	105.0	104.0					14																	64935670		2203	4300	6503	64005423	SO:0001819	synonymous_variant	9495	exon2			M90359	CCDS9764.1	14q23.3	2012-05-16			ENSG00000179841	ENSG00000179841		"""A-kinase anchor proteins"""	375	protein-coding gene	gene with protein product		604688				1512224, 1618839	Standard	NM_004857		Approved	AKAP75, AKAP79	uc001xhd.4	P24588	OTTHUMG00000029634	ENST00000394718.4:c.558C>T	14.37:g.64935670C>T			64005423	NM_004857	A2RRB8	Silent	SNP	ENST00000394718.4	37	CCDS9764.1																																																																																				0.418	AKAP5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268070.3		
RDH11	51109	broad.mit.edu	37	14	68145068	68145068	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:68145068A>G	ENST00000381346.4	-	7	1037	c.927T>C	c.(925-927)agT>agC	p.S309S	RP11-1012A1.4_ENST00000554493.1_Intron|RP11-1012A1.4_ENST00000553306.1_Intron|RDH11_ENST00000428130.2_Silent_p.S239S|RDH11_ENST00000553384.1_Silent_p.S296S	NM_001252650.1|NM_016026.3	NP_001239579.1|NP_057110.3	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11 (all-trans/9-cis/11-cis)	309					adaptation of rhodopsin mediated signaling (GO:0016062)|phototransduction, visible light (GO:0007603)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|photoreceptor inner segment (GO:0001917)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)	p.S309S(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	GCAGGTCACAACTGACGTCCC	0.502																																					p.S309S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T927C	14						.						103.0	95.0	97.0					14																	68145068		2203	4300	6503	67214821	SO:0001819	synonymous_variant	51109	exon7			AF151840	CCDS32104.1, CCDS58326.1	14q24.1	2013-10-15	2006-05-09		ENSG00000072042	ENSG00000072042	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	17964	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 1"", ""androgen-regulated short-chain dehydrogenase/reductase 1"""	607849	"""retinol dehydrogenase 11 (all-trans and 9-cis)"""			12226107, 8018917, 19027726	Standard	NM_016026		Approved	MDT1, SDR7C1, ARSDR1	uc001xjv.4	Q8TC12	OTTHUMG00000171196	ENST00000381346.4:c.927T>C	14.37:g.68145068A>G			67214821	NM_016026	A6NDK3|A8K062|B2RB26|B4DDW0|Q0QD40|Q6IAH5|Q9NRW0|Q9Y391	Silent	SNP	ENST00000381346.4	37	CCDS32104.1																																																																																				0.502	RDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412257.3		
ADAM21	8747	broad.mit.edu	37	14	70924867	70924867	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:70924867C>T	ENST00000603540.1	+	2	909	c.651C>T	c.(649-651)aaC>aaT	p.N217N	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Silent_p.N217N	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	217	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N217N(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TTGTGGTGAACCATGATTTCT	0.418																																					p.N217N												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C651T	14						.						56.0	60.0	59.0					14																	70924867		2203	4296	6499	69994620	SO:0001819	synonymous_variant	8747	exon1			AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.651C>T	14.37:g.70924867C>T			69994620	NM_003813	O43507|Q2VPC6|Q32MR0	Silent	SNP	ENST00000603540.1	37	CCDS9804.1																																																																																				0.418	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3		
SIPA1L1	26037	broad.mit.edu	37	14	72090828	72090828	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:72090828G>A	ENST00000555818.1	+	4	2041	c.1693G>A	c.(1693-1695)Gcc>Acc	p.A565T	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.A565T|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.A40T|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.A565T	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	565					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)	p.A565T(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GCACTCGACAGCCAGAGGCCT	0.587																																					p.A565T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1693A	14						.						166.0	150.0	155.0					14																	72090828		2203	4300	6503	71160581	SO:0001583	missense	26037	exon4			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.1693G>A	14.37:g.72090828G>A	ENSP00000450832:p.Ala565Thr		71160581	NM_015556	J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.454627	0.63290	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413;ENST00000555066	T;T;T;D;D	0.93859	-1.1;-1.09;-1.1;-1.93;-3.3	5.39	5.39	0.77823	.	0.187056	0.56097	D	0.000025	D	0.88097	0.6345	N	0.17474	0.49	0.58432	D	0.999998	B;B;B;B;B	0.29862	0.073;0.007;0.038;0.097;0.259	B;B;B;B;B	0.28553	0.091;0.011;0.024;0.037;0.079	D	0.84731	0.0745	10	0.32370	T	0.25	-28.25	19.34	0.94337	0.0:0.0:1.0:0.0	.	40;565;40;565;565	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	T	565;565;565;40;66	ENSP00000370630:A565T;ENSP00000450832:A565T;ENSP00000351352:A565T;ENSP00000440682:A40T;ENSP00000452450:A66T	ENSP00000351352:A565T	A	+	1	0	SIPA1L1	71160581	1.000000	0.71417	0.894000	0.35097	0.722000	0.41435	6.650000	0.74368	2.808000	0.96608	0.655000	0.94253	GCC		0.587	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556	
RBM25	58517	broad.mit.edu	37	14	73570071	73570071	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:73570071C>T	ENST00000261973.7	+	10	1324	c.1039C>T	c.(1039-1041)Cgg>Tgg	p.R347W	RBM25_ENST00000527432.1_Missense_Mutation_p.R347W	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	347	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R347W(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		ggaacgagaacgggataggga	0.532																																					p.R347W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1039T	14						.						158.0	135.0	143.0					14																	73570071		2203	4300	6503	72639824	SO:0001583	missense	58517	exon10			BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.1039C>T	14.37:g.73570071C>T	ENSP00000261973:p.Arg347Trp		72639824	NM_021239	A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	ENST00000261973.7	37	CCDS32113.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.232109	0.39399	.	.	ENSG00000119707	ENST00000261973;ENST00000527432	T;T	0.16196	2.36;2.36	5.75	5.75	0.90469	.	0.059729	0.64402	D	0.000002	T	0.34193	0.0889	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.01428	-1.1357	10	0.72032	D	0.01	.	13.7892	0.63128	0.1531:0.8469:0.0:0.0	.	347	P49756	RBM25_HUMAN	W	347	ENSP00000261973:R347W;ENSP00000431150:R347W	ENSP00000261973:R347W	R	+	1	2	RBM25	72639824	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.895000	0.48648	2.712000	0.92718	0.655000	0.94253	CGG		0.532	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330	
ALDH6A1	4329	broad.mit.edu	37	14	74538925	74538925	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:74538925T>G	ENST00000553458.1	-	4	427	c.329A>C	c.(328-330)cAa>cCa	p.Q110P	ALDH6A1_ENST00000350259.4_Intron|ALDH6A1_ENST00000555126.1_5'Flank|AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000556852.1_5'UTR|CCDC176_ENST00000553773.1_Intron	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	110					branched-chain amino acid catabolic process (GO:0009083)|brown fat cell differentiation (GO:0050873)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|thymine metabolic process (GO:0019859)|valine catabolic process (GO:0006574)|valine metabolic process (GO:0006573)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fatty-acyl-CoA binding (GO:0000062)|malonate-semialdehyde dehydrogenase (acetylating) activity (GO:0018478)|methylmalonate-semialdehyde dehydrogenase (acylating) activity (GO:0004491)|poly(A) RNA binding (GO:0044822)	p.Q110P(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)		TTTAATAAGTTGTTGATAGCG	0.453																																					p.Q110P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A329C	14						.						76.0	75.0	75.0					14																	74538925		2203	4300	6503	73608678	SO:0001583	missense	4329	exon4			M93405	CCDS9826.1, CCDS61501.1	14q24.3	2014-02-03			ENSG00000119711	ENSG00000119711	1.2.1.27	"""Aldehyde dehydrogenases"""	7179	protein-coding gene	gene with protein product		603178		MMSDH		1527093	Standard	NM_005589		Approved		uc001xpo.3	Q02252	OTTHUMG00000171203	ENST00000553458.1:c.329A>C	14.37:g.74538925T>G	ENSP00000450436:p.Gln110Pro		73608678	NM_005589	B2R609|B4DFS8|J3KNU8|Q9UKM8	Missense_Mutation	SNP	ENST00000553458.1	37	CCDS9826.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.147019	0.77888	.	.	ENSG00000119711	ENST00000553458	T	0.76968	-1.06	5.28	5.28	0.74379	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.82518	0.5054	M	0.84585	2.705	0.80722	D	1	P	0.41624	0.757	P	0.44772	0.46	T	0.82766	-0.0295	10	0.32370	T	0.25	.	15.3773	0.74621	0.0:0.0:0.0:1.0	.	110	Q02252	MMSA_HUMAN	P	110	ENSP00000450436:Q110P	ENSP00000342564:Q110P	Q	-	2	0	ALDH6A1	73608678	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.868000	0.87116	2.216000	0.71823	0.533000	0.62120	CAA		0.453	ALDH6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412309.1		
VRTN	55237	broad.mit.edu	37	14	74824696	74824696	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:74824696C>T	ENST00000256362.4	+	2	1451	c.1210C>T	c.(1210-1212)Cgg>Tgg	p.R404W		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	404					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)	p.R404W(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CTTAATGCAGCGGGCCAAGTT	0.572																																					p.R404W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1210T	14						.						111.0	96.0	101.0					14																	74824696		2203	4300	6503	73894449	SO:0001583	missense	55237	exon2			AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.1210C>T	14.37:g.74824696C>T	ENSP00000256362:p.Arg404Trp		73894449	NM_018228	Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.102578	0.56183	.	.	ENSG00000133980	ENST00000256362	T	0.47869	0.83	5.01	0.708	0.18144	.	0.435009	0.21761	N	0.069511	T	0.44582	0.1300	N	0.24115	0.695	0.29716	N	0.83901	D	0.89917	1.0	P	0.60415	0.874	T	0.42292	-0.9460	10	0.62326	D	0.03	-3.0744	7.8208	0.29286	0.2444:0.3301:0.4255:0.0	.	404	Q9H8Y1	VRTN_HUMAN	W	404	ENSP00000256362:R404W	ENSP00000256362:R404W	R	+	1	2	VRTN	73894449	1.000000	0.71417	0.974000	0.42286	0.881000	0.50899	3.315000	0.51951	0.256000	0.21614	-0.313000	0.08912	CGG		0.572	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228	
LTBP2	4053	broad.mit.edu	37	14	74970012	74970012	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:74970012G>A	ENST00000261978.4	-	33	5184	c.4798C>T	c.(4798-4800)Cgt>Tgt	p.R1600C	LTBP2_ENST00000556690.1_Missense_Mutation_p.R1556C	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1600	TB 4.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.R1600C(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CGGTGCCCACGCAGGGGTTCG	0.632																																					p.R1600C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4798T	14						.						115.0	94.0	101.0					14																	74970012		2203	4300	6503	74039765	SO:0001583	missense	4053	exon33				CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.4798C>T	14.37:g.74970012G>A	ENSP00000261978:p.Arg1600Cys		74039765	NM_000428	Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.175718	0.57692	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	D;D	0.92595	-3.07;-3.07	4.86	4.86	0.63082	Matrix fibril-associated (3);TGF-beta binding (1);	0.344301	0.20953	N	0.082720	D	0.90414	0.6999	L	0.29908	0.895	0.47476	D	0.999435	D	0.60160	0.987	P	0.52758	0.708	D	0.87276	0.2289	10	0.12430	T	0.62	.	18.1759	0.89761	0.0:0.0:1.0:0.0	.	1600	Q14767	LTBP2_HUMAN	C	1600;1556	ENSP00000261978:R1600C;ENSP00000451477:R1556C	ENSP00000261978:R1600C	R	-	1	0	LTBP2	74039765	0.777000	0.28628	0.842000	0.33263	0.119000	0.20118	2.514000	0.45503	2.507000	0.84556	0.561000	0.74099	CGT		0.632	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428	
ESRRB	2103	broad.mit.edu	37	14	76964735	76964735	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:76964735C>T	ENST00000509242.1	+	8	1334	c.1236C>T	c.(1234-1236)agC>agT	p.S412S	ESRRB_ENST00000556177.1_Silent_p.S412S|ESRRB_ENST00000380887.2_Silent_p.S412S|ESRRB_ENST00000261532.7_Silent_p.S412S|RP11-187O7.3_ENST00000554926.1_lincRNA	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	412					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S412S(1)		endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		ACTTCTATAGCGTCAAACTGC	0.627																																					p.S412S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1236T	14						.						22.0	23.0	23.0					14																	76964735		2203	4300	6503	76034488	SO:0001819	synonymous_variant	2103	exon9			X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"""Nuclear hormone receptors"""	3473	protein-coding gene	gene with protein product		602167	"""deafness, autosomal recessive 35"""	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.1236C>T	14.37:g.76964735C>T			76034488	NM_004452	A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Silent	SNP	ENST00000509242.1	37	CCDS9850.2																																																																																				0.627	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1		
ADCK1	57143	broad.mit.edu	37	14	78397973	78397973	+	Missense_Mutation	SNP	G	G	A	rs140999497	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:78397973G>A	ENST00000238561.5	+	10	1418	c.1319G>A	c.(1318-1320)gGc>gAc	p.G440D	ADCK1_ENST00000341211.5_Missense_Mutation_p.G372D|ADCK1_ENST00000556560.1_3'UTR	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	447	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G372D(1)|p.G440D(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		CTGCTGCGTGGCATTGAGGCC	0.627																																					p.G372D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1115A	14						.	G	ASP/GLY,ASP/GLY	0,4406		0,0,2203	88.0	71.0	77.0		1115,1319	4.9	1.0	14	dbSNP_134	77	12,8588	9.1+/-34.3	0,12,4288	yes	missense,missense	ADCK1	NM_001142545.1,NM_020421.3	94,94	0,12,6491	AA,AG,GG		0.1395,0.0,0.0923	possibly-damaging,possibly-damaging	372/456,440/524	78397973	12,12994	2203	4300	6503	77467726	SO:0001583	missense	57143	exon9			AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.1319G>A	14.37:g.78397973G>A	ENSP00000238561:p.Gly440Asp		77467726	NM_001142545	B3KUD5|Q6PD65|Q9UIE6	Missense_Mutation	SNP	ENST00000238561.5	37	CCDS9869.1	.	.	.	.	.	.	.	.	.	.	G	34	5.296444	0.95574	0.0	0.001395	ENSG00000063761	ENST00000238561;ENST00000341211	T;T	0.67345	-0.26;1.14	4.93	4.93	0.64822	.	0.054528	0.64402	D	0.000001	T	0.81394	0.4813	M	0.90198	3.095	0.80722	D	1	P;P;P	0.51653	0.726;0.947;0.821	B;P;P	0.52598	0.342;0.703;0.543	D	0.86016	0.1504	10	0.66056	D	0.02	-31.6503	18.5888	0.91200	0.0:0.0:1.0:0.0	.	447;372;440	Q86TW2;Q9UIE6;Q86TW2-2	ADCK1_HUMAN;.;.	D	440;372	ENSP00000238561:G440D;ENSP00000339663:G372D	ENSP00000238561:G440D	G	+	2	0	ADCK1	77467726	1.000000	0.71417	0.991000	0.47740	0.987000	0.75469	9.647000	0.98478	2.454000	0.82982	0.549000	0.68633	GGC		0.627	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1	NM_020421	
GALC	2581	broad.mit.edu	37	14	88401203	88401203	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:88401203A>T	ENST00000261304.2	-	17	2037	c.1931T>A	c.(1930-1932)aTg>aAg	p.M644K	GALC_ENST00000393568.4_Missense_Mutation_p.M621K|GALC_ENST00000393569.2_Missense_Mutation_p.M618K|GALC_ENST00000544807.2_Intron	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	644					carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)	p.M644K(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTCATTCAGCATGCCAGAGGT	0.433																																					p.M644K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1931A	14						.						77.0	74.0	75.0					14																	88401203		1888	4123	6011	87470956	SO:0001583	missense	2581	exon17			L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"""Krabbe disease"""	606890	"""galactosylceramidase (Krabbe disease)"""				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.1931T>A	14.37:g.88401203A>T	ENSP00000261304:p.Met644Lys		87470956	NM_000153	B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Missense_Mutation	SNP	ENST00000261304.2	37	CCDS9878.2	.	.	.	.	.	.	.	.	.	.	A	4.803	0.149342	0.09185	.	.	ENSG00000054983	ENST00000261304;ENST00000393569;ENST00000539620;ENST00000393568	D;D;D	0.94046	-3.34;-3.34;-3.34	5.6	-4.04	0.04010	.	0.750880	0.14176	N	0.336337	D	0.84275	0.5436	L	0.34521	1.04	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.69760	-0.5058	10	0.32370	T	0.25	-5.1065	3.9871	0.09521	0.4697:0.0:0.2061:0.3242	.	621;618;644	E7EPA4;P54803-4;P54803	.;.;GALC_HUMAN	K	644;618;433;621	ENSP00000261304:M644K;ENSP00000377199:M618K;ENSP00000377198:M621K	ENSP00000261304:M644K	M	-	2	0	GALC	87470956	0.000000	0.05858	0.076000	0.20297	0.245000	0.25701	-0.247000	0.08866	-0.879000	0.04002	0.528000	0.53228	ATG		0.433	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2		
PTPN21	11099	broad.mit.edu	37	14	88946438	88946438	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:88946438C>T	ENST00000556564.1	-	13	1621	c.1337G>A	c.(1336-1338)cGc>cAc	p.R446H	PTPN21_ENST00000328736.3_Missense_Mutation_p.R446H	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	446					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)	p.R446H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGGGGTGGGGCGGTAGGACGG	0.627																																					p.R446H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1337A	14						.						58.0	44.0	48.0					14																	88946438		2203	4300	6503	88016191	SO:0001583	missense	11099	exon13			X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.1337G>A	14.37:g.88946438C>T	ENSP00000452414:p.Arg446His		88016191	NM_007039		Missense_Mutation	SNP	ENST00000556564.1	37	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	C	34	5.412690	0.96072	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	T;T	0.80304	-1.36;-1.36	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.90570	0.7044	M	0.80422	2.495	0.58432	D	0.999995	D	0.89917	1.0	D	0.83275	0.996	D	0.91420	0.5158	10	0.87932	D	0	.	19.3678	0.94471	0.0:1.0:0.0:0.0	.	446	Q16825	PTN21_HUMAN	H	446	ENSP00000330276:R446H;ENSP00000452414:R446H	ENSP00000330276:R446H	R	-	2	0	PTPN21	88016191	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.818000	0.86416	2.585000	0.87301	0.555000	0.69702	CGC		0.627	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1		
ZC3H14	79882	broad.mit.edu	37	14	89073689	89073689	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:89073689A>G	ENST00000251038.5	+	13	2075	c.1850A>G	c.(1849-1851)cAc>cGc	p.H617R	ZC3H14_ENST00000555900.1_Missense_Mutation_p.H319R|ZC3H14_ENST00000556945.1_Missense_Mutation_p.H486R|ZC3H14_ENST00000393514.5_Missense_Mutation_p.H592R|ZC3H14_ENST00000302216.8_Missense_Mutation_p.H461R|ZC3H14_ENST00000406216.3_Missense_Mutation_p.H163R|ZC3H14_ENST00000318308.6_Missense_Mutation_p.H188R|ZC3H14_ENST00000555755.1_Missense_Mutation_p.H612R|ZC3H14_ENST00000557607.1_Missense_Mutation_p.H306R|ZC3H14_ENST00000336693.4_Missense_Mutation_p.H452R|ZC3H14_ENST00000359301.3_Missense_Mutation_p.H452R	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	617						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						GCCTACCATCACCCCATCTCA	0.532																																					p.H612R												.	.	0			c.A1835G	14						.						146.0	111.0	123.0					14																	89073689		2203	4300	6503	88143442	SO:0001583	missense	79882	exon13			AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"""Zinc fingers, CCCH-type domain containing"""	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.1850A>G	14.37:g.89073689A>G	ENSP00000251038:p.His617Arg		88143442	NM_001160104	A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Missense_Mutation	SNP	ENST00000251038.5	37	CCDS32133.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.17|16.17	3.048271|3.048271	0.55110|0.55110	.|.	.|.	ENSG00000100722|ENSG00000100722	ENST00000251038;ENST00000393530;ENST00000359301;ENST00000302216;ENST00000380684;ENST00000556945;ENST00000557607;ENST00000555755;ENST00000393514;ENST00000336693;ENST00000318308;ENST00000555900;ENST00000406216;ENST00000555792|ENST00000556000	.|.	.|.	.|.	5.64|5.64	5.64|5.64	0.86602|0.86602	Zinc finger, CCCH-type (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86130|0.86130	0.5859|0.5859	M|M	0.93763|0.93763	3.455|3.455	0.50467|0.50467	D|D	0.99987|0.99987	D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;0.998;1.0;1.0;1.0;1.0;0.999|.	D;D;D;D;D;D;D;D|.	0.97110|.	0.999;1.0;0.995;0.999;0.999;0.996;0.999;0.999|.	D|D	0.89871|0.89871	0.4023|0.4023	9|5	0.87932|.	D|.	0|.	-15.7666|-15.7666	15.8579|15.8579	0.78994|0.78994	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	486;467;612;617;163;188;461;617|.	G3V256;F8W848;G3V5R4;Q6PJT7-2;Q6PJT7-8;Q6PJT7-6;Q6PJT7-3;Q6PJT7|.	.;.;.;.;.;.;.;ZC3HE_HUMAN|.	R|A	617;592;452;461;467;486;306;612;592;452;188;319;163;21|533	.|.	ENSP00000251038:H617R|.	H|T	+|+	2|1	0|0	ZC3H14|ZC3H14	88143442|88143442	1.000000|1.000000	0.71417|0.71417	0.559000|0.559000	0.28332|0.28332	0.468000|0.468000	0.32798|0.32798	8.931000|8.931000	0.92884|0.92884	2.151000|2.151000	0.67156|0.67156	0.528000|0.528000	0.53228|0.53228	CAC|ACC		0.532	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	NM_024824	
EML5	161436	broad.mit.edu	37	14	89123777	89123777	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:89123777C>T	ENST00000380664.5	-	27	3946	c.3947G>A	c.(3946-3948)cGc>cAc	p.R1316H	EML5_ENST00000352093.5_Missense_Mutation_p.R1278H|EML5_ENST00000554922.1_Missense_Mutation_p.R1316H			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1316						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)	p.R1316H(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TAACATTGGGCGAATATTTGT	0.313																																					p.R1316H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3947A	14						.						139.0	123.0	128.0					14																	89123777		1856	4094	5950	88193530	SO:0001583	missense	161436	exon27			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.3947G>A	14.37:g.89123777C>T	ENSP00000370039:p.Arg1316His		88193530	NM_183387	B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.019209	0.93462	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.55930	0.56;0.49;0.93	4.99	4.99	0.66335	WD40 repeat-like-containing domain (1);	0.069911	0.56097	D	0.000029	T	0.70081	0.3183	M	0.64997	1.995	0.52501	D	0.999958	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.67647	-0.5617	10	0.36615	T	0.2	-10.7604	18.0835	0.89451	0.0:1.0:0.0:0.0	.	1316;1316	Q05BV3-5;Q05BV3	.;EMAL5_HUMAN	H	1316;1278;1316	ENSP00000451998:R1316H;ENSP00000298315:R1278H;ENSP00000370039:R1316H	ENSP00000298315:R1278H	R	-	2	0	EML5	88193530	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.187000	0.77730	2.609000	0.88269	0.650000	0.86243	CGC		0.313	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1		
RPS6KA5	9252	broad.mit.edu	37	14	91365735	91365735	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:91365735C>T	ENST00000261991.3	-	12	1584	c.1411G>A	c.(1411-1413)Gct>Act	p.A471T	RPS6KA5_ENST00000418736.2_Missense_Mutation_p.A471T|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.A392T	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	471	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.A471T(2)		endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		AGTTTCAGAGCTGTTATTTCC	0.373																																					p.A471T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1411A	14						.						221.0	199.0	206.0					14																	91365735		2203	4300	6503	90435488	SO:0001583	missense	9252	exon12			AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"""ribosomal protein S6 kinase, 90kD, polypeptide 5"""			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.1411G>A	14.37:g.91365735C>T	ENSP00000261991:p.Ala471Thr		90435488	NM_004755	O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	37	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.931862	0.73442	.	.	ENSG00000100784	ENST00000261991;ENST00000536315;ENST00000418736	T;T;T	0.65732	-0.17;-0.17;-0.17	6.02	5.13	0.70059	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.216607	0.48767	D	0.000175	T	0.45216	0.1331	N	0.16368	0.405	0.80722	D	1	P;B	0.36065	0.535;0.203	B;B	0.32393	0.145;0.052	T	0.41305	-0.9516	10	0.30854	T	0.27	.	15.455	0.75305	0.0:0.9337:0.0:0.0663	.	471;471	O75582-2;O75582	.;KS6A5_HUMAN	T	471;392;471	ENSP00000261991:A471T;ENSP00000442803:A392T;ENSP00000402787:A471T	ENSP00000261991:A471T	A	-	1	0	RPS6KA5	90435488	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.447000	0.80620	1.554000	0.49487	0.650000	0.86243	GCT		0.373	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755	
TC2N	123036	broad.mit.edu	37	14	92258713	92258713	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:92258713A>G	ENST00000435962.2	-	9	1368	c.1045T>C	c.(1045-1047)Tct>Cct	p.S349P	TC2N_ENST00000556018.1_Intron|TC2N_ENST00000360594.5_Missense_Mutation_p.S349P|TC2N_ENST00000340892.5_Missense_Mutation_p.S349P	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	349					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	nucleus (GO:0005634)		p.S349P(1)		breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		TCGCTTACAGAAATTTTTGAA	0.353																																					p.S349P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1045C	14						.						128.0	127.0	127.0					14																	92258713		2203	4300	6503	91328466	SO:0001583	missense	123036	exon9			AA243837	CCDS9897.1, CCDS73679.1	14q32.12	2007-10-17	2007-08-17	2007-08-17		ENSG00000165929			19859	protein-coding gene	gene with protein product	"""C2 calcium-dependent domain containing 1"""		"""chromosome 14 open reading frame 47"", ""membrane targeting (tandem) C2 domain containing 1"""	C14orf47, MTAC2D1		11526914	Standard	NM_001128596		Approved	FLJ36557, Tac2-N, C2CD1	uc001xzt.4	Q8N9U0		ENST00000435962.2:c.1045T>C	14.37:g.92258713A>G	ENSP00000387882:p.Ser349Pro		91328466	NM_001128596		Missense_Mutation	SNP	ENST00000435962.2	37	CCDS9897.1	.	.	.	.	.	.	.	.	.	.	A	12.00	1.807322	0.31961	.	.	ENSG00000165929	ENST00000435962;ENST00000340892;ENST00000360594;ENST00000556590	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	5.31	5.31	0.75309	C2 calcium/lipid-binding domain, CaLB (1);	0.292496	0.39407	N	0.001368	T	0.58438	0.2122	N	0.14661	0.345	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.55835	-0.8078	10	0.41790	T	0.15	-21.5002	5.5113	0.16882	0.759:0.0:0.0868:0.1542	.	349	Q8N9U0	TAC2N_HUMAN	P	349;349;349;101	ENSP00000387882:S349P;ENSP00000343199:S349P;ENSP00000353802:S349P;ENSP00000450922:S101P	ENSP00000343199:S349P	S	-	1	0	TC2N	91328466	0.896000	0.30565	1.000000	0.80357	0.954000	0.61252	0.851000	0.27751	1.995000	0.58328	0.455000	0.32223	TCT		0.353	TC2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411778.1	NM_152332	
SLC24A4	123041	broad.mit.edu	37	14	92949109	92949109	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:92949109C>T	ENST00000532405.1	+	13	1567	c.1341C>T	c.(1339-1341)ccC>ccT	p.P447P	SLC24A4_ENST00000298877.1_Silent_p.P430P|SLC24A4_ENST00000351924.5_Silent_p.P411P|SLC24A4_ENST00000531433.1_Silent_p.P428P|SLC24A4_ENST00000393265.2_Silent_p.P383P			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	447					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		GCAGCAAGCCCCGCTGGGAGA	0.602																																					p.P447P	NSCLC(10;315 435 10383 28450 38798)											.	.	0			c.C1341T	14						.						120.0	100.0	107.0					14																	92949109		2203	4300	6503	92018862	SO:0001819	synonymous_variant	123041	exon13			AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.1341C>T	14.37:g.92949109C>T			92018862	NM_153646	B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Silent	SNP	ENST00000532405.1	37	CCDS9903.2	.	.	.	.	.	.	.	.	.	.	C	10.91	1.484408	0.26598	.	.	ENSG00000140090	ENST00000525557	T	0.73152	-0.72	5.64	-2.32	0.06745	.	0.156065	0.64402	D	0.000020	T	0.63010	0.2475	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54912	-0.8222	7	0.45353	T	0.12	.	1.8811	0.03228	0.1557:0.4255:0.1989:0.22	.	.	.	.	S	313	ENSP00000432464:P313S	ENSP00000432464:P313S	P	+	1	0	SLC24A4	92018862	0.407000	0.25352	0.993000	0.49108	0.998000	0.95712	-0.442000	0.06871	-0.257000	0.09459	0.561000	0.74099	CCG		0.602	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646	
RIN3	79890	broad.mit.edu	37	14	93125640	93125640	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:93125640G>A	ENST00000216487.7	+	7	2320	c.2161G>A	c.(2161-2163)Gcc>Acc	p.A721T	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	721	Interaction with RAB5B.|VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.A721T(1)		endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				AGTGATCCTGGCCACCACCAC	0.567																																					p.A721T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2161A	14						.						151.0	124.0	133.0					14																	93125640		2203	4300	6503	92195393	SO:0001583	missense	79890	exon7			BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.2161G>A	14.37:g.93125640G>A	ENSP00000216487:p.Ala721Thr		92195393	NM_024832	Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Missense_Mutation	SNP	ENST00000216487.7	37	CCDS32144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.47|12.47	1.949028|1.949028	0.34377|0.34377	.|.	.|.	ENSG00000100599|ENSG00000100599	ENST00000216487;ENST00000428147|ENST00000556418	T|.	0.29397|.	1.57|.	5.8|5.8	3.94|3.94	0.45596|0.45596	Vacuolar sorting protein 9 (1);|.	0.260199|.	0.36778|.	N|.	0.002416|.	T|T	0.32466|0.32466	0.0830|0.0830	N|N	0.11064|0.11064	0.09|0.09	0.80722|0.80722	D|D	1|1	P;P;P;D|.	0.58970|.	0.699;0.483;0.728;0.984|.	B;B;B;P|.	0.50136|.	0.306;0.084;0.084;0.632|.	T|T	0.06391|0.06391	-1.0829|-1.0829	10|5	0.26408|.	T|.	0.33|.	-21.1028|-21.1028	6.9815|6.9815	0.24706|0.24706	0.0961:0.0:0.6054:0.2985|0.0961:0.0:0.6054:0.2985	.|.	721;767;646;721|.	Q8TB24-4;Q86U22;Q6ZRC2;Q8TB24|.	.;.;.;RIN3_HUMAN|.	T|D	721;645|237	ENSP00000216487:A721T|.	ENSP00000216487:A721T|.	A|G	+|+	1|2	0|0	RIN3|RIN3	92195393|92195393	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.648000|0.648000	0.38561|0.38561	2.825000|2.825000	0.48096|0.48096	0.776000|0.776000	0.33473|0.33473	0.555000|0.555000	0.69702|0.69702	GCC|GGC		0.567	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1		
BTBD7	55727	broad.mit.edu	37	14	93761193	93761193	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:93761193delT	ENST00000334746.5	-	3	480	c.173delA	c.(172-174)aagfs	p.K58fs	BTBD7_ENST00000298896.3_Frame_Shift_Del_p.K58fs|BTBD7_ENST00000555525.1_Frame_Shift_Del_p.K58fs|BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000393170.2_5'Flank	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	58					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)		p.K58fs*44(2)|p.R59fs*14(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AGAGGTTCTCTTTTTTTTGTC	0.438																																					p.K58fs												.	.	4	Deletion - Frameshift(2)|Insertion - Frameshift(2)	large_intestine(4)	c.173delA	14						.						102.0	109.0	107.0					14																	93761193		2203	4300	6503	92830946	SO:0001589	frameshift_variant	55727	exon3			AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.173delA	14.37:g.93761193delT	ENSP00000335615:p.Lys58fs		92830946	NM_018167	A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Frame_Shift_Del	DEL	ENST00000334746.5	37	CCDS32146.1																																																																																				0.438	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860	
AK7	122481	broad.mit.edu	37	14	96917802	96917802	+	Silent	SNP	G	G	A	rs114724004	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:96917802G>A	ENST00000267584.4	+	10	1037	c.993G>A	c.(991-993)gcG>gcA	p.A331A		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	331					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GAATGGAAGCGCTCTTTGTGA	0.373													g|||	4	0.000798722	0.0	0.0	5008	,	,		17779	0.003		0.0	False		,,,				2504	0.001				p.A331A												.	.	0			c.G993A	14						.	A		0,4406		0,0,2203	85.0	82.0	83.0		993	-11.4	0.0	14	dbSNP_132	83	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	AK7	NM_152327.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		331/724	96917802	2,13004	2203	4300	6503	95987555	SO:0001819	synonymous_variant	122481	exon10			AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.993G>A	14.37:g.96917802G>A			95987555	NM_152327	Q8IYP6	Silent	SNP	ENST00000267584.4	37	CCDS9945.1																																																																																				0.373	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1		
AK7	122481	broad.mit.edu	37	14	96953318	96953318	+	Silent	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:96953318C>A	ENST00000267584.4	+	17	2102	c.2058C>A	c.(2056-2058)acC>acA	p.T686T		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	686	DPY-30.				axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)	p.T686T(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		ATTTAATGACCTATGTGATGC	0.363																																					p.T686T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2058A	14						.						94.0	92.0	93.0					14																	96953318		2203	4300	6503	96023071	SO:0001819	synonymous_variant	122481	exon17			AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.2058C>A	14.37:g.96953318C>A			96023071	NM_152327	Q8IYP6	Silent	SNP	ENST00000267584.4	37	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	C	5.301	0.240990	0.10077	.	.	ENSG00000140057	ENST00000554706	.	.	.	5.45	-0.122	0.13531	.	.	.	.	.	T	0.66499	0.2795	.	.	.	0.51012	D	0.9999	.	.	.	.	.	.	T	0.66015	-0.6028	4	.	.	.	-25.7908	14.26	0.66078	0.1002:0.2349:0.6648:0.0	.	.	.	.	I	108	.	.	L	+	1	2	AK7	96023071	0.557000	0.26546	0.497000	0.27552	0.730000	0.41778	0.884000	0.28214	0.310000	0.22990	0.591000	0.81541	CTA		0.363	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1		
AHNAK2	113146	broad.mit.edu	37	14	105419582	105419582	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr14:105419582C>T	ENST00000333244.5	-	7	2325	c.2206G>A	c.(2206-2208)Gat>Aat	p.D736N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	736						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.D736N(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACTTGGCCATCCTGGACCTCC	0.647																																					p.D736N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2206A	14						.						88.0	100.0	96.0					14																	105419582		1936	4122	6058	104490627	SO:0001583	missense	113146	exon7			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2206G>A	14.37:g.105419582C>T	ENSP00000353114:p.Asp736Asn		104490627	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	7.202	0.593741	0.13875	.	.	ENSG00000185567	ENST00000333244	T	0.00724	5.78	2.91	-0.386	0.12466	.	.	.	.	.	T	0.00608	0.0020	N	0.24115	0.695	0.09310	N	1	P	0.36249	0.545	B	0.35114	0.196	T	0.48658	-0.9016	9	0.18710	T	0.47	.	6.0942	0.20010	0.0:0.67:0.1527:0.1773	.	736	Q8IVF2	AHNK2_HUMAN	N	736	ENSP00000353114:D736N	ENSP00000353114:D736N	D	-	1	0	AHNAK2	104490627	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-1.604000	0.02076	-0.663000	0.05331	0.556000	0.70494	GAT		0.647	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
OR4M2	390538	broad.mit.edu	37	15	22369114	22369114	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:22369114A>G	ENST00000332663.2	+	1	637	c.539A>G	c.(538-540)gAc>gGc	p.D180G	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D180G(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TACTTCTGTGACATCACACAG	0.488																																					p.D180G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A539G	15						.						289.0	224.0	246.0					15																	22369114		2203	4297	6500	19870478	SO:0001583	missense	390538	exon1			AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.539A>G	15.37:g.22369114A>G	ENSP00000329467:p.Asp180Gly		19870478	NM_001004719	B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	17.34	3.364908	0.61513	.	.	ENSG00000182974	ENST00000332663	T	0.00198	8.57	2.5	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000076	T	0.00784	0.0026	H	0.97131	3.945	0.43377	D	0.995473	D	0.89917	1.0	D	0.97110	1.0	T	0.51756	-0.8665	10	0.87932	D	0	-11.3667	8.5824	0.33637	1.0:0.0:0.0:0.0	.	180	Q8NGB6	OR4M2_HUMAN	G	180	ENSP00000329467:D180G	ENSP00000329467:D180G	D	+	2	0	OR4M2	19870478	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	8.624000	0.90961	1.167000	0.42706	0.368000	0.22195	GAC		0.488	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1		
OR4N4	283694	broad.mit.edu	37	15	22382623	22382623	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:22382623T>C	ENST00000328795.4	+	1	242	c.151T>C	c.(151-153)Tca>Cca	p.S51P	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S51P(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CACCATAAGGTCAGACCCTGG	0.458																																					p.S51P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T151C	15						.						150.0	154.0	153.0					15																	22382623		2201	4291	6492	19883987	SO:0001583	missense	283694	exon1			AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.151T>C	15.37:g.22382623T>C	ENSP00000332500:p.Ser51Pro		19883987	NM_001005241	Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	2.239	-0.374342	0.05034	.	.	ENSG00000183706	ENST00000328795	T	0.03124	4.04	3.24	2.05	0.26809	GPCR, rhodopsin-like superfamily (1);	0.599207	0.13956	N	0.351150	T	0.06690	0.0171	M	0.80183	2.485	0.09310	N	1	P	0.41159	0.74	B	0.39590	0.304	T	0.20840	-1.0263	10	0.40728	T	0.16	-1.2264	6.9167	0.24363	0.2063:0.0:0.0:0.7937	.	51	Q8N0Y3	OR4N4_HUMAN	P	51	ENSP00000332500:S51P	ENSP00000332500:S51P	S	+	1	0	OR4N4	19883987	0.000000	0.05858	0.246000	0.24233	0.038000	0.13279	-0.610000	0.05629	0.403000	0.25479	0.164000	0.16699	TCA		0.458	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1		
NIPA2	81614	broad.mit.edu	37	15	23006363	23006363	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:23006363C>T	ENST00000337451.3	-	8	1553	c.941G>A	c.(940-942)cGa>cAa	p.R314Q	NIPA2_ENST00000359727.4_Missense_Mutation_p.R295Q|NIPA2_ENST00000539711.2_Missense_Mutation_p.R295Q|NIPA2_ENST00000398013.3_Missense_Mutation_p.R314Q|NIPA2_ENST00000398014.2_Missense_Mutation_p.R314Q	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	314						early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)	p.R295Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		CTCGTCTTTTCGAAAAGACAC	0.383																																					p.R314Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G941A	15						.						59.0	58.0	58.0					15																	23006363		2203	4300	6503	20557804	SO:0001583	missense	81614	exon7			AY732242	CCDS73693.1, CCDS73694.1	15q11.2	2008-02-05			ENSG00000140157	ENSG00000140157			17044	protein-coding gene	gene with protein product		608146				14508708	Standard	NM_001008860		Approved		uc001yuz.3	Q8N8Q9	OTTHUMG00000129101	ENST00000337451.3:c.941G>A	15.37:g.23006363C>T	ENSP00000337618:p.Arg314Gln		20557804	NM_001008860	F8W7Y8|Q96F03|Q9BVS2	Missense_Mutation	SNP	ENST00000337451.3	37	CCDS10010.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.261949	0.59431	.	.	ENSG00000140157	ENST00000337451;ENST00000398014;ENST00000359727;ENST00000539711;ENST00000398013	D;D;D	0.90676	-2.71;-2.71;-2.69	5.76	5.76	0.90799	.	0.047542	0.85682	N	0.000000	T	0.81004	0.4733	N	0.08118	0	0.58432	D	0.999996	B;B	0.21753	0.06;0.016	B;B	0.17098	0.012;0.017	T	0.75739	-0.3212	10	0.30854	T	0.27	-7.9808	14.4921	0.67657	0.0:0.9299:0.0:0.0701	.	295;314	F8W7Y8;Q8N8Q9	.;NIPA2_HUMAN	Q	314;314;295;314;295	ENSP00000337618:R314Q;ENSP00000381096:R314Q;ENSP00000352762:R295Q	ENSP00000337618:R314Q	R	-	2	0	NIPA2	20557804	0.933000	0.31639	1.000000	0.80357	0.975000	0.68041	4.559000	0.60796	2.882000	0.98803	0.655000	0.94253	CGA		0.383	NIPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251137.1	NM_030922	
MKRN3	7681	broad.mit.edu	37	15	23811283	23811283	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:23811283G>A	ENST00000314520.3	+	1	830	c.354G>A	c.(352-354)tcG>tcA	p.S118S	MKRN3_ENST00000568252.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	118					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.S118S(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GTCGCTATTCGCACGACCTTT	0.602																																					p.S118S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G354A	15						.						58.0	59.0	59.0					15																	23811283		2203	4300	6503	21362376	SO:0001819	synonymous_variant	7681	exon1			U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.354G>A	15.37:g.23811283G>A			21362376	NM_005664		Silent	SNP	ENST00000314520.3	37	CCDS10013.1																																																																																				0.602	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664	
NDN	4692	broad.mit.edu	37	15	23931680	23931680	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:23931680C>A	ENST00000331837.4	-	1	770	c.685G>T	c.(685-687)Ggg>Tgg	p.G229W		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	229	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G229W(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CGCACGTCCCCGAAGGTGGAG	0.607									Prader-Willi syndrome																												p.G229W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G685T	15						.						36.0	35.0	35.0					15																	23931680		2202	4297	6499	21482773	SO:0001583	missense	4692	exon1	Familial Cancer Database	Prader-Labhart-Willi syndrome	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.685G>T	15.37:g.23931680C>A	ENSP00000332643:p.Gly229Trp		21482773	NM_002487	B2R6Z5	Missense_Mutation	SNP	ENST00000331837.4	37	CCDS10014.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.558826	0.45590	.	.	ENSG00000182636	ENST00000331837	T	0.06218	3.33	3.22	1.29	0.21616	.	0.061190	0.64402	D	0.000004	T	0.19366	0.0465	M	0.80616	2.505	0.29767	N	0.835051	D	0.89917	1.0	D	0.91635	0.999	T	0.03121	-1.1070	10	0.66056	D	0.02	.	4.4109	0.11432	0.0:0.6356:0.2342:0.1302	.	229	Q99608	NECD_HUMAN	W	229	ENSP00000332643:G229W	ENSP00000332643:G229W	G	-	1	0	NDN	21482773	0.669000	0.27502	0.364000	0.25888	0.977000	0.68977	1.852000	0.39348	0.370000	0.24538	0.561000	0.74099	GGG		0.607	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487	
SNRPN	6638	broad.mit.edu	37	15	25220524	25220524	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:25220524A>G	ENST00000400100.1	+	8	913	c.23A>G	c.(22-24)aAg>aGg	p.K8R	SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000346403.6_Missense_Mutation_p.K8R|SNRPN_ENST00000444203.2_Missense_Mutation_p.K12R|SNRPN_ENST00000390687.4_Missense_Mutation_p.K8R|SNRPN_ENST00000400098.1_Missense_Mutation_p.K8R|SNRPN_ENST00000577565.1_Missense_Mutation_p.K8R|SNRPN_ENST00000400097.1_Missense_Mutation_p.K8R|SNRPN_ENST00000554227.2_Missense_Mutation_p.K12R|SNURF_ENST00000338094.6_3'UTR	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	8					response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)	p.K8R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		AAGAGTAGCAAGATGCTGCAG	0.428									Prader-Willi syndrome																												p.K8R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A23G	15						.						139.0	135.0	136.0					15																	25220524		2201	4300	6501	22771617	SO:0001583	missense	6638	exon8	Familial Cancer Database	Prader-Labhart-Willi syndrome	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"""tissue-specific splicing protein"", ""SM protein N"", ""small nuclear ribonucleoprotein N"""	182279	"""Prader-Willi syndrome chromosome region"""	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.23A>G	15.37:g.25220524A>G	ENSP00000382972:p.Lys8Arg		22771617	NM_022807	B3KVR1|P14648|P17135|Q0D2Q5	Missense_Mutation	SNP	ENST00000400100.1	37	CCDS10017.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.120331	0.77323	.	.	ENSG00000128739	ENST00000400100;ENST00000400098;ENST00000400097;ENST00000554227;ENST00000390687;ENST00000444203	T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94	3.33	3.33	0.38152	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.48677	0.1513	M	0.64676	1.99	0.80722	D	1	P;P	0.49307	0.922;0.922	P;P	0.51701	0.677;0.677	T	0.50215	-0.8854	10	0.49607	T	0.09	-3.8208	10.3032	0.43665	1.0:0.0:0.0:0.0	.	12;8	B3KVR1;P63162	.;RSMN_HUMAN	R	8;8;8;12;8;12	ENSP00000382972:K8R;ENSP00000382970:K8R;ENSP00000382969:K8R;ENSP00000452342:K12R;ENSP00000375105:K8R;ENSP00000408767:K12R	ENSP00000375105:K8R	K	+	2	0	SNRPN	22771617	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.226000	0.89785	1.740000	0.51718	0.482000	0.46254	AAG		0.428	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413849.10	NM_003097	
UBE3A	7337	broad.mit.edu	37	15	25601120	25601120	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:25601120C>A	ENST00000397954.2	-	7	2051	c.2052G>T	c.(2050-2052)caG>caT	p.Q684H	UBE3A_ENST00000566215.1_Missense_Mutation_p.Q661H|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_Missense_Mutation_p.Q661H|UBE3A_ENST00000428984.2_Missense_Mutation_p.Q661H|UBE3A_ENST00000232165.3_Missense_Mutation_p.Q681H			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	684					androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)	p.Q684H(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		AAAGATCTGTCTGTGATATCT	0.323																																					p.Q681H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2043T	15						.						165.0	162.0	163.0					15																	25601120		2203	4298	6501	23152213	SO:0001583	missense	7337	exon9			AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.2052G>T	15.37:g.25601120C>A	ENSP00000381045:p.Gln684His		23152213	NM_130839	A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	37	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.678524	0.29783	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.76	1.85	0.25348	HECT (4);	0.163679	0.56097	D	0.000033	T	0.21631	0.0521	N	0.03115	-0.41	0.51767	D	0.999933	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.02893	-1.1097	10	0.24483	T	0.36	.	2.7678	0.05325	0.1104:0.4988:0.1187:0.2721	.	681;684	Q05086-3;Q05086	.;UBE3A_HUMAN	H	681;681;684;661;661	ENSP00000232165:Q681H;ENSP00000381045:Q684H;ENSP00000411258:Q661H;ENSP00000401265:Q661H	ENSP00000232165:Q681H	Q	-	3	2	UBE3A	23152213	0.913000	0.31002	0.999000	0.59377	0.993000	0.82548	0.030000	0.13688	0.094000	0.17404	-0.254000	0.11334	CAG		0.323	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462	
OCA2	4948	broad.mit.edu	37	15	28202750	28202750	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:28202750G>A	ENST00000354638.3	-	16	1923	c.1768C>T	c.(1768-1770)Ctg>Ttg	p.L590L	OCA2_ENST00000353809.5_Silent_p.L566L|OCA2_ENST00000382996.2_Silent_p.L590L	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	590					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)	p.L590L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AAGGTGTGCAGCCTCCGGGCG	0.632									Oculocutaneous Albinism																												p.L590L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1768T	15						.						36.0	39.0	38.0					15																	28202750		2190	4273	6463	25876345	SO:0001819	synonymous_variant	4948	exon16	Familial Cancer Database			CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1768C>T	15.37:g.28202750G>A			25876345	NM_000275	Q15211|Q15212|Q96EN1|Q9UMI5	Silent	SNP	ENST00000354638.3	37	CCDS10020.1																																																																																				0.632	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275	
HERC2	8924	broad.mit.edu	37	15	28419681	28419681	+	Nonsense_Mutation	SNP	A	A	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:28419681A>C	ENST00000261609.7	-	65	10025	c.9917T>G	c.(9916-9918)tTa>tGa	p.L3306*		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.L3306*(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTGGCCTTCTAAGCCTTGCAC	0.602																																					p.L3306X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T9917G	15						.						99.0	66.0	77.0					15																	28419681		2203	4300	6503	26093276	SO:0001587	stop_gained	8924	exon65			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.9917T>G	15.37:g.28419681A>C	ENSP00000261609:p.Leu3306*		26093276	NM_004667		Nonsense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	A	52	18.866710	0.99911	.	.	ENSG00000128731	ENST00000261609	.	.	.	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.9883	0.80179	1.0:0.0:0.0:0.0	.	.	.	.	X	3306	.	ENSP00000261609:L3306X	L	-	2	0	HERC2	26093276	0.998000	0.40836	0.033000	0.17914	0.326000	0.28443	9.335000	0.96500	2.180000	0.69256	0.482000	0.46254	TTA		0.602	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	
HERC2	8924	broad.mit.edu	37	15	28475600	28475600	+	Silent	SNP	G	G	A	rs141145226		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:28475600G>A	ENST00000261609.7	-	31	4830	c.4722C>T	c.(4720-4722)aaC>aaT	p.N1574N		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.N1574N(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CACTCTCTTCGTTTCCAATTT	0.328													G|||	1	0.000199681	0.0	0.0	5008	,	,		18078	0.0		0.001	False		,,,				2504	0.0				p.N1574N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4722T	15						.	G		1,2619		0,1,1309	30.0	41.0	37.0		4722	-1.3	1.0	15	dbSNP_134	37	3,4489		0,3,2243	no	coding-synonymous	HERC2	NM_004667.4		0,4,3552	AA,AG,GG		0.0668,0.0382,0.0562		1574/4835	28475600	4,7108	1310	2246	3556	26149195	SO:0001819	synonymous_variant	8924	exon31			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.4722C>T	15.37:g.28475600G>A			26149195	NM_004667		Silent	SNP	ENST00000261609.7	37	CCDS10021.1																																																																																				0.328	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	
TJP1	7082	broad.mit.edu	37	15	30064293	30064293	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:30064293T>A	ENST00000346128.6	-	4	760	c.286A>T	c.(286-288)Agg>Tgg	p.R96W	TJP1_ENST00000356107.6_Missense_Mutation_p.R96W|TJP1_ENST00000495972.2_Missense_Mutation_p.R96W|TJP1_ENST00000400011.2_Missense_Mutation_p.R100W|TJP1_ENST00000545208.2_Missense_Mutation_p.R96W	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	96	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.R96W(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CCACTTTTCCTTAGTTGCTGA	0.343																																					p.R96W	Melanoma(77;681 1843 6309 6570)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A286T	15						.						73.0	66.0	68.0					15																	30064293		1815	4077	5892	27851585	SO:0001583	missense	7082	exon4				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.286A>T	15.37:g.30064293T>A	ENSP00000281537:p.Arg96Trp		27851585	NM_175610	B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	T	15.60	2.881963	0.51908	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.22	4.07	0.47477	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.66684	0.2814	H	0.96269	3.795	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.83275	0.995;0.996;0.995;0.971	T	0.76361	-0.2987	9	.	.	.	.	12.4957	0.55927	0.0:0.0:0.1398:0.8602	.	89;96;96;100	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	W	96;100;96;96;96	ENSP00000281537:R96W;ENSP00000382890:R100W;ENSP00000441202:R96W;ENSP00000348416:R96W	.	R	-	1	2	TJP1	27851585	1.000000	0.71417	0.999000	0.59377	0.081000	0.17604	5.046000	0.64226	0.911000	0.36747	0.477000	0.44152	AGG		0.343	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257	
ARHGAP11B	89839	broad.mit.edu	37	15	30926428	30926428	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:30926428C>T	ENST00000428041.2	+	4	498	c.353C>T	c.(352-354)gCg>gTg	p.A118V		NM_001039841.1	NP_001034930.1	Q3KRB8	RHGBB_HUMAN	Rho GTPase activating protein 11B	118	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.A118V(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		TGTGATATTGCGGGACTTCTT	0.403																																					p.A118V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C353T	15						.						27.0	28.0	28.0					15																	30926428		2196	4275	6471	28713720	SO:0001583	missense	89839	exon4			BC105788	CCDS32185.1	15q13.2	2011-07-13				ENSG00000187951		"""Rho GTPase activating proteins"""	15782	protein-coding gene	gene with protein product	"""GAP (1-8)"""		"""family with sequence similarity 7, member B1"""	FAM7B1		11829490	Standard	NM_001039841		Approved	B'-T	uc001zet.1	Q3KRB8		ENST00000428041.2:c.353C>T	15.37:g.30926428C>T	ENSP00000392760:p.Ala118Val		28713720	NM_001039841		Missense_Mutation	SNP	ENST00000428041.2	37	CCDS32185.1	.	.	.	.	.	.	.	.	.	.	.	13.06	2.123671	0.37436	.	.	ENSG00000187951	ENST00000428041	T	0.57752	0.38	1.53	1.53	0.23141	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.184114	0.18377	U	0.143096	T	0.77631	0.4159	H	0.96111	3.77	0.50467	D	0.999875	D	0.89917	1.0	D	0.87578	0.998	T	0.80754	-0.1241	10	0.87932	D	0	.	9.0387	0.36305	0.0:1.0:0.0:0.0	.	118	Q3KRB8	RHGBB_HUMAN	V	118	ENSP00000392760:A118V	ENSP00000392760:A118V	A	+	2	0	ARHGAP11B	28713720	1.000000	0.71417	0.830000	0.32933	0.066000	0.16364	6.619000	0.74219	1.150000	0.42419	0.162000	0.16502	GCG		0.403	ARHGAP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430729.1	NM_001039841	
FAN1	22909	broad.mit.edu	37	15	31200380	31200380	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:31200380A>G	ENST00000362065.4	+	3	1585	c.1294A>G	c.(1294-1296)Acc>Gcc	p.T432A	FAN1_ENST00000561594.1_Missense_Mutation_p.T432A|FAN1_ENST00000565466.1_Missense_Mutation_p.T432A|FAN1_ENST00000561607.1_Missense_Mutation_p.T432A	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	432					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)	p.T432A(1)		autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						GATTAAGATGACCAAATTAGA	0.358								Direct reversal of damage																													p.T432A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1294G	15						.						156.0	145.0	149.0					15																	31200380		2202	4300	6502	28987672	SO:0001583	missense	22909	exon3				CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.1294A>G	15.37:g.31200380A>G	ENSP00000354497:p.Thr432Ala		28987672	NM_001146095	A8K4M2|Q86WU8	Missense_Mutation	SNP	ENST00000362065.4	37	CCDS32186.1	.	.	.	.	.	.	.	.	.	.	A	9.025	0.985887	0.18889	.	.	ENSG00000198690	ENST00000362065	T	0.36520	1.25	4.51	3.35	0.38373	.	0.541750	0.20873	N	0.084132	T	0.18130	0.0435	N	0.08118	0	0.09310	N	1	B;B;B	0.18310	0.0;0.0;0.027	B;B;B	0.12156	0.001;0.001;0.007	T	0.18967	-1.0320	10	0.19147	T	0.46	-8.7617	11.3702	0.49696	0.8478:0.1522:0.0:0.0	.	432;432;432	Q9Y2M0;D9MXF4;Q9Y2M0-2	FAN1_HUMAN;.;.	A	432	ENSP00000354497:T432A	ENSP00000354497:T432A	T	+	1	0	FAN1	28987672	0.959000	0.32827	0.011000	0.14972	0.387000	0.30353	4.597000	0.61062	0.660000	0.30964	0.455000	0.32223	ACC		0.358	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967	
OTUD7A	161725	broad.mit.edu	37	15	31851385	31851385	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:31851385G>A	ENST00000307050.4	-	3	429	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W	OTUD7A_ENST00000382902.1_Missense_Mutation_p.R113W	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	113					protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.R113W(1)		endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CGGGAAAGCCGCTTTTCTGCA	0.557																																					p.R113W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C337T	15						.						32.0	31.0	32.0					15																	31851385		2201	4300	6501	29638677	SO:0001583	missense	161725	exon3			AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.337C>T	15.37:g.31851385G>A	ENSP00000305926:p.Arg113Trp		29638677	NM_130901	Q8IWK5	Missense_Mutation	SNP	ENST00000307050.4	37	CCDS10026.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114354	0.77210	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.37584	1.19;1.19	5.75	5.75	0.90469	.	0.108661	0.64402	D	0.000007	T	0.57946	0.2088	M	0.66939	2.045	0.46725	D	0.999175	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	T	0.59731	-0.7399	10	0.87932	D	0	-14.9731	13.4104	0.60940	0.0:0.0:0.7255:0.2745	.	113;113	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	W	113	ENSP00000305926:R113W;ENSP00000372358:R113W	ENSP00000305926:R113W	R	-	1	2	OTUD7A	29638677	1.000000	0.71417	0.997000	0.53966	0.806000	0.45545	5.678000	0.68153	2.695000	0.91970	0.561000	0.74099	CGG		0.557	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901	
ARHGAP11A	9824	broad.mit.edu	37	15	32921923	32921923	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:32921923G>A	ENST00000361627.3	+	8	1787	c.1065G>A	c.(1063-1065)ttG>ttA	p.L355L	ARHGAP11A_ENST00000565905.1_Silent_p.L166L|ARHGAP11A_ENST00000563864.1_Silent_p.L355L|ARHGAP11A_ENST00000567348.1_Silent_p.L355L|ARHGAP11A_ENST00000543522.1_Silent_p.L166L	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	355					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.L355L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		TTGAGCTGTTGCCAAGTAATC	0.363																																					p.L355L	Colon(45;757 1134 30003 36652)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1065A	15						.						85.0	84.0	84.0					15																	32921923		2201	4299	6500	30709215	SO:0001819	synonymous_variant	9824	exon8			D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.1065G>A	15.37:g.32921923G>A			30709215	NM_199357	B4DZN9|Q6PI96|Q9Y3S6	Silent	SNP	ENST00000361627.3	37	CCDS10028.1																																																																																				0.363	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783	
RYR3	6263	broad.mit.edu	37	15	33872280	33872280	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:33872280C>T	ENST00000389232.4	+	13	1442	c.1372C>T	c.(1372-1374)Cga>Tga	p.R458*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.R458*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	458					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.R458*(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGAGGAGATGCGACATGAAGA	0.468																																					p.R458X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1372T	15						.						57.0	56.0	56.0					15																	33872280		1967	4158	6125	31659572	SO:0001587	stop_gained	6263	exon13				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.1372C>T	15.37:g.33872280C>T	ENSP00000373884:p.Arg458*		31659572	NM_001036	O15175|Q15412	Nonsense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	38	7.281354	0.98186	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	5.15	3.2	0.36748	.	0.376546	0.26594	N	0.023502	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	10.4145	0.44314	0.2354:0.5674:0.1972:0.0	.	.	.	.	X	458	.	ENSP00000354735:R458X	R	+	1	2	RYR3	31659572	1.000000	0.71417	0.777000	0.31699	0.920000	0.55202	2.526000	0.45607	0.691000	0.31592	0.655000	0.94253	CGA		0.468	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
RYR3	6263	broad.mit.edu	37	15	33955810	33955810	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:33955810G>A	ENST00000389232.4	+	36	5561	c.5491G>A	c.(5491-5493)Gac>Aac	p.D1831N	RYR3_ENST00000415757.3_Missense_Mutation_p.D1831N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1831	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.D1831N(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGCATTTGGTGACATTTATGT	0.502																																					p.D1831N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5491A	15						.						55.0	56.0	55.0					15																	33955810		2063	4211	6274	31743102	SO:0001583	missense	6263	exon36				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.5491G>A	15.37:g.33955810G>A	ENSP00000373884:p.Asp1831Asn		31743102	NM_001036	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	36	5.632202	0.96682	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.73469	-0.75;-0.75	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.85932	0.5812	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	0.993;1.0	P;D	0.91635	0.895;0.999	D	0.85701	0.1313	10	0.51188	T	0.08	.	19.0811	0.93182	0.0:0.0:1.0:0.0	.	1831;1831	Q15413-2;Q15413	.;RYR3_HUMAN	N	1831	ENSP00000373884:D1831N;ENSP00000399610:D1831N	ENSP00000354735:D1831N	D	+	1	0	RYR3	31743102	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.595000	0.98260	2.729000	0.93468	0.561000	0.74099	GAC		0.502	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
PGBD4	161779	broad.mit.edu	37	15	34396376	34396376	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:34396376C>T	ENST00000397766.2	+	1	2103	c.1644C>T	c.(1642-1644)taC>taT	p.Y548Y	EMC7_ENST00000256545.4_5'Flank|EMC7_ENST00000532113.1_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	548										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		GCTCCCAATACGACAAGGATG	0.478																																					p.Y548Y												.	.	0			c.C1644T	15						.						116.0	97.0	104.0					15																	34396376		2201	4298	6499	32183668	SO:0001819	synonymous_variant	161779	exon1			AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405			19401	protein-coding gene	gene with protein product							Standard	NM_152595		Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.1644C>T	15.37:g.34396376C>T			32183668	NM_152595	A1L487|A8K0C6|Q8N9E8	Silent	SNP	ENST00000397766.2	37	CCDS10033.1																																																																																				0.478	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251522.1		
SLC12A6	9990	broad.mit.edu	37	15	34553201	34553201	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:34553201G>A	ENST00000354181.3	-	4	829	c.337C>T	c.(337-339)Cga>Tga	p.R113*	SLC12A6_ENST00000560611.1_Nonsense_Mutation_p.R113*|SLC12A6_ENST00000558589.1_Nonsense_Mutation_p.R104*|SLC12A6_ENST00000458406.2_Nonsense_Mutation_p.R54*|SLC12A6_ENST00000451844.2_5'UTR|SLC12A6_ENST00000560164.1_5'UTR|SLC12A6_ENST00000397707.2_Nonsense_Mutation_p.R98*|SLC12A6_ENST00000290209.5_Nonsense_Mutation_p.R62*|SLC12A6_ENST00000558667.1_Nonsense_Mutation_p.R113*|SLC12A6_ENST00000397702.2_Nonsense_Mutation_p.R54*			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	113					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)	p.R62*(1)		central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TAAGCATTTCGAGCTTTCTTA	0.353																																					p.R98X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C292T	15						.						64.0	69.0	67.0					15																	34553201		2201	4297	6498	32340493	SO:0001587	stop_gained	9990	exon2			AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.337C>T	15.37:g.34553201G>A	ENSP00000346112:p.Arg113*		32340493	NM_001042497	A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Nonsense_Mutation	SNP	ENST00000354181.3	37	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359737	0.82353	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406	.	.	.	5.09	5.09	0.68999	.	0.328502	0.27896	N	0.017409	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	10.9374	0.47253	0.0866:0.0:0.9134:0.0	.	.	.	.	X	62;98;104;54;54	.	ENSP00000290209:R62X	R	-	1	2	SLC12A6	32340493	0.973000	0.33851	1.000000	0.80357	0.839000	0.47603	0.981000	0.29526	2.648000	0.89879	0.563000	0.77884	CGA		0.353	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135	
NUTM1	256646	broad.mit.edu	37	15	34642963	34642963	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:34642963C>T	ENST00000333756.4	+	3	939	c.784C>T	c.(784-786)Cca>Tca	p.P262S	NUTM1_ENST00000438749.3_Missense_Mutation_p.P280S|NUTM1_ENST00000537011.1_Missense_Mutation_p.P290S	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	262						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P262S(1)									GGAGGGACTGCCATTGGCTGT	0.527																																					p.P262S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C784T	15						.						86.0	72.0	77.0					15																	34642963		2201	4298	6499	32430255	SO:0001583	missense	256646	exon3			AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.784C>T	15.37:g.34642963C>T	ENSP00000329448:p.Pro262Ser		32430255	NM_175741	B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.358918	0.41801	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000333756	T;T;T	0.24723	1.84;1.84;1.84	5.28	4.3	0.51218	Nuclear Testis  protein, N-terminal (1);	0.299086	0.24240	N	0.040266	T	0.43188	0.1236	M	0.70595	2.14	0.35125	D	0.767419	D;D;D	0.69078	0.994;0.997;0.994	P;D;D	0.64321	0.891;0.913;0.924	T	0.48210	-0.9055	10	0.16420	T	0.52	.	12.6285	0.56644	0.0:0.8332:0.1668:0.0	.	280;290;262	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	S	290;280;262	ENSP00000444896:P290S;ENSP00000407031:P280S;ENSP00000329448:P262S	ENSP00000329448:P262S	P	+	1	0	C15orf55	32430255	1.000000	0.71417	0.999000	0.59377	0.449000	0.32228	2.717000	0.47227	2.454000	0.82982	0.650000	0.86243	CCA		0.527	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741	
THBS1	7057	broad.mit.edu	37	15	39882744	39882744	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:39882744G>T	ENST00000260356.5	+	14	2338	c.2173G>T	c.(2173-2175)Ggg>Tgg	p.G725W		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	725					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)	p.G725W(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		TCCCAACTCAGGGCAGGAAGA	0.443																																					p.G725W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2173T	15						.						146.0	133.0	137.0					15																	39882744		2200	4297	6497	37670036	SO:0001583	missense	7057	exon14				CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.2173G>T	15.37:g.39882744G>T	ENSP00000260356:p.Gly725Trp		37670036	NM_003246	A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.413810	0.83449	.	.	ENSG00000137801	ENST00000260356	D	0.97642	-4.47	5.79	5.79	0.91817	.	0.000000	0.36591	N	0.002503	D	0.99017	0.9664	H	0.95365	3.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99395	1.0926	10	0.87932	D	0	-24.2067	18.9963	0.92813	0.0:0.0:1.0:0.0	.	640;725	B4E3J7;P07996	.;TSP1_HUMAN	W	725	ENSP00000260356:G725W	ENSP00000260356:G725W	G	+	1	0	THBS1	37670036	1.000000	0.71417	0.818000	0.32626	0.630000	0.37929	9.869000	0.99810	2.738000	0.93877	0.655000	0.94253	GGG		0.443	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246	
MGA	23269	broad.mit.edu	37	15	42058415	42058415	+	Missense_Mutation	SNP	C	C	T	rs374431638		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:42058415C>T	ENST00000570161.1	+	23	8135	c.8135C>T	c.(8134-8136)aCg>aTg	p.T2712M	MGA_ENST00000389936.4_Missense_Mutation_p.T2673M|MGA_ENST00000545763.1_Missense_Mutation_p.T2503M|MGA_ENST00000219905.7_Missense_Mutation_p.T2712M|MGA_ENST00000566586.1_Missense_Mutation_p.T2503M			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.T2761M(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGCAGAGTGACGTTGGGTCCA	0.423																																					p.T2712M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8135T	15						.	C	MET/THR,MET/THR	4,3748		0,4,1872	58.0	56.0	56.0		7508,8135	0.8	0.0	15		56	0,8196		0,0,4098	no	missense,missense	MGA	NM_001080541.2,NM_001164273.1	81,81	0,4,5970	TT,TC,CC		0.0,0.1066,0.0335	benign,benign	2503/2857,2712/3066	42058415	4,11944	1876	4098	5974	39845707	SO:0001583	missense	23269	exon24			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.8135C>T	15.37:g.42058415C>T	ENSP00000457035:p.Thr2712Met		39845707	NM_001164273	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	2.823	-0.244447	0.05906	0.001066	0.0	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.84730	-1.89;-1.86;-1.88	5.23	0.837	0.18896	.	2.456720	0.01776	N	0.031476	T	0.76828	0.4042	N	0.14661	0.345	0.09310	N	1	P;P	0.43662	0.746;0.814	B;B	0.39217	0.294;0.212	T	0.68236	-0.5462	10	0.54805	T	0.06	.	11.512	0.50498	0.0:0.6766:0.0:0.3234	.	2503;2712	F5H7K2;E7ENI0	.;.	M	2712;2673;2503	ENSP00000219905:T2712M;ENSP00000374586:T2673M;ENSP00000442467:T2503M	ENSP00000219905:T2712M	T	+	2	0	MGA	39845707	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	0.500000	0.22562	0.061000	0.16311	-1.164000	0.01763	ACG		0.423	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1	
UBR1	197131	broad.mit.edu	37	15	43313558	43313558	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:43313558G>A	ENST00000290650.4	-	27	2933	c.2855C>T	c.(2854-2856)gCc>gTc	p.A952V	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	952					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A952V(1)		NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TATATTCATGGCTGAACTTCC	0.373																																					p.A952V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2855T	15						.						113.0	116.0	115.0					15																	43313558		2203	4299	6502	41100850	SO:0001583	missense	197131	exon27				CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.2855C>T	15.37:g.43313558G>A	ENSP00000290650:p.Ala952Val		41100850	NM_174916	O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.921661	0.52653	.	.	ENSG00000159459	ENST00000290650;ENST00000546274	T	0.44881	0.91	5.35	4.44	0.53790	.	0.366934	0.25564	N	0.029819	T	0.23370	0.0565	N	0.16478	0.41	0.80722	D	1	B;B	0.29955	0.263;0.047	B;B	0.29598	0.104;0.022	T	0.05321	-1.0892	10	0.11485	T	0.65	-32.9722	9.3645	0.38217	0.0727:0.0:0.7845:0.1428	.	952;952	B4DYL2;Q8IWV7	.;UBR1_HUMAN	V	952	ENSP00000290650:A952V	ENSP00000290650:A952V	A	-	2	0	UBR1	41100850	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	3.521000	0.53472	1.400000	0.46741	0.655000	0.94253	GCC		0.373	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916	
TP53BP1	7158	broad.mit.edu	37	15	43699612	43699612	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:43699612G>A	ENST00000263801.3	-	28	6140	c.5888C>T	c.(5887-5889)cCa>cTa	p.P1963L	TP53BP1_ENST00000382044.4_Missense_Mutation_p.P1968L|TP53BP1_ENST00000450115.2_Missense_Mutation_p.P1966L|TP53BP1_ENST00000382039.3_Missense_Mutation_p.P1918L	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1963	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)	p.P1963L(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TTTATATTTTGGATGCTGCTT	0.423								Other conserved DNA damage response genes																													p.P1963L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5888T	15						.						132.0	122.0	125.0					15																	43699612		2201	4298	6499	41486904	SO:0001583	missense	7158	exon28			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.5888C>T	15.37:g.43699612G>A	ENSP00000263801:p.Pro1963Leu		41486904	NM_005657	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.730000	0.89390	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	T;T;T;T	0.07908	3.15;3.15;3.27;3.16	5.02	5.02	0.67125	BRCT (2);	0.000000	0.85682	D	0.000000	T	0.28665	0.0710	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.76575	0.963;0.988;0.983	T	0.01156	-1.1434	10	0.87932	D	0	-8.3876	17.6898	0.88267	0.0:0.0:1.0:0.0	.	1963;1968;1966	Q12888;Q12888-2;F8VY86	TP53B_HUMAN;.;.	L	1963;1968;1918;1966	ENSP00000263801:P1963L;ENSP00000371475:P1968L;ENSP00000371470:P1918L;ENSP00000393497:P1966L	ENSP00000263801:P1963L	P	-	2	0	TP53BP1	41486904	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.858000	0.62947	2.486000	0.83907	0.460000	0.39030	CCA		0.423	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3		
DUOX2	50506	broad.mit.edu	37	15	45399066	45399066	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:45399066C>T	ENST00000603300.1	-	15	1997	c.1795G>A	c.(1795-1797)Gcc>Acc	p.A599T	DUOX2_ENST00000389039.6_Missense_Mutation_p.A599T	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	599					adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)	p.A599T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		ATGGTGATGGCAAAACCAGGG	0.592																																					p.A599T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1795A	15						.						58.0	55.0	56.0					15																	45399066		2196	4296	6492	43186358	SO:0001583	missense	50506	exon15			AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.1795G>A	15.37:g.45399066C>T	ENSP00000475084:p.Ala599Thr		43186358	NM_014080	A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.827099	0.32329	.	.	ENSG00000140279	ENST00000389039	.	.	.	4.99	4.99	0.66335	.	0.156244	0.56097	D	0.000032	T	0.22551	0.0544	N	0.08118	0	0.25621	N	0.986392	B;B	0.20887	0.005;0.049	B;B	0.19946	0.011;0.027	T	0.07597	-1.0764	9	0.02654	T	1	-13.4042	17.2607	0.87069	0.0:1.0:0.0:0.0	.	599;161	Q9NRD8;Q59GU9	DUOX2_HUMAN;.	T	599	.	ENSP00000373691:A599T	A	-	1	0	DUOX2	43186358	1.000000	0.71417	1.000000	0.80357	0.503000	0.33858	4.493000	0.60341	2.315000	0.78130	0.462000	0.41574	GCC		0.592	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080	
DUOX1	53905	broad.mit.edu	37	15	45435473	45435473	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:45435473G>A	ENST00000321429.4	+	17	2315	c.1908G>A	c.(1906-1908)gtG>gtA	p.V636V	DUOX1_ENST00000389037.3_Silent_p.V636V|DUOX1_ENST00000561166.1_Silent_p.V282V	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	636					cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)	p.V636V(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		AGAGCATCGTGTCTGAGAAGC	0.627																																					p.V636V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1908A	15						.						49.0	47.0	48.0					15																	45435473		2198	4298	6496	43222765	SO:0001819	synonymous_variant	53905	exon17			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.1908G>A	15.37:g.45435473G>A			43222765	NM_017434	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Silent	SNP	ENST00000321429.4	37	CCDS32221.1																																																																																				0.627	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434	
SLC12A1	6557	broad.mit.edu	37	15	48566805	48566805	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:48566805A>G	ENST00000558405.1	+	19	2454	c.2440A>G	c.(2440-2442)Aga>Gga	p.R814G	SLC12A1_ENST00000396577.3_Missense_Mutation_p.R814G|SLC12A1_ENST00000380993.3_Missense_Mutation_p.R814G			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	814					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)	p.R814G(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GGTTATAGTCAGAATCAGCCA	0.398																																					p.R814G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2440G	15						.						129.0	112.0	118.0					15																	48566805		2198	4297	6495	46354097	SO:0001583	missense	6557	exon20				CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.2440A>G	15.37:g.48566805A>G	ENSP00000453409:p.Arg814Gly		46354097	NM_001184832	A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	A	18.42	3.619201	0.66787	.	.	ENSG00000074803	ENST00000380993;ENST00000396577	D;D	0.96554	-4.05;-4.05	5.9	3.39	0.38822	.	0.226037	0.41938	D	0.000799	D	0.96639	0.8903	M	0.87038	2.855	0.50632	D	0.999886	B;P	0.41102	0.44;0.738	B;P	0.44811	0.169;0.461	D	0.96375	0.9277	10	0.87932	D	0	.	12.648	0.56746	0.624:0.3759:0.0:0.0	.	814;814	E9PDW4;Q13621	.;S12A1_HUMAN	G	814	ENSP00000370381:R814G;ENSP00000379822:R814G	ENSP00000370381:R814G	R	+	1	2	SLC12A1	46354097	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.252000	0.43196	1.010000	0.39314	0.482000	0.46254	AGA		0.398	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1		
SLC12A1	6557	broad.mit.edu	37	15	48584052	48584052	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:48584052A>C	ENST00000558405.1	+	23	2965	c.2951A>C	c.(2950-2952)aAc>aCc	p.N984T	SLC12A1_ENST00000396577.3_Missense_Mutation_p.N984T|SLC12A1_ENST00000380993.3_Missense_Mutation_p.N984T			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	984					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)	p.N984T(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	ATTAGGCCAAACAAAGAGAGG	0.323																																					p.N984T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2951C	15						.						51.0	49.0	50.0					15																	48584052		2195	4291	6486	46371344	SO:0001583	missense	6557	exon24				CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.2951A>C	15.37:g.48584052A>C	ENSP00000453409:p.Asn984Thr		46371344	NM_001184832	A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	A	10.61	1.399709	0.25291	.	.	ENSG00000074803	ENST00000380993;ENST00000396577	D;D	0.84589	-1.87;-1.87	5.44	4.32	0.51571	.	0.202548	0.51477	D	0.000096	T	0.73337	0.3574	L	0.27053	0.805	0.31669	N	0.644666	B;B	0.25441	0.126;0.036	B;B	0.24701	0.055;0.028	T	0.67818	-0.5572	10	0.22109	T	0.4	.	7.7261	0.28761	0.7684:0.0:0.2316:0.0	.	984;984	E9PDW4;Q13621	.;S12A1_HUMAN	T	984	ENSP00000370381:N984T;ENSP00000379822:N984T	ENSP00000370381:N984T	N	+	2	0	SLC12A1	46371344	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.288000	0.43514	0.891000	0.36235	-0.274000	0.10170	AAC		0.323	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1		
CCPG1	9236	broad.mit.edu	37	15	55652510	55652510	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:55652510A>G	ENST00000310958.6	-	8	1759	c.1461T>C	c.(1459-1461)ggT>ggC	p.G487G	CCPG1_ENST00000425574.3_Intron|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000569205.1_Silent_p.G487G|CCPG1_ENST00000442196.3_Silent_p.G487G	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	487					cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)		p.G487G(1)		autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		CCTTAACTGAACCCAAAAATG	0.378																																					p.G487G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1461C	15						.						269.0	248.0	254.0					15																	55652510		1805	4069	5874	53439802	SO:0001819	synonymous_variant	9236	exon8			AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.1461T>C	15.37:g.55652510A>G			53439802	NM_004748	A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Silent	SNP	ENST00000310958.6	37	CCDS42039.1																																																																																				0.378	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	NM_004748	
CCPG1	9236	broad.mit.edu	37	15	55670510	55670510	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:55670510G>A	ENST00000310958.6	-	4	538	c.240C>T	c.(238-240)agC>agT	p.S80S	CCPG1_ENST00000425574.3_Silent_p.S80S|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000569205.1_Silent_p.S80S|CCPG1_ENST00000442196.3_Silent_p.S80S	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	80	Interaction with MCF2L and SRC. {ECO:0000250}.				cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)		p.S80S(1)		autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		CAATTGTTGAGCTGGTTTCCT	0.313																																					p.S80S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C240T	15						.						90.0	86.0	88.0					15																	55670510		1830	4079	5909	53457802	SO:0001819	synonymous_variant	9236	exon4			AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.240C>T	15.37:g.55670510G>A			53457802	NM_004748	A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Silent	SNP	ENST00000310958.6	37	CCDS42039.1																																																																																				0.313	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	NM_004748	
ZNF280D	54816	broad.mit.edu	37	15	56999302	56999302	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:56999302G>A	ENST00000267807.7	-	3	222	c.6C>T	c.(4-6)ggC>ggT	p.G2G	ZNF280D_ENST00000559237.1_Intron|ZNF280D_ENST00000396245.1_Intron|ZNF280D_ENST00000558320.1_Silent_p.G2G|ZNF280D_ENST00000559000.1_Intron	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	2					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.G2G(1)		endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		AAGGGTTGTCGCCCATCAAGC	0.363																																					p.G2G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6T	15						.						108.0	95.0	100.0					15																	56999302		2192	4292	6484	54786594	SO:0001819	synonymous_variant	54816	exon3			AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 4 (Drosophila)"""	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.6C>T	15.37:g.56999302G>A			54786594	NM_017661	A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Silent	SNP	ENST00000267807.7	37	CCDS32245.1																																																																																				0.363	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	XM_370867	
LIPC	3990	broad.mit.edu	37	15	58840537	58840537	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:58840537C>A	ENST00000356113.6	+	8	1432	c.817C>A	c.(817-819)Cag>Aag	p.Q273K	LIPC_ENST00000414170.3_Missense_Mutation_p.Q273K|LIPC_ENST00000433326.2_Missense_Mutation_p.Q212K|LIPC_ENST00000299022.5_Missense_Mutation_p.Q273K			P11150	LIPC_HUMAN	lipase, hepatic	273					cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)	p.Q273K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		AGCCATCACCCAGACCATAAA	0.552																																					p.Q273K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C817A	15						.						101.0	87.0	92.0					15																	58840537		2192	4292	6484	56627829	SO:0001583	missense	3990	exon6				CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.817C>A	15.37:g.58840537C>A	ENSP00000348425:p.Gln273Lys		56627829	NM_000236	A2RUB4|A8K9B6|O43571|P78529|Q99465	Missense_Mutation	SNP	ENST00000356113.6	37	CCDS10166.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.639763	0.29157	.	.	ENSG00000166035	ENST00000356113;ENST00000414170;ENST00000299022;ENST00000433326	D;D;D;D	0.90444	-2.67;-2.67;-2.67;-2.67	5.18	0.91	0.19337	Lipase, N-terminal (1);	0.183587	0.49305	N	0.000157	D	0.84197	0.5419	L	0.35854	1.095	0.33310	D	0.565933	B;B	0.20368	0.001;0.044	B;B	0.22152	0.033;0.038	T	0.81382	-0.0958	10	0.59425	D	0.04	.	9.8576	0.41094	0.3665:0.3972:0.2363:0.0	.	212;273	E7EUK6;P11150	.;LIPC_HUMAN	K	273;273;273;212	ENSP00000348425:Q273K;ENSP00000395569:Q273K;ENSP00000299022:Q273K;ENSP00000395002:Q212K	ENSP00000299022:Q273K	Q	+	1	0	LIPC	56627829	0.057000	0.20700	0.809000	0.32408	0.532000	0.34746	0.118000	0.15605	0.335000	0.23614	-0.169000	0.13324	CAG		0.552	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1		
RNF111	54778	broad.mit.edu	37	15	59323267	59323267	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:59323267G>A	ENST00000557998.1	+	2	533	c.246G>A	c.(244-246)caG>caA	p.Q82Q	RNF111_ENST00000559209.1_Silent_p.Q82Q|RNF111_ENST00000434298.1_Silent_p.Q82Q|RNF111_ENST00000561186.1_Silent_p.Q82Q|RNF111_ENST00000348370.4_Silent_p.Q82Q	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	82					gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q82Q(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		ATGGTAACCAGCAAGAACAAG	0.408																																					p.Q82Q	NSCLC(72;983 1365 10746 34387 47081)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G246A	15						.						85.0	85.0	85.0					15																	59323267		2192	4292	6484	57110559	SO:0001819	synonymous_variant	54778	exon2			AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.246G>A	15.37:g.59323267G>A			57110559	NM_017610	C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Silent	SNP	ENST00000557998.1	37	CCDS58366.1																																																																																				0.408	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610	
MYO1E	4643	broad.mit.edu	37	15	59470603	59470603	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:59470603C>T	ENST00000288235.4	-	19	2437	c.2038G>A	c.(2038-2040)Gcc>Acc	p.A680T		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	680	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)	p.A680T(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		GACTCGGGGGCTTTGATGAAC	0.612																																					p.A680T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2038A	15						.						103.0	84.0	90.0					15																	59470603		2191	4291	6482	57257895	SO:0001583	missense	4643	exon19			U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.2038G>A	15.37:g.59470603C>T	ENSP00000288235:p.Ala680Thr		57257895	NM_004998	Q14778	Missense_Mutation	SNP	ENST00000288235.4	37	CCDS32254.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101161	0.56183	.	.	ENSG00000157483	ENST00000288235	D	0.87491	-2.26	4.94	4.94	0.65067	Myosin head, motor domain (1);	0.000000	0.85682	D	0.000000	T	0.80909	0.4714	L	0.33792	1.035	0.80722	D	1	B	0.23442	0.085	B	0.25140	0.058	T	0.75539	-0.3282	10	0.08381	T	0.77	.	18.3412	0.90305	0.0:1.0:0.0:0.0	.	680	Q12965	MYO1E_HUMAN	T	680	ENSP00000288235:A680T	ENSP00000288235:A680T	A	-	1	0	MYO1E	57257895	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	5.894000	0.69806	2.552000	0.86080	0.655000	0.94253	GCC		0.612	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998	
TLN2	83660	broad.mit.edu	37	15	62985084	62985084	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:62985084G>A	ENST00000561311.1	+	12	1389	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K	RP11-625H11.2_ENST00000559589.1_RNA|TLN2_ENST00000306829.6_Missense_Mutation_p.E387K			Q9Y4G6	TLN2_HUMAN	talin 2	387	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with PIP5K1C. {ECO:0000250}.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.E387K(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ACAAACCACCGAGGGAGAGCA	0.388																																					p.E387K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1159A	15						.						143.0	128.0	133.0					15																	62985084		2203	4300	6503	60772376	SO:0001583	missense	83660	exon10			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.1159G>A	15.37:g.62985084G>A	ENSP00000453508:p.Glu387Lys		60772376	NM_015059	A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	35	5.461517	0.96240	.	.	ENSG00000171914	ENST00000306829	T	0.73681	-0.77	5.51	5.51	0.81932	FERM domain (1);Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (1);	0.000000	0.85682	D	0.000000	D	0.82300	0.5007	M	0.83312	2.635	0.80722	D	1	D	0.57257	0.979	P	0.48368	0.575	D	0.85547	0.1219	10	0.87932	D	0	-32.3759	19.7828	0.96424	0.0:0.0:1.0:0.0	.	387	Q9Y4G6	TLN2_HUMAN	K	387	ENSP00000303476:E387K	ENSP00000303476:E387K	E	+	1	0	TLN2	60772376	1.000000	0.71417	0.990000	0.47175	0.916000	0.54674	9.715000	0.98748	2.747000	0.94245	0.650000	0.86243	GAG		0.388	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2		
IGDCC3	9543	broad.mit.edu	37	15	65625600	65625600	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:65625600A>C	ENST00000327987.4	-	6	1228	c.977T>G	c.(976-978)gTg>gGg	p.V326G	IGDCC3_ENST00000559231.1_5'UTR	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	326					neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)		p.V326G(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CATACCTTGCACCACCAGCCG	0.652																																					p.V326G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T977G	15						.						77.0	60.0	66.0					15																	65625600		2201	4299	6500	63412653	SO:0001583	missense	9543	exon6			AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.977T>G	15.37:g.65625600A>C	ENSP00000332773:p.Val326Gly		63412653	NM_004884	O95215	Missense_Mutation	SNP	ENST00000327987.4	37	CCDS10205.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.352935	0.82132	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.61274	0.12	5.17	5.17	0.71159	Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.85504	0.5712	H	0.98701	4.305	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.91485	0.5207	10	0.87932	D	0	-26.4052	15.0357	0.71744	1.0:0.0:0.0:0.0	.	326	Q8IVU1	IGDC3_HUMAN	G	326;189	ENSP00000332773:V326G	ENSP00000332773:V326G	V	-	2	0	IGDCC3	63412653	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	9.192000	0.94947	1.960000	0.56953	0.533000	0.62120	GTG		0.652	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884	
DPP8	54878	broad.mit.edu	37	15	65793045	65793045	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:65793045C>T	ENST00000341861.5	-	4	2073	c.493G>A	c.(493-495)Gga>Aga	p.G165R	DPP8_ENST00000321118.7_Missense_Mutation_p.G165R|DPP8_ENST00000358939.4_Missense_Mutation_p.G149R|DPP8_ENST00000300141.6_Missense_Mutation_p.G149R|DPP8_ENST00000559233.1_Missense_Mutation_p.G165R|DPP8_ENST00000321147.6_Missense_Mutation_p.G165R|DPP8_ENST00000339244.5_Missense_Mutation_p.G165R|Y_RNA_ENST00000516408.1_RNA	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	165					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.G149R(3)|p.G149*(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GAAGCAATTCCGACTGTTCCA	0.403																																					p.G149R												.	.	4	Substitution - Missense(3)|Substitution - Nonsense(1)	large_intestine(2)|lung(1)|endometrium(1)	c.G445A	15						.						210.0	199.0	203.0					15																	65793045		2201	4299	6500	63580098	SO:0001583	missense	54878	exon4			AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"""dipeptidyl peptidase VIII"", ""dipeptidyl peptidase IV-related protein-1"", ""prolyl dipeptidase DPP8"""	606819	"""dipeptidylpeptidase 8"""			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.493G>A	15.37:g.65793045C>T	ENSP00000339208:p.Gly165Arg		63580098	NM_017743	Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Missense_Mutation	SNP	ENST00000341861.5	37	CCDS10207.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.862324	0.71949	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000339244;ENST00000395652	T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.47820	0.1466	M	0.72479	2.2	0.33684	D	0.612533	P;B;P;P	0.46457	0.878;0.35;0.878;0.807	P;B;P;B	0.48815	0.591;0.089;0.591;0.387	T	0.60556	-0.7240	10	0.87932	D	0	-5.4525	20.2885	0.98538	0.0:1.0:0.0:0.0	.	149;149;165;165	Q6V1X1-3;Q6V1X1-4;Q6V1X1-2;Q6V1X1	.;.;.;DPP8_HUMAN	R	165;149;149;165;165;165;165	ENSP00000339208:G165R;ENSP00000351817:G149R;ENSP00000300141:G149R;ENSP00000318111:G165R;ENSP00000316373:G165R;ENSP00000341230:G165R;ENSP00000379013:G165R	ENSP00000300141:G149R	G	-	1	0	DPP8	63580098	1.000000	0.71417	0.995000	0.50966	0.917000	0.54804	6.262000	0.72514	2.791000	0.96007	0.650000	0.86243	GGA		0.403	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1	NM_017743	
SLC24A1	9187	broad.mit.edu	37	15	65946296	65946296	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:65946296C>T	ENST00000261892.6	+	10	3466	c.3179C>T	c.(3178-3180)gCg>gTg	p.A1060V	SLC24A1_ENST00000339868.6_Missense_Mutation_p.A1042V|SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000546330.1_Missense_Mutation_p.A1042V|SLC24A1_ENST00000399033.4_Missense_Mutation_p.A1030V|SLC24A1_ENST00000537259.1_Intron|SLC24A1_ENST00000544319.2_Missense_Mutation_p.A946V	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	1060					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.A1060V(1)		breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TCTTCAATTGCGTCATGTAAA	0.383																																					p.C1060C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3180T	15						.						288.0	268.0	274.0					15																	65946296		1952	4142	6094	63733350	SO:0001583	missense	9187	exon10			AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.3179C>T	15.37:g.65946296C>T	ENSP00000261892:p.Ala1060Val		63733350	NM_004727	O43485|O75184|Q17RM9	Missense_Mutation	SNP	ENST00000261892.6	37	CCDS45284.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480885	0.84747	.	.	ENSG00000074621	ENST00000261892;ENST00000339868;ENST00000544319;ENST00000399033;ENST00000546330	T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05	5.51	5.51	0.81932	Sodium/calcium exchanger membrane region (1);	0.115247	0.64402	D	0.000014	T	0.77883	0.4197	M	0.73753	2.245	0.80722	D	1	D;D;D;D	0.76494	0.999;0.985;0.973;0.999	D;D;D;D	0.79108	0.983;0.915;0.919;0.992	T	0.72956	-0.4134	10	0.16896	T	0.51	.	18.3861	0.90466	0.0:1.0:0.0:0.0	.	387;1042;1030;1060	B4DUG1;O60721-2;Q17RM9;O60721	.;.;.;NCKX1_HUMAN	V	1060;1042;946;1030;1042	ENSP00000261892:A1060V;ENSP00000341837:A1042V;ENSP00000445163:A946V;ENSP00000381991:A1030V;ENSP00000439190:A1042V	ENSP00000261892:A1060V	A	+	2	0	SLC24A1	63733350	1.000000	0.71417	0.210000	0.23637	0.748000	0.42578	7.818000	0.86416	2.572000	0.86782	0.585000	0.79938	GCG		0.383	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727	
DENND4A	10260	broad.mit.edu	37	15	66034076	66034076	+	Missense_Mutation	SNP	G	G	A	rs370570206		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:66034076G>A	ENST00000431932.2	-	5	816	c.608C>T	c.(607-609)aCg>aTg	p.T203M	DENND4A_ENST00000443035.3_Missense_Mutation_p.T203M	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	203	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.T203M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TACAGTGTTCGTCTTTGCCAC	0.313																																					p.T203M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C608T	15						.	G	MET/THR,MET/THR	1,3629		0,1,1814	116.0	108.0	110.0		608,608	5.1	1.0	15		110	0,8148		0,0,4074	no	missense,missense	DENND4A	NM_001144823.1,NM_005848.3	81,81	0,1,5888	AA,AG,GG		0.0,0.0275,0.0085	probably-damaging,probably-damaging	203/1907,203/1864	66034076	1,11777	1815	4074	5889	63821130	SO:0001583	missense	10260	exon5			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.608C>T	15.37:g.66034076G>A	ENSP00000396830:p.Thr203Met		63821130	NM_001144823	E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703701	0.88924	2.75E-4	0.0	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.05447	3.44;3.44	5.12	5.12	0.69794	uDENN (3);	0.177376	0.51477	D	0.000100	T	0.21550	0.0519	L	0.51422	1.61	0.80722	D	1	D;D;D	0.89917	0.962;1.0;1.0	P;D;D	0.76575	0.629;0.988;0.981	T	0.00318	-1.1821	10	0.66056	D	0.02	.	18.5536	0.91075	0.0:0.0:1.0:0.0	.	203;203;203	B7Z5Y3;E7EPL3;Q7Z401	.;.;MYCPP_HUMAN	M	203	ENSP00000391167:T203M;ENSP00000396830:T203M	ENSP00000396830:T203M	T	-	2	0	DENND4A	63821130	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.779000	0.99018	2.393000	0.81446	0.491000	0.48974	ACG		0.313	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848	
DIS3L	115752	broad.mit.edu	37	15	66612995	66612995	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:66612995C>T	ENST00000319212.4	+	9	1301	c.1251C>T	c.(1249-1251)atC>atT	p.I417I	DIS3L_ENST00000441424.2_Missense_Mutation_p.R227W|DIS3L_ENST00000319194.5_Silent_p.I334I|RP11-352G18.2_ENST00000565993.1_RNA	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	417					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)	p.I417I(1)|p.I334I(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TAGGAAGAATCGGAGATCTGG	0.448																																					p.I417I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1251T	15						.						174.0	163.0	167.0					15																	66612995		2201	4299	6500	64400049	SO:0001819	synonymous_variant	115752	exon9				CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"""DIS3 mitotic control homolog (S. cerevisiae)-like"""			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.1251C>T	15.37:g.66612995C>T			64400049	NM_001143688	Q8N1N8|Q8WTU9|Q96CM7	Silent	SNP	ENST00000319212.4	37	CCDS45286.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.678180	0.47886	.	.	ENSG00000166938	ENST00000441424	T	0.53857	0.6	5.11	0.126	0.14722	.	.	.	.	.	T	0.22044	0.0531	.	.	.	0.22185	N	0.999303	.	.	.	.	.	.	T	0.26744	-1.0094	6	0.02654	T	1	0.6147	7.0029	0.24820	0.1202:0.5096:0.0:0.3702	.	.	.	.	W	227	ENSP00000388980:R227W	ENSP00000388980:R227W	R	+	1	2	DIS3L	64400049	0.066000	0.20996	0.183000	0.23137	0.783000	0.44284	-0.648000	0.05391	-0.069000	0.12931	-1.267000	0.01435	CGG		0.448	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382792.2	NM_133375	
RPL4	6124	broad.mit.edu	37	15	66795834	66795834	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:66795834C>T	ENST00000307961.6	-	2	129	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K	SNORD16_ENST00000362803.1_RNA|ZWILCH_ENST00000565627.1_5'Flank|SNORD18C_ENST00000362704.1_RNA|ZWILCH_ENST00000307897.5_5'Flank|ZWILCH_ENST00000535141.2_5'Flank|ZWILCH_ENST00000446801.2_5'Flank|SNORD18A_ENST00000363753.1_RNA|RPL4_ENST00000564517.1_5'Flank|SNORD18B_ENST00000365659.1_RNA|RPL4_ENST00000568588.1_5'UTR	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	13					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.E13K(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						TCCCCCTTTTCGGAGTACACC	0.428																																					p.E13K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G37A	15						.						52.0	49.0	50.0					15																	66795834		2201	4299	6500	64582888	SO:0001583	missense	6124	exon2			AB007167	CCDS10218.1	15q22	2011-04-06			ENSG00000174444	ENSG00000174444		"""L ribosomal proteins"""	10353	protein-coding gene	gene with protein product	"""60S ribosomal protein L4"""	180479				9582194, 8268230	Standard	NM_000968		Approved	L4	uc002apv.3	P36578	OTTHUMG00000133193	ENST00000307961.6:c.37G>A	15.37:g.66795834C>T	ENSP00000311430:p.Glu13Lys		64582888	NM_000968	A8K502|P39029|Q4VBR0|Q969Z9	Missense_Mutation	SNP	ENST00000307961.6	37	CCDS10218.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.073662	0.36566	.	.	ENSG00000174444	ENST00000307961;ENST00000449253;ENST00000432669	.	.	.	4.51	4.51	0.55191	Ribosomal protein L4 domain (2);	0.000000	0.85682	D	0.000000	T	0.52837	0.1759	L	0.59436	1.845	0.80722	D	1	B;P	0.49862	0.436;0.929	B;B	0.42798	0.163;0.398	T	0.55309	-0.8161	9	0.06891	T	0.86	-15.8067	17.4321	0.87542	0.0:1.0:0.0:0.0	.	13;13	B4DFI6;P36578	.;RL4_HUMAN	K	13	.	ENSP00000311430:E13K	E	-	1	0	RPL4	64582888	1.000000	0.71417	0.941000	0.38009	0.965000	0.64279	7.541000	0.82084	2.348000	0.79779	0.561000	0.74099	GAA		0.428	RPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256903.2	NM_000968	
IQCH	64799	broad.mit.edu	37	15	67664713	67664713	+	Missense_Mutation	SNP	T	T	C	rs34599707	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:67664713T>C	ENST00000335894.4	+	9	1084	c.1018T>C	c.(1018-1020)Tat>Cat	p.Y340H	IQCH_ENST00000546225.1_Missense_Mutation_p.Y88H|IQCH_ENST00000358767.3_Missense_Mutation_p.Y167H|IQCH_ENST00000360277.4_Missense_Mutation_p.Y92H	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	340								p.Y340H(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		ACTTACCAGATATGACCTTCT	0.448																																					p.Y340H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1018C	15						.						106.0	114.0	111.0					15																	67664713		2201	4299	6500	65451767	SO:0001583	missense	64799	exon9			AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.1018T>C	15.37:g.67664713T>C	ENSP00000336861:p.Tyr340His		65451767	NM_001031715	A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	ENST00000335894.4	37	CCDS32273.1	.	.	.	.	.	.	.	.	.	.	T	0.354	-0.942961	0.02322	.	.	ENSG00000103599	ENST00000358767;ENST00000546225;ENST00000335894;ENST00000360277	T;T;T;T	0.42131	0.99;1.0;0.98;0.99	5.53	-9.34	0.00636	.	2.387880	0.01008	N	0.003789	T	0.26448	0.0646	L	0.34521	1.04	0.09310	N	1	P;P;P;B;P	0.45348	0.856;0.643;0.643;0.007;0.554	B;B;B;B;B	0.43103	0.346;0.206;0.206;0.004;0.408	T	0.48714	-0.9011	10	0.51188	T	0.08	-7.4796	0.6035	0.00748	0.2979:0.1831:0.2916:0.2274	.	167;88;92;340;167	F8WAL8;Q86VS3-2;Q86VS3-4;Q86VS3;Q86VS3-3	.;.;.;IQCH_HUMAN;.	H	167;88;340;92	ENSP00000351617:Y167H;ENSP00000444118:Y88H;ENSP00000336861:Y340H;ENSP00000353419:Y92H	ENSP00000336861:Y340H	Y	+	1	0	IQCH	65451767	0.000000	0.05858	0.000000	0.03702	0.117000	0.20001	-2.288000	0.01150	-1.207000	0.02637	0.482000	0.46254	TAT		0.448	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784	
SKOR1	390598	broad.mit.edu	37	15	68126114	68126114	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:68126114G>A	ENST00000380035.2	+	9	2896	c.2838G>A	c.(2836-2838)aaG>aaA	p.K946K	SKOR1_ENST00000341418.5_Silent_p.K849K|RP11-34F13.3_ENST00000558889.1_RNA|SKOR1_ENST00000554054.1_Silent_p.K918K|SKOR1_ENST00000554240.1_Silent_p.K907K|SKOR1_ENST00000389002.1_Silent_p.K902K|RP11-34F13.2_ENST00000502156.1_lincRNA			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	946					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)	p.K902K(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						TCTCCTGCAAGATGCTGACGC	0.677											OREG0023216	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.K902K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2706A	15						.						89.0	83.0	85.0					15																	68126114		2200	4298	6498	65913168	SO:0001819	synonymous_variant	390598	exon10				CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"""SKI transcriptional corepressors"""	21326	protein-coding gene	gene with protein product	"""transcriptional corepressor CORL1"", ""functional smad suppressing element 15"", ""corepressor for LBX1"""	611273	"""Lbxcor1 homolog (mouse)"""	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.2838G>A	15.37:g.68126114G>A		1104	65913168	NM_001031807	A6NIP4|A6NJY0|Q2VWA5	Silent	SNP	ENST00000380035.2	37																																																																																					0.677	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000410832.1	NM_001031807	
PIAS1	8554	broad.mit.edu	37	15	68466101	68466101	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:68466101G>A	ENST00000249636.6	+	9	1188	c.1040G>A	c.(1039-1041)cGg>cAg	p.R347Q	PIAS1_ENST00000545237.1_Missense_Mutation_p.R349Q	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	347					androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R347Q(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						ATTCCGTGTCGGGCCCTTACA	0.358																																					p.R347Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1040A	15						.						79.0	71.0	73.0					15																	68466101		1813	4083	5896	66253155	SO:0001583	missense	8554	exon9			AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"""Zinc fingers, MIZ-type"""	2752	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 3"""	603566	"""DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"""	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.1040G>A	15.37:g.68466101G>A	ENSP00000249636:p.Arg347Gln		66253155	NM_016166	B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Missense_Mutation	SNP	ENST00000249636.6	37	CCDS45290.1	.	.	.	.	.	.	.	.	.	.	G	36	5.901095	0.97087	.	.	ENSG00000033800	ENST00000249636;ENST00000545237	T;T	0.68181	-0.31;-0.31	6.06	6.06	0.98353	Zinc finger, MIZ-type (2);	0.000000	0.85682	D	0.000000	D	0.88731	0.6516	H	0.96142	3.775	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91065	0.4888	10	0.87932	D	0	-11.1351	20.6282	0.99521	0.0:0.0:1.0:0.0	.	347	O75925	PIAS1_HUMAN	Q	347;349	ENSP00000249636:R347Q;ENSP00000438574:R349Q	ENSP00000249636:R347Q	R	+	2	0	PIAS1	66253155	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.864000	0.99589	2.871000	0.98454	0.655000	0.94253	CGG		0.358	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419642.2		
ITGA11	22801	broad.mit.edu	37	15	68657111	68657111	+	Silent	SNP	G	G	A	rs377061481		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:68657111G>A	ENST00000315757.7	-	4	377	c.291C>T	c.(289-291)tcC>tcT	p.S97S	ITGA11_ENST00000562826.1_5'UTR|ITGA11_ENST00000423218.2_Silent_p.S97S	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	97					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)	p.S97S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						CTTTCCGCTCGGACACGTTGG	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		14605	0.0		0.001	False		,,,				2504	0.0				p.S97S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C291T	15						.	G		1,4213		0,1,2106	83.0	92.0	89.0		291	-10.0	0.6	15		89	12,8428		0,12,4208	no	coding-synonymous	ITGA11	NM_001004439.1		0,13,6314	AA,AG,GG		0.1422,0.0237,0.1027		97/1189	68657111	13,12641	2107	4220	6327	66444165	SO:0001819	synonymous_variant	22801	exon4			AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.291C>T	15.37:g.68657111G>A			66444165	NM_001004439	J3KQM2|Q8WYI8|Q9UKQ1	Silent	SNP	ENST00000315757.7	37	CCDS45291.1																																																																																				0.632	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211	
NOX5	79400	broad.mit.edu	37	15	69328219	69328219	+	Silent	SNP	G	G	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:69328219G>C	ENST00000388866.3	+	7	1172	c.1131G>C	c.(1129-1131)ctG>ctC	p.L377L	NOX5_ENST00000260364.5_Silent_p.L359L|RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000448182.3_Silent_p.L331L|NOX5_ENST00000455873.3_Silent_p.L342L|NOX5_ENST00000530406.2_Silent_p.L349L	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	377	Ferric oxidoreductase.|Poly-Leu.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.L359L(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TGCTGCTGCTGCTCCTCCTCA	0.627																																					p.L349L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1047C	15						.						135.0	109.0	118.0					15																	69328219		2200	4298	6498	67115273	SO:0001819	synonymous_variant	79400	exon7			AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.1131G>C	15.37:g.69328219G>C			67115273	NM_001184779	B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Silent	SNP	ENST00000388866.3	37	CCDS32276.2																																																																																				0.627	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505	
KIF23	9493	broad.mit.edu	37	15	69732652	69732652	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:69732652T>C	ENST00000260363.4	+	17	2010	c.1893T>C	c.(1891-1893)cgT>cgC	p.R631R	KIF23_ENST00000558585.1_Silent_p.R448R|KIF23_ENST00000537891.1_Silent_p.R448R|KIF23_ENST00000559279.1_Silent_p.R631R|KIF23_ENST00000352331.4_Silent_p.R631R|KIF23_ENST00000395392.2_Silent_p.R631R	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	631					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)	p.R631R(1)		central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TGTAGGAGCGTAGAGTGGCAG	0.393																																					p.R631R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1893C	15						.						63.0	64.0	63.0					15																	69732652		2199	4298	6497	67519706	SO:0001819	synonymous_variant	9493	exon17			X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"""Kinesins"""	6392	protein-coding gene	gene with protein product		605064	"""kinesin-like 5 (mitotic kinesin-like protein 1)"""	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.1893T>C	15.37:g.69732652T>C			67519706	NM_004856	Q8WVP0	Silent	SNP	ENST00000260363.4	37	CCDS32278.1																																																																																				0.393	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding			
CT62	196993	broad.mit.edu	37	15	71404516	71404516	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:71404516A>G	ENST00000449977.2	-	3	612	c.106T>C	c.(106-108)Tcc>Ccc	p.S36P	THSD4_ENST00000355327.3_Intron|CT62_ENST00000566432.1_Missense_Mutation_p.S36P	NM_001102658.1	NP_001096128.1	P0C5K7	CT62_HUMAN	cancer/testis antigen 62	36								p.S36P(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)	6						GCAGGCTGGGAACCACAGGAG	0.552																																					p.S36P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T106C	15						.						103.0	118.0	113.0					15																	71404516		2065	4208	6273	69191570	SO:0001583	missense	196993	exon3			BC039359, AL080151	CCDS45295.1	15q23	2011-03-09			ENSG00000225362	ENSG00000225362			27286	protein-coding gene	gene with protein product						15905330	Standard	NM_001102658		Approved		uc002ata.2	P0C5K7		ENST00000449977.2:c.106T>C	15.37:g.71404516A>G	ENSP00000399356:p.Ser36Pro		69191570	NM_001102658		Missense_Mutation	SNP	ENST00000449977.2	37	CCDS45295.1	.	.	.	.	.	.	.	.	.	.	A	8.998	0.979484	0.18812	.	.	ENSG00000225362	ENST00000449977	.	.	.	2.99	-5.99	0.02213	.	.	.	.	.	T	0.15089	0.0364	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.22556	-1.0213	8	0.56958	D	0.05	.	5.5264	0.16960	0.3536:0.4208:0.2256:0.0	.	36	P0C5K7	CT62_HUMAN	P	36	.	ENSP00000399356:S36P	S	-	1	0	CT62	69191570	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.649000	0.05384	-1.642000	0.01521	-0.417000	0.06048	TCC		0.552	CT62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420810.1	NM_001102658	
GRAMD2	196996	broad.mit.edu	37	15	72454683	72454683	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:72454683G>A	ENST00000309731.7	-	11	1005	c.992C>T	c.(991-993)gCg>gTg	p.A331V	GRAMD2_ENST00000564184.1_5'Flank	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	331						integral component of membrane (GO:0016021)		p.A331V(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						AATACGGAACGCCAGGTAGGA	0.483																																					p.A331V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C992T	15						.						87.0	79.0	82.0					15																	72454683		2199	4297	6496	70241737	SO:0001583	missense	196996	exon11			AK002016	CCDS32283.1	15q23	2006-11-29	2005-11-03	2005-11-03					27287	protein-coding gene	gene with protein product						12477932	Standard	NM_001012642		Approved		uc002atq.3	Q8IUY3		ENST00000309731.7:c.992C>T	15.37:g.72454683G>A	ENSP00000311657:p.Ala331Val		70241737	NM_001012642	B3KT68	Missense_Mutation	SNP	ENST00000309731.7	37	CCDS32283.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869103	0.72065	.	.	ENSG00000175318	ENST00000309731	T	0.48201	0.82	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000001	T	0.65322	0.2680	L	0.61218	1.895	0.58432	D	0.999991	D	0.89917	1.0	D	0.85130	0.997	T	0.62774	-0.6783	10	0.35671	T	0.21	.	15.6291	0.76888	0.0:0.0:1.0:0.0	.	331	Q8IUY3	GRAM2_HUMAN	V	331	ENSP00000311657:A331V	ENSP00000311657:A331V	A	-	2	0	GRAMD2	70241737	1.000000	0.71417	0.983000	0.44433	0.416000	0.31233	7.745000	0.85046	2.449000	0.82847	0.563000	0.77884	GCG		0.483	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420040.1	NM_001012642	
PML	5371	broad.mit.edu	37	15	74336601	74336601	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:74336601G>T	ENST00000268058.3	+	9	1997	c.1901G>T	c.(1900-1902)aGc>aTc	p.S634I	PML_ENST00000565898.1_Missense_Mutation_p.S586I	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	634					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S634I(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						AACCGGGAAAGCAAGTTCCGC	0.617			T	"""RARA, PAX5"""	"""APL, ALL"""																																p.S634I			Dom	yes		15	15q22	5371	promyelocytic leukemia		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1901T	15						.						67.0	65.0	66.0					15																	74336601		2198	4297	6495	72123654	SO:0001583	missense	5371	exon9			AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1901G>T	15.37:g.74336601G>T	ENSP00000268058:p.Ser634Ile		72123654	NM_033238	E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	ENST00000268058.3	37	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.909455	0.33721	.	.	ENSG00000140464	ENST00000268058;ENST00000417341;ENST00000418568	T	0.49432	0.78	5.22	-0.57	0.11753	.	0.518986	0.19272	N	0.118365	T	0.36138	0.0956	L	0.27053	0.805	0.18873	N	0.999982	P;P	0.48016	0.868;0.904	B;P	0.48921	0.406;0.595	T	0.23940	-1.0174	10	0.87932	D	0	-16.8668	5.595	0.17321	0.2201:0.4997:0.2802:0.0	.	634;586	P29590;P29590-11	PML_HUMAN;.	I	634;195;634	ENSP00000268058:S634I	ENSP00000268058:S634I	S	+	2	0	PML	72123654	0.475000	0.25894	0.187000	0.23214	0.152000	0.21847	1.675000	0.37555	0.034000	0.15491	0.591000	0.81541	AGC		0.617	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675	
ULK3	25989	broad.mit.edu	37	15	75132920	75132920	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:75132920delG	ENST00000440863.2	-	5	623	c.532delC	c.(532-534)ctcfs	p.L178fs	ULK3_ENST00000568667.1_Frame_Shift_Del_p.L189fs|ULK3_ENST00000569437.1_Frame_Shift_Del_p.L178fs	NM_001099436.1	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3	178	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.L178fs*115(1)		breast(2)	2						GCCATGTAGAGGGGGGAGCCA	0.602																																					p.L178fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.532delC	15						.						23.0	26.0	25.0					15																	75132920		2058	4178	6236	72919973	SO:0001589	frameshift_variant	25989	exon5			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.532delC	15.37:g.75132920delG	ENSP00000400312:p.Leu178fs		72919973	NM_001099436	B2RXK3|B4DRQ7|D3DW68|Q9NPN5|Q9UFS4	Frame_Shift_Del	DEL	ENST00000440863.2	37	CCDS45305.1																																																																																				0.602	ULK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421734.4	NM_015518	
MAN2C1	4123	broad.mit.edu	37	15	75650619	75650619	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:75650619C>T	ENST00000267978.5	-	21	2516	c.2470G>A	c.(2470-2472)Gcc>Acc	p.A824T	MAN2C1_ENST00000569482.1_Missense_Mutation_p.A824T|RP11-817O13.6_ENST00000563660.1_lincRNA|MAN2C1_ENST00000565683.1_Missense_Mutation_p.A841T|MAN2C1_ENST00000563622.1_Missense_Mutation_p.A725T	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	824					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.A824T(1)		central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						TCATAGGTGGCCTGGGAACTC	0.592																																					p.A824T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2470A	15						.						109.0	92.0	98.0					15																	75650619		2197	4294	6491	73437672	SO:0001583	missense	4123	exon21			AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.2470G>A	15.37:g.75650619C>T	ENSP00000267978:p.Ala824Thr		73437672	NM_006715	H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	ENST00000267978.5	37	CCDS32298.1	.	.	.	.	.	.	.	.	.	.	C	36	5.625154	0.96671	.	.	ENSG00000140400	ENST00000267978	T	0.81078	-1.45	5.72	5.72	0.89469	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.90631	0.7062	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.90260	0.4300	10	0.48119	T	0.1	-25.5429	18.8496	0.92222	0.0:1.0:0.0:0.0	.	824;824	Q68EM8;Q9NTJ4	.;MA2C1_HUMAN	T	824	ENSP00000267978:A824T	ENSP00000267978:A824T	A	-	1	0	MAN2C1	73437672	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	5.745000	0.68672	2.703000	0.92315	0.561000	0.74099	GCC		0.592	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1		
UBE2Q2	92912	broad.mit.edu	37	15	76161348	76161348	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:76161348T>C	ENST00000267938.4	+	4	826	c.444T>C	c.(442-444)gcT>gcC	p.A148A	UBE2Q2_ENST00000338677.4_Silent_p.A148A|UBE2Q2_ENST00000569423.1_Silent_p.A113A|UBE2Q2_ENST00000561851.1_Silent_p.A132A	NM_173469.2	NP_775740.1	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q family member 2	148	Glu-rich.				protein K48-linked ubiquitination (GO:0070936)	cytoplasm (GO:0005737)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)	p.A148A(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						aagaGATGGCTGAAGTAGGTA	0.318																																					p.A132A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T396C	15						.						49.0	49.0	49.0					15																	76161348		2196	4292	6488	73948403	SO:0001819	synonymous_variant	92912	exon4			BC017708	CCDS10286.1, CCDS45309.1, CCDS66839.1	15q24.2	2010-05-12	2008-05-02		ENSG00000140367	ENSG00000140367		"""Ubiquitin-conjugating enzymes E2"""	19248	protein-coding gene	gene with protein product		612501	"""ubiquitin-conjugating enzyme E2Q (putative) 2"""			16300736	Standard	NM_001145335		Approved	DKFZp762C143	uc002bbg.2	Q8WVN8	OTTHUMG00000142839	ENST00000267938.4:c.444T>C	15.37:g.76161348T>C			73948403	NM_001145335	B7Z3Q2|H3BRG2|Q8N4G6|Q96J08	Silent	SNP	ENST00000267938.4	37	CCDS10286.1																																																																																				0.318	UBE2Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286475.1	NM_173469	
LINGO1	84894	broad.mit.edu	37	15	77906754	77906754	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:77906754C>T	ENST00000355300.6	-	2	1669	c.1495G>A	c.(1495-1497)Gcg>Acg	p.A499T	LINGO1_ENST00000561030.1_Missense_Mutation_p.A493T	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	499	Ig-like C2-type.				central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A493T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GCGTTGGCCGCGATGCACAGG	0.642																																					p.A499T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1495A	15						.						38.0	41.0	40.0					15																	77906754		2140	4218	6358	75693809	SO:0001583	missense	84894	exon2			AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.1495G>A	15.37:g.77906754C>T	ENSP00000347451:p.Ala499Thr		75693809	NM_032808	D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	ENST00000355300.6	37	CCDS45313.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.289553	0.80914	.	.	ENSG00000169783	ENST00000355300	T	0.76448	-1.02	5.08	5.08	0.68730	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.92734	0.7690	H	0.98612	4.28	0.80722	D	1	D	0.89917	1.0	D	0.66196	0.942	D	0.95709	0.8756	10	0.87932	D	0	.	18.482	0.90815	0.0:1.0:0.0:0.0	.	499	Q96FE5	LIGO1_HUMAN	T	499	ENSP00000347451:A499T	ENSP00000347451:A499T	A	-	1	0	LINGO1	75693809	1.000000	0.71417	0.998000	0.56505	0.926000	0.56050	7.818000	0.86416	2.359000	0.80004	0.462000	0.41574	GCG		0.642	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808	
LINGO1	84894	broad.mit.edu	37	15	77907054	77907054	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:77907054G>A	ENST00000355300.6	-	2	1369	c.1195C>T	c.(1195-1197)Ccc>Tcc	p.P399S	LINGO1_ENST00000561030.1_Missense_Mutation_p.P393S	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	399	LRRCT.				central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P393S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						ACAAACTCGGGCGTGGCGCAC	0.672																																					p.P399S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1195T	15						.						18.0	23.0	21.0					15																	77907054		2080	4201	6281	75694109	SO:0001583	missense	84894	exon2			AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.1195C>T	15.37:g.77907054G>A	ENSP00000347451:p.Pro399Ser		75694109	NM_032808	D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	ENST00000355300.6	37	CCDS45313.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419918	0.62622	.	.	ENSG00000169783	ENST00000355300	T	0.66995	-0.24	4.93	4.93	0.64822	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81317	0.4797	M	0.89214	3.015	0.80722	D	1	D	0.59767	0.986	P	0.54460	0.753	D	0.85878	0.1420	10	0.66056	D	0.02	.	18.1433	0.89647	0.0:0.0:1.0:0.0	.	399	Q96FE5	LIGO1_HUMAN	S	399	ENSP00000347451:P399S	ENSP00000347451:P399S	P	-	1	0	LINGO1	75694109	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.869000	0.99810	2.281000	0.76405	0.462000	0.41574	CCC		0.672	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808	
ACSBG1	23205	broad.mit.edu	37	15	78466780	78466780	+	Missense_Mutation	SNP	C	C	T	rs554607936		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:78466780C>T	ENST00000258873.4	-	12	1994	c.1789G>A	c.(1789-1791)Gcc>Acc	p.A597T	ACSBG1_ENST00000560817.1_Missense_Mutation_p.A355T|ACSBG1_ENST00000541759.1_Missense_Mutation_p.A355T	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	597					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.A597T(1)		endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						ATGAGCATGGCGTTGCTGATG	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		20545	0.001		0.0	False		,,,				2504	0.0				p.A593T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1777A	15						.						117.0	97.0	104.0					15																	78466780		2196	4293	6489	76253835	SO:0001583	missense	23205	exon12			AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.1789G>A	15.37:g.78466780C>T	ENSP00000258873:p.Ala597Thr		76253835	NM_001199377	B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	ENST00000258873.4	37	CCDS10298.1	.	.	.	.	.	.	.	.	.	.	C	34	5.308265	0.95629	.	.	ENSG00000103740	ENST00000258873;ENST00000541759	T;T	0.15256	2.44;2.44	4.9	4.9	0.64082	AMP-dependent synthetase/ligase (1);	0.000000	0.64402	D	0.000001	T	0.49830	0.1580	M	0.88906	2.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.57562	-0.7790	10	0.62326	D	0.03	-33.5839	17.6047	0.88035	0.0:1.0:0.0:0.0	.	593;597	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	T	597;355	ENSP00000258873:A597T;ENSP00000439955:A355T	ENSP00000258873:A597T	A	-	1	0	ACSBG1	76253835	1.000000	0.71417	0.947000	0.38551	0.882000	0.50991	7.535000	0.82014	2.712000	0.92718	0.484000	0.47621	GCC		0.592	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162	
PSMA4	5685	broad.mit.edu	37	15	78841245	78841245	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:78841245C>T	ENST00000044462.7	+	9	895	c.745C>T	c.(745-747)Cgt>Tgt	p.R249C	PSMA4_ENST00000413382.2_Missense_Mutation_p.R178C|PSMA4_ENST00000559082.1_Missense_Mutation_p.R249C|PSMA4_ENST00000560217.1_Missense_Mutation_p.R218C|PSMA4_ENST00000558341.1_3'UTR|PSMA4_ENST00000558281.1_3'UTR|PSMA4_ENST00000558094.1_3'UTR	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 4	249					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)	p.R249C(1)		kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						CAAAGCTGAGCGTGAGAAGAA	0.363																																					p.R178C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C532T	15						.						61.0	61.0	61.0					15																	78841245		2196	4293	6489	76628300	SO:0001583	missense	5685	exon8			BC005361	CCDS10303.1, CCDS45319.1	15q24.1	2004-01-19			ENSG00000041357	ENSG00000041357		"""Proteasome (prosome, macropain) subunits"""	9533	protein-coding gene	gene with protein product		176846				2025653	Standard	NM_002789		Approved	HC9, HsT17706	uc010blf.3	P25789	OTTHUMG00000143859	ENST00000044462.7:c.745C>T	15.37:g.78841245C>T	ENSP00000044462:p.Arg249Cys		76628300	NM_001102668	D3DW86|Q53XP2|Q567Q5|Q8TBD1	Missense_Mutation	SNP	ENST00000044462.7	37	CCDS10303.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.428912	0.62844	.	.	ENSG00000041357	ENST00000413382;ENST00000044462	T;T	0.45276	0.9;1.49	5.96	5.96	0.96718	.	0.351137	0.32852	N	0.005563	T	0.24890	0.0604	N	0.14661	0.345	0.80722	D	1	P	0.34546	0.456	B	0.22601	0.04	T	0.09422	-1.0675	10	0.56958	D	0.05	-7.0285	13.5937	0.61975	0.0:0.9296:0.0:0.0704	.	249	P25789	PSA4_HUMAN	C	178;249	ENSP00000402118:R178C;ENSP00000044462:R249C	ENSP00000044462:R249C	R	+	1	0	PSMA4	76628300	1.000000	0.71417	0.984000	0.44739	0.996000	0.88848	4.508000	0.60441	2.832000	0.97577	0.655000	0.94253	CGT		0.363	PSMA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290107.5	NM_002789	
RASGRF1	5923	broad.mit.edu	37	15	79265674	79265674	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:79265674C>T	ENST00000419573.3	-	26	3905	c.3631G>A	c.(3631-3633)Ggc>Agc	p.G1211S	RASGRF1_ENST00000394745.3_Missense_Mutation_p.G427S|RASGRF1_ENST00000558480.2_Missense_Mutation_p.G1195S	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	1211	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G1211S(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTGACCAGGCCGTCTTCCGTG	0.607																																					p.G1211S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3631A	15						.						173.0	133.0	146.0					15																	79265674		2196	4293	6489	77052729	SO:0001583	missense	5923	exon26			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.3631G>A	15.37:g.79265674C>T	ENSP00000405963:p.Gly1211Ser		77052729	NM_002891	F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.241973	0.58995	.	.	ENSG00000058335	ENST00000419573;ENST00000394741;ENST00000394745	T;T	0.37058	1.22;1.22	4.08	4.08	0.47627	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine-nucleotide exchange factor, conserved site (1);Ras guanine nucleotide exchange factor, domain (1);	0.133772	0.51477	D	0.000090	T	0.38692	0.1050	M	0.71036	2.16	0.51012	D	0.999905	B;B	0.14438	0.01;0.008	B;B	0.19946	0.008;0.027	T	0.28396	-1.0045	10	0.31617	T	0.26	.	14.1711	0.65510	0.0:1.0:0.0:0.0	.	1213;1195	Q13972;F8VPA5	RGRF1_HUMAN;.	S	1211;1195;427	ENSP00000405963:G1211S;ENSP00000378228:G427S	ENSP00000378224:G1195S	G	-	1	0	RASGRF1	77052729	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	3.346000	0.52190	2.250000	0.74265	0.591000	0.81541	GGC		0.607	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891	
ZFAND6	54469	broad.mit.edu	37	15	80423544	80423544	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:80423544G>A	ENST00000261749.6	+	6	809	c.387G>A	c.(385-387)caG>caA	p.Q129Q	ZFAND6_ENST00000559835.1_Silent_p.Q129Q|ZFAND6_ENST00000559157.1_Silent_p.Q117Q|ZFAND6_ENST00000561060.1_Silent_p.Q129Q|ZFAND6_ENST00000559775.1_Silent_p.Q129Q|ZFAND6_ENST00000558688.1_Silent_p.Q129Q|ZFAND6_ENST00000558494.1_Silent_p.Q129Q|ZFAND6_ENST00000558087.1_Silent_p.Q129Q	NM_001242913.1|NM_001242914.1|NM_019006.3	NP_001229842.1|NP_001229843.1|NP_061879.2	Q6FIF0	ZFAN6_HUMAN	zinc finger, AN1-type domain 6	129					apoptotic process (GO:0006915)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|protein targeting to peroxisome (GO:0006625)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|polyubiquitin binding (GO:0031593)|zinc ion binding (GO:0008270)	p.Q129Q(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						ACACAGCACAGCAGCCATCTG	0.408																																					p.Q129Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G387A	15						.						108.0	103.0	105.0					15																	80423544		2203	4300	6503	78210599	SO:0001819	synonymous_variant	54469	exon6			BC005283	CCDS10313.1, CCDS58395.1	15q24.3	2013-01-09	2006-07-07	2006-07-07	ENSG00000086666	ENSG00000086666		"""Zinc fingers, AN1-type domain containing"""	30164	protein-coding gene	gene with protein product	"""protein associated with PRK1"""	610183	"""zinc finger, A20 domain containing 3"""	ZA20D3		11054541	Standard	NM_019006		Approved	ZFAND5B, AWP1	uc002bff.2	Q6FIF0	OTTHUMG00000144169	ENST00000261749.6:c.387G>A	15.37:g.80423544G>A			78210599	NM_019006	D3DW92|D3DW94|O95792|Q9BQF7|Q9GZY3	Silent	SNP	ENST00000261749.6	37	CCDS10313.1																																																																																				0.408	ZFAND6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291368.1	NM_019006	
IL16	3603	broad.mit.edu	37	15	81601070	81601070	+	Silent	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:81601070A>T	ENST00000302987.4	+	18	3930	c.3930A>T	c.(3928-3930)ggA>ggT	p.G1310G	IL16_ENST00000394652.2_Silent_p.G609G|IL16_ENST00000394660.2_Silent_p.G1309G|RP11-761I4.4_ENST00000607019.1_RNA			Q14005	IL16_HUMAN	interleukin 16	1310	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.G1310G(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TGCCTGATGGACCTGTCACGA	0.532																																					p.G1309G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A3927T	15						.						101.0	85.0	91.0					15																	81601070		2203	4300	6503	79388125	SO:0001819	synonymous_variant	3603	exon19			U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.3930A>T	15.37:g.81601070A>T			79388125	NM_001172128	A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Silent	SNP	ENST00000302987.4	37	CCDS42069.1																																																																																				0.532	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217	
TM6SF1	53346	broad.mit.edu	37	15	83784599	83784599	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:83784599T>C	ENST00000322019.9	+	3	473	c.199T>C	c.(199-201)Tat>Cat	p.Y67H	TM6SF1_ENST00000379390.6_Missense_Mutation_p.Y67H|TM6SF1_ENST00000379386.4_Missense_Mutation_p.Y67H|TM6SF1_ENST00000565774.1_Missense_Mutation_p.Y67H|TM6SF1_ENST00000564988.1_3'UTR|RP11-382A20.2_ENST00000565513.1_RNA			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	67						integral component of membrane (GO:0016021)		p.Y67H(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						TGCTCTAGTGTATGCAGTTTT	0.398																																					p.Y67H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T199C	15						.						158.0	133.0	142.0					15																	83784599		2203	4300	6503	81575603	SO:0001583	missense	53346	exon3			AF255922	CCDS10323.1, CCDS45338.1	15q24-q26	2003-04-04			ENSG00000136404	ENSG00000136404			11860	protein-coding gene	gene with protein product		606562				11124529	Standard	NM_001144903		Approved		uc002bjp.3	Q9BZW5	OTTHUMG00000147365	ENST00000322019.9:c.199T>C	15.37:g.83784599T>C	ENSP00000317000:p.Tyr67His		81575603	NM_023003	A8K7T5|H3BU56|Q4U0U5	Missense_Mutation	SNP	ENST00000322019.9	37	CCDS10323.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.200038	0.79015	.	.	ENSG00000136404	ENST00000322019;ENST00000379386;ENST00000379384;ENST00000379390;ENST00000258909	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	4.8	4.8	0.61643	.	0.187657	0.48286	D	0.000195	T	0.46678	0.1405	L	0.51422	1.61	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.66196	0.942;0.935;0.942	T	0.47129	-0.9141	10	0.87932	D	0	-1.068	12.2914	0.54820	0.0:0.0:0.0:1.0	.	67;67;67	E9PD04;Q6P4D7;Q9BZW5	.;.;TM6S1_HUMAN	H	67	ENSP00000317000:Y67H;ENSP00000368696:Y67H;ENSP00000368693:Y67H;ENSP00000368700:Y67H;ENSP00000258909:Y67H	ENSP00000258909:Y67H	Y	+	1	0	TM6SF1	81575603	1.000000	0.71417	0.959000	0.39883	0.994000	0.84299	6.906000	0.75719	1.791000	0.52520	0.459000	0.35465	TAT		0.398	TM6SF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000304009.1	NM_023003	
BNC1	646	broad.mit.edu	37	15	83931739	83931739	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:83931739C>T	ENST00000345382.2	-	4	2349	c.2264G>A	c.(2263-2265)tGt>tAt	p.C755Y	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.C748Y	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	755					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C755Y(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GGTAGCATTACAGCCCTCCAC	0.428																																					p.C755Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2264A	15						.						107.0	94.0	99.0					15																	83931739		2203	4300	6503	81722743	SO:0001583	missense	646	exon4			L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.2264G>A	15.37:g.83931739C>T	ENSP00000307041:p.Cys755Tyr		81722743	NM_001717	Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.206226	0.79127	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.73047	-0.71	5.46	5.46	0.80206	Zinc finger, C2H2-like (1);	0.097447	0.64402	D	0.000001	D	0.85212	0.5645	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.86690	0.1922	10	0.87932	D	0	-16.052	19.3123	0.94195	0.0:1.0:0.0:0.0	.	748;755	F5GY04;Q01954	.;BNC1_HUMAN	Y	755;748	ENSP00000307041:C755Y	ENSP00000307041:C755Y	C	-	2	0	BNC1	81722743	1.000000	0.71417	0.944000	0.38274	0.745000	0.42441	7.755000	0.85180	2.548000	0.85928	0.655000	0.94253	TGT		0.428	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717	
ZNF592	9640	broad.mit.edu	37	15	85341565	85341565	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:85341565T>C	ENST00000560079.2	+	7	2884	c.2596T>C	c.(2596-2598)Tgt>Cgt	p.C866R	ZNF592_ENST00000299927.3_Missense_Mutation_p.C866R	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	866					cell death (GO:0008219)|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.C866R(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TAAGTGCTCCTGTGAAATGGT	0.537																																					p.C866R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2596C	15						.						98.0	97.0	98.0					15																	85341565		2203	4299	6502	83142569	SO:0001583	missense	9640	exon7			D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.2596T>C	15.37:g.85341565T>C	ENSP00000452877:p.Cys866Arg		83142569	NM_014630	Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.031969	0.75504	.	.	ENSG00000166716	ENST00000299927	T	0.59224	0.28	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.78868	0.4351	M	0.87038	2.855	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82790	-0.0283	10	0.87932	D	0	-9.4099	13.9883	0.64350	0.0:0.0:0.0:1.0	.	866	Q92610	ZN592_HUMAN	R	866	ENSP00000299927:C866R	ENSP00000299927:C866R	C	+	1	0	ZNF592	83142569	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.917000	0.87498	2.193000	0.70182	0.460000	0.39030	TGT		0.537	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630	
ALPK3	57538	broad.mit.edu	37	15	85370812	85370812	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:85370812G>A	ENST00000258888.5	+	3	1053	c.886G>A	c.(886-888)Gtc>Atc	p.V296I		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	296	Ig-like 1.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.V296I(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGACAGCGACGTCAGGTTCAC	0.577																																					p.V296I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G886A	15						.						87.0	65.0	72.0					15																	85370812		2203	4299	6502	83171816	SO:0001583	missense	57538	exon3			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.886G>A	15.37:g.85370812G>A	ENSP00000258888:p.Val296Ile		83171816	NM_020778	Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.008048	0.93287	.	.	ENSG00000136383	ENST00000258888	T	0.72282	-0.64	5.66	5.66	0.87406	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.234251	0.35495	N	0.003162	T	0.76227	0.3958	L	0.52573	1.65	0.37510	D	0.917116	D	0.61080	0.989	P	0.54270	0.747	T	0.79160	-0.1918	10	0.49607	T	0.09	-18.3522	17.2403	0.87011	0.0:0.0:1.0:0.0	.	296	Q96L96	ALPK3_HUMAN	I	296	ENSP00000258888:V296I	ENSP00000258888:V296I	V	+	1	0	ALPK3	83171816	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.619000	0.90938	2.650000	0.89964	0.655000	0.94253	GTC		0.577	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778	
AKAP13	11214	broad.mit.edu	37	15	86076919	86076919	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:86076919G>A	ENST00000394518.2	+	4	381	c.286G>A	c.(286-288)Gcg>Acg	p.A96T	AKAP13_ENST00000560302.1_Missense_Mutation_p.A96T|AKAP13_ENST00000361243.2_Missense_Mutation_p.A96T	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	96					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.A96T(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CCAGGATGAAGCGTATGATGC	0.493																																					p.A96T	Melanoma(94;603 1453 3280 32295 32951)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G286A	15						.						157.0	142.0	147.0					15																	86076919		2202	4299	6501	83877923	SO:0001583	missense	11214	exon4			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.286G>A	15.37:g.86076919G>A	ENSP00000378026:p.Ala96Thr		83877923	NM_006738	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629713	0.87660	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.59772	0.24;0.24	5.67	5.67	0.87782	.	.	.	.	.	T	0.68550	0.3013	L	0.45137	1.4	0.80722	D	1	D;D;P	0.69078	0.995;0.997;0.948	P;P;P	0.61132	0.769;0.884;0.547	T	0.69829	-0.5039	9	0.87932	D	0	.	19.115	0.93334	0.0:0.0:1.0:0.0	.	96;96;96	Q12802;Q12802-2;Q12802-5	AKP13_HUMAN;.;.	T	96;96;95;95	ENSP00000354718:A96T;ENSP00000378026:A96T	ENSP00000354718:A96T	A	+	1	0	AKAP13	83877923	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	6.722000	0.74735	2.828000	0.97474	0.655000	0.94253	GCG		0.493	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200	
AKAP13	11214	broad.mit.edu	37	15	86124340	86124340	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:86124340C>T	ENST00000394518.2	+	7	3136	c.3041C>T	c.(3040-3042)gCc>gTc	p.A1014V	AKAP13_ENST00000361243.2_Missense_Mutation_p.A1014V|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1014					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.A1014V(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GGTGGGGCTGCCCAGAGCCTG	0.562																																					p.A1014V	Melanoma(94;603 1453 3280 32295 32951)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3041T	15						.						45.0	47.0	46.0					15																	86124340		2202	4299	6501	83925344	SO:0001583	missense	11214	exon7			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.3041C>T	15.37:g.86124340C>T	ENSP00000378026:p.Ala1014Val		83925344	NM_006738	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	C	7.546	0.661642	0.14645	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.14766	2.48;2.48	5.2	1.7	0.24286	.	.	.	.	.	T	0.09113	0.0225	L	0.32530	0.975	0.24342	N	0.994958	B;B	0.06786	0.0;0.001	B;B	0.09377	0.002;0.004	T	0.37753	-0.9692	9	0.21014	T	0.42	.	5.7302	0.18036	0.0:0.6287:0.1662:0.2051	.	1014;1014	Q12802;Q12802-2	AKP13_HUMAN;.	V	1014;1014;1013;1013	ENSP00000354718:A1014V;ENSP00000378026:A1014V	ENSP00000354718:A1014V	A	+	2	0	AKAP13	83925344	0.081000	0.21417	0.899000	0.35326	0.229000	0.25112	-0.012000	0.12699	0.547000	0.28938	-0.137000	0.14449	GCC		0.562	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200	
KLHL25	64410	broad.mit.edu	37	15	86312824	86312824	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:86312824G>A	ENST00000337975.5	-	2	492	c.218C>T	c.(217-219)gCc>gTc	p.A73V	KLHL25_ENST00000536947.1_Missense_Mutation_p.A73V|KLHL25_ENST00000559131.1_Intron|MIR1276_ENST00000408707.1_RNA	NM_022480.3	NP_071925.2	Q9H0H3	KLH25_HUMAN	kelch-like family member 25	73	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of translational initiation (GO:0006446)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)		p.A73V(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						GCTGAACATGGCCTCAAAATA	0.627																																					p.A73V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C218T	15						.						45.0	49.0	48.0					15																	86312824		2202	4299	6501	84113828	SO:0001583	missense	64410	exon2				CCDS10339.1	15q25.3	2013-02-22	2013-02-22		ENSG00000183655	ENSG00000183655		"""Kelch-like"", ""BTB/POZ domain containing"""	25732	protein-coding gene	gene with protein product	"""ectodermal-neural cortex 2"""		"""kelch-like 25 (Drosophila)"""				Standard	XM_006720635		Approved	FLJ12587, ENC2, ENC-2	uc002bly.3	Q9H0H3	OTTHUMG00000148672	ENST00000337975.5:c.218C>T	15.37:g.86312824G>A	ENSP00000336800:p.Ala73Val		84113828	NM_022480	B2RDH2|B3KRT7	Missense_Mutation	SNP	ENST00000337975.5	37	CCDS10339.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.394093	0.83011	.	.	ENSG00000183655	ENST00000337975;ENST00000538153;ENST00000536947	T;T	0.69306	-0.39;-0.39	4.85	4.85	0.62838	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.126562	0.53938	D	0.000053	D	0.85084	0.5616	M	0.89658	3.05	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88712	0.3223	10	0.87932	D	0	.	16.9559	0.86259	0.0:0.0:1.0:0.0	.	73	Q9H0H3	ENC2_HUMAN	V	73;42;73	ENSP00000336800:A73V;ENSP00000444739:A73V	ENSP00000336800:A73V	A	-	2	0	KLHL25	84113828	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.869000	0.99810	2.247000	0.74100	0.462000	0.41574	GCC		0.627	KLHL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309023.1	NM_022480	
AEN	64782	broad.mit.edu	37	15	89172519	89172519	+	Silent	SNP	G	G	A	rs138959764	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:89172519G>A	ENST00000332810.3	+	3	754	c.603G>A	c.(601-603)gcG>gcA	p.A201A	AEN_ENST00000379231.3_Silent_p.A201A	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	201	Exonuclease.				intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)	p.A201A(1)		NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						ACTTCCAGGCGCTCAAGTATG	0.617													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18097	0.0		0.0	False		,,,				2504	0.0				p.A201A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G603A	15						.	G		4,4396	8.1+/-20.4	0,4,2196	103.0	100.0	101.0		603	3.5	1.0	15	dbSNP_134	101	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	AEN	NM_022767.3		0,5,6494	AA,AG,GG		0.0116,0.0909,0.0385		201/326	89172519	5,12993	2200	4299	6499	86973523	SO:0001819	synonymous_variant	64782	exon3			BC020988	CCDS10344.1	15q26.1	2008-07-15	2008-07-15	2008-07-15	ENSG00000181026	ENSG00000181026			25722	protein-coding gene	gene with protein product		610177	"""interferon stimulated exonuclease gene 20kDa-like 1"""	ISG20L1		18264133, 16171785	Standard	NM_022767		Approved	FLJ12484, FLJ12562	uc002bmt.2	Q8WTP8	OTTHUMG00000148681	ENST00000332810.3:c.603G>A	15.37:g.89172519G>A			86973523	NM_022767	C9J571|Q9BSA5|Q9H9X7	Silent	SNP	ENST00000332810.3	37	CCDS10344.1																																																																																				0.617	AEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309071.1	NM_022767	
ACAN	176	broad.mit.edu	37	15	89382154	89382154	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:89382154G>T	ENST00000561243.1	+	2	331	c.331G>T	c.(331-333)Gcc>Tcc	p.A111S	ACAN_ENST00000439576.2_Missense_Mutation_p.A111S|ACAN_ENST00000559004.1_Missense_Mutation_p.A111S|ACAN_ENST00000558207.1_Missense_Mutation_p.A111S|ACAN_ENST00000352105.7_Missense_Mutation_p.A111S			P16112	PGCA_HUMAN	aggrecan	111	G1-A.|Ig-like V-type.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.A111S(1)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CAACTACCCGGCCATCCCCAG	0.617																																					p.A111S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G331T	15						.						139.0	159.0	153.0					15																	89382154		2143	4261	6404	87183158	SO:0001583	missense	176	exon3			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.331G>T	15.37:g.89382154G>T	ENSP00000453342:p.Ala111Ser		87183158	NM_001135	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.895807	0.52121	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.60672	0.17;0.17	5.36	5.36	0.76844	.	.	.	.	.	T	0.64757	0.2627	L	0.39467	1.215	0.32504	N	0.538462	D;D;B	0.89917	1.0;1.0;0.238	D;D;B	0.72338	0.977;0.977;0.105	T	0.61019	-0.7147	9	0.12766	T	0.61	-28.4187	14.1023	0.65065	0.0:0.1504:0.8496:0.0	.	111;111;111	E7ENV9;E7EX88;Q6PID9	.;.;.	S	111	ENSP00000387356:A111S;ENSP00000341615:A111S	ENSP00000268134:A111S	A	+	1	0	ACAN	87183158	0.998000	0.40836	0.977000	0.42913	0.752000	0.42762	2.670000	0.46833	2.689000	0.91719	0.591000	0.81541	GCC		0.617	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135	
MESP2	145873	broad.mit.edu	37	15	90321304	90321304	+	Silent	SNP	T	T	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:90321304T>A	ENST00000341735.3	+	2	933	c.933T>A	c.(931-933)tcT>tcA	p.S311S	MESP2_ENST00000560219.1_Silent_p.S13S|MESP2_ENST00000558723.1_3'UTR	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	311					mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S311S(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			AGGGTCTCTCTGTGTCTCCAG	0.597																																					p.S311S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T933A	15						.						55.0	57.0	56.0					15																	90321304		1997	4166	6163	88122308	SO:0001819	synonymous_variant	145873	exon2				CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"""Basic helix-loop-helix proteins"""	29659	protein-coding gene	gene with protein product		605195	"""mesoderm posterior 2 homolog (mouse)"""			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.933T>A	15.37:g.90321304T>A			88122308	NM_001039958	Q7RTU2	Silent	SNP	ENST00000341735.3	37	CCDS42078.1																																																																																				0.597	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416421.1	XM_085261	
IDH2	3418	broad.mit.edu	37	15	90627535	90627535	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:90627535A>G	ENST00000330062.3	-	11	1435	c.1322T>C	c.(1321-1323)aTc>aCc	p.I441T	IDH2_ENST00000540499.2_Missense_Mutation_p.I389T|RP11-617F23.1_ENST00000558334.1_RNA|IDH2_ENST00000559482.1_Missense_Mutation_p.I301T|IDH2_ENST00000539790.1_Missense_Mutation_p.I311T	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	441					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.I441T(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			GTTGCTCTTGATGGTGTCGAG	0.642			M		GBM																																p.I441T			Dom	yes		15	15q26.1	3418	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1322C	15						.						142.0	93.0	110.0					15																	90627535		2200	4298	6498	88428539	SO:0001583	missense	3418	exon11				CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.1322T>C	15.37:g.90627535A>G	ENSP00000331897:p.Ile441Thr		88428539	NM_002168	B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	A	19.02	3.746422	0.69418	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.81996	-1.56;-1.56;-1.56	5.24	5.24	0.73138	Isopropylmalate dehydrogenase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.92925	0.7749	H	0.94423	3.535	0.80722	D	1	P;D	0.54772	0.945;0.968	D;D	0.68765	0.944;0.96	D	0.94499	0.7708	10	0.87932	D	0	.	13.0867	0.59144	1.0:0.0:0.0:0.0	.	441;441	Q53GL5;P48735	.;IDHP_HUMAN	T	441;311;389	ENSP00000331897:I441T;ENSP00000438457:I311T;ENSP00000446147:I389T	ENSP00000331897:I441T	I	-	2	0	IDH2	88428539	1.000000	0.71417	1.000000	0.80357	0.599000	0.36880	8.607000	0.90891	1.988000	0.58038	0.459000	0.35465	ATC		0.642	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1		
MAN2A2	4122	broad.mit.edu	37	15	91453742	91453742	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:91453742T>C	ENST00000559717.1	+	11	2048	c.1589T>C	c.(1588-1590)gTt>gCt	p.V530A	MAN2A2_ENST00000360468.3_Missense_Mutation_p.V530A|MAN2A2_ENST00000431652.2_Missense_Mutation_p.V38A|MAN2A2_ENST00000430376.2_5'Flank			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	530					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)	p.V530A(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGGGCAGAGGTTCTGTACAGC	0.642																																					p.V530A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1589C	15						.						39.0	37.0	38.0					15																	91453742		2198	4298	6496	89254746	SO:0001583	missense	4122	exon10			L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.1589T>C	15.37:g.91453742T>C	ENSP00000452948:p.Val530Ala		89254746	NM_006122	A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	T	17.89	3.498803	0.64298	.	.	ENSG00000196547	ENST00000360468;ENST00000431652	D;D	0.82255	-1.59;-1.59	5.38	5.38	0.77491	Glycoside hydrolase, family 38, central domain (2);	0.139101	0.64402	D	0.000005	T	0.76054	0.3934	N	0.21194	0.64	0.80722	D	1	B;B;B;B	0.22080	0.009;0.001;0.064;0.001	B;B;B;B	0.28916	0.027;0.01;0.096;0.01	T	0.73004	-0.4119	10	0.49607	T	0.09	-4.502	15.4362	0.75149	0.0:0.0:0.0:1.0	.	38;158;530;530	B4DEU9;B4DIK4;P49641-1;P49641	.;.;.;MA2A2_HUMAN	A	530;38	ENSP00000353655:V530A;ENSP00000388221:V38A	ENSP00000353655:V530A	V	+	2	0	MAN2A2	89254746	1.000000	0.71417	0.980000	0.43619	0.848000	0.48234	7.739000	0.84976	2.061000	0.61500	0.254000	0.18369	GTT		0.642	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122	
MCTP2	55784	broad.mit.edu	37	15	95001379	95001379	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:95001379A>G	ENST00000357742.4	+	19	2264	c.2264A>G	c.(2263-2265)aAg>aGg	p.K755R	MCTP2_ENST00000451018.3_Missense_Mutation_p.K700R	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	755					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.K755R(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TCTGAGAAAAAGGGGTTGATT	0.294																																					p.K700R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2099G	15						.						90.0	97.0	95.0					15																	95001379		2197	4298	6495	92802383	SO:0001583	missense	55784	exon17			AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.2264A>G	15.37:g.95001379A>G	ENSP00000350377:p.Lys755Arg		92802383	NM_001159643	A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	A	11.77	1.738753	0.30774	.	.	ENSG00000140563	ENST00000451018;ENST00000357742	T;T	0.68903	-0.36;-0.15	4.94	3.79	0.43588	Phosphoribosyltransferase C-terminal (1);	0.249247	0.46145	N	0.000308	T	0.60573	0.2279	L	0.53249	1.67	0.80722	D	1	B;B	0.16166	0.004;0.016	B;B	0.21708	0.009;0.036	T	0.56086	-0.8037	10	0.40728	T	0.16	.	10.9083	0.47092	0.9247:0.0:0.0753:0.0	.	700;755	Q6DN12-2;Q6DN12	.;MCTP2_HUMAN	R	700;755	ENSP00000395109:K700R;ENSP00000350377:K755R	ENSP00000350377:K755R	K	+	2	0	MCTP2	92802383	1.000000	0.71417	0.991000	0.47740	0.716000	0.41182	3.466000	0.53071	0.813000	0.34350	0.454000	0.30748	AAG		0.294	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349	
NR2F2	7026	broad.mit.edu	37	15	96880718	96880718	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:96880718G>A	ENST00000394166.3	+	3	2501	c.1112G>A	c.(1111-1113)cGc>cAc	p.R371H	NR2F2_ENST00000453270.2_Missense_Mutation_p.R218H|NR2F2_ENST00000394171.2_Missense_Mutation_p.R218H|NR2F2_ENST00000421109.2_Missense_Mutation_p.R238H	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	371	Important for dimerization.|Interaction with ZFPM2. {ECO:0000250}.|Ligand-binding. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R371H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			CCTTCCCTCCGCACCGTCTCC	0.522																																					p.R238H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G713A	15						.						162.0	149.0	153.0					15																	96880718		2197	4298	6495	94681722	SO:0001583	missense	7026	exon3			M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"""Nuclear hormone receptors"""	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.1112G>A	15.37:g.96880718G>A	ENSP00000377721:p.Arg371His		94681722	NM_001145155	B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Missense_Mutation	SNP	ENST00000394166.3	37	CCDS10375.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163966	0.78226	.	.	ENSG00000185551	ENST00000421109;ENST00000394166;ENST00000394171;ENST00000453270	T;T;D;D	0.97480	0.19;0.19;-4.4;-4.4	5.44	5.44	0.79542	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98498	0.9499	M	0.81179	2.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99399	1.0927	10	0.87932	D	0	.	19.6189	0.95647	0.0:0.0:1.0:0.0	.	371;238	P24468;Q3KQR7	COT2_HUMAN;.	H	238;371;218;218	ENSP00000401674:R238H;ENSP00000377721:R371H;ENSP00000377726:R218H;ENSP00000389853:R218H	ENSP00000377721:R371H	R	+	2	0	NR2F2	94681722	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.698000	0.92095	0.650000	0.86243	CGC		0.522	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1		
LRRK1	79705	broad.mit.edu	37	15	101608975	101608975	+	Silent	SNP	C	C	T	rs199664807		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:101608975C>T	ENST00000388948.3	+	34	6329	c.5970C>T	c.(5968-5970)ggC>ggT	p.G1990G	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Silent_p.G1987G|LRRK1_ENST00000532145.1_3'UTR	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1									p.G2002G(1)|p.G1990G(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGGGCTGGGGCGCCAGGGAGT	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		18616	0.001		0.0	False		,,,				2504	0.0				p.G1990G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C5970T	15						.	C		0,4090		0,0,2045	76.0	90.0	86.0		5970	0.1	0.9	15		86	1,8341		0,1,4170	no	coding-synonymous	LRRK1	NM_024652.3		0,1,6215	TT,TC,CC		0.012,0.0,0.0080		1990/2016	101608975	1,12431	2045	4171	6216	99426498	SO:0001819	synonymous_variant	79705	exon34			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.5970C>T	15.37:g.101608975C>T			99426498	NM_024652		Silent	SNP	ENST00000388948.3	37	CCDS42086.1																																																																																				0.572	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652	
TARSL2	123283	broad.mit.edu	37	15	102211772	102211772	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr15:102211772C>A	ENST00000335968.3	-	15	2100	c.1884G>T	c.(1882-1884)aaG>aaT	p.K628N		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	628					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)	p.K628N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAATAGCATCCTTGATTTTTA	0.333																																					p.K628N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1884T	15						.						139.0	138.0	138.0					15																	102211772		2203	4300	6503	100029295	SO:0001583	missense	123283	exon15			AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.1884G>T	15.37:g.102211772C>A	ENSP00000338093:p.Lys628Asn		100029295	NM_152334	B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	ENST00000335968.3	37	CCDS10394.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.633695	0.29068	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	.	.	.	5.11	0.277	0.15668	Aminoacyl-tRNA synthetase, class II (1);	0.095410	0.64402	N	0.000001	T	0.53254	0.1785	M	0.63843	1.955	0.46131	D	0.998889	B;B	0.12013	0.005;0.004	B;B	0.15052	0.006;0.012	T	0.50101	-0.8867	9	0.72032	D	0.01	-17.632	6.9943	0.24774	0.0:0.4426:0.0:0.5574	.	628;533	A2RTX5;A2RTX5-2	SYTC2_HUMAN;.	N	628;533;628	.	ENSP00000329291:K533N	K	-	3	2	TARSL2	100029295	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.968000	0.29357	0.165000	0.19558	0.585000	0.79938	AAG		0.333	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3	NM_152334	
ZNF843	283933	broad.mit.edu	37	16	31448155	31448156	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:31448155_31448156insG	ENST00000315678.5	-	2	739_740	c.15_16insC	c.(13-18)ccctttfs	p.F6fs	ZNF843_ENST00000564218.1_Frame_Shift_Ins_p.F6fs	NM_001136509.1	NP_001129981.1	Q8N446	ZN843_HUMAN	zinc finger protein 843	6							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.F6fs*94(1)		breast(2)|large_intestine(1)|prostate(1)	4						GTCAGGGCAAAGGGGAGGCTTC	0.634																																					p.F6fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.16_17insC	16						.																																			31355657	SO:0001589	frameshift_variant	283933	exon2			BC036762	CCDS45471.1	16p11.2	2013-01-11			ENSG00000176723	ENSG00000176723		"""Zinc fingers, C2H2-type"""	28710	protein-coding gene	gene with protein product						12477932	Standard	NM_001136509		Approved	MGC46336	uc010vfm.1	Q8N446		ENST00000315678.5:c.16dupC	16.37:g.31448159_31448159dupG	ENSP00000322899:p.Phe6fs		31355656	NM_001136509	A8K4U8	Frame_Shift_Ins	INS	ENST00000315678.5	37	CCDS45471.1																																																																																				0.634	ZNF843-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432843.1	NM_001136509	
GRIN2A	2903	broad.mit.edu	37	16	10274090	10274090	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:10274090G>A	ENST00000396573.2	-	3	488	c.179C>T	c.(178-180)gCg>gTg	p.A60V	GRIN2A_ENST00000404927.2_Missense_Mutation_p.A60V|GRIN2A_ENST00000330684.3_Missense_Mutation_p.A60V|GRIN2A_ENST00000396575.2_Missense_Mutation_p.A60V|GRIN2A_ENST00000562109.1_Missense_Mutation_p.A60V	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	60					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.A60V(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CAGCCCCGCCGCCTGCTCGGG	0.652																																					p.A60V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C179T	16						.						60.0	65.0	63.0					16																	10274090		2197	4299	6496	10181591	SO:0001583	missense	2903	exon2				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.179C>T	16.37:g.10274090G>A	ENSP00000379818:p.Ala60Val		10181591	NM_001134408	O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.502248	0.26949	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000330684;ENST00000396575	D;D;D;D	0.93247	-3.19;-3.19;-3.19;-3.19	4.54	3.57	0.40892	.	0.336631	0.24907	N	0.034654	D	0.85745	0.5768	L	0.40543	1.245	0.80722	D	1	B;P;B	0.43750	0.259;0.816;0.064	B;B;B	0.17979	0.009;0.02;0.002	T	0.83220	-0.0069	9	.	.	.	.	13.664	0.62384	0.0:0.156:0.844:0.0	.	60;60;60	Q547U9;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	V	60	ENSP00000379818:A60V;ENSP00000385872:A60V;ENSP00000332549:A60V;ENSP00000379820:A60V	.	A	-	2	0	GRIN2A	10181591	1.000000	0.71417	0.732000	0.30844	0.866000	0.49608	4.765000	0.62271	0.903000	0.36546	-0.304000	0.09214	GCG		0.652	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3		
CIITA	4261	broad.mit.edu	37	16	11017125	11017125	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:11017125C>A	ENST00000324288.8	+	19	3491	c.3358C>A	c.(3358-3360)Ctg>Atg	p.L1120M	CIITA_ENST00000381835.5_Missense_Mutation_p.L536M	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	1120					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)	p.L1120M(1)		central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CCAGGAACACCTGCAACAACA	0.622			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																p.L1120M			Dom	yes		16	16p13	4261	"""class II, major histocompatibility complex, transactivator"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3358A	16						.						130.0	121.0	124.0					16																	11017125		2197	4300	6497	10924626	SO:0001583	missense	4261	exon19			U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.3358C>A	16.37:g.11017125C>A	ENSP00000316328:p.Leu1120Met		10924626	NM_000246	A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.933096	0.34096	.	.	ENSG00000179583	ENST00000324288;ENST00000381835	T;T	0.79940	-1.32;1.24	4.61	2.66	0.31614	.	0.000000	0.36932	N	0.002330	D	0.87779	0.6263	M	0.82716	2.605	0.31752	N	0.6344	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.91635	0.998;0.999;0.984	D	0.86167	0.1597	10	0.72032	D	0.01	.	6.8121	0.23811	0.0:0.791:0.0:0.209	.	536;1120;1120	E9PFE0;A0N0N9;P33076	.;.;C2TA_HUMAN	M	1120;536	ENSP00000316328:L1120M;ENSP00000371257:L536M	ENSP00000316328:L1120M	L	+	1	2	CIITA	10924626	0.979000	0.34478	0.996000	0.52242	0.302000	0.27658	1.476000	0.35420	0.561000	0.29186	-0.136000	0.14681	CTG		0.622	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246	
MYH11	4629	broad.mit.edu	37	16	15818755	15818755	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:15818755T>C	ENST00000300036.5	-	29	4062	c.3953A>G	c.(3952-3954)cAg>cGg	p.Q1318R	NDE1_ENST00000342673.5_3'UTR|NDE1_ENST00000396354.1_3'UTR|MYH11_ENST00000396324.3_Missense_Mutation_p.Q1325R|MYH11_ENST00000576790.2_Missense_Mutation_p.Q1318R|MYH11_ENST00000452625.2_Missense_Mutation_p.Q1325R|AF001548.5_ENST00000574212.1_RNA|NDE1_ENST00000396355.1_3'UTR|NDE1_ENST00000571896.1_3'UTR	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1318					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.Q1318R(1)|p.Q1325R(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CTGGGTGTCCTGGAGCTGGGA	0.607			T	CBFB	AML																																p.Q1325R			Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A3974G	16						.						62.0	59.0	60.0					16																	15818755		2197	4300	6497	15726256	SO:0001583	missense	4629	exon30			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.3953A>G	16.37:g.15818755T>C	ENSP00000300036:p.Gln1318Arg		15726256	NM_001040114	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.565156	0.86439	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	5.18	5.18	0.71444	Myosin tail (1);	0.142109	0.48767	D	0.000164	D	0.83732	0.5318	L	0.61387	1.9	0.80722	D	1	P;P;P;P;P	0.37731	0.607;0.607;0.607;0.607;0.607	P;P;P;P;P	0.51974	0.686;0.686;0.686;0.686;0.589	D	0.85401	0.1131	10	0.87932	D	0	.	14.2344	0.65916	0.0:0.0:0.0:1.0	.	1325;1318;1325;1318;1325	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	R	1318;1318;1325;1325;1325	ENSP00000300036:Q1318R;ENSP00000345136:Q1318R;ENSP00000379616:Q1325R;ENSP00000407821:Q1325R	ENSP00000300036:Q1318R	Q	-	2	0	MYH11	15726256	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	1.956000	0.56807	0.533000	0.62120	CAG		0.607	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113	
ABCC1	4363	broad.mit.edu	37	16	16218763	16218763	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:16218763C>G	ENST00000399410.3	+	25	3883	c.3708C>G	c.(3706-3708)taC>taG	p.Y1236*	ABCC1_ENST00000346370.5_Nonsense_Mutation_p.Y1180*|ABCC1_ENST00000351154.5_Nonsense_Mutation_p.Y1177*|ABCC1_ENST00000349029.5_Nonsense_Mutation_p.Y1121*|ABCC1_ENST00000345148.5_Nonsense_Mutation_p.Y1236*|ABCC1_ENST00000399408.2_Nonsense_Mutation_p.Y1246*	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1236	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.Y1236*(1)		breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	CAGTGTCTTACTCATTGCAGG	0.527																																					p.Y1177X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3531G	16						.						96.0	101.0	99.0					16																	16218763		2032	4208	6240	16126264	SO:0001587	stop_gained	4363	exon24			L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.3708C>G	16.37:g.16218763C>G	ENSP00000382342:p.Tyr1236*		16126264	NM_019862	A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Nonsense_Mutation	SNP	ENST00000399410.3	37	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	C	43	10.161488	0.99350	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	.	.	.	5.07	5.07	0.68467	.	0.056679	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.4759	12.9326	0.58294	0.0:0.9196:0.0:0.0804	.	.	.	.	X	1236;1246;1180;1177;1236;1121;920	.	ENSP00000263014:Y1236X	Y	+	3	2	ABCC1	16126264	0.981000	0.34729	1.000000	0.80357	0.882000	0.50991	0.283000	0.18846	2.368000	0.80403	0.655000	0.94253	TAC		0.527	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996	
PDILT	204474	broad.mit.edu	37	16	20370714	20370714	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:20370714A>T	ENST00000302451.4	-	12	1930	c.1682T>A	c.(1681-1683)gTg>gAg	p.V561E		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	561				V -> E (in Ref. 1; BAC05068). {ECO:0000305}.	cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)	p.V561E(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CACCACCACCACCTCCTCAGA	0.488																																					p.V561E												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.T1682A	16						.						193.0	182.0	186.0					16																	20370714		2203	4300	6503	20278215	SO:0001583	missense	204474	exon12				CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1682T>A	16.37:g.20370714A>T	ENSP00000305465:p.Val561Glu		20278215	NM_174924	Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	A	1.220	-0.627070	0.03610	.	.	ENSG00000169340	ENST00000302451	T	0.02552	4.25	3.6	1.29	0.21616	.	1.235140	0.05954	N	0.639327	T	0.01061	0.0035	N	0.01168	-0.975	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46470	-0.9189	10	0.07813	T	0.8	.	2.825	0.05483	0.2626:0.1298:0.0:0.6075	.	561	Q8N807	PDILT_HUMAN	E	561	ENSP00000305465:V561E	ENSP00000305465:V561E	V	-	2	0	PDILT	20278215	0.001000	0.12720	0.036000	0.18154	0.398000	0.30690	0.951000	0.29135	0.241000	0.21283	0.467000	0.42956	GTG		0.488	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924	
DNAH3	55567	broad.mit.edu	37	16	20976175	20976175	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:20976175C>T	ENST00000261383.3	-	53	9030	c.9031G>A	c.(9031-9033)Gct>Act	p.A3011T	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3011					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.A3011T(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACTGTAAAAGCGCCCAGGTAA	0.532																																					p.A3011T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G9031A	16						.						79.0	76.0	77.0					16																	20976175		2201	4300	6501	20883676	SO:0001583	missense	55567	exon53			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.9031G>A	16.37:g.20976175C>T	ENSP00000261383:p.Ala3011Thr		20883676	NM_017539	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830065	0.50845	.	.	ENSG00000158486	ENST00000261383	T	0.74315	-0.83	6.17	6.17	0.99709	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.88243	0.6384	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.86314	0.1688	10	0.41790	T	0.15	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	3011	Q8TD57	DYH3_HUMAN	T	3011	ENSP00000261383:A3011T	ENSP00000261383:A3011T	A	-	1	0	DNAH3	20883676	1.000000	0.71417	0.989000	0.46669	0.033000	0.12548	6.040000	0.70980	2.941000	0.99782	0.655000	0.94253	GCT		0.532	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
DNAH3	55567	broad.mit.edu	37	16	21033406	21033406	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:21033406A>G	ENST00000261383.3	-	40	5662	c.5663T>C	c.(5662-5664)aTg>aCg	p.M1888T	DNAH3_ENST00000415178.1_Intron	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1888	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.M1888T(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GACAAGCCACATGAACATGTC	0.473																																					p.M1888T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T5663C	16						.						86.0	72.0	77.0					16																	21033406		2201	4300	6501	20940907	SO:0001583	missense	55567	exon40			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.5663T>C	16.37:g.21033406A>G	ENSP00000261383:p.Met1888Thr		20940907	NM_017539	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	A	10.10	1.257704	0.22965	.	.	ENSG00000158486	ENST00000261383	T	0.24908	1.83	4.77	2.36	0.29203	.	0.520684	0.21659	N	0.071045	T	0.10937	0.0267	N	0.05534	-0.03	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09707	-1.0662	10	0.41790	T	0.15	.	4.5474	0.12088	0.6257:0.0:0.0831:0.2912	.	1888	Q8TD57	DYH3_HUMAN	T	1888	ENSP00000261383:M1888T	ENSP00000261383:M1888T	M	-	2	0	DNAH3	20940907	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.163000	0.42377	0.678000	0.31325	0.379000	0.24179	ATG		0.473	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
DNAH3	55567	broad.mit.edu	37	16	21073943	21073943	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:21073943G>A	ENST00000261383.3	-	25	3579	c.3580C>T	c.(3580-3582)Cga>Tga	p.R1194*	DNAH3_ENST00000415178.1_Nonsense_Mutation_p.R1194*	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1194	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.R1194*(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGCTGCACTCGGAGAGGGTCC	0.438																																					p.R1194X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C3580T	16						.						77.0	73.0	75.0					16																	21073943		2201	4300	6501	20981444	SO:0001587	stop_gained	55567	exon25			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3580C>T	16.37:g.21073943G>A	ENSP00000261383:p.Arg1194*		20981444	NM_017539	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Nonsense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	44	10.866940	0.99480	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	.	.	.	5.63	5.63	0.86233	.	0.080747	0.51477	D	0.000085	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.526	0.67890	0.0:0.0:0.8535:0.1464	.	.	.	.	X	1194	.	ENSP00000261383:R1194X	R	-	1	2	DNAH3	20981444	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.233000	0.51311	2.648000	0.89879	0.655000	0.94253	CGA		0.438	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
MLST8	64223	broad.mit.edu	37	16	2257075	2257075	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:2257075C>T	ENST00000569417.1	+	5	738	c.384C>T	c.(382-384)aaC>aaT	p.N128N	MLST8_ENST00000565250.1_Silent_p.N128N|MLST8_ENST00000397124.1_Silent_p.N128N|MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000301725.7_Silent_p.N147N|MLST8_ENST00000301724.10_Silent_p.N128N|MLST8_ENST00000564088.1_Silent_p.N128N|AC009065.3_ENST00000517149.1_RNA|MLST8_ENST00000382450.4_Silent_p.N127N	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	128					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of TOR signaling (GO:0032008)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac GTPase activity (GO:0032314)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.N128N(3)		large_intestine(3)|lung(2)|skin(1)	6						TCCAGGTGAACGCACCCATTA	0.667																																					p.N128N												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C384T	16						.						58.0	64.0	62.0					16																	2257075		2011	4148	6159	2197076	SO:0001819	synonymous_variant	64223	exon5				CCDS10462.2, CCDS58409.1	16p13.3	2013-01-09			ENSG00000167965	ENSG00000167965		"""WD repeat domain containing"""	24825	protein-coding gene	gene with protein product	"""G protein beta subunit like"""	612190				12477932	Standard	NM_022372		Approved	Lst8, Pop3, GBL, GbetaL	uc002cpc.3	Q9BVC4	OTTHUMG00000128827	ENST00000569417.1:c.384C>T	16.37:g.2257075C>T			2197076	NM_001199174	B3KMM4|B4DY00|D3DU88|Q5M800|Q86Y18|Q8WUI5|Q9HA66|Q9UJV6	De_novo_Start_OutOfFrame	SNP	ENST00000569417.1	37	CCDS10462.2																																																																																				0.667	MLST8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250763.2	NM_022372	
DNAH3	55567	broad.mit.edu	37	16	21157351	21157351	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:21157351G>T	ENST00000261383.3	-	2	175	c.176C>A	c.(175-177)cCt>cAt	p.P59H	DNAH3_ENST00000415178.1_Missense_Mutation_p.P59H|DNAH3_ENST00000575491.1_5'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	59	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.P59H(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGGCAGAGGAGGCAGCTCTGG	0.532																																					p.P59H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C176A	16						.						96.0	87.0	90.0					16																	21157351		2201	4300	6501	21064852	SO:0001583	missense	55567	exon2			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.176C>A	16.37:g.21157351G>T	ENSP00000261383:p.Pro59His		21064852	NM_017539	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.573677	0.65765	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.33654	1.4;1.73	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000008	T	0.50735	0.1633	L	0.36672	1.1	0.38335	D	0.943917	D;D	0.89917	1.0;1.0	D;D	0.97110	0.972;1.0	T	0.55205	-0.8177	10	0.72032	D	0.01	.	15.0441	0.71813	0.0:0.0:1.0:0.0	.	59;30	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	H	59;59;30	ENSP00000261383:P59H;ENSP00000394245:P59H	ENSP00000261383:P59H	P	-	2	0	DNAH3	21064852	1.000000	0.71417	0.999000	0.59377	0.555000	0.35460	6.085000	0.71343	2.611000	0.88343	0.555000	0.69702	CCT		0.532	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
HS3ST2	9956	broad.mit.edu	37	16	22926427	22926427	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:22926427G>A	ENST00000261374.3	+	2	1082	c.648G>A	c.(646-648)acG>acA	p.T216T		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	216					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)	p.T216T(1)		breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		CTGATTACACGCAGACACTCT	0.592																																					p.T216T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G648A	16						.						128.0	110.0	116.0					16																	22926427		2197	4300	6497	22833928	SO:0001819	synonymous_variant	9956	exon2			AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.648G>A	16.37:g.22926427G>A			22833928	NM_006043	Q52LZ1	Silent	SNP	ENST00000261374.3	37	CCDS10606.1																																																																																				0.592	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	NM_006043	
USP31	57478	broad.mit.edu	37	16	23098489	23098489	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:23098489G>A	ENST00000219689.7	-	9	1545	c.1546C>T	c.(1546-1548)Cgt>Tgt	p.R516C		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0	DUSP 1. {ECO:0000255|PROSITE- ProRule:PRU00613}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.R516C(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CTGACCACACGCAAGCTGAAT	0.393																																					p.R516C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1546T	16						.						57.0	52.0	54.0					16																	23098489		2197	4300	6497	23005990	SO:0001583	missense	57478	exon9			AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.1546C>T	16.37:g.23098489G>A	ENSP00000219689:p.Arg516Cys		23005990	NM_020718	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281888	0.80692	.	.	ENSG00000103404	ENST00000219689	T	0.12361	2.69	5.29	4.33	0.51752	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.069245	0.64402	D	0.000012	T	0.33323	0.0859	L	0.57130	1.785	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.07501	-1.0769	10	0.72032	D	0.01	-10.0162	15.0649	0.71986	0.0:0.1424:0.8576:0.0	.	516	Q70CQ4	UBP31_HUMAN	C	516	ENSP00000219689:R516C	ENSP00000219689:R516C	R	-	1	0	USP31	23005990	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.381000	0.79718	1.218000	0.43458	0.563000	0.77884	CGT		0.393	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718	
SCNN1G	6340	broad.mit.edu	37	16	23197749	23197749	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:23197749C>T	ENST00000300061.2	+	2	300	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	53					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)	p.R53C(1)		NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	CCGTCTGCGCCGCCTCCTCTG	0.612																																					p.R53C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C157T	16						.						62.0	57.0	59.0					16																	23197749		2197	4300	6497	23105250	SO:0001583	missense	6340	exon2			U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10602	protein-coding gene	gene with protein product		600761	"""sodium channel, nonvoltage-gated 1, gamma"", ""sodium channel, non-voltage-gated 1, gamma"""			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.157C>T	16.37:g.23197749C>T	ENSP00000300061:p.Arg53Cys		23105250	NM_001039	P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	ENST00000300061.2	37	CCDS10608.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.647604	0.47258	.	.	ENSG00000166828	ENST00000300061	T	0.72505	-0.66	5.31	4.32	0.51571	.	0.290840	0.32836	N	0.005586	T	0.81216	0.4776	M	0.69823	2.125	0.48901	D	0.999725	D	0.89917	1.0	D	0.70935	0.971	T	0.82876	-0.0240	10	0.72032	D	0.01	-5.2321	12.1515	0.54051	0.3484:0.6516:0.0:0.0	.	53	P51170	SCNNG_HUMAN	C	53	ENSP00000300061:R53C	ENSP00000300061:R53C	R	+	1	0	SCNN1G	23105250	0.636000	0.27207	0.997000	0.53966	0.056000	0.15407	1.036000	0.30228	2.469000	0.83416	0.462000	0.41574	CGC		0.612	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	NM_001039	
SRRM2	23524	broad.mit.edu	37	16	2815614	2815614	+	Silent	SNP	G	G	T	rs187050172		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:2815614G>T	ENST00000301740.8	+	11	5634	c.5085G>T	c.(5083-5085)ccG>ccT	p.P1695P		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1695	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GATCATCTCCGGAGCTAACAA	0.582																																					p.P1695P												.	.	0			c.G5085T	16						.						84.0	70.0	75.0					16																	2815614		2198	4300	6498	2755615	SO:0001819	synonymous_variant	23524	exon11			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.5085G>T	16.37:g.2815614G>T			2755615	NM_016333	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	ENST00000301740.8	37	CCDS32373.1																																																																																				0.582	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1		
ARHGAP17	55114	broad.mit.edu	37	16	24960776	24960776	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:24960776T>C	ENST00000289968.6	-	13	1145	c.1076A>G	c.(1075-1077)gAc>gGc	p.D359G	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.D359G	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	359	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)	p.D359G(2)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		TCTCCACAAGTCTTGAAGTTT	0.318																																					p.D359G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1076G	16						.						115.0	104.0	108.0					16																	24960776		2196	4300	6496	24868277	SO:0001583	missense	55114	exon13			AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.1076A>G	16.37:g.24960776T>C	ENSP00000289968:p.Asp359Gly		24868277	NM_001006634	A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	37	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	T	14.90	2.672431	0.47781	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000455311	T;T	0.18016	2.24;2.24	6.06	6.06	0.98353	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.165623	0.28420	N	0.015402	T	0.09949	0.0244	N	0.03268	-0.37	0.80722	D	1	P;B;P	0.39424	0.673;0.287;0.673	B;B;B	0.43445	0.42;0.085;0.42	T	0.40232	-0.9574	10	0.27082	T	0.32	.	10.5865	0.45286	0.0:0.0:0.1613:0.8387	.	359;359;359	C9IZD3;Q68EM7-2;Q68EM7	.;.;RHG17_HUMAN	G	359	ENSP00000289968:D359G;ENSP00000303130:D359G	ENSP00000289968:D359G	D	-	2	0	ARHGAP17	24868277	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.461000	0.53035	2.324000	0.78689	0.533000	0.62120	GAC		0.318	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054	
SH2B1	25970	broad.mit.edu	37	16	28855388	28855388	+	5'Flank	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:28855388G>A	ENST00000322610.8	+	0	0				TUFM_ENST00000313511.3_Silent_p.A319A|MIR4721_ENST00000577590.1_RNA			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1						blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.A319A(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CTCCGGCCTCGGCCCTCTCCA	0.612																																					p.A319A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C957T	16						.						44.0	50.0	48.0					16																	28855388		2197	4300	6497	28762889	SO:0001631	upstream_gene_variant	7284	exon8			AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2			16.37:g.28855388G>A	Exception_encountered		28762889	NM_003321	A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Silent	SNP	ENST00000322610.8	37	CCDS53996.1																																																																																				0.612	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	NM_015503	
SPNS1	83985	broad.mit.edu	37	16	28995537	28995537	+	Missense_Mutation	SNP	G	G	A	rs201744028	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:28995537G>A	ENST00000311008.11	+	12	1881	c.1504G>A	c.(1504-1506)Gaa>Aaa	p.E502K	LAT_ENST00000454369.2_5'Flank|SPNS1_ENST00000352260.7_Missense_Mutation_p.E428K|LAT_ENST00000354453.4_5'Flank|LAT_ENST00000564277.1_5'Flank|SPNS1_ENST00000323081.8_Missense_Mutation_p.E429K|LAT_ENST00000395456.2_5'Flank|SPNS1_ENST00000565975.1_Missense_Mutation_p.E547K|LAT_ENST00000566177.1_5'Flank|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000395461.3_5'Flank|LAT_ENST00000360872.5_5'Flank|SPNS1_ENST00000334536.8_Missense_Mutation_p.E450K	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	502					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrial inner membrane (GO:0005743)		p.E502K(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						CCTGCTGCACGAAGCAGGGTC	0.657													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17377	0.0		0.0	False		,,,				2504	0.0				p.E428K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1282A	16						.						34.0	35.0	35.0					16																	28995537		2197	4300	6497	28903038	SO:0001583	missense	83985	exon10			BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682			30621	protein-coding gene	gene with protein product		612583				11340170, 12815463	Standard	NM_032038		Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.1504G>A	16.37:g.28995537G>A	ENSP00000309945:p.Glu502Lys		28903038	NM_001142449	B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Missense_Mutation	SNP	ENST00000311008.11	37	CCDS10646.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	14.43	2.533150	0.45073	.	.	ENSG00000169682	ENST00000311008;ENST00000334536;ENST00000352260;ENST00000323081	T;T;T;T	0.33216	1.86;1.42;1.43;1.88	4.45	4.45	0.53987	.	0.437392	0.21310	N	0.076653	T	0.18087	0.0434	N	0.24115	0.695	0.09310	N	1	B;B;B	0.31680	0.086;0.01;0.335	B;B;B	0.24155	0.051;0.005;0.039	T	0.10222	-1.0639	10	0.10111	T	0.7	.	14.6389	0.68708	0.0:0.0:1.0:0.0	.	428;502;450	Q9H2V7-3;Q9H2V7;Q9H2V7-2	.;SPNS1_HUMAN;.	K	502;450;428;429	ENSP00000309945:E502K;ENSP00000335494:E450K;ENSP00000306050:E428K;ENSP00000318228:E429K	ENSP00000309945:E502K	E	+	1	0	SPNS1	28903038	0.994000	0.37717	0.115000	0.21578	0.042000	0.13812	5.123000	0.64703	2.311000	0.77944	0.655000	0.94253	GAA		0.657	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254690.2	NM_032038	
MMP25	64386	broad.mit.edu	37	16	3107316	3107316	+	Missense_Mutation	SNP	G	G	A	rs140235913		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:3107316G>A	ENST00000336577.4	+	6	1081	c.844G>A	c.(844-846)Gcg>Acg	p.A282T	RP11-473M20.7_ENST00000572222.1_RNA|RP11-473M20.7_ENST00000572574.1_RNA|RP11-473M20.7_ENST00000597579.1_RNA|RP11-473M20.7_ENST00000570949.1_RNA|RP11-473M20.7_ENST00000572427.1_RNA|RP11-473M20.7_ENST00000573953.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA|RP11-473M20.7_ENST00000573878.1_RNA|RP11-473M20.7_ENST00000572930.1_RNA|RP11-473M20.7_ENST00000573130.1_RNA	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	292					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A282T(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14					Marimastat(DB00786)	CACAGGGAAGGCGCCCCAAAC	0.657																																					p.A282T	NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G844A	16						.	G	THR/ALA	0,4394		0,0,2197	96.0	101.0	99.0		844	2.2	0.0	16	dbSNP_134	99	1,8599		0,1,4299	no	missense	MMP25	NM_022468.4	58	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	benign	282/563	3107316	1,12993	2197	4300	6497	3047317	SO:0001583	missense	64386	exon6			AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516			14246	protein-coding gene	gene with protein product		608482	"""matrix metalloproteinase 25"", ""matrix metallopeptidase-like 1"""	MMPL1, MMP20		10628838, 10706098	Standard	NM_022468		Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.844G>A	16.37:g.3107316G>A	ENSP00000337816:p.Ala282Thr		3047317	NM_022468	Q96F04|Q96TE2	Missense_Mutation	SNP	ENST00000336577.4	37	CCDS10492.1	.	.	.	.	.	.	.	.	.	.	g	6.552	0.470202	0.12461	0.0	1.16E-4	ENSG00000008516	ENST00000336577	T	0.16897	2.31	4.3	2.22	0.28083	Metallopeptidase, catalytic domain (1);	31.794500	0.00447	N	0.000094	T	0.15219	0.0367	N	0.24115	0.695	0.09310	N	1	B	0.16166	0.016	B	0.14578	0.011	T	0.31916	-0.9926	10	0.33141	T	0.24	.	10.6997	0.45920	0.0:0.3767:0.6233:0.0	.	282	Q9NPA2	MMP25_HUMAN	T	282	ENSP00000337816:A282T	ENSP00000337816:A282T	A	+	1	0	MMP25	3047317	0.012000	0.17670	0.003000	0.11579	0.009000	0.06853	1.326000	0.33735	0.343000	0.23821	-0.512000	0.04463	GCG		0.657	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437116.1	NM_022468	
SEZ6L2	26470	broad.mit.edu	37	16	29908193	29908193	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:29908193G>A	ENST00000308713.5	-	3	988	c.461C>T	c.(460-462)aCg>aTg	p.T154M	SEZ6L2_ENST00000562159.1_5'UTR|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.T154M|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.T84M|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.T110M	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	154	Thr-rich.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.T154M(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GATGGTGGTCGTCGTCTCCTC	0.672																																					p.T154M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C461T	16						.						146.0	94.0	111.0					16																	29908193		2197	4300	6497	29815694	SO:0001583	missense	26470	exon3			AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.461C>T	16.37:g.29908193G>A	ENSP00000312550:p.Thr154Met		29815694	NM_001114100	B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	CCDS10659.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829447	0.71258	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	T;T;T;T	0.45668	1.4;0.89;0.89;0.89	5.35	5.35	0.76521	.	0.517243	0.17842	N	0.160167	T	0.53270	0.1786	N	0.24115	0.695	0.54753	D	0.999988	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.83275	0.996;0.991;0.991;0.996;0.991;0.996	T	0.56691	-0.7937	10	0.62326	D	0.03	.	17.8253	0.88664	0.0:0.0:1.0:0.0	.	110;154;154;84;154;84	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	M	84;154;154;110	ENSP00000310206:T84M;ENSP00000312550:T154M;ENSP00000319215:T154M;ENSP00000439412:T110M	ENSP00000312550:T154M	T	-	2	0	SEZ6L2	29815694	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.497000	0.81536	2.518000	0.84900	0.555000	0.69702	ACG		0.672	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410	
BCKDK	10295	broad.mit.edu	37	16	31123543	31123543	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:31123543G>A	ENST00000394951.1	+	13	1819	c.1196G>A	c.(1195-1197)cGg>cAg	p.R399Q	BCKDK_ENST00000287507.3_3'UTR|AC135050.1_ENST00000517000.2_RNA|BCKDK_ENST00000219794.6_Missense_Mutation_p.R399Q|BCKDK_ENST00000394950.3_3'UTR			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	399	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				branched-chain amino acid catabolic process (GO:0009083)|cellular amino acid catabolic process (GO:0009063)|phosphorylation (GO:0016310)|protein phosphorylation (GO:0006468)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrion (GO:0005739)	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity (GO:0047323)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)	p.R399Q(1)		breast(1)|stomach(1)	2						GTCTACCTGCGGCTCCGCCAC	0.662																																					p.R399Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1196A	16						.						51.0	51.0	51.0					16																	31123543		2197	4300	6497	31031044	SO:0001583	missense	10295	exon12			AF026548	CCDS10705.1, CCDS45467.1, CCDS61917.1	16p11.2	2008-05-14			ENSG00000103507	ENSG00000103507			16902	protein-coding gene	gene with protein product		614901				1889817	Standard	NM_005881		Approved		uc002eaw.5	O14874	OTTHUMG00000047356	ENST00000394951.1:c.1196G>A	16.37:g.31123543G>A	ENSP00000378405:p.Arg399Gln		31031044	NM_005881	A8MY43|Q6FGL4|Q96G95|Q96IN5	Missense_Mutation	SNP	ENST00000394951.1	37	CCDS10705.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717152	0.89205	.	.	ENSG00000103507	ENST00000394951;ENST00000219794	T;T	0.56941	0.43;0.43	5.66	5.66	0.87406	Signal transduction histidine kinase-related protein, C-terminal (1);Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.000000	0.85682	D	0.000000	T	0.64951	0.2645	L	0.47016	1.485	0.80722	D	1	D	0.76494	0.999	D	0.63703	0.917	T	0.58634	-0.7602	10	0.29301	T	0.29	-4.3827	18.5059	0.90897	0.0:0.0:1.0:0.0	.	399	O14874	BCKD_HUMAN	Q	399	ENSP00000378405:R399Q;ENSP00000219794:R399Q	ENSP00000219794:R399Q	R	+	2	0	BCKDK	31031044	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	9.016000	0.93645	2.673000	0.90976	0.591000	0.81541	CGG		0.662	BCKDK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108514.1	NM_005881	
ITGAM	3684	broad.mit.edu	37	16	31336066	31336066	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:31336066T>C	ENST00000287497.8	+	18	2327	c.2252T>C	c.(2251-2253)gTg>gCg	p.V751A	ITGAM_ENST00000544665.3_Missense_Mutation_p.V752A			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	751					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)	p.V751A(1)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CTCCGGCCAGTGCTGGCGGAG	0.572																																					p.V751A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2252C	16						.						56.0	56.0	56.0					16																	31336066		1950	4141	6091	31243567	SO:0001583	missense	3684	exon18			J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.2252T>C	16.37:g.31336066T>C	ENSP00000287497:p.Val751Ala		31243567	NM_000632	Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	T	15.81	2.943553	0.53079	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.55930	0.49;0.49	4.91	4.91	0.64330	Integrin alpha-2 (1);	.	.	.	.	T	0.71896	0.3394	M	0.84433	2.695	0.29285	N	0.869781	D;D;D	0.53619	0.961;0.961;0.961	P;P;P	0.61477	0.889;0.852;0.852	T	0.70081	-0.4970	9	0.56958	D	0.05	.	12.16	0.54099	0.0:0.0:0.0:1.0	.	157;751;751	B3KXM6;Q4VAK1;P11215	.;.;ITAM_HUMAN	A	752;751	ENSP00000441691:V752A;ENSP00000287497:V751A	ENSP00000287497:V751A	V	+	2	0	ITGAM	31243567	1.000000	0.71417	0.979000	0.43373	0.009000	0.06853	4.048000	0.57390	2.056000	0.61249	0.460000	0.39030	GTG		0.572	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632	
C16orf58	64755	broad.mit.edu	37	16	31510649	31510649	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:31510649T>A	ENST00000327237.2	-	5	613	c.574A>T	c.(574-576)Acc>Tcc	p.T192S	C16orf58_ENST00000570164.1_Missense_Mutation_p.T192S|C16orf58_ENST00000430477.2_Missense_Mutation_p.T50S|C16orf58_ENST00000567994.1_Missense_Mutation_p.T147S			Q96GQ5	RUS1_HUMAN	chromosome 16 open reading frame 58	192						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.T192S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						GTGGAGACGGTCATGGTGAAA	0.527																																					p.T192S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A574T	16						.						80.0	76.0	78.0					16																	31510649		2197	4300	6497	31418150	SO:0001583	missense	64755	exon5			AK023930	CCDS10715.1	16p11.2	2013-03-04			ENSG00000140688	ENSG00000140688			25848	protein-coding gene	gene with protein product							Standard	NM_022744		Approved	FLJ13868	uc002eci.3	Q96GQ5	OTTHUMG00000132466	ENST00000327237.2:c.574A>T	16.37:g.31510649T>A	ENSP00000317579:p.Thr192Ser		31418150	NM_022744	Q53GL8|Q8NAJ4|Q9BVY3|Q9H887	Missense_Mutation	SNP	ENST00000327237.2	37	CCDS10715.1	.	.	.	.	.	.	.	.	.	.	T	16.11	3.029056	0.54790	.	.	ENSG00000140688	ENST00000327237;ENST00000452223;ENST00000430477	T;T	0.42513	0.97;0.97	5.92	5.92	0.95590	.	0.304548	0.39834	N	0.001254	T	0.38639	0.1048	L	0.34521	1.04	0.25911	N	0.983231	B;P	0.35527	0.298;0.507	B;B	0.40602	0.334;0.334	T	0.38134	-0.9675	10	0.42905	T	0.14	-35.3249	14.3198	0.66479	0.0:0.0:0.0:1.0	.	50;192	B4DJP2;Q96GQ5	.;CP058_HUMAN	S	192;146;50	ENSP00000317579:T192S;ENSP00000398074:T50S	ENSP00000317579:T192S	T	-	1	0	C16orf58	31418150	0.960000	0.32886	0.044000	0.18714	0.625000	0.37756	4.946000	0.63576	2.254000	0.74563	0.528000	0.53228	ACC		0.527	C16orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255629.2	NM_022744	
SLX4	84464	broad.mit.edu	37	16	3639300	3639300	+	Missense_Mutation	SNP	C	C	A	rs371090786		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:3639300C>A	ENST00000294008.3	-	12	4979	c.4339G>T	c.(4339-4341)Ggc>Tgc	p.G1447C		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1447	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)	p.G1447C(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CTCAGGGGGCCGGTCCGCTCC	0.662								Direct reversal of damage																													p.G1447C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4339T	16						.						52.0	65.0	61.0					16																	3639300		2194	4296	6490	3579301	SO:0001583	missense	84464	exon12			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.4339G>T	16.37:g.3639300C>A	ENSP00000294008:p.Gly1447Cys		3579301	NM_032444	Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	17.99	3.524046	0.64747	.	.	ENSG00000188827	ENST00000294008	T	0.01685	4.69	5.77	5.77	0.91146	.	0.170731	0.42172	D	0.000741	T	0.10508	0.0257	M	0.69823	2.125	0.50039	D	0.999847	D	0.89917	1.0	D	0.87578	0.998	T	0.00049	-1.2201	10	0.66056	D	0.02	.	17.502	0.87734	0.0:1.0:0.0:0.0	.	1447	Q8IY92	SLX4_HUMAN	C	1447	ENSP00000294008:G1447C	ENSP00000294008:G1447C	G	-	1	0	SLX4	3579301	0.893000	0.30496	0.849000	0.33467	0.424000	0.31475	2.479000	0.45197	2.884000	0.98904	0.655000	0.94253	GGC		0.662	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444	
SLX4	84464	broad.mit.edu	37	16	3656682	3656682	+	Missense_Mutation	SNP	C	C	A	rs201769293		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:3656682C>A	ENST00000294008.3	-	3	1193	c.553G>T	c.(553-555)Gac>Tac	p.D185Y		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	185	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)	p.D185Y(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GGCTGGGAGTCGCTGTTGGGC	0.488								Direct reversal of damage																													p.D185Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G553T	16						.						129.0	125.0	126.0					16																	3656682		2197	4300	6497	3596683	SO:0001583	missense	84464	exon3			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.553G>T	16.37:g.3656682C>A	ENSP00000294008:p.Asp185Tyr		3596683	NM_032444	Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	15.18	2.758461	0.49468	.	.	ENSG00000188827	ENST00000294008	T	0.01272	5.07	5.03	-8.07	0.01098	.	1.301390	0.05020	N	0.472509	T	0.01156	0.0038	L	0.29908	0.895	0.09310	N	1	P	0.45768	0.866	B	0.43889	0.435	T	0.43829	-0.9367	10	0.29301	T	0.29	.	2.5913	0.04843	0.0929:0.2775:0.2911:0.3384	.	185	Q8IY92	SLX4_HUMAN	Y	185	ENSP00000294008:D185Y	ENSP00000294008:D185Y	D	-	1	0	SLX4	3596683	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	-0.426000	0.07008	-0.939000	0.03709	-0.291000	0.09656	GAC		0.488	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444	
CREBBP	1387	broad.mit.edu	37	16	3779829	3779829	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:3779829T>C	ENST00000262367.5	-	31	6028	c.5219A>G	c.(5218-5220)cAt>cGt	p.H1740R	CREBBP_ENST00000382070.3_Missense_Mutation_p.H1702R	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1740	Interaction with TRERF1.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.H1740R(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CACCATCTTATGGGCATGGCT	0.607			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																														p.H1740R			Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5219G	16						.						63.0	61.0	62.0					16																	3779829		2195	4297	6492	3719830	SO:0001583	missense	1387	exon31			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.5219A>G	16.37:g.3779829T>C	ENSP00000262367:p.His1740Arg		3719830	NM_004380	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	t	16.03	3.007675	0.54361	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.95035	-3.59;-3.59	5.35	5.35	0.76521	Zinc finger, ZZ-type (3);	0.000000	0.85682	D	0.000000	D	0.98292	0.9434	H	0.97564	4.03	0.80722	D	1	D;D	0.62365	0.991;0.991	D;D	0.78314	0.991;0.991	D	0.99716	1.1008	10	0.87932	D	0	-24.4873	15.3405	0.74293	0.0:0.0:0.0:1.0	.	1770;1740	Q4LE28;Q92793	.;CBP_HUMAN	R	1740;1770;1702;275	ENSP00000262367:H1740R;ENSP00000371502:H1702R	ENSP00000262367:H1740R	H	-	2	0	CREBBP	3719830	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.975000	0.88055	2.034000	0.60081	0.482000	0.46254	CAT		0.607	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380	
CREBBP	1387	broad.mit.edu	37	16	3781278	3781278	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:3781278T>C	ENST00000262367.5	-	30	5896	c.5087A>G	c.(5086-5088)cAc>cGc	p.H1696R	CREBBP_ENST00000382070.3_Missense_Mutation_p.H1658R	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1696	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with TRERF1.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.H1696R(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCCCTGGGTGTGCAGCTCCAC	0.657			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																														p.H1696R			Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5087G	16						.						89.0	65.0	74.0					16																	3781278		2197	4300	6497	3721279	SO:0001583	missense	1387	exon30			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.5087A>G	16.37:g.3781278T>C	ENSP00000262367:p.His1696Arg		3721279	NM_004380	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	t	16.37	3.105371	0.56291	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.87334	-2.24;-2.15	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.95033	0.8392	M	0.92604	3.325	0.80722	D	1	D;D	0.76494	0.999;0.993	D;D	0.78314	0.991;0.977	D	0.96032	0.9017	10	0.87932	D	0	-27.9152	16.2813	0.82687	0.0:0.0:0.0:1.0	.	1726;1696	Q4LE28;Q92793	.;CBP_HUMAN	R	1696;1726;1658;231	ENSP00000262367:H1696R;ENSP00000371502:H1658R	ENSP00000262367:H1696R	H	-	2	0	CREBBP	3721279	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.244000	0.73946	0.533000	0.62120	CAC		0.657	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380	
ZNF267	10308	broad.mit.edu	37	16	31926811	31926811	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:31926811G>A	ENST00000300870.10	+	4	1450	c.1241G>A	c.(1240-1242)gGc>gAc	p.G414D		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	414					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G414D(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AAAGAATGTGGCAAAGCCTTT	0.353																																					p.G414D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1241A	16						.						44.0	49.0	47.0					16																	31926811		2197	4298	6495	31834312	SO:0001583	missense	10308	exon4			X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.1241G>A	16.37:g.31926811G>A	ENSP00000300870:p.Gly414Asp		31834312	NM_003414	A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	37	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	17.37	3.373433	0.61624	.	.	ENSG00000185947	ENST00000300870	T	0.20881	2.04	0.458	0.458	0.16670	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16085	0.0387	L	0.52905	1.665	0.80722	D	1	P	0.34522	0.455	B	0.27380	0.079	T	0.08597	-1.0714	9	0.66056	D	0.02	.	6.6931	0.23183	1.0E-4:0.0:0.9999:0.0	.	414	Q14586	ZN267_HUMAN	D	414	ENSP00000300870:G414D	ENSP00000300870:G414D	G	+	2	0	ZNF267	31834312	0.581000	0.26741	0.847000	0.33407	0.838000	0.47535	0.590000	0.23954	0.482000	0.27582	0.484000	0.47621	GGC		0.353	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414	
NETO2	81831	broad.mit.edu	37	16	47162459	47162459	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:47162459C>T	ENST00000562435.1	-	4	642	c.258G>A	c.(256-258)ttG>ttA	p.L86L	NETO2_ENST00000303155.5_Silent_p.L86L	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	86	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				regulation of kainate selective glutamate receptor activity (GO:2000312)	kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)		p.L86L(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				CATCAAAGGTCAACTCTATTC	0.353										HNSCC(25;0.065)																											p.L86L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G258A	16						.						148.0	155.0	153.0					16																	47162459		2202	4300	6502	45719960	SO:0001819	synonymous_variant	81831	exon4			AK001292	CCDS10727.1, CCDS58460.1	16q11.2	2008-08-04			ENSG00000171208	ENSG00000171208			14644	protein-coding gene	gene with protein product		607974				11943477	Standard	NM_018092		Approved	FLJ10430, NEOT2	uc002eer.2	Q8NC67	OTTHUMG00000133101	ENST00000562435.1:c.258G>A	16.37:g.47162459C>T			45719960	NM_018092	J3KNF1|Q7Z381|Q8ND51|Q96SP4|Q9NVY8	Silent	SNP	ENST00000562435.1	37	CCDS10727.1																																																																																				0.353	NETO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256766.2	NM_018092	
RHBDF1	64285	broad.mit.edu	37	16	108713	108713	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:108713C>T	ENST00000262316.6	-	18	2336	c.2194G>A	c.(2194-2196)Gtg>Atg	p.V732M		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	732					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)		p.V732M(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				AAGAGCTCCACGAAGAGGCAG	0.657																																					p.V732M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2194A	16						.						23.0	27.0	26.0					16																	108713		2203	4299	6502	48713	SO:0001583	missense	64285	exon18			BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"""chromosome 16 open reading frame 8"", ""rhomboid family 1 (Drosophila)"""	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.2194G>A	16.37:g.108713C>T	ENSP00000262316:p.Val732Met		48713	NM_022450	Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Missense_Mutation	SNP	ENST00000262316.6	37	CCDS32344.1	.	.	.	.	.	.	.	.	.	.	.	19.92	3.915776	0.73098	.	.	ENSG00000007384	ENST00000262316	T	0.15603	2.41	5.16	4.21	0.49690	Peptidase S54, rhomboid domain (1);	0.000000	0.85682	D	0.000000	T	0.46678	0.1405	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.56703	-0.7935	10	0.87932	D	0	-22.3084	13.0368	0.58877	0.0:0.9221:0.0:0.0779	.	732	Q96CC6	RHDF1_HUMAN	M	732	ENSP00000262316:V732M	ENSP00000262316:V732M	V	-	1	0	RHBDF1	48713	1.000000	0.71417	0.996000	0.52242	0.937000	0.57800	7.652000	0.83633	1.310000	0.45006	-0.136000	0.14681	GTG		0.657	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	NM_022450	
ZNF423	23090	broad.mit.edu	37	16	49671228	49671228	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:49671228A>G	ENST00000561648.1	-	4	1888	c.1835T>C	c.(1834-1836)gTg>gCg	p.V612A	ZNF423_ENST00000535559.1_Missense_Mutation_p.V495A|ZNF423_ENST00000562520.1_Missense_Mutation_p.V552A|ZNF423_ENST00000562871.1_Missense_Mutation_p.V552A|ZNF423_ENST00000567169.1_Missense_Mutation_p.V495A|ZNF423_ENST00000262383.2_Missense_Mutation_p.V612A|ZNF423_ENST00000563137.2_Missense_Mutation_p.V552A	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	612					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V612A(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CGGGGAAGACACCTCCACATC	0.547																																					p.V612A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1835C	16						.						105.0	85.0	92.0					16																	49671228		2198	4300	6498	48228729	SO:0001583	missense	23090	exon5			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.1835T>C	16.37:g.49671228A>G	ENSP00000455426:p.Val612Ala		48228729	NM_015069	O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	A	0.104	-1.148456	0.01714	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.08634	3.07;3.1	4.78	4.78	0.61160	.	0.115121	0.64402	D	0.000017	T	0.04998	0.0134	N	0.08118	0	0.41689	D	0.989333	B	0.24920	0.114	B	0.25614	0.062	T	0.46484	-0.9188	9	.	.	.	.	14.3363	0.66592	1.0:0.0:0.0:0.0	.	612	Q2M1K9	ZN423_HUMAN	A	612;495	ENSP00000262383:V612A;ENSP00000442321:V495A	.	V	-	2	0	ZNF423	48228729	1.000000	0.71417	1.000000	0.80357	0.232000	0.25224	7.155000	0.77445	1.793000	0.52555	0.459000	0.35465	GTG		0.547	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069	
NAGPA	51172	broad.mit.edu	37	16	5075526	5075526	+	Missense_Mutation	SNP	C	C	T	rs141568446	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:5075526C>T	ENST00000312251.3	-	10	1520	c.1501G>A	c.(1501-1503)Gca>Aca	p.A501T	NAGPA_ENST00000381955.3_Missense_Mutation_p.A467T|RP11-165E7.1_ENST00000588778.1_RNA	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	501					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|lysosome organization (GO:0007040)|protein glycosylation (GO:0006486)|protein targeting to lysosome (GO:0006622)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity (GO:0003944)	p.A501T(1)		endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	TCCTTCTCTGCGGCCAGAGGC	0.632													C|||	12	0.00239617	0.0083	0.0	5008	,	,		17637	0.0		0.001	False		,,,				2504	0.0				p.A501T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1501A	16						.	C	THR/ALA	27,4367	32.6+/-62.9	0,27,2170	87.0	99.0	95.0		1501	-10.2	0.0	16	dbSNP_134	95	0,8600		0,0,4300	yes	missense	NAGPA	NM_016256.3	58	0,27,6470	TT,TC,CC		0.0,0.6145,0.2078	benign	501/516	5075526	27,12967	2197	4300	6497	5015527	SO:0001583	missense	51172	exon10			AF187072	CCDS10527.1	16p13.3	2008-02-05			ENSG00000103174	ENSG00000103174	3.1.4.45		17378	protein-coding gene	gene with protein product		607985				10551838, 12058031	Standard	NM_016256		Approved	APAA, UCE	uc002cyg.3	Q9UK23	OTTHUMG00000090515	ENST00000312251.3:c.1501G>A	16.37:g.5075526C>T	ENSP00000310998:p.Ala501Thr		5015527	NM_016256	B2RAS1|Q96EJ8	Missense_Mutation	SNP	ENST00000312251.3	37	CCDS10527.1	.	.	.	.	.	.	.	.	.	.	C	4.106	0.017829	0.07959	0.006145	0.0	ENSG00000103174	ENST00000312251;ENST00000381955	T;T	0.27720	1.65;1.78	5.18	-10.2	0.00374	.	1.419450	0.04281	N	0.343941	T	0.10165	0.0249	N	0.25647	0.755	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.14531	-1.0469	10	0.37606	T	0.19	2.5714	1.4988	0.02472	0.187:0.142:0.2354:0.4356	.	501;467	Q9UK23;Q9UK23-2	NAGPA_HUMAN;.	T	501;467	ENSP00000310998:A501T;ENSP00000371381:A467T	ENSP00000310998:A501T	A	-	1	0	NAGPA	5015527	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-3.149000	0.00582	-1.431000	0.01982	-1.036000	0.02392	GCA		0.632	NAGPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207003.1	NM_016256	
ADCY7	113	broad.mit.edu	37	16	50349014	50349014	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:50349014C>T	ENST00000394697.2	+	25	3401	c.3061C>T	c.(3061-3063)Cga>Tga	p.R1021*	ADCY7_ENST00000254235.3_Nonsense_Mutation_p.R1021*			P51828	ADCY7_HUMAN	adenylate cyclase 7	1021	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.R1021*(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		TGTGGCCAGCCGAATGGAAAG	0.498																																					p.R1021X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3061T	16						.						105.0	108.0	107.0					16																	50349014		2198	4300	6498	48906515	SO:0001587	stop_gained	113	exon24			D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.3061C>T	16.37:g.50349014C>T	ENSP00000378187:p.Arg1021*		48906515	NM_001114	A0AVA6	Nonsense_Mutation	SNP	ENST00000394697.2	37	CCDS10741.1	.	.	.	.	.	.	.	.	.	.	C	43	10.015148	0.99318	.	.	ENSG00000121281	ENST00000394697;ENST00000254235	.	.	.	5.33	4.37	0.52481	.	0.000000	0.38164	U	0.001786	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4594	0.67438	0.3383:0.6617:0.0:0.0	.	.	.	.	X	1021	.	ENSP00000254235:R1021X	R	+	1	2	ADCY7	48906515	0.992000	0.36948	1.000000	0.80357	0.968000	0.65278	0.458000	0.21892	1.449000	0.47699	0.561000	0.74099	CGA		0.498	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3		
MT1A	4489	broad.mit.edu	37	16	56673219	56673219	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:56673219C>T	ENST00000290705.8	+	2	145	c.72C>T	c.(70-72)tgC>tgT	p.C24C	MT1JP_ENST00000564564.1_RNA	NM_005946.2	NP_005937.2	P04731	MT1A_HUMAN	metallothionein 1A	24	Beta.				cellular response to cadmium ion (GO:0071276)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)	p.C24C(1)		endometrium(1)|large_intestine(1)|lung(1)	3					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	GCAAAGAGTGCAAATGCACCT	0.522																																					p.C24C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C72T	16						.						77.0	73.0	74.0					16																	56673219		2198	4300	6498	55230720	SO:0001819	synonymous_variant	4489	exon2			BC029475	CCDS32454.1	16q13	2012-10-02	2007-03-02			ENSG00000205362		"""Metallothioneins"""	7393	protein-coding gene	gene with protein product		156350	"""metallothionein 1S"""	MT1, MT1S		6089206, 6327055	Standard	NM_005946		Approved		uc002ejq.3	P04731		ENST00000290705.8:c.72C>T	16.37:g.56673219C>T			55230720	NM_005946	Q86YX5	Silent	SNP	ENST00000290705.8	37	CCDS32454.1																																																																																				0.522	MT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434324.1	NM_005946	
SLC12A3	6559	broad.mit.edu	37	16	56906572	56906572	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:56906572C>T	ENST00000563236.1	+	8	994	c.969C>T	c.(967-969)gaC>gaT	p.D323D	SLC12A3_ENST00000262502.5_Silent_p.D322D|SLC12A3_ENST00000438926.2_Silent_p.D323D|SLC12A3_ENST00000566786.1_Silent_p.D322D			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	323					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)	p.D323D(1)		breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TTCCAGCGGACATTTTTGTCC	0.597																																					p.D323D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C969T	16						.						82.0	72.0	75.0					16																	56906572		2198	4300	6498	55464073	SO:0001819	synonymous_variant	6559	exon8				CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.969C>T	16.37:g.56906572C>T			55464073	NM_000339	A8MSJ2|C9JNN9	Silent	SNP	ENST00000563236.1	37	CCDS58464.1																																																																																				0.597	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1		
HERPUD1	9709	broad.mit.edu	37	16	56974138	56974138	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:56974138G>A	ENST00000439977.2	+	6	1083	c.886G>A	c.(886-888)Gcc>Acc	p.A296T	RP11-325K4.2_ENST00000570210.1_RNA|HERPUD1_ENST00000344114.4_Intron|HERPUD1_ENST00000379792.2_Missense_Mutation_p.A271T|RP11-325K4.3_ENST00000565861.1_RNA|HERPUD1_ENST00000300302.5_Missense_Mutation_p.A295T|HERPUD1_ENST00000570273.1_Intron	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	296					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of protein binding (GO:0032092)|regulation of protein ubiquitination (GO:0031396)|response to unfolded protein (GO:0006986)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.A296T(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						GGTCATGGGGGCCACCGTTGT	0.403			T	ERG	prostate																																p.A296T			Dom	yes		16	16q12.2-q13	9709	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1"""		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G886A	16						.						146.0	139.0	142.0					16																	56974138		2198	4300	6498	55531639	SO:0001583	missense	9709	exon6			AB034989	CCDS10771.1, CCDS45492.1	16q13	2008-05-14			ENSG00000051108	ENSG00000051108			13744	protein-coding gene	gene with protein product		608070				10922362, 10708769	Standard	NM_001010989		Approved	KIAA0025, Mif1, HERP, SUP	uc002eke.2	Q15011	OTTHUMG00000133276	ENST00000439977.2:c.886G>A	16.37:g.56974138G>A	ENSP00000409555:p.Ala296Thr		55531639	NM_014685	E9PGD1|O60644|Q6IAN8|Q96D92	Missense_Mutation	SNP	ENST00000439977.2	37	CCDS10771.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063623	0.76187	.	.	ENSG00000051108	ENST00000439977;ENST00000379792;ENST00000300302	T	0.19105	2.17	5.74	5.74	0.90152	.	0.149675	0.64402	D	0.000013	T	0.44456	0.1294	L	0.59436	1.845	0.43122	D	0.994848	B;D;D	0.89917	0.397;1.0;0.999	B;D;P	0.71656	0.057;0.974;0.86	T	0.11446	-1.0587	10	0.45353	T	0.12	-5.0882	18.9071	0.92467	0.0:0.0:1.0:0.0	.	271;295;296	E9PGD1;Q15011-2;Q15011	.;.;HERP1_HUMAN	T	295;271;296	ENSP00000369118:A271T	ENSP00000300302:A296T	A	+	1	0	HERPUD1	55531639	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	4.296000	0.59055	2.707000	0.92482	0.655000	0.94253	GCC		0.403	HERPUD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257056.5		
CCDC102A	92922	broad.mit.edu	37	16	57546709	57546709	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:57546709C>T	ENST00000258214.2	-	9	1843	c.1597G>A	c.(1597-1599)Gag>Aag	p.E533K		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	533								p.E533K(1)		endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						GTTCCATCCTCGGCCTCCTCG	0.647																																					p.E533K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1597A	16						.						105.0	90.0	95.0					16																	57546709		2198	4300	6498	56104210	SO:0001583	missense	92922	exon9			BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.1597G>A	16.37:g.57546709C>T	ENSP00000258214:p.Glu533Lys		56104210	NM_033212	Q9BT74	Missense_Mutation	SNP	ENST00000258214.2	37	CCDS10784.1	.	.	.	.	.	.	.	.	.	.	c	16.78	3.216645	0.58452	.	.	ENSG00000135736	ENST00000258214	T	0.42513	0.97	4.62	4.62	0.57501	.	0.156175	0.43260	D	0.000599	T	0.22282	0.0537	N	0.08118	0	0.22940	N	0.998536	B	0.06786	0.001	B	0.04013	0.001	T	0.04781	-1.0927	10	0.07325	T	0.83	-44.7859	16.223	0.82269	0.0:1.0:0.0:0.0	.	533	Q96A19	C102A_HUMAN	K	533	ENSP00000258214:E533K	ENSP00000258214:E533K	E	-	1	0	CCDC102A	56104210	0.399000	0.25287	0.466000	0.27168	0.706000	0.40770	4.656000	0.61483	2.407000	0.81776	0.486000	0.48141	GAG		0.647	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257348.1	NM_033212	
ZNF319	57567	broad.mit.edu	37	16	58031472	58031472	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:58031472G>A	ENST00000299237.2	-	2	1320	c.698C>T	c.(697-699)aCg>aTg	p.T233M	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	233					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.T233M(1)		large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						GTCACACAGCGTGCACTTGTA	0.607																																					p.T233M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C698T	16						.						106.0	102.0	103.0					16																	58031472		2198	4300	6498	56588973	SO:0001583	missense	57567	exon2			AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"""Zinc fingers, C2H2-type"""	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.698C>T	16.37:g.58031472G>A	ENSP00000299237:p.Thr233Met		56588973	NM_020807	Q52LH8	Missense_Mutation	SNP	ENST00000299237.2	37	CCDS32462.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.636075	0.47049	.	.	ENSG00000166188	ENST00000299237	T	0.07800	3.16	5.0	5.0	0.66597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.182787	0.47852	U	0.000219	T	0.23370	0.0565	L	0.55103	1.725	0.38582	D	0.950211	D	0.71674	0.998	D	0.63033	0.91	T	0.01330	-1.1383	10	0.62326	D	0.03	-17.6676	17.2788	0.87122	0.0:0.0:1.0:0.0	.	233	Q9P2F9	ZN319_HUMAN	M	233	ENSP00000299237:T233M	ENSP00000299237:T233M	T	-	2	0	ZNF319	56588973	1.000000	0.71417	0.997000	0.53966	0.698000	0.40448	4.316000	0.59178	2.330000	0.79161	0.561000	0.74099	ACG		0.607	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1		
CNOT1	23019	broad.mit.edu	37	16	58577765	58577765	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:58577765G>A	ENST00000317147.5	-	31	4512	c.4180C>T	c.(4180-4182)Cgt>Tgt	p.R1394C	CNOT1_ENST00000569240.1_Missense_Mutation_p.R1389C|CNOT1_ENST00000245138.4_Missense_Mutation_p.R245C|CNOT1_ENST00000441024.2_Missense_Mutation_p.R1394C	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1394	Interaction with CNOT6, CNOT6L, CNOT7 and CNOT8.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.R1394C(2)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		ATTGCCTGACGCACACACTGC	0.483																																					p.R1394C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4180T	16						.						57.0	50.0	53.0					16																	58577765		2198	4300	6498	57135266	SO:0001583	missense	23019	exon31			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.4180C>T	16.37:g.58577765G>A	ENSP00000320949:p.Arg1394Cys		57135266	NM_206999	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285273	0.80803	.	.	ENSG00000125107	ENST00000317147;ENST00000245138;ENST00000394200;ENST00000441024	T;T	0.48522	0.82;0.81	5.3	5.3	0.74995	CCR4-Not complex, Not1 subunit, domain of unknown function DUF3819 (1);	0.000000	0.85682	D	0.000000	T	0.71091	0.3299	M	0.81497	2.545	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.983;0.978;0.994;0.984	T	0.71388	-0.4608	10	0.39692	T	0.17	-12.351	18.9405	0.92604	0.0:0.0:1.0:0.0	.	245;1394;1394;1389	B5MDN3;A5YKK6-4;A5YKK6;A5YKK6-2	.;.;CNOT1_HUMAN;.	C	1394;245;1389;1394	ENSP00000320949:R1394C;ENSP00000413113:R1394C	ENSP00000245138:R245C	R	-	1	0	CNOT1	57135266	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	5.212000	0.65225	2.461000	0.83175	0.585000	0.79938	CGT		0.483	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284	
CDH11	1009	broad.mit.edu	37	16	64981642	64981642	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:64981642G>A	ENST00000268603.4	-	13	2870	c.2255C>T	c.(2254-2256)gCc>gTc	p.A752V	CDH11_ENST00000394156.3_3'UTR|CDH11_ENST00000566827.1_Missense_Mutation_p.A626V	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	752					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A752V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CAGGGACCCGGCCACTGAGCC	0.502			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																											p.A752V			Dom	yes		16	16q22.1	1009	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2255T	16						.						78.0	81.0	80.0					16																	64981642		2203	4300	6503	63539143	SO:0001583	missense	1009	exon13			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.2255C>T	16.37:g.64981642G>A	ENSP00000268603:p.Ala752Val		63539143	NM_001797	A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620250	0.87460	.	.	ENSG00000140937	ENST00000268603;ENST00000538390	D	0.81908	-1.55	6.17	6.17	0.99709	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.90297	0.6965	L	0.59967	1.855	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.89802	0.3976	10	0.72032	D	0.01	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	752	P55287	CAD11_HUMAN	V	752;735	ENSP00000268603:A752V	ENSP00000268603:A752V	A	-	2	0	CDH11	63539143	1.000000	0.71417	0.985000	0.45067	0.984000	0.73092	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GCC		0.502	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664	
CES4A	283848	broad.mit.edu	37	16	67038040	67038040	+	Silent	SNP	T	T	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:67038040T>G	ENST00000326686.5	+	9	993	c.993T>G	c.(991-993)ccT>ccG	p.P331P	CES4A_ENST00000541479.1_Silent_p.P354P|CES4A_ENST00000338718.4_Silent_p.P354P|CES4A_ENST00000535696.1_Silent_p.P237P|CES4A_ENST00000398354.1_Silent_p.P331P|CES4A_ENST00000540579.1_Silent_p.P233P|CES4A_ENST00000540947.2_Silent_p.P331P			Q5XG92	EST4A_HUMAN	carboxylesterase 4A	331						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)	p.P331P(1)		large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						CAGATGACCCTTTGGTGCTCC	0.512																																					p.P233P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T699G	16						.						227.0	224.0	225.0					16																	67038040		2034	4183	6217	65595541	SO:0001819	synonymous_variant	283848	exon7			AK094783	CCDS42174.1, CCDS42174.2, CCDS54024.1, CCDS54025.1, CCDS42174.3	16q22.1	2011-10-25	2010-10-12	2010-10-12	ENSG00000172824	ENSG00000172824		"""Carboxylesterases"""	26741	protein-coding gene	gene with protein product			"""carboxylesterase 8 (putative)"""	CES8		12975309, 17364878, 20931200	Standard	NM_001190201		Approved	FLJ37464	uc010vix.2	Q5XG92		ENST00000326686.5:c.993T>G	16.37:g.67038040T>G			65595541	NM_001190201	A8KAJ6|B7Z349|B7Z3L2|B7Z6R3|Q6UX55|Q8N9F4	Silent	SNP	ENST00000326686.5	37																																																																																					0.512	CES4A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173815	
KIAA0895L	653319	broad.mit.edu	37	16	67214323	67214323	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:67214323T>C	ENST00000290881.7	-	3	1117	c.191A>G	c.(190-192)cAg>cGg	p.Q64R	KIAA0895L_ENST00000561621.1_Missense_Mutation_p.Q64R|KIAA0895L_ENST00000563902.1_Missense_Mutation_p.Q64R|KIAA0895L_ENST00000563831.2_Intron			Q68EN5	K895L_HUMAN	KIAA0895-like	64	Pro-rich.							p.Q64R(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						TGAGAACGGCTGCTGCTCAGG	0.662																																					p.Q64R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A191G	16						.						11.0	15.0	14.0					16																	67214323		2025	4163	6188	65771824	SO:0001583	missense	653319	exon2			AK092303	CCDS42177.1	16q22.1	2008-11-27				ENSG00000196123			34408	protein-coding gene	gene with protein product							Standard	NM_001040715		Approved	LOC653319	uc002ert.3	Q68EN5		ENST00000290881.7:c.191A>G	16.37:g.67214323T>C	ENSP00000290881:p.Gln64Arg		65771824	NM_001040715	A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	Missense_Mutation	SNP	ENST00000290881.7	37	CCDS42177.1	.	.	.	.	.	.	.	.	.	.	T	3.735	-0.054833	0.07362	.	.	ENSG00000196123	ENST00000290881	.	.	.	4.56	4.56	0.56223	.	0.358324	0.27627	N	0.018521	T	0.38480	0.1042	L	0.34521	1.04	0.33356	D	0.571675	B;B	0.12013	0.005;0.0	B;B	0.08055	0.003;0.0	T	0.44003	-0.9356	9	0.13470	T	0.59	-15.1693	12.2402	0.54538	0.0:0.0:0.0:1.0	.	64;64	Q68EN5-2;Q68EN5	.;K895L_HUMAN	R	64	.	ENSP00000290881:Q64R	Q	-	2	0	KIAA0895L	65771824	0.000000	0.05858	0.151000	0.22473	0.207000	0.24258	0.044000	0.13992	2.048000	0.60808	0.524000	0.50904	CAG		0.662	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421193.4	NM_001040715	
FAM65A	79567	broad.mit.edu	37	16	67576533	67576533	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:67576533C>A	ENST00000379312.3	+	13	1977	c.1856C>A	c.(1855-1857)cCc>cAc	p.P619H	FAM65A_ENST00000428437.2_Missense_Mutation_p.P629H|CTD-2012K14.3_ENST00000563083.1_RNA|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000042381.4_Missense_Mutation_p.P615H|FAM65A_ENST00000540839.3_Missense_Mutation_p.P635H|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000422602.2_Missense_Mutation_p.P635H	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	619	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.P615H(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		ACAGCAAGCCCCACTCATACT	0.552																																					p.P619H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1856A	16						.						400.0	362.0	375.0					16																	67576533		2198	4300	6498	66134034	SO:0001583	missense	79567	exon13			AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.1856C>A	16.37:g.67576533C>A	ENSP00000368614:p.Pro619His		66134034	NM_001193522	B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	ENST00000379312.3	37	CCDS54028.1	.	.	.	.	.	.	.	.	.	.	c	15.67	2.901116	0.52227	.	.	ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	T;T;T	0.22945	1.94;1.94;1.93	4.85	1.66	0.24008	.	1.091620	0.06846	N	0.796639	T	0.14270	0.0345	N	0.08118	0	0.09310	N	1	B;B;B;B	0.16166	0.004;0.004;0.004;0.016	B;B;B;B	0.16722	0.003;0.003;0.003;0.016	T	0.32295	-0.9912	10	0.87932	D	0	0.7199	6.3225	0.21225	0.1542:0.6782:0.0:0.1676	.	629;635;619;635	B4DIM2;E9PBS3;Q6ZS17;B4DEQ9	.;.;FA65A_HUMAN;.	H	619;615;635;629	ENSP00000368614:P619H;ENSP00000042381:P615H;ENSP00000400099:P635H	ENSP00000042381:P615H	P	+	2	0	FAM65A	66134034	0.005000	0.15991	0.025000	0.17156	0.041000	0.13682	2.211000	0.42825	0.172000	0.19760	0.537000	0.68136	CCC		0.552	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519	
DDX28	55794	broad.mit.edu	37	16	68056087	68056087	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:68056087A>G	ENST00000332395.5	-	1	1683	c.1019T>C	c.(1018-1020)tTg>tCg	p.L340S	DUS2_ENST00000432752.1_5'Flank|DUS2_ENST00000565263.1_5'Flank|DUS2_ENST00000358896.6_5'Flank	NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	340	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.L340S(1)		central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		TTTATTCAGCAACTGGCCTAC	0.517																																					p.L340S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1019C	16						.						125.0	109.0	115.0					16																	68056087		2198	4300	6498	66613588	SO:0001583	missense	55794	exon1			AF329821	CCDS10858.1	16q22.1-q22.3	2008-02-05	2003-06-13		ENSG00000182810	ENSG00000182810		"""DEAD-boxes"""	17330	protein-coding gene	gene with protein product		607618	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 28"""			10493829, 11350955	Standard	NM_018380		Approved	MDDX28, FLJ11282	uc002evh.2	Q9NUL7	OTTHUMG00000137549	ENST00000332395.5:c.1019T>C	16.37:g.68056087A>G	ENSP00000332340:p.Leu340Ser		66613588	NM_018380		Missense_Mutation	SNP	ENST00000332395.5	37	CCDS10858.1	.	.	.	.	.	.	.	.	.	.	A	19.92	3.916176	0.73098	.	.	ENSG00000182810	ENST00000332395	T	0.04454	3.62	6.01	6.01	0.97437	DEAD-like helicase (2);	0.145217	0.44902	D	0.000411	T	0.17365	0.0417	M	0.81112	2.525	0.35030	D	0.758658	P	0.46859	0.885	P	0.55222	0.771	T	0.09952	-1.0651	10	0.87932	D	0	-6.1811	11.5291	0.50597	0.9292:0.0:0.0708:0.0	.	340	Q9NUL7	DDX28_HUMAN	S	340	ENSP00000332340:L340S	ENSP00000332340:L340S	L	-	2	0	DDX28	66613588	0.860000	0.29831	0.999000	0.59377	0.665000	0.39181	5.536000	0.67180	2.307000	0.77673	0.528000	0.53228	TTG		0.517	DDX28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268883.1	NM_018380	
PDPR	55066	broad.mit.edu	37	16	70177481	70177481	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:70177481C>T	ENST00000288050.4	+	14	2631	c.1674C>T	c.(1672-1674)ggC>ggT	p.G558G	PDPR_ENST00000567046.1_5'Flank|PDPR_ENST00000398122.3_Silent_p.G458G|PDPR_ENST00000568530.1_Silent_p.G558G|PDPR_ENST00000542659.1_5'Flank|PDPR_ENST00000562100.1_3'UTR	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	558					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)	p.G558G(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		TGCCTGTGGGCCACATTGTGC	0.527																																					p.G558G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1674T	16						.						62.0	63.0	62.0					16																	70177481		1944	4153	6097	68734982	SO:0001819	synonymous_variant	55066	exon14				CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.1674C>T	16.37:g.70177481C>T			68734982	NM_017990	A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Silent	SNP	ENST00000288050.4	37	CCDS45520.1																																																																																				0.527	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990	
FUK	197258	broad.mit.edu	37	16	70515000	70515000	+	IGR	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:70515000C>T	ENST00000288078.6	+	0	4081				COG4_ENST00000323786.5_Silent_p.T761T	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase							cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)	p.T761T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				TGAGGCGCCACGTCAATGGGC	0.582																																					p.T761T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2283A	16						.						57.0	52.0	53.0					16																	70515000		2198	4300	6498	69072501	SO:0001628	intergenic_variant	25839	exon19				CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085		16.37:g.70515000C>T			69072501	NM_015386	Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Silent	SNP	ENST00000288078.6	37	CCDS10891.2																																																																																				0.582	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059	
SF3B3	23450	broad.mit.edu	37	16	70588490	70588490	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:70588490C>T	ENST00000302516.5	+	12	1755	c.1544C>T	c.(1543-1545)gCc>gTc	p.A515V		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	515					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)	p.A515G(1)|p.A515V(1)		breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GGAGATGATGCCTTGGTGCAG	0.507																																					p.A515V												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C1544T	16						.						105.0	89.0	95.0					16																	70588490		2198	4300	6498	69145991	SO:0001583	missense	23450	exon12			AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.1544C>T	16.37:g.70588490C>T	ENSP00000305790:p.Ala515Val		69145991	NM_012426	Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	37	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	C	36	5.710860	0.96821	.	.	ENSG00000189091	ENST00000302516	T	0.37752	1.18	5.98	5.98	0.97165	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.64778	0.2629	M	0.88570	2.965	0.80722	D	1	D	0.54964	0.969	P	0.57960	0.83	T	0.67321	-0.5700	10	0.49607	T	0.09	.	20.4434	0.99119	0.0:1.0:0.0:0.0	.	515	Q15393	SF3B3_HUMAN	V	515	ENSP00000305790:A515V	ENSP00000305790:A515V	A	+	2	0	SF3B3	69145991	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.399000	0.79935	2.838000	0.97847	0.655000	0.94253	GCC		0.507	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426	
HYDIN	54768	broad.mit.edu	37	16	70929908	70929908	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:70929908C>T	ENST00000393567.2	-	54	9274	c.9124G>A	c.(9124-9126)Gcc>Acc	p.A3042T		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3042					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.A599T(1)|p.A2993T(1)|p.A3041T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATGTCCAAGGCGATGTCGTAT	0.443																																					p.A3041T												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G9121A	16						.						34.0	35.0	35.0					16																	70929908		1784	4038	5822	69487409	SO:0001583	missense	54768	exon54			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.9124G>A	16.37:g.70929908C>T	ENSP00000377197:p.Ala3042Thr		69487409	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.719210	0.89205	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01059	5.39	5.03	5.03	0.67393	.	0.000000	0.32736	U	0.005715	T	0.04543	0.0124	M	0.62016	1.91	0.80722	D	1	D	0.71674	0.998	P	0.62435	0.902	T	0.62062	-0.6933	10	0.21014	T	0.42	.	16.1313	0.81442	0.0:1.0:0.0:0.0	.	3041	F8WD23	.	T	3042;3041	ENSP00000377197:A3042T	ENSP00000313052:A3041T	A	-	1	0	HYDIN	69487409	0.726000	0.28059	0.853000	0.33588	0.699000	0.40488	1.440000	0.35024	2.343000	0.79666	0.505000	0.49811	GCC		0.443	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
HYDIN	54768	broad.mit.edu	37	16	71127739	71127739	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:71127739C>T	ENST00000393567.2	-	11	1577	c.1427G>A	c.(1426-1428)gGa>gAa	p.G476E	HYDIN_ENST00000321489.5_Missense_Mutation_p.G476E|HYDIN_ENST00000448089.2_Missense_Mutation_p.G476E|HYDIN_ENST00000393550.2_Missense_Mutation_p.G476E|HYDIN_ENST00000541601.1_Missense_Mutation_p.G493E|HYDIN_ENST00000448691.1_Missense_Mutation_p.G476E|HYDIN_ENST00000288168.10_Missense_Mutation_p.G493E|HYDIN_ENST00000538248.1_Missense_Mutation_p.G503E|RP11-23E19.1_ENST00000563968.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	476					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATGTGCAGATCCAGTGAAAAC	0.408																																					p.G476E												.	.	0			c.G1427A	16						.						54.0	53.0	53.0					16																	71127739		2198	4300	6498	69685240	SO:0001583	missense	54768	exon11			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.1427G>A	16.37:g.71127739C>T	ENSP00000377197:p.Gly476Glu		69685240	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.339464	0.60963	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550	T;T;T;T;T;T;T;T	0.18016	5.39;3.47;3.44;3.44;3.46;3.45;3.09;2.24	5.11	5.11	0.69529	.	0.000000	0.32671	U	0.005781	T	0.46600	0.1401	M	0.81497	2.545	0.49687	D	0.999816	D;D;D;D;D	0.89917	0.999;0.999;0.99;1.0;1.0	D;D;D;D;D	0.97110	0.991;0.991;0.946;0.995;1.0	T	0.50118	-0.8865	10	0.62326	D	0.03	.	18.2034	0.89846	0.0:1.0:0.0:0.0	.	503;493;493;476;476	B4DRN4;F5H6V3;F8WD03;Q4G0P3-5;F8WD23	.;.;.;.;.	E	476;476;476;476;476;503;493;493;476	ENSP00000377197:G476E;ENSP00000398544:G476E;ENSP00000394826:G476E;ENSP00000314736:G476E;ENSP00000444970:G503E;ENSP00000437341:G493E;ENSP00000288168:G493E;ENSP00000377181:G476E	ENSP00000288168:G493E	G	-	2	0	HYDIN	69685240	0.821000	0.29204	0.999000	0.59377	0.476000	0.33039	2.148000	0.42235	2.424000	0.82194	0.430000	0.28490	GGA		0.408	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
ZFHX3	463	broad.mit.edu	37	16	72993557	72993557	+	Missense_Mutation	SNP	C	C	G	rs142229152		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:72993557C>G	ENST00000268489.5	-	2	1160	c.488G>C	c.(487-489)aGt>aCt	p.S163T	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	163					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.S163T(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GAGAGGCCCACTGCCACTGCC	0.672																																					p.S163T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G488C	16						.						28.0	34.0	32.0					16																	72993557		2198	4299	6497	71551058	SO:0001583	missense	463	exon2			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.488G>C	16.37:g.72993557C>G	ENSP00000268489:p.Ser163Thr		71551058	NM_006885	D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	1.390	-0.581087	0.03854	.	.	ENSG00000140836	ENST00000268489	T	0.73897	-0.79	3.99	3.01	0.34805	.	0.202075	0.34314	N	0.004080	T	0.62768	0.2455	N	0.19112	0.55	0.80722	D	1	D	0.60160	0.987	P	0.46885	0.53	T	0.58504	-0.7625	10	0.22109	T	0.4	.	13.7106	0.62665	0.0:0.844:0.156:0.0	.	163	Q15911	ZFHX3_HUMAN	T	163	ENSP00000268489:S163T	ENSP00000268489:S163T	S	-	2	0	ZFHX3	71551058	1.000000	0.71417	0.734000	0.30879	0.072000	0.16883	2.364000	0.44187	0.787000	0.33731	-0.502000	0.04539	AGT		0.672	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885	
MON1B	22879	broad.mit.edu	37	16	77228544	77228544	+	Missense_Mutation	SNP	C	C	T	rs374115505		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:77228544C>T	ENST00000248248.3	+	4	1138	c.788C>T	c.(787-789)gCg>gTg	p.A263V	MON1B_ENST00000545553.1_Missense_Mutation_p.A117V|MON1B_ENST00000320859.6_Intron|MON1B_ENST00000439557.2_Missense_Mutation_p.A154V	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	263								p.A263V(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						GCACTAGGTGCGCTCCTCCGA	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		16010	0.001		0.0	False		,,,				2504	0.0				p.A263V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C788T	16						.	C	VAL/ALA	1,4395	2.1+/-5.4	0,1,2197	36.0	36.0	36.0		788	3.5	0.2	16		36	0,8598		0,0,4299	no	missense	MON1B	NM_014940.2	64	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	benign	263/548	77228544	1,12993	2198	4299	6497	75786045	SO:0001583	missense	22879	exon4			BC024277	CCDS10925.1, CCDS67082.1, CCDS67083.1	16q23.1	2013-08-21	2013-08-21		ENSG00000103111	ENSG00000103111			25020	protein-coding gene	gene with protein product		608954	"""MON1 homolog B (yeast)"""			10048485	Standard	NM_014940		Approved	SAND2, HSRG1, KIAA0872	uc002fez.3	Q7L1V2	OTTHUMG00000137618	ENST00000248248.3:c.788C>T	16.37:g.77228544C>T	ENSP00000248248:p.Ala263Val		75786045	NM_014940	B4DDZ0|O94949	Missense_Mutation	SNP	ENST00000248248.3	37	CCDS10925.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.014942	0.54468	2.27E-4	0.0	ENSG00000103111	ENST00000248248;ENST00000439557;ENST00000545553	.	.	.	4.46	3.5	0.40072	.	0.435304	0.27068	N	0.021088	T	0.65228	0.2671	M	0.73217	2.22	0.80722	D	1	B;B;D;B	0.65815	0.0;0.279;0.995;0.003	B;B;P;B	0.53035	0.002;0.183;0.716;0.003	T	0.68511	-0.5389	9	0.59425	D	0.04	.	11.0017	0.47609	0.0:0.9048:0.0:0.0952	.	117;154;143;263	B4DDZ0;E7EW32;Q6ZR87;Q7L1V2	.;.;.;MON1B_HUMAN	V	263;154;117	.	ENSP00000248248:A263V	A	+	2	0	MON1B	75786045	0.155000	0.22806	0.177000	0.23020	0.818000	0.46254	4.128000	0.57951	1.185000	0.42971	0.561000	0.74099	GCG		0.662	MON1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269036.2	NM_014940	
ADAMTS18	170692	broad.mit.edu	37	16	77396073	77396073	+	Missense_Mutation	SNP	C	C	T	rs368783738		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:77396073C>T	ENST00000282849.5	-	7	1563	c.1145G>A	c.(1144-1146)aGa>aAa	p.R382K		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	382	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.		R -> K (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R382K(2)|p.R382I(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ATGATCATGTCTCTTGCCATT	0.413																																					p.R382K												ADAMTS18,large_intestine,colon,Substitution - Missense,0 	.	3	Substitution - Missense(3)	large_intestine(3)	c.G1145A	16						.	C	LYS/ARG	0,4396		0,0,2198	149.0	125.0	133.0		1145	5.3	1.0	16		133	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADAMTS18	NM_199355.2	26	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	382/1222	77396073	1,12995	2198	4300	6498	75953574	SO:0001583	missense	170692	exon7			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.1145G>A	16.37:g.77396073C>T	ENSP00000282849:p.Arg382Lys		75953574	NM_199355	Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.049175	0.93740	0.0	1.16E-4	ENSG00000140873	ENST00000282849	D	0.86366	-2.11	5.26	5.26	0.73747	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.056950	0.64402	D	0.000005	D	0.87748	0.6255	N	0.20357	0.565	0.58432	D	0.999991	D	0.55800	0.973	P	0.62885	0.908	D	0.86747	0.1958	10	0.33940	T	0.23	.	18.0516	0.89351	0.0:1.0:0.0:0.0	.	382	Q8TE60	ATS18_HUMAN	K	382	ENSP00000282849:R382K	ENSP00000282849:R382K	R	-	2	0	ADAMTS18	75953574	0.997000	0.39634	1.000000	0.80357	0.967000	0.64934	3.187000	0.50950	2.733000	0.93635	0.655000	0.94253	AGA		0.413	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1		
NUDT7	283927	broad.mit.edu	37	16	77769767	77769767	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:77769767C>T	ENST00000268533.5	+	3	301	c.232C>T	c.(232-234)Cgt>Tgt	p.R78C	NUDT7_ENST00000563839.1_Intron|NUDT7_ENST00000437314.3_Intron|NUDT7_ENST00000564085.1_Missense_Mutation_p.R78C|NUDT7_ENST00000568787.1_Missense_Mutation_p.R78C	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	78	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				acetyl-CoA catabolic process (GO:0046356)|brown fat cell differentiation (GO:0050873)|coenzyme A catabolic process (GO:0015938)|nucleoside diphosphate metabolic process (GO:0009132)	peroxisome (GO:0005777)	acetyl-CoA hydrolase activity (GO:0003986)|hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|receptor binding (GO:0005102)|snoRNA binding (GO:0030515)	p.R78C(1)		breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						TGGAGGTAAGCGTGACCCTAC	0.517																																					p.R78C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C232T	16						.						151.0	152.0	152.0					16																	77769767		1966	4158	6124	76327268	SO:0001583	missense	283927	exon3			AA227330	CCDS42195.1, CCDS58480.1, CCDS58479.1, CCDS73916.1	16q23.1	2007-06-15				ENSG00000140876		"""Nudix motif containing"""	8054	protein-coding gene	gene with protein product		609231				11415433	Standard	NM_001105663		Approved		uc010chd.3	P0C024		ENST00000268533.5:c.232C>T	16.37:g.77769767C>T	ENSP00000268533:p.Arg78Cys		76327268	NM_001105663	B4DLE5|H3BUB8	Missense_Mutation	SNP	ENST00000268533.5	37	CCDS42195.1	.	.	.	.	.	.	.	.	.	.	C	6.320	0.427109	0.11987	.	.	ENSG00000140876	ENST00000268533	T	0.08102	3.13	5.63	-8.6	0.00889	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	1.322150	0.04715	N	0.418236	T	0.06096	0.0158	L	0.31157	0.91	0.09310	N	1	B	0.22604	0.072	B	0.17098	0.017	T	0.36504	-0.9745	10	0.37606	T	0.19	11.9847	11.168	0.48554	0.2835:0.5897:0.0:0.1268	.	78	P0C024	NUDT7_HUMAN	C	78	ENSP00000268533:R78C	ENSP00000268533:R78C	R	+	1	0	NUDT7	76327268	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-1.014000	0.03641	-1.158000	0.02811	-0.225000	0.12378	CGT		0.517	NUDT7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433873.1		
CENPN	55839	broad.mit.edu	37	16	81053826	81053826	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:81053826C>T	ENST00000305850.5	+	6	1266	c.476C>T	c.(475-477)cCg>cTg	p.P159L	CENPN_ENST00000439957.3_Missense_Mutation_p.P139L|RP11-303E16.3_ENST00000562315.1_RNA|CENPN_ENST00000393335.3_Missense_Mutation_p.P159L|CENPN_ENST00000299572.5_Missense_Mutation_p.P159L|CMC2_ENST00000565914.1_5'UTR|CENPN_ENST00000428963.2_Missense_Mutation_p.P159L	NM_001100624.2|NM_001270474.1	NP_001094094.2|NP_001257403.1	Q96H22	CENPN_HUMAN	centromere protein N	159					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.P159L(1)|p.P139L(1)		breast(1)|large_intestine(5)|lung(4)	10						TCCCAGACTCCGTACGCCTTC	0.458																																					p.P159L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C476T	16						.						135.0	97.0	110.0					16																	81053826		2202	4300	6502	79611327	SO:0001583	missense	55839	exon6			AK026313	CCDS10931.1, CCDS42199.1, CCDS42200.1, CCDS58482.1, CCDS58483.1	16q23.2	2013-11-05	2006-06-15	2006-06-15	ENSG00000166451	ENSG00000166451			30873	protein-coding gene	gene with protein product		611509	"""chromosome 16 open reading frame 60"""	C16orf60		16622419	Standard	NM_001100625		Approved	FLJ13607, FLJ22660, BM039	uc002ffy.4	Q96H22	OTTHUMG00000137628	ENST00000305850.5:c.476C>T	16.37:g.81053826C>T	ENSP00000305608:p.Pro159Leu		79611327	NM_018455	A8MZE6|B3KN53|B4DJD1|B4DPY7|C9JJM5|D3DUK8|E7ES30|E7ETS3|Q9NZ83	Missense_Mutation	SNP	ENST00000305850.5	37	CCDS42200.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898768	0.52227	.	.	ENSG00000166451	ENST00000305850;ENST00000299572;ENST00000439957;ENST00000393335;ENST00000428963	T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1	5.89	4.91	0.64330	.	0.098057	0.64402	D	0.000001	T	0.65831	0.2729	M	0.74258	2.255	0.58432	D	0.999997	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.71276	-0.4641	10	0.87932	D	0	-3.4351	16.7046	0.85368	0.0:0.8704:0.1296:0.0	.	139;159;159;159;159	E7ETS3;E7ES30;A8MZE6;Q96H22;Q96H22-2	.;.;.;CENPN_HUMAN;.	L	159;159;139;159;159	ENSP00000305608:P159L;ENSP00000299572:P159L;ENSP00000395235:P139L;ENSP00000377007:P159L;ENSP00000393991:P159L	ENSP00000299572:P159L	P	+	2	0	CENPN	79611327	0.966000	0.33281	0.325000	0.25375	0.004000	0.04260	3.695000	0.54749	1.428000	0.47296	0.655000	0.94253	CCG		0.458	CENPN-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269051.1	NM_018455	
GAN	8139	broad.mit.edu	37	16	81391440	81391440	+	Nonsense_Mutation	SNP	C	C	T	rs370358470		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:81391440C>T	ENST00000568107.2	+	5	1039	c.877C>T	c.(877-879)Cga>Tga	p.R293*		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	293					cell death (GO:0008219)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R293*(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				AGCAGCGATGCGATGCATGTG	0.443																																					p.R293X	GBM(106;1239 1507 7582 9741 33976)											.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C877T	16	GRCh37	CM002982	GAN	M		.	C	stop/ARG	0,4404		0,0,2202	187.0	163.0	171.0		877	5.9	1.0	16		171	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	GAN	NM_022041.3		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		293/598	81391440	1,13003	2202	4300	6502	79948941	SO:0001587	stop_gained	8139	exon5			AF291673	CCDS10935.1	16q24.1	2014-09-17	2008-08-01		ENSG00000261609	ENSG00000261609		"""Kelch-like"", ""BTB/POZ domain containing"""	4137	protein-coding gene	gene with protein product	"""kelch-like family member 16"""	605379	"""giant axonal neuropathy (gigaxonin)"""			9450783, 11062483	Standard	NM_022041		Approved	GAN1, KLHL16	uc002fgo.3	Q9H2C0	OTTHUMG00000137627	ENST00000568107.2:c.877C>T	16.37:g.81391440C>T	ENSP00000476795:p.Arg293*		79948941	NM_022041		Nonsense_Mutation	SNP	ENST00000568107.2	37	CCDS10935.1	.	.	.	.	.	.	.	.	.	.	C	40	8.149539	0.98678	0.0	1.16E-4	ENSG00000127688	ENST00000248272	.	.	.	5.94	5.94	0.96194	.	0.105066	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	20.3552	0.98837	0.0:1.0:0.0:0.0	.	.	.	.	X	293	.	ENSP00000248272:R293X	R	+	1	2	GAN	79948941	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	5.861000	0.69553	2.812000	0.96745	0.557000	0.71058	CGA		0.443	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269050.3		
MBTPS1	8720	broad.mit.edu	37	16	84088131	84088131	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:84088131G>A	ENST00000343411.3	-	23	3577	c.3082C>T	c.(3082-3084)Ccg>Tcg	p.P1028S		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	1028	Arg/Lys/Pro-rich (basic).				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.P1028S(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTCCGCTTCGGCCTGCTCTTG	0.617																																					p.P1028S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3082T	16						.						70.0	62.0	65.0					16																	84088131		2200	4300	6500	82645632	SO:0001583	missense	8720	exon23			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.3082C>T	16.37:g.84088131G>A	ENSP00000344223:p.Pro1028Ser		82645632	NM_003791	A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	37	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	G	33	5.202100	0.94997	.	.	ENSG00000140943	ENST00000343411;ENST00000347334	T	0.35048	1.33	5.8	5.8	0.92144	.	0.119619	0.56097	D	0.000021	T	0.50446	0.1616	L	0.27053	0.805	0.80722	D	1	D	0.63880	0.993	D	0.72982	0.979	T	0.51020	-0.8758	10	0.66056	D	0.02	-15.2883	20.063	0.97692	0.0:0.0:1.0:0.0	.	1028	Q14703	MBTP1_HUMAN	S	1028;473	ENSP00000344223:P1028S	ENSP00000344223:P1028S	P	-	1	0	MBTPS1	82645632	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.618000	0.98365	2.735000	0.93741	0.655000	0.94253	CCG		0.617	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791	
USP10	9100	broad.mit.edu	37	16	84792971	84792971	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:84792971A>G	ENST00000219473.7	+	6	1400	c.1287A>G	c.(1285-1287)acA>acG	p.T429T	USP10_ENST00000570191.1_Silent_p.T433T	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	429	USP.				autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.T429T(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						CTACATAGACACTGCAGGCAT	0.448																																					p.T429T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1287G	16						.						98.0	91.0	93.0					16																	84792971		2023	4198	6221	83350472	SO:0001819	synonymous_variant	9100	exon6			D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"""Ubiquitin-specific peptidases"""	12608	protein-coding gene	gene with protein product		609818	"""ubiquitin specific protease 10"""			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.1287A>G	16.37:g.84792971A>G			83350472	NM_005153	B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Silent	SNP	ENST00000219473.7	37	CCDS45537.1																																																																																				0.448	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1		
GSE1	23199	broad.mit.edu	37	16	85699805	85699805	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:85699805C>T	ENST00000253458.7	+	13	3158	c.2982C>T	c.(2980-2982)ggC>ggT	p.G994G	GSE1_ENST00000405402.2_Silent_p.G890G|GSE1_ENST00000393243.1_Silent_p.G921G	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	994								p.G994G(1)									ATATCCGGGGCGCTGCACCCA	0.602																																					p.G890G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2670T	16						.						45.0	45.0	45.0					16																	85699805		2198	4300	6498	84257306	SO:0001819	synonymous_variant	23199	exon12			D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.2982C>T	16.37:g.85699805C>T			84257306	NM_001134473	D3DUM4|Q8IY61|Q96GA4|Q9BW09	Silent	SNP	ENST00000253458.7	37	CCDS10952.1	.	.	.	.	.	.	.	.	.	.	C	6.983	0.551351	0.13374	.	.	ENSG00000131149	ENST00000412692;ENST00000438180	.	.	.	5.37	2.11	0.27256	.	.	.	.	.	T	0.43233	0.1238	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23440	-1.0188	4	.	.	.	-31.1561	1.6759	0.02821	0.2508:0.3548:0.2424:0.152	.	.	.	.	V	763;196	.	.	A	+	2	0	KIAA0182	84257306	0.827000	0.29292	0.396000	0.26296	0.654000	0.38779	-0.049000	0.11924	0.161000	0.19458	0.561000	0.74099	GCG		0.602	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615	
FOXF1	2294	broad.mit.edu	37	16	86544490	86544490	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:86544490C>T	ENST00000262426.4	+	1	358	c.315C>T	c.(313-315)tgC>tgT	p.C105C	FENDRR_ENST00000595886.1_lincRNA	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	105					blood vessel development (GO:0001568)|branching involved in open tracheal system development (GO:0060446)|cardiac left ventricle morphogenesis (GO:0003214)|cellular response to cytokine stimulus (GO:0071345)|cellular response to organic cyclic compound (GO:0071407)|detection of wounding (GO:0014822)|determination of left/right symmetry (GO:0007368)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic ectodermal digestive tract morphogenesis (GO:0048613)|embryonic foregut morphogenesis (GO:0048617)|endocardial cushion development (GO:0003197)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lateral mesodermal cell differentiation (GO:0048371)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|mesenchyme migration (GO:0090131)|midgut development (GO:0007494)|morphogenesis of a branching structure (GO:0001763)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|respiratory tube development (GO:0030323)|right lung morphogenesis (GO:0060461)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|smoothened signaling pathway (GO:0007224)|somitogenesis (GO:0001756)|trachea development (GO:0060438)|ureter development (GO:0072189)|vasculogenesis (GO:0001570)|venous blood vessel development (GO:0060841)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)	p.C80C(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						TCAACGAGTGCTTCATCAAGC	0.632																																					p.C105C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C315T	16						.						77.0	89.0	85.0					16																	86544490		2198	4300	6498	85101991	SO:0001819	synonymous_variant	2294	exon1			U13219	CCDS10957.2	16q24	2008-02-05			ENSG00000103241	ENSG00000103241		"""Forkhead boxes"""	3809	protein-coding gene	gene with protein product		601089		FKHL5		8825632, 7957066	Standard	NM_001451		Approved	FREAC1	uc002fjl.3	Q12946	OTTHUMG00000137651	ENST00000262426.4:c.315C>T	16.37:g.86544490C>T			85101991	NM_001451	B2RAF4|Q5FWE5	Silent	SNP	ENST00000262426.4	37	CCDS10957.2																																																																																				0.632	FOXF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000269103.2	NM_001451	
JPH3	57338	broad.mit.edu	37	16	87678420	87678420	+	Silent	SNP	C	C	T	rs144601410	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:87678420C>T	ENST00000284262.2	+	2	1181	c.939C>T	c.(937-939)ggC>ggT	p.G313G		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	313					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)	p.G313G(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		AGTACGAGGGCGAGTGGGCCA	0.657													C|||	5	0.000998403	0.0	0.0	5008	,	,		13985	0.004		0.001	False		,,,				2504	0.0				p.G313G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C939T	16						.						64.0	70.0	68.0					16																	87678420		2198	4300	6498	86235921	SO:0001819	synonymous_variant	57338	exon2			AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.939C>T	16.37:g.87678420C>T			86235921	NM_020655	D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Silent	SNP	ENST00000284262.2	37	CCDS10962.1																																																																																				0.657	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2		
CA5A	763	broad.mit.edu	37	16	87936073	87936073	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:87936073G>A	ENST00000309893.2	-	4	578	c.513C>T	c.(511-513)gtC>gtT	p.V171V		NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial	171					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.V171V(1)		large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)	Brinzolamide(DB01194)|Zonisamide(DB00909)	TCTCTCCCACGACAGCTTCCT	0.383																																					p.V171V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C513T	16						.						80.0	73.0	76.0					16																	87936073		2198	4300	6498	86493574	SO:0001819	synonymous_variant	763	exon4			L19297	CCDS10965.1	16q24.2	2012-08-21			ENSG00000174990	ENSG00000174990	4.2.1.1	"""Carbonic anhydrases"""	1377	protein-coding gene	gene with protein product		114761		CA5		8356065, 7490083	Standard	NM_001739		Approved	CAV, CAVA	uc002fkn.1	P35218	OTTHUMG00000137677	ENST00000309893.2:c.513C>T	16.37:g.87936073G>A			86493574	NM_001739	B2RPF2	Silent	SNP	ENST00000309893.2	37	CCDS10965.1																																																																																				0.383	CA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269164.1	NM_001739	
CLDN6	9074	broad.mit.edu	37	16	3065486	3065486	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:3065486delC	ENST00000396925.1	-	3	965	c.537delG	c.(535-537)gggfs	p.G179fs	CLDN6_ENST00000328796.4_Frame_Shift_Del_p.G179fs|CLDN6_ENST00000572154.1_Intron|TNFRSF12A_ENST00000573001.1_5'Flank			P56747	CLD6_HUMAN	claudin 6	179					calcium-independent cell-cell adhesion (GO:0016338)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.L180fs*>41(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						AGCACAGCAACCCCCCACCCA	0.662																																					p.G179fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.537delG	16						.						20.0	25.0	23.0					16																	3065486		2198	4300	6498	3005487	SO:0001589	frameshift_variant	9074	exon2			AJ249735	CCDS10488.1	16p13.3	2008-08-01			ENSG00000184697	ENSG00000184697		"""Claudins"""	2048	protein-coding gene	gene with protein product		615798				9892664, 18234789	Standard	NM_021195		Approved		uc002csu.4	P56747	OTTHUMG00000128999	ENST00000396925.1:c.537delG	16.37:g.3065486delC	ENSP00000380131:p.Gly179fs		3005487	NM_021195	B3KQP9|D3DUA5	Frame_Shift_Del	DEL	ENST00000396925.1	37	CCDS10488.1																																																																																				0.662	CLDN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250988.1	NM_021195	
USP7	7874	broad.mit.edu	37	16	8993577	8993577	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:8993577C>T	ENST00000344836.4	-	22	2545	c.2347G>A	c.(2347-2349)Gca>Aca	p.A783T	USP7_ENST00000535863.1_Missense_Mutation_p.A684T|USP7_ENST00000381886.4_Missense_Mutation_p.A767T	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	783	Interaction with ICP0/VMW110.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.A783T(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TACTCCTTTGCGGTGGGTAAT	0.433																																					p.A783T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2347A	16						.						152.0	134.0	140.0					16																	8993577		2197	4300	6497	8901078	SO:0001583	missense	7874	exon22			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.2347G>A	16.37:g.8993577C>T	ENSP00000343535:p.Ala783Thr		8901078	NM_003470	A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	C	35	5.587330	0.96590	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549	T;T	0.08634	3.07;3.08	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.17874	0.0429	L	0.40543	1.245	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.55303	0.773;0.773	T	0.00149	-1.1987	10	0.45353	T	0.12	.	19.7815	0.96417	0.0:1.0:0.0:0.0	.	783;767	Q93009;B7Z815	UBP7_HUMAN;.	T	783;791;684;684	ENSP00000343535:A783T;ENSP00000443646:A684T	ENSP00000343535:A783T	A	-	1	0	USP7	8901078	1.000000	0.71417	0.785000	0.31869	0.936000	0.57629	7.524000	0.81866	2.674000	0.91012	0.555000	0.69702	GCA		0.433	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2		
NTAN1	123803	broad.mit.edu	37	16	15131990	15131990	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:15131990delT	ENST00000287706.3	-	10	923	c.831delA	c.(829-831)aaafs	p.K277fs	PDXDC1_ENST00000535621.2_Intron	NM_001270766.1|NM_173474.3	NP_001257695.1|NP_775745.1	Q96AB6	NTAN1_HUMAN	N-terminal asparagine amidase	277					adult locomotory behavior (GO:0008344)|memory (GO:0007613)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-N-terminal asparagine amidohydrolase activity (GO:0008418)	p.K277fs*>34(2)		endometrium(1)|large_intestine(4)|lung(3)	8						GAGATGGGTGTTTTTTTAAAA	0.413																																					p.K277fs												.	.	2	Deletion - Frameshift(2)	large_intestine(1)|lung(1)	c.831delA	16						.						74.0	75.0	75.0					16																	15131990		2197	4300	6497	15039491	SO:0001589	frameshift_variant	123803	exon10			AF092440	CCDS10558.1, CCDS73832.1	16p13	2008-02-05			ENSG00000157045	ENSG00000157045			29909	protein-coding gene	gene with protein product		615367				8910481	Standard	NM_173474		Approved		uc002ddd.4	Q96AB6	OTTHUMG00000129849	ENST00000287706.3:c.831delA	16.37:g.15131990delT	ENSP00000287706:p.Lys277fs		15039491	NM_173474	Q7Z4Z0	Frame_Shift_Del	DEL	ENST00000287706.3	37	CCDS10558.1																																																																																				0.413	NTAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252089.1	NM_173474	
SPN	6693	broad.mit.edu	37	16	29676238	29676238	+	Frame_Shift_Del	DEL	G	G	-	rs549616294	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:29676238delG	ENST00000360121.3	+	2	1281	c.1189delG	c.(1189-1191)gggfs	p.G397fs	SPN_ENST00000395389.2_Frame_Shift_Del_p.G397fs	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	O75398	DEAF1_HUMAN	sialophorin	0	Pro-rich.		Y -> F (in a primary colorectal cancer). {ECO:0000269|PubMed:11705868}.		anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A398fs*>3(1)		central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						AGGGGGAGACGGGGCTGCCCC	0.662																																					p.G397fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1189delG	16						.						16.0	20.0	18.0					16																	29676238		2148	4268	6416	29583739	SO:0001589	frameshift_variant	6693	exon2			J04536	CCDS10650.1	16p11.2	2008-07-31	2008-07-31		ENSG00000197471	ENSG00000197471		"""CD molecules"""	11249	protein-coding gene	gene with protein product	"""leukosialin"""	182160	"""sialophorin (gpL115, leukosialin, CD43)"""			2784859, 2521952	Standard	NM_001030288		Approved	LSN, CD43, GPL115	uc002dtm.4	P16150	OTTHUMG00000097765	ENST00000360121.3:c.1189delG	16.37:g.29676238delG	ENSP00000353238:p.Gly397fs		29583739	NM_001030288	A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Frame_Shift_Del	DEL	ENST00000360121.3	37	CCDS10650.1																																																																																				0.662	SPN-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215001.2		
PRRT2	112476	broad.mit.edu	37	16	29825016	29825016	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:29825016delC	ENST00000358758.7	+	2	924	c.641delC	c.(640-642)gccfs	p.A214fs	PAGR1_ENST00000320330.6_5'Flank|PRRT2_ENST00000300797.6_Frame_Shift_Del_p.A214fs|PAGR1_ENST00000609618.1_5'Flank|PRRT2_ENST00000567659.1_Frame_Shift_Del_p.A214fs|PRRT2_ENST00000567551.1_3'UTR|AC009133.20_ENST00000569039.1_RNA|AC009133.14_ENST00000569981.1_RNA	NM_001256442.1|NM_001256443.1|NM_145239.2	NP_001243371.1|NP_001243372.1|NP_660282.2	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	214	Pro-rich.		A -> P. {ECO:0000269|PubMed:22101681}.	A -> AP (in Ref. 3; CAD38881). {ECO:0000305}.	neuromuscular process controlling posture (GO:0050884)|response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.R217fs*12(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						GCCAATGGGGCCCCCCCCCGA	0.652																																					p.A214fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.641delC	16						.			156,267,3649		3,1,149,6,254,1623	9.0	10.0	10.0			3.9	1.0	16		10	258,545,7149		8,2,240,21,501,3204	no	codingComplex	PRRT2	NM_145239.2		11,3,389,27,755,4827	A1A1,A1A2,A1R,A2A2,A2R,RR		10.0981,10.388,10.1963			29825016	414,812,10798	2137	4212	6349	29732517	SO:0001589	frameshift_variant	112476	exon2			BC011405	CCDS10654.1, CCDS58445.1, CCDS58446.1	16p11.2	2014-02-03			ENSG00000167371	ENSG00000167371		"""Proline-rich transmembrane proteins"""	30500	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 1"""	614386	"""infantile convulsions and paroxysmal choreoathetosis"""	ICCA		22101681, 22243967	Standard	NM_145239		Approved	FLJ25513, DKFZp547J199, IFITMD1, FICCA	uc002dud.3	Q7Z6L0	OTTHUMG00000177142	ENST00000358758.7:c.641delC	16.37:g.29825016delC	ENSP00000351608:p.Ala214fs		29732517	NM_145239	A8K8M8|Q8N2N8|Q8NAQ7|Q8ND36|Q96FA8	Frame_Shift_Del	DEL	ENST00000358758.7	37	CCDS10654.1																																																																																				0.652	PRRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255161.3	NM_145239	
CYLD	1540	broad.mit.edu	37	16	50825519	50825519	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:50825519delA	ENST00000427738.3	+	14	2364	c.2159delA	c.(2158-2160)gaafs	p.E720fs	CYLD_ENST00000568704.2_Frame_Shift_Del_p.E535fs|CYLD_ENST00000564326.1_Frame_Shift_Del_p.E717fs|CYLD_ENST00000566206.1_Frame_Shift_Del_p.E717fs|CYLD_ENST00000569418.1_Frame_Shift_Del_p.E717fs|CYLD_ENST00000398568.2_Frame_Shift_Del_p.E717fs|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000540145.1_Frame_Shift_Del_p.E720fs|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000311559.9_Frame_Shift_Del_p.E720fs			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	720	USP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.N722fs*13(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				ATTTTTATGGAAAAAAATGAG	0.338			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																												p.E720fs		yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	familial cylindromatosis gene		E	.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2159delA	16						.						81.0	78.0	79.0					16																	50825519		1807	4069	5876	49383020	SO:0001589	frameshift_variant	1540	exon16	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.2159delA	16.37:g.50825519delA	ENSP00000392025:p.Glu720fs		49383020	NM_015247	O94934|Q7L3N6|Q96EH0|Q9NZX9	Frame_Shift_Del	DEL	ENST00000427738.3	37	CCDS45482.1																																																																																				0.338	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2		
CHST4	10164	broad.mit.edu	37	16	71570593	71570593	+	Frame_Shift_Del	DEL	A	A	-	rs200919282		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:71570593delA	ENST00000338482.5	+	3	356	c.13delA	c.(13-15)aaafs	p.K6fs	ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000539698.3_Frame_Shift_Del_p.K6fs|CHST4_ENST00000572450.1_Frame_Shift_Del_p.K6fs			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	6					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)	p.M7fs*1(1)		cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						GCTACTGCCTAAAAAAATGAA	0.463																																					p.K5fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.13delA	16						.						77.0	82.0	80.0					16																	71570593		2198	4300	6498	70128094	SO:0001589	frameshift_variant	10164	exon2			AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835		"""Sulfotransferases, membrane-bound"""	1972	protein-coding gene	gene with protein product						10330415	Standard	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.13delA	16.37:g.71570593delA	ENSP00000341206:p.Lys6fs		70128094	NM_001166395	Q8IV46|Q9Y5R3	Frame_Shift_Del	DEL	ENST00000338482.5	37	CCDS10902.1																																																																																				0.463	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268992.4	NM_005769	
PLCG2	5336	broad.mit.edu	37	16	81904511	81904511	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:81904511delA	ENST00000359376.3	+	7	833	c.619delA	c.(619-621)aaafs	p.K208fs		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	208					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.K208fs*55(2)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TCTCTTCTATAAAAAACTTAT	0.363																																					p.K207fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.619delA	16						.						91.0	90.0	90.0					16																	81904511		1832	4093	5925	80462012	SO:0001589	frameshift_variant	5336	exon7				CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.619delA	16.37:g.81904511delA	ENSP00000352336:p.Lys208fs		80462012	NM_002661	D3DUL3|Q3ZTS2|Q59H45|Q969T5	Frame_Shift_Del	DEL	ENST00000359376.3	37	CCDS42204.1																																																																																				0.363	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1		
ZC3H18	124245	broad.mit.edu	37	16	88664723	88664723	+	Missense_Mutation	SNP	G	G	A	rs201965675		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr16:88664723G>A	ENST00000301011.5	+	4	1026	c.826G>A	c.(826-828)Gcc>Acc	p.A276T	ZC3H18_ENST00000452588.2_Missense_Mutation_p.A300T	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	276	Pro-rich.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.A276T(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GCTGATGCCCGCCAACCCTTG	0.557																																					p.A276T	Ovarian(121;375 2276 20373 38669)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G826A	16						.						77.0	80.0	79.0					16																	88664723		2198	4300	6498	87192224	SO:0001583	missense	124245	exon4			BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.826G>A	16.37:g.88664723G>A	ENSP00000301011:p.Ala276Thr		87192224	NM_144604	Q96DG4|Q96MP7	Missense_Mutation	SNP	ENST00000301011.5	37	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469330	0.63625	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588;ENST00000545404	T;T	0.32753	1.5;1.44	5.39	5.39	0.77823	.	0.194113	0.47852	D	0.000210	T	0.23171	0.0560	L	0.54323	1.7	0.45250	D	0.99825	P;P;P	0.43314	0.803;0.803;0.803	B;B;B	0.28849	0.095;0.095;0.095	T	0.15407	-1.0438	10	0.06891	T	0.86	-27.7688	17.3362	0.87282	0.0:0.0:1.0:0.0	.	300;300;276	E7ERS3;B4DTK7;Q86VM9	.;.;ZCH18_HUMAN	T	276;300;300;159	ENSP00000301011:A276T;ENSP00000416951:A300T	ENSP00000289509:A300T	A	+	1	0	ZC3H18	87192224	0.999000	0.42202	0.998000	0.56505	0.959000	0.62525	2.940000	0.49003	2.517000	0.84864	0.462000	0.41574	GCC		0.557	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604	
CCDC137	339230	broad.mit.edu	37	17	79637474	79637475	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:79637474_79637475insA	ENST00000329214.8	+	3	891_892	c.488_489insA	c.(487-492)gcaaaafs	p.AK163fs		NM_199287.2	NP_954981.1	Q6PK04	CC137_HUMAN	coiled-coil domain containing 137	163							poly(A) RNA binding (GO:0044822)	p.A166fs*9(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2)	12	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CAGAAAAAAGCAAAAAAAGCGT	0.604																																					p.A163fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.488_489insA	17						.																																			77247880	SO:0001589	frameshift_variant	339230	exon3			BC009369	CCDS42400.1	17q25.3	2008-07-04				ENSG00000185298			33451	protein-coding gene	gene with protein product		614271					Standard	NM_199287		Approved	MGC16597	uc002kbc.4	Q6PK04		ENST00000329214.8:c.495dupA	17.37:g.79637481_79637481dupA	ENSP00000329360:p.Ala163fs		77247879	NM_199287		Frame_Shift_Ins	INS	ENST00000329214.8	37	CCDS42400.1																																																																																				0.604	CCDC137-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440387.1		
MYH13	8735	broad.mit.edu	37	17	10265485	10265485	+	Missense_Mutation	SNP	G	G	A	rs370603078		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:10265485G>A	ENST00000418404.3	-	4	618	c.455C>T	c.(454-456)cCg>cTg	p.P152L	MYH13_ENST00000252172.4_Missense_Mutation_p.P152L			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	152	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.P152L(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GATGTGGGGCGGGGCCTCCTG	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		18571	0.001		0.0	False		,,,				2504	0.0				p.P152L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C455T	17						.	G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	97.0	108.0	105.0		455	4.1	1.0	17		105	0,8594		0,0,4297	no	missense	MYH13	NM_003802.2	98	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	152/1939	10265485	1,12999	2203	4297	6500	10206210	SO:0001583	missense	8735	exon5			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.455C>T	17.37:g.10265485G>A	ENSP00000404570:p.Pro152Leu		10206210	NM_003802	O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.388275	0.61956	2.27E-4	0.0	ENSG00000006788	ENST00000252172	T	0.74526	-0.85	4.08	4.08	0.47627	Myosin head, motor domain (2);	.	.	.	.	D	0.91307	0.7259	H	0.98178	4.165	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94795	0.7965	9	0.87932	D	0	.	16.8101	0.85717	0.0:0.0:1.0:0.0	.	152	Q9UKX3	MYH13_HUMAN	L	152	ENSP00000252172:P152L	ENSP00000252172:P152L	P	-	2	0	MYH13	10206210	1.000000	0.71417	0.981000	0.43875	0.224000	0.24922	9.450000	0.97607	2.272000	0.75746	0.313000	0.20887	CCG		0.502	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802	
MYH4	4622	broad.mit.edu	37	17	10348004	10348004	+	Missense_Mutation	SNP	G	G	A	rs34260986	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:10348004G>A	ENST00000255381.2	-	39	5694	c.5584C>T	c.(5584-5586)Cgc>Tgc	p.R1862C	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1862			R -> C (in dbSNP:rs34260986).		actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.R1862C(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ATATTCTTGCGGTCCTCCTCA	0.418													G|||	16	0.00319489	0.0121	0.0	5008	,	,		19070	0.0		0.0	False		,,,				2504	0.0				p.R1862C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5584T	17						.	G	CYS/ARG	46,4360	48.2+/-83.0	0,46,2157	113.0	114.0	114.0		5584	5.0	1.0	17	dbSNP_126	114	0,8600		0,0,4300	yes	missense	MYH4	NM_017533.2	180	0,46,6457	AA,AG,GG		0.0,1.044,0.3537	probably-damaging	1862/1940	10348004	46,12960	2203	4300	6503	10288729	SO:0001583	missense	4622	exon39				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5584C>T	17.37:g.10348004G>A	ENSP00000255381:p.Arg1862Cys		10288729	NM_017533		Missense_Mutation	SNP	ENST00000255381.2	37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.193405	0.38707	0.01044	0.0	ENSG00000141048	ENST00000255381	T	0.81247	-1.47	4.98	4.98	0.66077	Myosin tail (1);	0.000000	0.37530	U	0.002053	T	0.80065	0.4555	M	0.91561	3.22	0.45791	D	0.998679	B	0.20459	0.045	B	0.20955	0.032	T	0.82481	-0.0436	10	0.87932	D	0	.	13.1511	0.59490	0.0:0.0:0.7243:0.2757	rs34260986	1862	Q9Y623	MYH4_HUMAN	C	1862	ENSP00000255381:R1862C	ENSP00000255381:R1862C	R	-	1	0	MYH4	10288729	0.623000	0.27094	1.000000	0.80357	0.990000	0.78478	0.687000	0.25407	2.744000	0.94065	0.655000	0.94253	CGC		0.418	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533	
MYH1	4619	broad.mit.edu	37	17	10404439	10404439	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:10404439G>A	ENST00000226207.5	-	27	3820	c.3726C>T	c.(3724-3726)gtC>gtT	p.V1242V	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1242					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.V1242V(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGGCTTTGGAGACAGTCTCCA	0.403																																					p.V1242V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3726T	17						.						149.0	124.0	133.0					17																	10404439		2203	4300	6503	10345164	SO:0001819	synonymous_variant	4619	exon27				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3726C>T	17.37:g.10404439G>A			10345164	NM_005963	Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	CCDS11155.1																																																																																				0.403	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	
MYH1	4619	broad.mit.edu	37	17	10406461	10406461	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:10406461A>G	ENST00000226207.5	-	23	2890	c.2796T>C	c.(2794-2796)gaT>gaC	p.D932D	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	932					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.D932D(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCTCTTCCTCATCCTCAGCTC	0.463																																					p.D932D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2796C	17						.						84.0	81.0	82.0					17																	10406461		2202	4281	6483	10347186	SO:0001819	synonymous_variant	4619	exon23				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.2796T>C	17.37:g.10406461A>G			10347186	NM_005963	Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	CCDS11155.1																																																																																				0.463	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	
MYH3	4621	broad.mit.edu	37	17	10558265	10558265	+	Silent	SNP	G	G	A	rs267604728		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:10558265G>A	ENST00000583535.1	-	3	204	c.117C>T	c.(115-117)ttC>ttT	p.F39F	MYH3_ENST00000226209.7_Silent_p.F39F	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	39					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)	p.F39F(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						AGTCCACCACGAAGCAATACG	0.493																																					p.F39F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C117T	17						.						232.0	217.0	222.0					17																	10558265		2203	4300	6503	10498990	SO:0001819	synonymous_variant	4621	exon2				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.117C>T	17.37:g.10558265G>A			10498990	NM_002470	Q15492	Silent	SNP	ENST00000583535.1	37	CCDS11157.1																																																																																				0.493	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470	
YWHAE	7531	broad.mit.edu	37	17	1264518	1264518	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:1264518A>C	ENST00000264335.8	-	4	713	c.446T>G	c.(445-447)cTa>cGa	p.L149R	YWHAE_ENST00000575977.1_Intron|YWHAE_ENST00000571732.1_Missense_Mutation_p.L127R|YWHAE_ENST00000573026.1_Intron	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon	149					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cerebral cortex development (GO:0021987)|G2/M transition of mitotic cell cycle (GO:0000086)|hippo signaling (GO:0035329)|hippocampus development (GO:0021766)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|mitotic cell cycle (GO:0000278)|negative regulation of peptidyl-serine dephosphorylation (GO:1902309)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|substantia nigra development (GO:0021762)|viral process (GO:0016032)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|membrane (GO:0016020)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|ion channel binding (GO:0044325)|MHC class II protein complex binding (GO:0023026)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|poly(A) RNA binding (GO:0044822)|potassium channel regulator activity (GO:0015459)|protein heterodimerization activity (GO:0046982)	p.L149R(2)		kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		ATAAGCCACTAGGCTGTTCTC	0.428			T	"""FAM22a, FAM22B"""	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome																														p.L149R			Dom	yes		17	17p13.3	7531	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (14-3-3 epsilon)"""	yes	M	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T446G	17						.						118.0	113.0	114.0					17																	1264518		2203	4300	6503	1211268	SO:0001583	missense	7531	exon4			U54778	CCDS11001.1	17p13.3	2013-12-03	2013-12-03		ENSG00000108953	ENSG00000108953			12851	protein-coding gene	gene with protein product	"""14-3-3 epsilon"""	605066	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"""			9371399	Standard	NM_006761		Approved	FLJ45465	uc002fsj.3	P62258	OTTHUMG00000134316	ENST00000264335.8:c.446T>G	17.37:g.1264518A>C	ENSP00000264335:p.Leu149Arg		1211268	NM_006761	B3KY71|D3DTH5|P29360|P42655|Q4VJB6|Q53XZ5|Q63631|Q7M4R4	Missense_Mutation	SNP	ENST00000264335.8	37	CCDS11001.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.489314	0.84962	.	.	ENSG00000108953	ENST00000264335;ENST00000414131	T	0.46451	0.87	5.39	5.39	0.77823	14-3-3 domain (4);	0.000000	0.64402	U	0.000008	T	0.66167	0.2762	M	0.86268	2.805	0.80722	D	1	D	0.63046	0.992	D	0.66497	0.944	T	0.72513	-0.4270	10	0.87932	D	0	-28.5839	13.4443	0.61131	1.0:0.0:0.0:0.0	.	149	P62258	1433E_HUMAN	R	149;127	ENSP00000264335:L149R	ENSP00000264335:L149R	L	-	2	0	YWHAE	1211268	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.295000	0.78780	2.057000	0.61298	0.529000	0.55759	CTA		0.428	YWHAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259354.3	NM_006761	
CRK	1398	broad.mit.edu	37	17	1340133	1340133	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:1340133G>A	ENST00000300574.2	-	2	698	c.558C>T	c.(556-558)taC>taT	p.Y186Y	CRK_ENST00000574295.1_Intron|CRK_ENST00000572145.1_5'UTR|CRK_ENST00000398970.5_Silent_p.Y186Y	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog	186	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of MAPKK activity (GO:0000186)|blood coagulation (GO:0007596)|ephrin receptor signaling pathway (GO:0048013)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of signal transduction (GO:0009967)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Rho GTPase activity (GO:0032319)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|SH2 domain binding (GO:0042169)	p.Y186Y(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		ACTTCTCGACGTAAGGGACTG	0.572																																					p.Y186Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C558T	17						.						151.0	129.0	136.0					17																	1340133		2203	4300	6503	1286883	SO:0001819	synonymous_variant	1398	exon2			D10656	CCDS11002.1, CCDS45561.1	17p13	2013-07-09	2013-07-09		ENSG00000167193	ENSG00000167193		"""SH2 domain containing"""	2362	protein-coding gene	gene with protein product		164762				1690891	Standard	NM_005206		Approved		uc002fsl.3	P46108	OTTHUMG00000090317	ENST00000300574.2:c.558C>T	17.37:g.1340133G>A			1286883	NM_016823	A8MWE8|B0LPE8|D3DTH6|Q96GA9|Q96HJ0	Silent	SNP	ENST00000300574.2	37	CCDS11002.1																																																																																				0.572	CRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206679.1	NM_016823	
SCARF1	8578	broad.mit.edu	37	17	1551232	1551232	+	5'Flank	SNP	G	G	A	rs368808603		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:1551232G>A	ENST00000263071.4	-	0	0				SCARF1_ENST00000571272.1_5'Flank|RILP_ENST00000301336.6_Missense_Mutation_p.R281W|SCARF1_ENST00000348987.3_5'Flank	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1						cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)	p.R281W(1)		cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCGGGGACCCGGTGGTCTGTG	0.607																																					p.R281W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C841T	17						.	G	TRP/ARG	0,4406		0,0,2203	64.0	53.0	57.0		841	-2.8	1.0	17		57	1,8599	1.2+/-3.3	0,1,4299	no	missense	RILP	NM_031430.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	281/402	1551232	1,13005	2203	4300	6503	1497982	SO:0001631	upstream_gene_variant	83547	exon6			D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"""scavenger receptor expressed by endothelial cells"", ""acetyl LDL receptor"""	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555		17.37:g.1551232G>A	Exception_encountered		1497982	NM_031430	A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	ENST00000263071.4	37	CCDS11007.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.343210	0.82022	0.0	1.16E-4	ENSG00000167705	ENST00000301336	T	0.46819	0.86	5.45	-2.81	0.05805	.	0.187998	0.30464	N	0.009579	T	0.54695	0.1874	L	0.42245	1.32	0.33822	D	0.629157	D	0.89917	1.0	D	0.87578	0.998	T	0.63888	-0.6535	10	0.87932	D	0	1.3531	12.3753	0.55277	0.0:0.1013:0.2367:0.662	.	281	Q96NA2	RILP_HUMAN	W	281	ENSP00000301336:R281W	ENSP00000301336:R281W	R	-	1	2	RILP	1497982	0.000000	0.05858	0.983000	0.44433	0.997000	0.91878	0.161000	0.16481	-0.362000	0.08113	0.655000	0.94253	CGG		0.607	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693	
PRPF8	10594	broad.mit.edu	37	17	1586857	1586857	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:1586857T>C	ENST00000572621.1	-	2	504	c.239A>G	c.(238-240)aAg>aGg	p.K80R	PRPF8_ENST00000304992.6_Missense_Mutation_p.K80R			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	80					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)	p.K80R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ATGGCGGAACTTCCTGTTGGT	0.473																																					p.K80R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A239G	17						.						202.0	175.0	184.0					17																	1586857		2203	4300	6503	1533607	SO:0001583	missense	10594	exon3			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.239A>G	17.37:g.1586857T>C	ENSP00000460348:p.Lys80Arg		1533607	NM_006445	O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.163228	0.78226	.	.	ENSG00000174231	ENST00000304992	T	0.45668	0.89	5.19	5.19	0.71726	Pre-mRNA-processing-splicing factor 8 (2);	0.000000	0.85682	D	0.000000	T	0.37293	0.0998	L	0.37697	1.125	0.80722	D	1	B	0.19817	0.039	B	0.29785	0.107	T	0.14062	-1.0486	10	0.26408	T	0.33	.	15.0448	0.71819	0.0:0.0:0.0:1.0	.	80	Q6P2Q9	PRP8_HUMAN	R	80	ENSP00000304350:K80R	ENSP00000304350:K80R	K	-	2	0	PRPF8	1533607	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.466000	0.80914	1.955000	0.56771	0.383000	0.25322	AAG		0.473	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2		
DNAH9	1770	broad.mit.edu	37	17	11778363	11778363	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:11778363G>A	ENST00000262442.4	+	53	10408	c.10340G>A	c.(10339-10341)cGc>cAc	p.R3447H	DNAH9_ENST00000454412.2_Missense_Mutation_p.R3447H|RP11-628O18.1_ENST00000579621.1_RNA	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3447	AAA 5. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.R3447H(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCAGCCGACCGCATGTCCGTG	0.557																																					p.R3447H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G10340A	17						.						99.0	88.0	91.0					17																	11778363		2203	4300	6503	11719088	SO:0001583	missense	1770	exon53			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.10340G>A	17.37:g.11778363G>A	ENSP00000262442:p.Arg3447His		11719088	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.776966	0.90195	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.33654	1.4;1.4	4.51	4.51	0.55191	.	0.060422	0.64402	D	0.000005	T	0.68265	0.2982	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.77555	-0.2544	10	0.72032	D	0.01	.	17.4107	0.87485	0.0:0.0:1.0:0.0	.	3447	Q9NYC9	DYH9_HUMAN	H	3447;3447;2029	ENSP00000262442:R3447H;ENSP00000414874:R3447H	ENSP00000262442:R3447H	R	+	2	0	DNAH9	11719088	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.396000	0.66297	2.357000	0.79964	0.655000	0.94253	CGC		0.557	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
MPRIP	23164	broad.mit.edu	37	17	16981338	16981338	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:16981338G>A	ENST00000341712.4	+	3	215	c.215G>A	c.(214-216)cGg>cAg	p.R72Q	MPRIP_ENST00000395804.3_Missense_Mutation_p.R72Q|MPRIP_ENST00000395811.5_Missense_Mutation_p.R72Q|MPRIP_ENST00000395807.2_3'UTR|MPRIP-AS1_ENST00000428367.2_RNA|MPRIP_ENST00000444976.1_Missense_Mutation_p.R72Q			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	72	Interaction with F-actin. {ECO:0000250}.|PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)		p.R72Q(1)		biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TGGCAGCGACGGTTCTTCATC	0.577																																					p.R72Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G215A	17						.						205.0	164.0	178.0					17																	16981338		2203	4300	6503	16922063	SO:0001583	missense	23164	exon3			BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.215G>A	17.37:g.16981338G>A	ENSP00000342379:p.Arg72Gln		16922063	NM_015134	Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Missense_Mutation	SNP	ENST00000341712.4	37	CCDS32578.1	.	.	.	.	.	.	.	.	.	.	G	34	5.378362	0.95945	.	.	ENSG00000133030	ENST00000444976;ENST00000395807;ENST00000395811;ENST00000395804;ENST00000341712	D;D;D;D	0.96856	-4.15;-4.15;-4.15;-4.15	5.22	5.22	0.72569	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.	.	.	.	D	0.98112	0.9377	M	0.83774	2.66	0.52501	D	0.999959	D;D	0.89917	0.999;1.0	D;D	0.91635	0.99;0.999	D	0.98894	1.0774	9	0.87932	D	0	.	16.6578	0.85233	0.0:0.0:1.0:0.0	.	72;72	Q6WCQ1-2;Q6WCQ1	.;MPRIP_HUMAN	Q	72	ENSP00000400189:R72Q;ENSP00000379156:R72Q;ENSP00000379149:R72Q;ENSP00000342379:R72Q	ENSP00000342379:R72Q	R	+	2	0	MPRIP	16922063	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.021000	0.88750	2.620000	0.88729	0.655000	0.94253	CGG		0.577	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134	
RAI1	10743	broad.mit.edu	37	17	17697166	17697166	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:17697166A>C	ENST00000353383.1	+	3	1373	c.904A>C	c.(904-906)Acc>Ccc	p.T302P	RAI1_ENST00000261641.6_Missense_Mutation_p.T302P	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	302	Gln-rich.				circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)	p.T302P(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TGCCCAGGAAACCCTCCATTA	0.632																																					p.T302P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A904C	17						.						41.0	48.0	46.0					17																	17697166		2202	4299	6501	17637891	SO:0001583	missense	10743	exon3			AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.904A>C	17.37:g.17697166A>C	ENSP00000323074:p.Thr302Pro		17637891	NM_030665	Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	A	11.37	1.619286	0.28801	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.36520	1.25;1.25;1.25	5.37	3.09	0.35607	.	0.231906	0.36665	N	0.002473	T	0.29423	0.0733	L	0.55481	1.735	0.27705	N	0.945641	B	0.17465	0.022	B	0.15052	0.012	T	0.25984	-1.0116	10	0.52906	T	0.07	.	5.0742	0.14622	0.7168:0.0:0.148:0.1352	.	302	Q7Z5J4	RAI1_HUMAN	P	302;302;302;302;302;279	ENSP00000323074:T302P;ENSP00000379120:T302P;ENSP00000261641:T302P	ENSP00000261641:T302P	T	+	1	0	RAI1	17637891	0.555000	0.26530	0.998000	0.56505	0.993000	0.82548	1.362000	0.34148	0.327000	0.23409	0.459000	0.35465	ACC		0.632	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665	
RTN4RL1	146760	broad.mit.edu	37	17	1840329	1840329	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:1840329C>T	ENST00000331238.6	-	2	1266	c.787G>A	c.(787-789)Gcg>Acg	p.A263T		NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1									p.A263T(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						AGGGAGCGCGCGCGACAACCA	0.692																																					p.A263T	GBM(68;949 1139 14865 32798 38342)											.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G787A	17						.						15.0	18.0	17.0					17																	1840329		1976	4140	6116	1787079	SO:0001583	missense	146760	exon2			AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924			21329	protein-coding gene	gene with protein product	"""nogo-66 receptor homolog 2"""	610461					Standard	NM_178568		Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.787G>A	17.37:g.1840329C>T	ENSP00000330631:p.Ala263Thr		1787079	NM_178568		Missense_Mutation	SNP	ENST00000331238.6	37	CCDS45569.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027125	0.75390	.	.	ENSG00000185924	ENST00000331238	T	0.02446	4.29	4.94	4.94	0.65067	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.39020	N	0.001484	T	0.10981	0.0268	M	0.79011	2.435	0.58432	D	0.999998	D	0.57257	0.979	P	0.52627	0.704	T	0.03969	-1.0988	10	0.37606	T	0.19	.	18.4203	0.90588	0.0:1.0:0.0:0.0	.	263	Q86UN2	R4RL1_HUMAN	T	263	ENSP00000330631:A263T	ENSP00000330631:A263T	A	-	1	0	RTN4RL1	1787079	1.000000	0.71417	0.624000	0.29186	0.800000	0.45204	4.755000	0.62198	2.584000	0.87258	0.644000	0.83932	GCG		0.692	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450155.2	NM_178568	
RAI1	10743	broad.mit.edu	37	17	17697469	17697469	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:17697469G>A	ENST00000353383.1	+	3	1676	c.1207G>A	c.(1207-1209)Gcc>Acc	p.A403T	RAI1_ENST00000261641.6_Missense_Mutation_p.A403T	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	403					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)	p.A403T(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CCCAACGGATGCCACCAGCTC	0.627																																					p.A403T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1207A	17						.						106.0	106.0	106.0					17																	17697469		2203	4300	6503	17638194	SO:0001583	missense	10743	exon3			AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.1207G>A	17.37:g.17697469G>A	ENSP00000323074:p.Ala403Thr		17638194	NM_030665	Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.434711	0.62955	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.27256	1.68;1.68;1.68	5.55	5.55	0.83447	.	0.225320	0.39687	N	0.001288	T	0.22666	0.0547	L	0.47716	1.5	0.37033	D	0.896798	B	0.29988	0.264	B	0.21917	0.037	T	0.09729	-1.0661	10	0.40728	T	0.16	.	12.8004	0.57582	0.0751:0.0:0.9248:0.0	.	403	Q7Z5J4	RAI1_HUMAN	T	403;403;403;403;403;380	ENSP00000323074:A403T;ENSP00000379120:A403T;ENSP00000261641:A403T	ENSP00000261641:A403T	A	+	1	0	RAI1	17638194	0.949000	0.32298	0.222000	0.23844	0.533000	0.34776	2.373000	0.44266	2.621000	0.88768	0.561000	0.74099	GCC		0.627	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665	
LLGL1	3996	broad.mit.edu	37	17	18138227	18138227	+	Missense_Mutation	SNP	G	G	A	rs150688696		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:18138227G>A	ENST00000316843.4	+	9	1076	c.980G>A	c.(979-981)cGa>cAa	p.R327Q		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	327					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)	p.R327Q(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					AGTGTGCTTCGAGCCGAGACA	0.602																																					p.R327Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G980A	17						.	G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	86.0	62.0	70.0		980	0.7	0.7	17	dbSNP_134	70	0,8600		0,0,4300	no	missense	LLGL1	NM_004140.3	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	327/1065	18138227	1,13005	2203	4300	6503	18078952	SO:0001583	missense	3996	exon9				CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.980G>A	17.37:g.18138227G>A	ENSP00000321537:p.Arg327Gln		18078952	NM_004140	A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	ENST00000316843.4	37	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	G	6.214	0.407661	0.11754	2.27E-4	0.0	ENSG00000131899	ENST00000316843	T	0.04454	3.62	5.42	0.667	0.17907	WD40 repeat-like-containing domain (1);Lethal giant larvae homologue 2 (1);	0.231115	0.44902	N	0.000415	T	0.01156	0.0038	N	0.00621	-1.32	0.37656	D	0.922587	B	0.06786	0.001	B	0.08055	0.003	T	0.47275	-0.9130	10	0.06365	T	0.9	-4.9974	6.9892	0.24745	0.6408:0.0:0.3592:0.0	.	327	Q15334	L2GL1_HUMAN	Q	327	ENSP00000321537:R327Q	ENSP00000321537:R327Q	R	+	2	0	LLGL1	18078952	1.000000	0.71417	0.690000	0.30148	0.726000	0.41606	3.222000	0.51223	0.267000	0.21916	0.644000	0.83932	CGA		0.602	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3		
FBXW10	10517	broad.mit.edu	37	17	18682393	18682393	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:18682393G>T	ENST00000395665.4	+	14	3162	c.2941G>T	c.(2941-2943)Gtg>Ttg	p.V981L	TVP23B_ENST00000307767.8_5'Flank|FBXW10_ENST00000301938.4_Missense_Mutation_p.V928L|FBXW10_ENST00000395667.1_Missense_Mutation_p.V980L|FBXW10_ENST00000308799.4_Missense_Mutation_p.V990L|TVP23B_ENST00000476139.1_5'Flank|TVP23B_ENST00000574226.1_5'Flank			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	981										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TCCTTTTAGAGTGAACACTGA	0.512																																					p.V980L												.	.	0			c.G2938T	17						.						56.0	51.0	53.0					17																	18682393		2045	3932	5977	18623118	SO:0001583	missense	10517	exon14			BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.2941G>T	17.37:g.18682393G>T	ENSP00000379025:p.Val981Leu		18623118	NM_031456	C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	G	0.544	-0.852307	0.02651	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	3.38	-3.21	0.05140	.	0.571100	0.12999	U	0.421819	T	0.66307	0.2776	L	0.46157	1.445	0.09310	N	1	B;B;B;B	0.20052	0.017;0.041;0.01;0.041	B;B;B;B	0.17433	0.018;0.018;0.008;0.018	T	0.53222	-0.8469	10	0.34782	T	0.22	.	10.0074	0.41965	0.3813:0.0:0.6187:0.0	.	928;990;981;980	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	L	980;990;928;981	ENSP00000379026:V980L;ENSP00000310382:V990L;ENSP00000306937:V928L;ENSP00000379025:V981L	ENSP00000306937:V928L	V	+	1	0	FBXW10	18623118	0.000000	0.05858	0.069000	0.20011	0.091000	0.18340	-1.391000	0.02525	-0.512000	0.06505	-0.474000	0.04947	GTG		0.512	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456	
SMG6	23293	broad.mit.edu	37	17	2202224	2202224	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:2202224C>T	ENST00000263073.6	-	2	1873	c.1823G>A	c.(1822-1824)gGc>gAc	p.G608D	SMG6_ENST00000544865.1_Missense_Mutation_p.G577D	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	608					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)	p.G608D(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTTCTCCAGGCCCTCCGGACT	0.577																																					p.G577D	Melanoma(59;28 1088 11621 25887 46638 50814)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1730A	17						.						155.0	156.0	155.0					17																	2202224		2203	4300	6503	2148974	SO:0001583	missense	23293	exon2			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.1823G>A	17.37:g.2202224C>T	ENSP00000263073:p.Gly608Asp		2148974	NM_001170957	B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	37	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880194	0.72294	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.17370	2.28;2.28	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.31040	0.0784	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.02450	-1.1157	10	0.15952	T	0.53	-9.0055	19.1579	0.93518	0.0:1.0:0.0:0.0	.	608	Q86US8	EST1A_HUMAN	D	608;577	ENSP00000263073:G608D;ENSP00000443920:G577D	ENSP00000263073:G608D	G	-	2	0	SMG6	2148974	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.398000	0.79919	2.590000	0.87494	0.650000	0.86243	GGC		0.577	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3		
MNT	4335	broad.mit.edu	37	17	2290939	2290939	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:2290939A>G	ENST00000174618.4	-	6	1410	c.1005T>C	c.(1003-1005)ggT>ggC	p.G335G	RP1-59D14.1_ENST00000571775.1_RNA|MNT_ENST00000575374.1_5'UTR	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	335					cell aging (GO:0007569)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cell cycle (GO:0051726)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.G335G(1)		endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		TGTTGTCCTCACCCTCTGTGG	0.652																																					p.G335G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1005C	17						.						104.0	114.0	110.0					17																	2290939		2184	4263	6447	2237689	SO:0001819	synonymous_variant	4335	exon6			Y13444	CCDS11018.1	17p13.3	2013-11-15	2013-11-15		ENSG00000070444	ENSG00000070444		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	7188	protein-coding gene	gene with protein product	"""myc antagonist"", ""Max-interacting protein"""	603039	"""MAX binding protein"", ""MNT, MAX dimerization protein"""			9598315	Standard	NM_020310		Approved	ROX, MXD6, MAD6, bHLHd3	uc002fur.3	Q99583	OTTHUMG00000090603	ENST00000174618.4:c.1005T>C	17.37:g.2290939A>G			2237689	NM_020310	A8K6D1|D3DTI7|Q1ED38	Silent	SNP	ENST00000174618.4	37	CCDS11018.1																																																																																				0.652	MNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207158.1	NM_020310	
SPECC1	92521	broad.mit.edu	37	17	20149379	20149379	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:20149379G>A	ENST00000261503.5	+	8	2543	c.2492G>A	c.(2491-2493)cGc>cAc	p.R831H	SPECC1_ENST00000536879.1_Missense_Mutation_p.R171H|SPECC1_ENST00000395530.2_Missense_Mutation_p.R750H|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395527.4_Missense_Mutation_p.R831H	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	831				R -> G (in Ref. 2; AAW30000/AAW30002). {ECO:0000305}.	cell adhesion (GO:0007155)	nucleus (GO:0005634)		p.R831H(1)		breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		GACTTGGGACGCCCAGGTATT	0.473																																					p.R750H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2249A	17						.						57.0	55.0	56.0					17																	20149379		2203	4300	6503	20089971	SO:0001583	missense	92521	exon6			AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.2492G>A	17.37:g.20149379G>A	ENSP00000261503:p.Arg831His		20089971	NM_001033555	B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	ENST00000261503.5	37	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	G	9.779	1.174738	0.21704	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000536879;ENST00000395527	T;T	0.42900	0.96;0.96	4.5	-3.06	0.05379	.	1.252710	0.04892	N	0.449719	T	0.23370	0.0565	N	0.08118	0	0.09310	N	0.999999	B;B;B	0.11235	0.001;0.004;0.001	B;B;B	0.04013	0.0;0.001;0.001	T	0.27706	-1.0066	10	0.46703	T	0.11	-2.3997	9.2985	0.37831	0.634:0.0:0.366:0.0	.	831;750;831	A8MV89;Q5M775-4;Q5M775	.;.;CYTSB_HUMAN	H	831;831;171;750	ENSP00000261503:R831H;ENSP00000438294:R171H	ENSP00000261503:R831H	R	+	2	0	SPECC1	20089971	0.375000	0.25089	0.116000	0.21606	0.728000	0.41692	0.330000	0.19715	-0.625000	0.05604	0.461000	0.40582	CGC		0.473	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904	
PIGS	94005	broad.mit.edu	37	17	26890484	26890484	+	Missense_Mutation	SNP	A	A	G	rs372383165		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:26890484A>G	ENST00000308360.7	-	5	808	c.433T>C	c.(433-435)Tac>Cac	p.Y145H	PIGS_ENST00000465444.1_5'UTR|PIGS_ENST00000543734.1_Missense_Mutation_p.Y84H|PIGS_ENST00000395346.2_Missense_Mutation_p.Y137H	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	145					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)	p.Y145H(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					GATATCACGTACACAGTCAGG	0.537																																					p.Y145H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T433C	17						.	A	HIS/TYR	0,4406		0,0,2203	156.0	125.0	135.0		433	4.9	1.0	17		135	1,8599	1.2+/-3.3	0,1,4299	no	missense	PIGS	NM_033198.3	83	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging	145/556	26890484	1,13005	2203	4300	6503	23914611	SO:0001583	missense	94005	exon5				CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"""Phosphatidylinositol glycan anchor biosynthesis"""	14937	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610271	"""phosphatidylinositol glycan, class S"""				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.433T>C	17.37:g.26890484A>G	ENSP00000309430:p.Tyr145His		23914611	NM_033198	Q6UVX6	Missense_Mutation	SNP	ENST00000308360.7	37	CCDS11235.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.462159	0.84425	0.0	1.16E-4	ENSG00000087111	ENST00000395346;ENST00000308360;ENST00000543734	T;T;T	0.43688	0.94;0.94;0.94	4.93	4.93	0.64822	.	0.169754	0.53938	D	0.000048	T	0.57403	0.2051	M	0.67953	2.075	0.53005	D	0.999969	D;D	0.59767	0.986;0.983	D;P	0.63488	0.915;0.862	T	0.54443	-0.8293	10	0.22706	T	0.39	-5.0491	13.4359	0.61084	1.0:0.0:0.0:0.0	.	145;137	Q96S52;Q96S52-2	PIGS_HUMAN;.	H	137;145;84	ENSP00000378755:Y137H;ENSP00000309430:Y145H;ENSP00000438447:Y84H	ENSP00000309430:Y145H	Y	-	1	0	PIGS	23914611	1.000000	0.71417	0.986000	0.45419	0.652000	0.38707	7.544000	0.82117	1.973000	0.57446	0.383000	0.25322	TAC		0.537	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255833.3	NM_033198	
ERAL1	26284	broad.mit.edu	37	17	27185813	27185813	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:27185813C>A	ENST00000254928.5	+	7	1028	c.931C>A	c.(931-933)Cta>Ata	p.L311I	MIR144_ENST00000384886.1_lincRNA|MIR144_ENST00000581873.1_lincRNA|MIR144_ENST00000385059.1_lincRNA	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	311	Era-type G.				ribosomal small subunit assembly (GO:0000028)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)	p.L311I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			GTTGTCAGCCCTAAGCCAGGA	0.507																																					p.L311I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C931A	17						.						134.0	137.0	136.0					17																	27185813		2203	4300	6503	24209939	SO:0001583	missense	26284	exon7			AF082657	CCDS11244.1	17q11.2	2013-05-22	2013-05-22		ENSG00000132591	ENSG00000132591			3424	protein-coding gene	gene with protein product		607435	"""Era (E. coli G-protein homolog)-like 1"", ""Era G-protein-like 1 (E. coli)"""			10945472, 20604745	Standard	NM_005702		Approved	HERA-B	uc002hcy.1	O75616	OTTHUMG00000132675	ENST00000254928.5:c.931C>A	17.37:g.27185813C>A	ENSP00000254928:p.Leu311Ile		24209939	NM_005702	B3KN21|C9JEC6|O75617|Q8WUY4|Q96LE2|Q96TC0	Missense_Mutation	SNP	ENST00000254928.5	37	CCDS11244.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.646997	0.47258	.	.	ENSG00000132591	ENST00000254928	D	0.96104	-3.91	6.08	5.09	0.68999	.	0.225469	0.40728	N	0.001039	D	0.93543	0.7939	M	0.79475	2.455	0.51233	D	0.999916	P	0.49862	0.929	B	0.39299	0.296	D	0.92184	0.5754	10	0.51188	T	0.08	-4.1933	8.1266	0.31003	0.0:0.7542:0.1573:0.0885	.	311	O75616	ERAL1_HUMAN	I	311	ENSP00000254928:L311I	ENSP00000254928:L311I	L	+	1	2	ERAL1	24209939	0.974000	0.33945	1.000000	0.80357	0.996000	0.88848	1.593000	0.36686	1.487000	0.48415	0.655000	0.94253	CTA		0.507	ERAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255937.2		
CPD	1362	broad.mit.edu	37	17	28749774	28749774	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:28749774A>G	ENST00000225719.4	+	5	1466	c.1390A>G	c.(1390-1392)Act>Gct	p.T464A	CPD_ENST00000543464.2_Missense_Mutation_p.T217A	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	464	Carboxypeptidase-like 1.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)	p.T464A(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						GCCAACTGTAACTTCAGTAAT	0.408																																					p.T217A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A649G	17						.						84.0	78.0	80.0					17																	28749774		2203	4300	6503	25773900	SO:0001583	missense	1362	exon5			U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.1390A>G	17.37:g.28749774A>G	ENSP00000225719:p.Thr464Ala		25773900	NM_001199775	B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Missense_Mutation	SNP	ENST00000225719.4	37	CCDS11257.1	.	.	.	.	.	.	.	.	.	.	A	9.042	0.989842	0.18966	.	.	ENSG00000108582	ENST00000225719;ENST00000543464	T;T	0.13657	2.57;2.57	5.54	-5.62	0.02481	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase, regulatory domain (1);	0.915484	0.09556	N	0.786319	T	0.06781	0.0173	L	0.27053	0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.46289	-0.9202	10	0.08837	T	0.75	.	8.5149	0.33239	0.4145:0.0:0.4764:0.109	.	217;464	F5GZH6;O75976	.;CBPD_HUMAN	A	464;217	ENSP00000225719:T464A;ENSP00000444443:T217A	ENSP00000225719:T464A	T	+	1	0	CPD	25773900	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.284000	0.08422	-0.943000	0.03691	0.528000	0.53228	ACT		0.408	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304	
GOSR1	9527	broad.mit.edu	37	17	28817222	28817222	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:28817222C>T	ENST00000225724.5	+	5	499	c.427C>T	c.(427-429)Cga>Tga	p.R143*	GOSR1_ENST00000451249.2_Nonsense_Mutation_p.R141*|GOSR1_ENST00000581721.1_Nonsense_Mutation_p.R143*|GOSR1_ENST00000467337.2_Nonsense_Mutation_p.R78*	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1	143					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)	p.R143*(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						GGGATCAGTACGAAAAGATAT	0.313																																					p.R78X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C232T	17						.						78.0	72.0	74.0					17																	28817222		2203	4299	6502	25841348	SO:0001587	stop_gained	9527	exon5			AF047438	CCDS11258.1, CCDS45643.1, CCDS45644.1	17q11	2011-04-15			ENSG00000108587	ENSG00000108587			4430	protein-coding gene	gene with protein product	"""golgi integral membrane protein 2"""	604026				8638159, 9653160, 15004235	Standard	XM_005258072		Approved	GOS28, P28, GS28, GOS-28, GOLIM2	uc002hfe.3	O95249	OTTHUMG00000132796	ENST00000225724.5:c.427C>T	17.37:g.28817222C>T	ENSP00000225724:p.Arg143*		25841348	NM_001007024	J3KST5|O75392	Nonsense_Mutation	SNP	ENST00000225724.5	37	CCDS11258.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.278231	0.59758	.	.	ENSG00000108587	ENST00000225724;ENST00000451249;ENST00000414833;ENST00000427274	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.9771	18.2606	0.90034	0.0:1.0:0.0:0.0	.	.	.	.	X	143;141;78;141	.	ENSP00000225724:R143X	R	+	1	2	GOSR1	25841348	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.580000	0.53907	2.658000	0.90341	0.563000	0.77884	CGA		0.313	GOSR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256208.2		
C17orf102	400591	broad.mit.edu	37	17	32904585	32904585	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:32904585C>T	ENST00000357754.1	-	2	553	c.465G>A	c.(463-465)agG>agA	p.R155R		NM_207454.2	NP_997337.2	A2RUQ5	CQ102_HUMAN	chromosome 17 open reading frame 102	155			R -> K (in dbSNP:rs887230). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.					p.R155R(1)		central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						ctggttttgtcctgctcactg	0.473																																					p.R155R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G465A	17						.						119.0	114.0	115.0					17																	32904585		2025	4200	6225	29928698	SO:0001819	synonymous_variant	400591	exon2				CCDS42297.1	17q12	2009-02-11			ENSG00000197322	ENSG00000197322			34412	protein-coding gene	gene with protein product							Standard	NM_207454		Approved	FLJ44815	uc002hie.1	A2RUQ5	OTTHUMG00000156883	ENST00000357754.1:c.465G>A	17.37:g.32904585C>T			29928698	NM_207454	A5PKX0|Q6ZTB3	Silent	SNP	ENST00000357754.1	37	CCDS42297.1																																																																																				0.473	C17orf102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346435.1	NM_207454	
TMEM132E	124842	broad.mit.edu	37	17	32956062	32956062	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:32956062C>T	ENST00000321639.5	+	5	1235	c.907C>T	c.(907-909)Ctg>Ttg	p.L303L		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	303						integral component of membrane (GO:0016021)		p.L303L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GATCTTGCAGCTGGACTTTGA	0.612																																					p.L303L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C907T	17						.						83.0	83.0	83.0					17																	32956062		2203	4300	6503	29980175	SO:0001819	synonymous_variant	124842	exon5			BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.907C>T	17.37:g.32956062C>T			29980175	NM_207313	Q8WUF4|Q8WVA5	Silent	SNP	ENST00000321639.5	37	CCDS11283.1																																																																																				0.612	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313	
LIG3	3980	broad.mit.edu	37	17	33324842	33324842	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:33324842A>G	ENST00000378526.4	+	12	2042	c.1909A>G	c.(1909-1911)Aca>Gca	p.T637A	LIG3_ENST00000262327.5_Missense_Mutation_p.T637A	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	637					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)	p.T637A(1)|p.T550A(1)		endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	GAAGCGAGTCACAGTAAGTGA	0.458								Other BER factors																													p.T637A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1909G	17						.						80.0	72.0	75.0					17																	33324842		2203	4300	6503	30348955	SO:0001583	missense	3980	exon12				CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"""ligase II, DNA, ATP-dependent"""	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.1909A>G	17.37:g.33324842A>G	ENSP00000367787:p.Thr637Ala		30348955	NM_013975	Q16714|Q6NVK3	Missense_Mutation	SNP	ENST00000378526.4	37	CCDS11284.2	.	.	.	.	.	.	.	.	.	.	A	10.19	1.280961	0.23392	.	.	ENSG00000005156	ENST00000378526;ENST00000262327	T;T	0.80824	-1.42;-1.42	5.91	2.28	0.28536	DNA ligase, ATP-dependent, central (2);	0.207411	0.49916	N	0.000128	T	0.66458	0.2791	L	0.38175	1.15	0.44579	D	0.997544	B;B	0.13594	0.008;0.008	B;B	0.16722	0.016;0.016	T	0.51764	-0.8664	10	0.15952	T	0.53	-1.3808	6.5965	0.22677	0.6954:0.0:0.0662:0.2384	.	637;637	P49916;E5KLB6	DNLI3_HUMAN;.	A	637	ENSP00000367787:T637A;ENSP00000262327:T637A	ENSP00000262327:T637A	T	+	1	0	LIG3	30348955	1.000000	0.71417	0.790000	0.31976	0.853000	0.48598	4.288000	0.59007	0.453000	0.26858	0.533000	0.62120	ACA		0.458	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250330.3	NM_013975	
OR1A2	26189	broad.mit.edu	37	17	3101230	3101230	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:3101230T>G	ENST00000381951.1	+	1	418	c.418T>G	c.(418-420)Tct>Gct	p.S140A		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	140					positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S140A(1)		breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						GAGTCCACGGTCTTGTATCCT	0.517																																					p.S140A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T418G	17						.						161.0	138.0	146.0					17																	3101230		2203	4300	6503	3047980	SO:0001583	missense	26189	exon1			AF155225	CCDS11021.1	17p13.3	2012-08-09			ENSG00000172150	ENSG00000172150		"""GPCR / Class A : Olfactory receptors"""	8180	protein-coding gene	gene with protein product						10673334	Standard	NM_012352		Approved	OR17-6	uc002fvd.1	Q9Y585	OTTHUMG00000090638	ENST00000381951.1:c.418T>G	17.37:g.3101230T>G	ENSP00000371377:p.Ser140Ala		3047980	NM_012352	Q3KPH3|Q6IFM0|Q6NTD8|Q96R86	Missense_Mutation	SNP	ENST00000381951.1	37	CCDS11021.1	.	.	.	.	.	.	.	.	.	.	T	5.609	0.297174	0.10622	.	.	ENSG00000172150	ENST00000381951	T	0.00036	8.86	4.09	-3.81	0.04294	GPCR, rhodopsin-like superfamily (1);	1.284530	0.05264	N	0.516302	T	0.00073	0.0002	N	0.01761	-0.735	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.25012	-1.0144	10	0.72032	D	0.01	.	1.1651	0.01813	0.133:0.2314:0.2144:0.4212	.	140	Q9Y585	OR1A2_HUMAN	A	140	ENSP00000371377:S140A	ENSP00000371377:S140A	S	+	1	0	OR1A2	3047980	0.000000	0.05858	0.000000	0.03702	0.243000	0.25628	-3.652000	0.00403	-0.610000	0.05716	0.491000	0.48974	TCT		0.517	OR1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207293.1	NM_012352	
FNDC8	54752	broad.mit.edu	37	17	33454355	33454355	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:33454355G>A	ENST00000158009.5	+	2	619	c.504G>A	c.(502-504)acG>acA	p.T168T		NM_017559.2	NP_060029.1	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8	168						nucleus (GO:0005634)		p.T168T(1)		breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		CCTCCTCAACGCACTCAGAAT	0.582																																					p.T168T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G504A	17						.						107.0	104.0	105.0					17																	33454355		2203	4300	6503	30478468	SO:0001819	synonymous_variant	54752	exon2			BC024002	CCDS11290.1	17q12	2013-02-11			ENSG00000073598	ENSG00000073598		"""Fibronectin type III domain containing"""	25286	protein-coding gene	gene with protein product						12477932	Standard	XM_005257993		Approved	DKFZp434H2215	uc002hix.3	Q8TC99	OTTHUMG00000132932	ENST00000158009.5:c.504G>A	17.37:g.33454355G>A			30478468	NM_017559	B2R9G6|Q9UFC2	Silent	SNP	ENST00000158009.5	37	CCDS11290.1																																																																																				0.582	FNDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256459.2	NM_017559	
AP2B1	163	broad.mit.edu	37	17	33935358	33935358	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:33935358G>T	ENST00000262325.7	+	5	1030	c.477G>T	c.(475-477)caG>caT	p.Q159H	AP2B1_ENST00000589344.1_Missense_Mutation_p.Q159H|AP2B1_ENST00000537622.2_Missense_Mutation_p.Q159H|AP2B1_ENST00000592545.1_Missense_Mutation_p.Q121H|AP2B1_ENST00000312678.8_Missense_Mutation_p.Q159H|AP2B1_ENST00000538556.1_Missense_Mutation_p.Q102H	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	159					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)	p.Q159H(1)		NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TGGAAGATCAGGGATTTCTGG	0.433																																					p.Q159H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G477T	17						.						108.0	112.0	111.0					17																	33935358		2203	4300	6503	30959471	SO:0001583	missense	163	exon5			M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.477G>T	17.37:g.33935358G>T	ENSP00000262325:p.Gln159His		30959471	NM_001282	A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	ENST00000262325.7	37	CCDS32622.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.334071	0.41297	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622	T;T;T;T	0.27256	1.68;1.68;1.68;1.68	5.41	0.686	0.18015	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.050259	0.85682	D	0.000000	T	0.26991	0.0661	L	0.50847	1.595	0.80722	D	1	P;B;B	0.38167	0.621;0.002;0.001	P;B;B	0.44897	0.463;0.005;0.002	T	0.03483	-1.1032	10	0.45353	T	0.12	-4.9257	9.2371	0.37473	0.4217:0.0:0.5783:0.0	.	121;159;159	B4DWG4;P63010;P63010-2	.;AP2B1_HUMAN;.	H	159;159;102;159	ENSP00000262325:Q159H;ENSP00000314414:Q159H;ENSP00000440563:Q102H;ENSP00000437413:Q159H	ENSP00000262325:Q159H	Q	+	3	2	AP2B1	30959471	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.036000	0.30228	0.285000	0.22329	0.650000	0.86243	CAG		0.433	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1		
ACACA	31	broad.mit.edu	37	17	35597442	35597442	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:35597442A>G	ENST00000394406.2	-	24	3150	c.2960T>C	c.(2959-2961)gTg>gCg	p.V987A	ACACA_ENST00000360679.3_Missense_Mutation_p.V929A|ACACA_ENST00000335166.5_Missense_Mutation_p.V909A|ACACA_ENST00000353139.5_Missense_Mutation_p.V1024A	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	987					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.V1024A(1)|p.V929A(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CAGATCCATCACCACAGCCTT	0.468																																					p.V1024A	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T3071C	17						.						97.0	81.0	86.0					17																	35597442		2203	4300	6503	32671555	SO:0001583	missense	31	exon24			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.2960T>C	17.37:g.35597442A>G	ENSP00000377928:p.Val987Ala		32671555	NM_198834	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.095206	0.76870	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.37	5.37	0.77165	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	T	0.72740	0.3498	M	0.77406	2.37	0.80722	D	1	D;P;P	0.89917	1.0;0.883;0.858	D;P;P	0.91635	0.999;0.665;0.535	T	0.76099	-0.3083	10	0.62326	D	0.03	-16.466	14.7123	0.69241	1.0:0.0:0.0:0.0	.	1024;987;929	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	A	1024;929;987;1011;909	ENSP00000344789:V1024A;ENSP00000353898:V929A;ENSP00000377928:V987A;ENSP00000335323:V909A	ENSP00000335323:V909A	V	-	2	0	ACACA	32671555	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.139000	0.94554	2.254000	0.74563	0.460000	0.39030	GTG		0.468	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836	
GPR179	440435	broad.mit.edu	37	17	36482718	36482718	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:36482718T>C	ENST00000342292.4	-	11	6754	c.6734A>G	c.(6733-6735)gAg>gGg	p.E2245G	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2245					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E2245G(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCCAGTTTCCTCCCCAGGACA	0.493																																					p.E2245G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A6734G	17						.						98.0	96.0	96.0					17																	36482718		1890	4114	6004	33736244	SO:0001583	missense	440435	exon11				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.6734A>G	17.37:g.36482718T>C	ENSP00000345060:p.Glu2245Gly		33736244	NM_001004334		Missense_Mutation	SNP	ENST00000342292.4	37	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.329144	0.81690	.	.	ENSG00000188888	ENST00000342292	T	0.59364	0.27	5.0	5.0	0.66597	.	0.171002	0.28052	N	0.016783	T	0.68513	0.3009	M	0.71581	2.175	0.41118	D	0.985796	D	0.55172	0.97	P	0.54346	0.749	T	0.74041	-0.3792	10	0.87932	D	0	-13.6281	13.8272	0.63357	0.0:0.0:0.0:1.0	.	2245	Q6PRD1	GP179_HUMAN	G	2245	ENSP00000345060:E2245G	ENSP00000345060:E2245G	E	-	2	0	GPR179	33736244	0.995000	0.38212	0.992000	0.48379	0.847000	0.48162	2.537000	0.45702	2.099000	0.63709	0.377000	0.23210	GAG		0.493	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2		
GPR179	440435	broad.mit.edu	37	17	36483418	36483418	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:36483418T>C	ENST00000342292.4	-	11	6054	c.6034A>G	c.(6034-6036)Agc>Ggc	p.S2012G	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2012					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S2012G(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTGGCACTGCTGTCAGATTTA	0.547																																					p.S2012G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A6034G	17						.						80.0	77.0	78.0					17																	36483418		2013	4184	6197	33736944	SO:0001583	missense	440435	exon11				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.6034A>G	17.37:g.36483418T>C	ENSP00000345060:p.Ser2012Gly		33736944	NM_001004334		Missense_Mutation	SNP	ENST00000342292.4	37	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	T	11.07	1.531321	0.27387	.	.	ENSG00000188888	ENST00000342292	T	0.54279	0.58	4.88	-2.16	0.07080	.	0.831707	0.10568	N	0.659423	T	0.31199	0.0789	L	0.31926	0.97	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18053	-1.0349	10	0.22109	T	0.4	0.1272	1.615	0.02701	0.1247:0.1539:0.257:0.4644	.	2012	Q6PRD1	GP179_HUMAN	G	2012	ENSP00000345060:S2012G	ENSP00000345060:S2012G	S	-	1	0	GPR179	33736944	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.570000	0.05895	-0.243000	0.09653	0.459000	0.35465	AGC		0.547	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2		
MLLT6	4302	broad.mit.edu	37	17	36863245	36863245	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:36863245G>A	ENST00000325718.7	+	2	243	c.152G>A	c.(151-153)tGc>tAc	p.C51Y	CTB-58E17.1_ENST00000563897.1_lincRNA|MLLT6_ENST00000378137.5_Missense_Mutation_p.C51Y|MLLT6_ENST00000579179.1_3'UTR|CTB-58E17.3_ENST00000583409.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	51					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.C51Y(1)		breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CCCTGGTTCTGCCGGAAATGT	0.607			T	MLL	AL																																p.C51Y			Dom	yes		17	17q21	4302	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G152A	17						.						96.0	73.0	81.0					17																	36863245		2203	4300	6503	34116771	SO:0001583	missense	4302	exon2				CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"""Zinc fingers, PHD-type"""	7138	protein-coding gene	gene with protein product	"""Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""trithorax homolog"""	600328	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"""			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.152G>A	17.37:g.36863245G>A	ENSP00000316426:p.Cys51Tyr		34116771	NM_005937	Q59F28|Q96IU3|Q9H5F6|Q9UF49	Missense_Mutation	SNP	ENST00000325718.7	37	CCDS11327.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146693	0.77888	.	.	ENSG00000108292	ENST00000325718;ENST00000378137	D;D	0.99950	-8.73;-8.73	5.4	5.4	0.78164	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.058968	0.64402	D	0.000001	D	0.99964	0.9986	H	0.98276	4.19	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.996	D	0.96462	0.9342	10	0.87932	D	0	.	17.7451	0.88418	0.0:0.0:1.0:0.0	.	51;51;51	E9PEP1;Q6P2C6;P55198	.;.;AF17_HUMAN	Y	51	ENSP00000316426:C51Y;ENSP00000367377:C51Y	ENSP00000316426:C51Y	C	+	2	0	MLLT6	34116771	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.469000	0.97679	2.543000	0.85770	0.655000	0.94253	TGC		0.607	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937	
SHPK	23729	broad.mit.edu	37	17	3514082	3514082	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:3514082G>T	ENST00000225519.3	-	7	1311	c.1209C>A	c.(1207-1209)tgC>tgA	p.C403*	SHPK_ENST00000572705.1_5'Flank	NM_013276.2	NP_037408	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	403					carbohydrate metabolic process (GO:0005975)|cellular response to interleukin-13 (GO:0035963)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|phosphorylation (GO:0016310)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|sedoheptulokinase activity (GO:0050277)	p.C403*(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		CAATGCCTCGGCACAGAGCCC	0.647																																					p.C403X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1209A	17						.						110.0	111.0	110.0					17																	3514082		2203	4300	6503	3460831	SO:0001587	stop_gained	23729	exon7			AF163573	CCDS11030.1	17p13	2008-02-08	2008-02-08	2008-02-08	ENSG00000197417	ENSG00000197417	2.7.1.14		1492	protein-coding gene	gene with protein product		605060	"""carbohydrate kinase-like"""	CARKL		10673275, 18186520	Standard	NM_013276		Approved	SHK	uc002fvz.1	Q9UHJ6	OTTHUMG00000090694	ENST00000225519.3:c.1209C>A	17.37:g.3514082G>T	ENSP00000225519:p.Cys403*		3460831	NM_013276	B2R640|Q8WUH3	Nonsense_Mutation	SNP	ENST00000225519.3	37	CCDS11030.1	.	.	.	.	.	.	.	.	.	.	G	37	6.313632	0.97467	.	.	ENSG00000197417	ENST00000225519	.	.	.	5.2	3.21	0.36854	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-14.3743	10.7631	0.46277	0.1546:0.0:0.8454:0.0	.	.	.	.	X	403	.	ENSP00000225519:C403X	C	-	3	2	SHPK	3460831	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	2.230000	0.42999	0.704000	0.31869	0.563000	0.77884	TGC		0.647	SHPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207378.2		
PIP4K2B	8396	broad.mit.edu	37	17	36934042	36934042	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:36934042C>T	ENST00000269554.3	-	7	1185	c.705G>A	c.(703-705)ttG>ttA	p.L235L	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	235	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cell surface receptor signaling pathway (GO:0007166)|intracellular signal transduction (GO:0035556)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|receptor signaling protein activity (GO:0005057)	p.L235L(1)		endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						TGAATGTTGGCAAGTCCTTGG	0.498																																					p.L235L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G705A	17						.						135.0	122.0	126.0					17																	36934042		2203	4300	6503	34187568	SO:0001819	synonymous_variant	8396	exon7			U85245	CCDS11329.1	17q21.2	2007-08-14	2007-08-14	2007-08-14		ENSG00000276293	2.7.1.149		8998	protein-coding gene	gene with protein product		603261	"""phosphatidylinositol-4-phosphate 5-kinase, type II, beta"""	PIP5K2B		9038203, 14691457, 9367159	Standard	NM_003559		Approved	PIP5KIIB, PIP5KIIbeta	uc002hqs.3	P78356		ENST00000269554.3:c.705G>A	17.37:g.36934042C>T			34187568	NM_003559	Q5U0E8|Q8TBP2	Silent	SNP	ENST00000269554.3	37	CCDS11329.1																																																																																				0.498	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256791.1	NM_003559	
P2RX5	5026	broad.mit.edu	37	17	3582983	3582983	+	Missense_Mutation	SNP	G	G	A	rs188788755		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:3582983G>A	ENST00000225328.5	-	11	1558	c.1160C>T	c.(1159-1161)cCg>cTg	p.P387L	P2RX5_ENST00000345901.3_Missense_Mutation_p.P363L|P2RX5_ENST00000552276.1_Missense_Mutation_p.P386L|P2RX5_ENST00000552050.1_Missense_Mutation_p.P327L|P2RX5_ENST00000435558.1_Missense_Mutation_p.P387L|P2RX5-TAX1BP3_ENST00000550383.1_Missense_Mutation_p.P387L|P2RX5_ENST00000551178.1_Missense_Mutation_p.P362L|P2RX5_ENST00000547178.1_Missense_Mutation_p.P386L	NM_001204519.1|NM_002561.3	NP_001191448.1|NP_002552.2	Q93086	P2RX5_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 5	387					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transport (GO:0006810)	integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|ion channel activity (GO:0005216)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)	p.P387L(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						CTGCTGCTCCGGCATCCCCAG	0.662													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18013	0.0		0.0	False		,,,				2504	0.0				p.P387L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1160T	17						.						64.0	48.0	53.0					17																	3582983		2203	4300	6503	3529732	SO:0001583	missense	5026	exon11			AF016709	CCDS11034.1, CCDS11035.1, CCDS56014.1, CCDS56015.1	17p13.3	2012-01-17			ENSG00000083454	ENSG00000083454		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8536	protein-coding gene	gene with protein product		602836				9414125	Standard	NM_002561		Approved	P2X5	uc002fwi.3	Q93086	OTTHUMG00000090700	ENST00000225328.5:c.1160C>T	17.37:g.3582983G>A	ENSP00000225328:p.Pro387Leu		3529732	NM_002561	G5E981|O43450|O75540|Q308M5|Q59F38|Q8IXW4|Q93087|Q9NZV0	Missense_Mutation	SNP	ENST00000225328.5	37	CCDS11034.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.18	2.459111	0.43634	.	.	ENSG00000083454	ENST00000435558;ENST00000551178;ENST00000547178;ENST00000225328;ENST00000345901;ENST00000552050	T;T;T;T;T;T	0.11385	3.48;3.11;3.07;3.07;3.12;2.78	2.45	-4.91	0.03085	.	7.782990	0.00166	N	0.000008	T	0.04770	0.0129	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B	0.06786	0.0;0.001;0.001;0.001;0.0;0.001	B;B;B;B;B;B	0.04013	0.0;0.001;0.001;0.001;0.0;0.001	T	0.27468	-1.0073	10	0.44086	T	0.13	.	0.7325	0.00959	0.2163:0.2731:0.2864:0.2242	.	327;363;386;362;387;387	B4DEG2;G5E981;Q93086-1;Q93086-2;Q93086;Q93086-4	.;.;.;.;P2RX5_HUMAN;.	L	387;362;386;387;363;327	ENSP00000415370:P387L;ENSP00000447545:P362L;ENSP00000448355:P386L;ENSP00000225328:P387L;ENSP00000342161:P363L;ENSP00000450006:P327L	ENSP00000225328:P387L	P	-	2	0	P2RX5	3529732	0.000000	0.05858	0.000000	0.03702	0.246000	0.25737	-0.118000	0.10692	-1.539000	0.01732	0.442000	0.29010	CCG		0.662	P2RX5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207388.3	NM_002561, NM_175080, NM_175081	
NEUROD2	4761	broad.mit.edu	37	17	37762299	37762299	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:37762299A>G	ENST00000302584.4	-	2	774	c.554T>C	c.(553-555)cTa>cCa	p.L185P		NM_006160.3	NP_006151.3	Q15784	NDF2_HUMAN	neuronal differentiation 2	185					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|cellular response to calcium ion (GO:0071277)|cellular response to electrical stimulus (GO:0071257)|cerebellar cortex development (GO:0021695)|negative regulation of synapse maturation (GO:2000297)|nervous system development (GO:0007399)|neuron development (GO:0048666)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.L185P(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			GTAGGACACTAGGTCTGGCCG	0.602																																					p.L185P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T554C	17						.						35.0	36.0	35.0					17																	37762299		2203	4300	6503	35015825	SO:0001583	missense	4761	exon2			U58681	CCDS11338.1	17q12	2013-05-21	2012-02-22		ENSG00000171532	ENSG00000171532		"""Basic helix-loop-helix proteins"""	7763	protein-coding gene	gene with protein product		601725	"""neurogenic differentiation 2"""			9119405	Standard	XM_005257409		Approved	NDRF, bHLHa1	uc002hry.3	Q15784	OTTHUMG00000133211	ENST00000302584.4:c.554T>C	17.37:g.37762299A>G	ENSP00000306754:p.Leu185Pro		35015825	NM_006160	Q8TBI7|Q9UQC6	Missense_Mutation	SNP	ENST00000302584.4	37	CCDS11338.1	.	.	.	.	.	.	.	.	.	.	A	16.51	3.144197	0.57044	.	.	ENSG00000171532	ENST00000302584	T	0.65732	-0.17	5.13	5.13	0.70059	Neurogenic differentiation factor, domain of unknown function (1);	0.088280	0.46758	U	0.000279	T	0.75140	0.3809	M	0.71206	2.165	0.80722	D	1	D	0.71674	0.998	D	0.65874	0.939	T	0.74237	-0.3730	10	0.31617	T	0.26	-7.9609	13.926	0.63964	1.0:0.0:0.0:0.0	.	185	Q15784	NDF2_HUMAN	P	185	ENSP00000306754:L185P	ENSP00000306754:L185P	L	-	2	0	NEUROD2	35015825	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.124000	0.94394	1.930000	0.55929	0.459000	0.35465	CTA		0.602	NEUROD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256931.2	NM_006160	
GSDMA	284110	broad.mit.edu	37	17	38132232	38132232	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:38132232A>G	ENST00000301659.4	+	11	1195	c.1077A>G	c.(1075-1077)ctA>ctG	p.L359L		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	359					apoptotic process (GO:0006915)	perinuclear region of cytoplasm (GO:0048471)		p.L359L(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						AAAAGATCCTACCCGTGCAGC	0.507																																					p.L359L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1077G	17						.						48.0	50.0	49.0					17																	38132232		1911	4142	6053	35385758	SO:0001819	synonymous_variant	284110	exon11			AB093591	CCDS45669.1	17q21.2	2008-07-31	2008-07-31	2008-07-31		ENSG00000167914			13311	protein-coding gene	gene with protein product		611218	"""gasdermin"", ""gasdermin 1"""	GSDM, GSDM1		12883658, 15010812, 17350798	Standard	NM_178171		Approved	FLJ39120	uc002htl.1	Q96QA5		ENST00000301659.4:c.1077A>G	17.37:g.38132232A>G			35385758	NM_178171	Q32MC5|Q86VE7|Q8N1M6	Silent	SNP	ENST00000301659.4	37	CCDS45669.1																																																																																				0.507	GSDMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446847.1	NM_178171	
WIPF2	147179	broad.mit.edu	37	17	38421097	38421097	+	Silent	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:38421097A>T	ENST00000323571.4	+	5	909	c.669A>T	c.(667-669)ggA>ggT	p.G223G	WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000585043.1_Silent_p.G223G|WIPF2_ENST00000583130.1_Silent_p.G223G|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000536600.1_Intron	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	223					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)		p.G223G(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						GTCGAGAGGGACCTCCTGCTC	0.607										HNSCC(43;0.11)																											p.G223G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A669T	17						.						151.0	132.0	139.0					17																	38421097		2203	4300	6503	35674623	SO:0001819	synonymous_variant	147179	exon5			BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.669A>T	17.37:g.38421097A>T			35674623	NM_133264	A8K0L3|Q658J8|Q71RE1|Q8TE44	Silent	SNP	ENST00000323571.4	37	CCDS11364.1																																																																																				0.607	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257157.2	NM_133264	
KRT25	147183	broad.mit.edu	37	17	38910639	38910639	+	Splice_Site	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:38910639T>C	ENST00000312150.4	-	2	571	c.511A>G	c.(511-513)Aag>Gag	p.K171E		NM_181534.3	NP_853512.1			keratin 25									p.K171E(1)		endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TCTACTTACTTGAGTCTGAAA	0.383																																					p.K171E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A511G	17						.						112.0	106.0	108.0					17																	38910639		2203	4300	6503	36164165	SO:0001630	splice_region_variant	147183	exon2			AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30839	protein-coding gene	gene with protein product			"""keratin 25A"""	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.512+1A>G	17.37:g.38910639T>C			36164165	NM_181534		Missense_Mutation	SNP	ENST00000312150.4	37	CCDS11373.1	.	.	.	.	.	.	.	.	.	.	T	32	5.138212	0.94560	.	.	ENSG00000204897	ENST00000394042;ENST00000312150	D	0.91124	-2.79	5.73	5.73	0.89815	Filament (1);	0.084250	0.51477	D	0.000086	D	0.96537	0.8870	M	0.93150	3.385	0.52501	D	0.999951	D	0.89917	1.0	D	0.80764	0.994	D	0.97533	1.0081	10	0.87932	D	0	.	16.0141	0.80425	0.0:0.0:0.0:1.0	.	171	Q7Z3Z0	K1C25_HUMAN	E	171	ENSP00000310573:K171E	ENSP00000310573:K171E	K	-	1	0	KRT25	36164165	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.689000	0.84165	2.181000	0.69327	0.533000	0.62120	AAG		0.383	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534	Missense_Mutation
JUP	3728	broad.mit.edu	37	17	39913988	39913988	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:39913988G>A	ENST00000393931.3	-	11	1940	c.1822C>T	c.(1822-1824)Ctg>Ttg	p.L608L	JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Silent_p.L608L|JUP_ENST00000310706.5_Silent_p.L608L	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	608	Interaction with DSC1.				adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)	p.L608L(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		AGCTCACACAGCACCCCGGCA	0.672																																					p.L608L	Colon(16;42 520 6044 17852 28530)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1822T	17						.						26.0	26.0	26.0					17																	39913988		2203	4300	6503	37167514	SO:0001819	synonymous_variant	3728	exon11			AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"""Armadillo repeat containing"""	6207	protein-coding gene	gene with protein product		173325	"""catenin (cadherin-associated protein), gamma 80kDa"""	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.1822C>T	17.37:g.39913988G>A			37167514	NM_021991	Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Silent	SNP	ENST00000393931.3	37	CCDS11407.1																																																																																				0.672	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1		
NAGLU	4669	broad.mit.edu	37	17	40693203	40693203	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:40693203G>A	ENST00000225927.2	+	5	1101	c.1000G>A	c.(1000-1002)Gtc>Atc	p.V334I	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	334			V -> F (in MPS3B). {ECO:0000269|PubMed:10094189}.		carbohydrate metabolic process (GO:0005975)|cerebellar Purkinje cell layer development (GO:0021680)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inner ear receptor cell development (GO:0060119)|locomotor rhythm (GO:0045475)|lysosome organization (GO:0007040)|middle ear morphogenesis (GO:0042474)|nervous system development (GO:0007399)|retinal rod cell development (GO:0046548)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-N-acetylglucosaminidase activity (GO:0004561)	p.V334I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CACCACTGCCGTCTATGAGGC	0.577																																					p.V334I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1000A	17	GRCh37	CM992352	NAGLU	M		.						65.0	58.0	60.0					17																	40693203		2203	4300	6503	37946729	SO:0001583	missense	4669	exon5				CCDS11427.1	17q21.2	2010-07-27	2010-07-27		ENSG00000108784	ENSG00000108784	3.2.1.50		7632	protein-coding gene	gene with protein product	"""Sanfilippo disease IIIB"""	609701					Standard	XM_006721920		Approved	NAG	uc002hzv.3	P54802		ENST00000225927.2:c.1000G>A	17.37:g.40693203G>A	ENSP00000225927:p.Val334Ile		37946729	NM_000263		Missense_Mutation	SNP	ENST00000225927.2	37	CCDS11427.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.008166	0.35415	.	.	ENSG00000108784	ENST00000225927	D	0.98617	-5.03	5.07	4.1	0.47936	Alpha-N-acetylglucosaminidase, tim-barrel domain (1);	0.217430	0.39759	N	0.001276	D	0.93523	0.7933	N	0.17248	0.465	0.36387	D	0.862268	P	0.43314	0.803	B	0.36567	0.228	D	0.93764	0.7069	10	0.07644	T	0.81	-38.2895	8.6833	0.34223	0.174:0.0:0.826:0.0	.	334	P54802	ANAG_HUMAN	I	334	ENSP00000225927:V334I	ENSP00000225927:V334I	V	+	1	0	NAGLU	37946729	1.000000	0.71417	0.935000	0.37517	0.518000	0.34316	5.300000	0.65721	1.375000	0.46248	0.561000	0.74099	GTC		0.577	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450385.1	NM_000263	
MLX	6945	broad.mit.edu	37	17	40720953	40720953	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:40720953G>A	ENST00000246912.4	+	4	483	c.430G>A	c.(430-432)Gcc>Acc	p.A144T	MLX_ENST00000346833.4_Missense_Mutation_p.A60T|MLX_ENST00000435881.2_Missense_Mutation_p.A90T	NM_170607.2	NP_733752.1	Q9UH92	MLX_HUMAN	MLX, MAX dimerization protein	144	Leucine-zipper.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				energy reserve metabolic process (GO:0006112)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|positive regulation of cellular metabolic process (GO:0031325)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.A144T(1)		kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		GAGGAGGGACGCCATCAAGGT	0.607																																					p.A60T	GBM(121;657 1601 4665 24731 34640)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G178A	17						.						31.0	23.0	26.0					17																	40720953		2201	4298	6499	37974479	SO:0001583	missense	6945	exon3			AF213668	CCDS11430.1, CCDS42341.1, CCDS45687.1	17q21.1	2013-05-21	2012-11-15	2005-02-11		ENSG00000108788		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	11645	protein-coding gene	gene with protein product		602976	"""transcription factor-like 4"", ""MAX-like protein X"""	TCFL4		8973301	Standard	NM_170607		Approved	MAD7, MXD7, bHLHd13	uc002iag.3	Q9UH92		ENST00000246912.4:c.430G>A	17.37:g.40720953G>A	ENSP00000246912:p.Ala144Thr		37974479	NM_198205	A8K2J3|B2RAV8|B2RD73|Q53XM6|Q96FL2|Q9H2V0|Q9H2V1|Q9H2V2|Q9NXN3	Missense_Mutation	SNP	ENST00000246912.4	37	CCDS11430.1	.	.	.	.	.	.	.	.	.	.	G	33	5.256142	0.95336	.	.	ENSG00000108788	ENST00000346833;ENST00000246912;ENST00000435881	D;D;D	0.97870	-4.58;-4.58;-4.58	5.53	5.53	0.82687	Helix-loop-helix DNA-binding (5);	0.112225	0.64402	D	0.000012	D	0.98204	0.9406	L	0.56280	1.765	0.80722	D	1	D;D;D	0.89917	1.0;0.989;0.973	D;P;P	0.72625	0.978;0.835;0.606	D	0.97959	1.0336	10	0.41790	T	0.15	-24.3186	19.2635	0.93977	0.0:0.0:1.0:0.0	.	60;144;90	Q9UH92-2;Q9UH92;Q9UH92-3	.;MLX_HUMAN;.	T	60;144;90	ENSP00000320913:A60T;ENSP00000246912:A144T;ENSP00000416627:A90T	ENSP00000246912:A144T	A	+	1	0	MLX	37974479	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.597000	0.82733	2.882000	0.98803	0.655000	0.94253	GCC		0.607	MLX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450415.1	NM_170607	
EZH1	2145	broad.mit.edu	37	17	40855802	40855802	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:40855802A>T	ENST00000428826.2	-	19	2175	c.2054T>A	c.(2053-2055)aTt>aAt	p.I685N	EZH1_ENST00000590783.1_5'Flank|EZH1_ENST00000435174.1_Missense_Mutation_p.I546N|EZH1_ENST00000585893.1_Missense_Mutation_p.I645N|EZH1_ENST00000590078.1_Missense_Mutation_p.I615N|EZH1_ENST00000415827.2_Missense_Mutation_p.I676N|EZH1_ENST00000592743.1_Missense_Mutation_p.I685N			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	685	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)	p.I685N(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TGCAAATCGAATTTTGTTTCC	0.438																																					p.I685N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2054A	17						.						168.0	142.0	151.0					17																	40855802		2203	4300	6503	38109328	SO:0001583	missense	2145	exon19				CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"""Chromatin-modifying enzymes / K-methyltransferases"""	3526	protein-coding gene	gene with protein product		601674	"""enhancer of zeste (Drosophila) homolog 1"", ""enhancer of zeste homolog 1 (Drosophila)"""			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.2054T>A	17.37:g.40855802A>T	ENSP00000404658:p.Ile685Asn		38109328	NM_001991	A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	ENST00000428826.2	37	CCDS32659.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.847153	0.91277	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	D;D	0.81821	-1.54;-1.54	5.45	5.45	0.79879	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.89248	0.6661	M	0.75447	2.3	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.998;1.0;0.998;0.999	D	0.90483	0.4461	10	0.87932	D	0	.	15.6861	0.77411	1.0:0.0:0.0:0.0	.	546;645;691;615;685	Q92800-5;Q92800-3;Q92800-2;Q92800-4;Q92800	.;.;.;.;EZH1_HUMAN	N	688;685;645;546	ENSP00000404658:I685N;ENSP00000404071:I546N	ENSP00000264646:I688N	I	-	2	0	EZH1	38109328	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.139000	0.94554	2.289000	0.77006	0.460000	0.39030	ATT		0.438	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991	
AOC3	8639	broad.mit.edu	37	17	41003740	41003740	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:41003740T>C	ENST00000308423.2	+	1	540	c.380T>C	c.(379-381)aTc>aCc	p.I127T	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	127					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)	p.I127T(1)		breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GCACTGGCCATCGTCTTCTTT	0.642																																					p.I127T	NSCLC(3;192 220 10664 11501 16477)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T380C	17						.						8.0	9.0	9.0					17																	41003740		1990	3906	5896	38257266	SO:0001583	missense	8639	exon1			AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"""vascular adhesion protein 1"""	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.380T>C	17.37:g.41003740T>C	ENSP00000312326:p.Ile127Thr		38257266	NM_003734	B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	ENST00000308423.2	37	CCDS11444.1	.	.	.	.	.	.	.	.	.	.	T	14.08	2.428856	0.43122	.	.	ENSG00000131471	ENST00000308423	T	0.38560	1.13	4.75	4.75	0.60458	Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);Copper amine oxidase, N2-terminal (1);	0.065034	0.64402	D	0.000013	T	0.48926	0.1527	N	0.20881	0.62	0.80722	D	1	P	0.46142	0.873	D	0.66084	0.941	T	0.43015	-0.9417	10	0.33141	T	0.24	.	14.7031	0.69168	0.0:0.0:0.0:1.0	.	127	Q16853	AOC3_HUMAN	T	127	ENSP00000312326:I127T	ENSP00000312326:I127T	I	+	2	0	AOC3	38257266	1.000000	0.71417	0.991000	0.47740	0.247000	0.25773	7.579000	0.82511	2.116000	0.64780	0.482000	0.46254	ATC		0.642	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734	
IFI35	3430	broad.mit.edu	37	17	41165176	41165176	+	Missense_Mutation	SNP	C	C	T	rs141921308	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:41165176C>T	ENST00000415816.2	+	3	456	c.233C>T	c.(232-234)gCg>gTg	p.A78V	IFI35_ENST00000438323.2_Missense_Mutation_p.A78V	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35	78					cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.A78V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		CCTCTGCTTGCGGGCTCTGCT	0.577													C|||	2	0.000399361	0.0	0.0	5008	,	,		19912	0.002		0.0	False		,,,				2504	0.0				p.A78V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C233T	17						.						116.0	118.0	117.0					17																	41165176		2203	4300	6503	38418702	SO:0001583	missense	3430	exon3			BC001356	CCDS11450.1	17q21	2006-04-05			ENSG00000068079	ENSG00000068079			5399	protein-coding gene	gene with protein product		600735					Standard	NM_005533		Approved	IFP35	uc021txx.1	P80217	OTTHUMG00000167720	ENST00000415816.2:c.233C>T	17.37:g.41165176C>T	ENSP00000394579:p.Ala78Val		38418702	NM_005533	C9JGX1|Q92984|Q99537|Q9BV98	Missense_Mutation	SNP	ENST00000415816.2	37		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	8.459	0.854954	0.17106	.	.	ENSG00000068079	ENST00000415816;ENST00000438323	T;T	0.44083	0.93;0.94	5.23	-0.497	0.12023	Interferon induced 35kDa, N-terminal (1);	0.291929	0.37261	N	0.002173	T	0.22781	0.0550	N	0.22421	0.69	0.09310	N	0.999995	B	0.31290	0.318	B	0.27796	0.083	T	0.11991	-1.0565	10	0.62326	D	0.03	.	6.6289	0.22845	0.2152:0.3543:0.4306:0.0	.	78	P80217	IN35_HUMAN	V	78	ENSP00000394579:A78V;ENSP00000395590:A78V	ENSP00000394579:A78V	A	+	2	0	IFI35	38418702	0.997000	0.39634	0.580000	0.28601	0.097000	0.18754	1.311000	0.33562	-0.123000	0.11745	-3.246000	0.00050	GCG		0.577	IFI35-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000395851.1	NM_005533	
VAT1	10493	broad.mit.edu	37	17	41170781	41170781	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:41170781C>T	ENST00000420567.3	-	2	166	c.21G>A	c.(19-21)ggG>ggA	p.G7G	VAT1_ENST00000587173.1_Silent_p.G73G|VAT1_ENST00000355653.3_Silent_p.G141G			P54219	VMAT1_HUMAN	vesicle amine transport 1	0					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)	p.G141G(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	CCTGCCACATCCCTGACCGGT	0.502																																					p.G141G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G423A	17						.						107.0	88.0	95.0					17																	41170781		2203	4300	6503	38424307	SO:0001819	synonymous_variant	10493	exon2			U18009	CCDS11451.1	17q21	2013-08-23	2013-08-23			ENSG00000108828			16919	protein-coding gene	gene with protein product		604631	"""vesicle amine transport protein 1 homolog (T. californica)"""			7774926, 8938427	Standard	NM_006373		Approved	VATI, FLJ20230	uc002icm.1	Q99536		ENST00000420567.3:c.21G>A	17.37:g.41170781C>T			38424307	NM_006373	E9PDJ5|Q9BRE4	Silent	SNP	ENST00000420567.3	37																																																																																					0.502	VAT1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000453104.1	NM_006373	
BRCA1	672	broad.mit.edu	37	17	41246082	41246082	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:41246082T>C	ENST00000357654.3	-	10	1584	c.1466A>G	c.(1465-1467)gAg>gGg	p.E489G	BRCA1_ENST00000493795.1_Missense_Mutation_p.E442G|BRCA1_ENST00000354071.3_Missense_Mutation_p.E489G|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.E193G|BRCA1_ENST00000471181.2_Missense_Mutation_p.E489G|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.E489G|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000352993.3_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	489					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E489G(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TATCTGTGGCTCAGTAACAAA	0.388			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																											p.E489G		yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1466G	17						.						123.0	121.0	122.0					17																	41246082		2203	4300	6503	38499608	SO:0001583	missense	672	exon10	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.1466A>G	17.37:g.41246082T>C	ENSP00000350283:p.Glu489Gly		38499608	NM_007294	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	T	10.04	1.242295	0.22796	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795;ENST00000470026;ENST00000477152	D;D;D;D;D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3	4.44	3.32	0.38043	.	0.120762	0.37530	N	0.002059	D	0.96620	0.8897	M	0.90542	3.125	0.09310	N	1	P;P;D;B;D;B	0.89917	0.951;0.951;1.0;0.338;0.965;0.289	P;P;D;B;P;B	0.77557	0.705;0.766;0.99;0.434;0.734;0.174	D	0.90990	0.4834	10	0.66056	D	0.02	-4.364	10.0197	0.42035	0.0:0.0:0.1698:0.8302	.	489;448;489;489;489;489	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	G	489;489;489;489;193;489;442;489;463	ENSP00000350283:E489G;ENSP00000326002:E489G;ENSP00000246907:E489G;ENSP00000310938:E193G;ENSP00000418960:E489G;ENSP00000418775:E442G;ENSP00000419274:E489G;ENSP00000419988:E463G	ENSP00000310938:E193G	E	-	2	0	BRCA1	38499608	0.015000	0.18098	0.012000	0.15200	0.241000	0.25554	1.782000	0.38654	0.801000	0.34066	0.379000	0.24179	GAG		0.388	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294	
MPP2	4355	broad.mit.edu	37	17	41959740	41959740	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:41959740C>A	ENST00000461854.1	-	7	750	c.665G>T	c.(664-666)cGc>cTc	p.R222L	MPP2_ENST00000520305.1_Missense_Mutation_p.R59L|MPP2_ENST00000377184.3_Missense_Mutation_p.R215L|MPP2_ENST00000536246.1_Missense_Mutation_p.R187L|MPP2_ENST00000269095.4_Missense_Mutation_p.R198L|MPP2_ENST00000473246.1_5'Flank|MPP2_ENST00000518766.1_Missense_Mutation_p.R243L|MPP2_ENST00000523501.1_Missense_Mutation_p.R187L			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	222	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.R198L(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CTGCAGTGCGCGGGGGTCACT	0.647																																					p.R198L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G593T	17						.						64.0	62.0	62.0					17																	41959740		2203	4300	6503	39315266	SO:0001583	missense	4355	exon6				CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 2"", ""discs large, homolog 2"""	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.665G>T	17.37:g.41959740C>A	ENSP00000428286:p.Arg222Leu		39315266	NM_005374	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000461854.1	37		.	.	.	.	.	.	.	.	.	.	c	11.38	1.622279	0.28889	.	.	ENSG00000108852	ENST00000377184;ENST00000269095;ENST00000461854;ENST00000520305;ENST00000523501;ENST00000536246;ENST00000518766;ENST00000523220	T;T;T;T;T;T;T;T	0.43688	1.88;1.88;1.88;1.88;1.88;1.88;1.88;0.94	4.75	3.78	0.43462	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.34542	0.0901	L	0.45137	1.4	0.38341	D	0.944079	P;P;B	0.34780	0.468;0.468;0.126	B;B;B	0.36808	0.233;0.233;0.097	T	0.35992	-0.9766	9	0.66056	D	0.02	.	7.3522	0.26697	0.0:0.8079:0.0:0.1921	.	243;222;215	E7EV80;Q14168;Q14168-3	.;MPP2_HUMAN;.	L	215;198;222;59;187;187;243;181	ENSP00000366389:R215L;ENSP00000269095:R198L;ENSP00000428286:R222L;ENSP00000428136:R59L;ENSP00000430540:R187L;ENSP00000438012:R187L;ENSP00000428182:R243L;ENSP00000428468:R181L	ENSP00000269095:R198L	R	-	2	0	MPP2	39315266	0.025000	0.19082	0.230000	0.23976	0.303000	0.27691	0.548000	0.23314	1.236000	0.43740	0.650000	0.86243	CGC		0.647	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2	NM_005374	
GRN	2896	broad.mit.edu	37	17	42429834	42429834	+	Silent	SNP	C	C	T	rs63751698		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:42429834C>T	ENST00000053867.3	+	12	1601	c.1539C>T	c.(1537-1539)caC>caT	p.H513H	GRN_ENST00000589265.1_Silent_p.H356H	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	513					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)	p.H513H(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GTAGCCCTCACGTGGGTGTGA	0.627																																					p.H513H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1539T	17						.						116.0	99.0	105.0					17																	42429834		2203	4300	6503	39785360	SO:0001819	synonymous_variant	2896	exon12			M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"""progranulin"""	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.1539C>T	17.37:g.42429834C>T			39785360	NM_002087	D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Silent	SNP	ENST00000053867.3	37	CCDS11483.1																																																																																				0.627	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457766.1	NM_002087	
FZD2	2535	broad.mit.edu	37	17	42636601	42636601	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:42636601G>A	ENST00000315323.3	+	1	1677	c.1545G>A	c.(1543-1545)tcG>tcA	p.S515S		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	515					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.S515S(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CGCGCATGTCGCCCGACTTCA	0.637																																					p.S515S												.	.	2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)	c.G1545A	17						.						43.0	40.0	41.0					17																	42636601		2203	4300	6503	39992127	SO:0001819	synonymous_variant	2535	exon1			L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"""GPCR / Class F : Frizzled receptors"""	4040	protein-coding gene	gene with protein product		600667	"""frizzled (Drosophila) homolog 2"", ""frizzled homolog 2 (Drosophila)"", ""frizzled 2, seven transmembrane spanning receptor"", ""frizzled family receptor 2"""			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.1545G>A	17.37:g.42636601G>A			39992127	NM_001466	Q0VG82	Silent	SNP	ENST00000315323.3	37	CCDS11484.1																																																																																				0.637	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466	
DBF4B	80174	broad.mit.edu	37	17	42825833	42825833	+	Splice_Site	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:42825833G>A	ENST00000315005.3	+	13	1327	c.1189G>A	c.(1189-1191)Gtg>Atg	p.V397M	DBF4B_ENST00000393547.2_Splice_Site_p.V397M	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	397					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.V397M(1)		kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CCAGGCATCAGGTATCCCAGA	0.592																																					p.V397M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1189A	17						.						89.0	71.0	77.0					17																	42825833		2203	4300	6503	40181359	SO:0001630	splice_region_variant	80174	exon13			AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"""Zinc fingers, DBF-type"""	17883	protein-coding gene	gene with protein product	"""chiffon homolog B (Drosophila)"", ""zinc finger, DBF-type containing 1B"""	611661	"""DBF4 homolog B (S. cerevisiae)"""			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.1189+1G>A	17.37:g.42825833G>A			40181359	NM_025104	D3DX56|Q8TEX0|Q96B19|Q9H912	Missense_Mutation	SNP	ENST00000315005.3	37	CCDS11485.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.259612	0.23051	.	.	ENSG00000161692	ENST00000393547;ENST00000315005	T;T	0.48201	0.89;0.82	4.21	3.21	0.36854	.	38.635100	0.00166	N	0.000002	T	0.39682	0.1087	N	0.08118	0	0.18873	N	0.999989	P;P	0.48016	0.904;0.845	P;B	0.47573	0.55;0.421	T	0.44065	-0.9352	10	0.54805	T	0.06	.	8.9975	0.36061	0.0:0.0:0.7794:0.2206	.	397;397	Q8NFT6-2;Q8NFT6	.;DBF4B_HUMAN	M	397	ENSP00000377178:V397M;ENSP00000323663:V397M	ENSP00000323663:V397M	V	+	1	0	DBF4B	40181359	0.685000	0.27652	0.003000	0.11579	0.002000	0.02628	1.819000	0.39022	0.947000	0.37659	0.462000	0.41574	GTG		0.592	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	NM_025104	Missense_Mutation
ARHGAP27	201176	broad.mit.edu	37	17	43481872	43481872	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:43481872C>T	ENST00000428638.1	-	5	1351	c.1352G>A	c.(1351-1353)aGc>aAc	p.S451N	ARHGAP27_ENST00000582826.1_5'Flank|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.S110N|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.S110N|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.S451N|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.S83N|ARHGAP27_ENST00000532038.1_Missense_Mutation_p.S251N|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.S424N			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	451					positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of Rac GTPase activity (GO:0032855)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|SH3 domain binding (GO:0017124)	p.S110N(1)		endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					TTTATGGATGCTTCGAGGGGC	0.602																																					p.S110N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G329A	17						.						64.0	64.0	64.0					17																	43481872		2203	4300	6503	40837655	SO:0001583	missense	201176	exon5			AK125535	CCDS11498.1, CCDS74082.1	17q21.31	2013-01-10			ENSG00000159314	ENSG00000159314		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	31813	protein-coding gene	gene with protein product		610591	"""SH3 domain containing 20"""	SH3D20		15147912	Standard	NM_199282		Approved	CAMGAP1, FLJ43547, SH3P20	uc002iix.3	Q6ZUM4	OTTHUMG00000166982	ENST00000428638.1:c.1352G>A	17.37:g.43481872C>T	ENSP00000403323:p.Ser451Asn		40837655	NM_199282	A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	Missense_Mutation	SNP	ENST00000428638.1	37		.	.	.	.	.	.	.	.	.	.	C	12.24	1.878564	0.33162	.	.	ENSG00000159314	ENST00000532038;ENST00000376922;ENST00000528384;ENST00000532891;ENST00000428638;ENST00000442348;ENST00000455881;ENST00000528677	T;T;T;T;T;T;T;T	0.48522	3.28;3.03;3.08;3.28;3.28;3.16;3.03;0.81	5.83	-0.0862	0.13682	.	2.784520	0.00757	N	0.001117	T	0.38852	0.1056	L	0.39147	1.195	0.09310	N	0.999996	B;B;B	0.17268	0.011;0.021;0.016	B;B;B	0.15484	0.008;0.013;0.011	T	0.17471	-1.0368	10	0.44086	T	0.13	.	4.3613	0.11203	0.0:0.3972:0.315:0.2878	.	251;424;451	B7Z6T0;F8WBX1;Q6ZUM4	.;.;RHG27_HUMAN	N	251;110;83;451;451;424;110;194	ENSP00000432762:S251N;ENSP00000366121:S110N;ENSP00000431591:S83N;ENSP00000433942:S451N;ENSP00000403323:S451N;ENSP00000409330:S424N;ENSP00000408235:S110N;ENSP00000437100:S194N	ENSP00000366121:S110N	S	-	2	0	ARHGAP27	40837655	0.148000	0.22702	0.121000	0.21740	0.923000	0.55619	0.085000	0.14912	0.056000	0.16144	0.591000	0.81541	AGC		0.602	ARHGAP27-202	KNOWN	basic	protein_coding	protein_coding		NM_199282	
KANSL1	284058	broad.mit.edu	37	17	44249082	44249082	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:44249082G>A	ENST00000262419.6	-	2	898	c.428C>T	c.(427-429)aCg>aTg	p.T143M	KANSL1_ENST00000576248.1_5'Flank|KANSL1_ENST00000393476.3_De_novo_Start_InFrame|KANSL1_ENST00000432791.1_Missense_Mutation_p.T143M|KANSL1_ENST00000572904.1_Missense_Mutation_p.T143M|KANSL1_ENST00000574590.1_Missense_Mutation_p.T143M|KANSL1_ENST00000575318.1_Missense_Mutation_p.T143M	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	143					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.T143M(1)									CTGACCACTCGTATTCATGGT	0.438																																					p.T143M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C428T	17						.						153.0	217.0	195.0					17																	44249082		2203	4300	6503	41604859	SO:0001583	missense	284058	exon2			BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.428C>T	17.37:g.44249082G>A	ENSP00000262419:p.Thr143Met		41604859	NM_015443	A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	ENST00000262419.6	37	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	G	9.889	1.203790	0.22121	.	.	ENSG00000120071	ENST00000262419;ENST00000432791	T;T	0.12984	2.63;2.63	5.74	3.75	0.43078	.	0.236616	0.44688	N	0.000435	T	0.06234	0.0161	N	0.08118	0	0.80722	D	1	B;B	0.22003	0.015;0.063	B;B	0.12156	0.003;0.007	T	0.22695	-1.0209	10	0.52906	T	0.07	-1.6977	5.4548	0.16584	0.1731:0.1663:0.6606:0.0	.	143;143	C9JHY2;Q7Z3B3	.;K1267_HUMAN	M	143	ENSP00000262419:T143M;ENSP00000387393:T143M	ENSP00000262419:T143M	T	-	2	0	KIAA1267	41604859	1.000000	0.71417	0.941000	0.38009	0.958000	0.62258	3.501000	0.53325	1.420000	0.47138	0.561000	0.74099	ACG		0.438	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443	
MYBBP1A	10514	broad.mit.edu	37	17	4444824	4444824	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:4444824C>T	ENST00000254718.4	-	24	3537	c.3231G>A	c.(3229-3231)gcG>gcA	p.A1077A	MYBBP1A_ENST00000381556.2_Silent_p.A1077A			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1077					cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)	p.A1077A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GCTGATGCTGCGCCTTGGTCT	0.637																																					p.A1077A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3231A	17						.						117.0	110.0	112.0					17																	4444824		2203	4300	6503	4391573	SO:0001819	synonymous_variant	10514	exon24			AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.3231G>A	17.37:g.4444824C>T			4391573	NM_014520	Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Silent	SNP	ENST00000254718.4	37	CCDS11046.1																																																																																				0.637	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520	
ITGB3	3690	broad.mit.edu	37	17	45380143	45380143	+	Missense_Mutation	SNP	G	G	A	rs534325095		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:45380143G>A	ENST00000559488.1	+	13	2087	c.2071G>A	c.(2071-2073)Gtc>Atc	p.V691I	RP11-290H9.4_ENST00000576345.1_RNA|ITGB3_ENST00000435993.2_Missense_Mutation_p.V644I|RP11-290H9.4_ENST00000575039.1_RNA|ITGB3_ENST00000560629.1_Missense_Mutation_p.R679H	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	691					activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.V691I(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	TGACTGTGTCGTCAGATTCCA	0.488													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21156	0.0		0.0	False		,,,				2504	0.0				p.V691I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2071A	17						.						115.0	102.0	106.0					17																	45380143		2203	4300	6503	42735142	SO:0001583	missense	3690	exon13				CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"""CD molecules"", ""Integrins"""	6156	protein-coding gene	gene with protein product	"""platelet glycoprotein IIIa"""	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.2071G>A	17.37:g.45380143G>A	ENSP00000452786:p.Val691Ile		42735142	NM_000212	A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	ENST00000559488.1	37	CCDS11511.1	.	.	.	.	.	.	.	.	.	.	G	8.047	0.765112	0.15914	.	.	ENSG00000178852	ENST00000262017;ENST00000435993	D	0.89939	-2.59	5.77	3.67	0.42095	Integrin beta subunit, tail (2);	0.297844	0.35970	N	0.002878	T	0.76793	0.4037	N	0.17723	0.515	0.34981	D	0.754119	B	0.15719	0.014	B	0.16289	0.015	T	0.67925	-0.5544	10	0.02654	T	1	.	10.7265	0.46072	0.1686:0.0:0.8314:0.0	.	691	P05106	ITB3_HUMAN	I	691;644	ENSP00000407801:V644I	ENSP00000262017:V691I	V	+	1	0	C17orf57	42735142	1.000000	0.71417	0.957000	0.39632	0.997000	0.91878	3.155000	0.50700	0.684000	0.31448	0.655000	0.94253	GTC		0.488	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212	
IGF2BP1	10642	broad.mit.edu	37	17	47123363	47123363	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:47123363A>G	ENST00000290341.3	+	13	1841	c.1507A>G	c.(1507-1509)Att>Gtt	p.I503V	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.I364V	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	503	KH 4. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)	p.I503V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGGCCGGGTCATTGGCAAAGG	0.547																																					p.I364V	Esophageal Squamous(198;1041 2123 8248 37119 38268)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1090G	17						.						52.0	51.0	51.0					17																	47123363		2203	4300	6503	44478362	SO:0001583	missense	10642	exon11			AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.1507A>G	17.37:g.47123363A>G	ENSP00000290341:p.Ile503Val		44478362	NM_001160423	C9JT33	Missense_Mutation	SNP	ENST00000290341.3	37	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	A	29.9	5.047960	0.93740	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.62639	0.01;0.01	5.5	5.5	0.81552	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.82930	0.5144	M	0.93594	3.435	0.80722	D	1	P;D	0.54047	0.745;0.964	P;P	0.62435	0.902;0.866	D	0.87502	0.2434	10	0.87932	D	0	-10.2205	15.4345	0.75133	1.0:0.0:0.0:0.0	.	364;503	C9JT33;Q9NZI8	.;IF2B1_HUMAN	V	503;364	ENSP00000290341:I503V;ENSP00000389135:I364V	ENSP00000290341:I503V	I	+	1	0	IGF2BP1	44478362	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.099000	0.94207	2.308000	0.77769	0.533000	0.62120	ATT		0.547	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546	
SLC35B1	10237	broad.mit.edu	37	17	47778824	47778824	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:47778824T>A	ENST00000240333.6	-	9	1086	c.965A>T	c.(964-966)cAc>cTc	p.H322L	SLC35B1_ENST00000415270.2_Missense_Mutation_p.H359L			P78383	S35B1_HUMAN	solute carrier family 35, member B1	322					transport (GO:0006810)|UDP-galactose transmembrane transport (GO:0072334)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	UDP-galactose transmembrane transporter activity (GO:0005459)	p.H322L(1)		endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						CTCTTCCTAGTGGGATGTCTT	0.403																																					p.H322L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A965T	17						.						156.0	137.0	144.0					17																	47778824		2203	4300	6503	45133823	SO:0001583	missense	10237	exon9			D16978	CCDS11552.1, CCDS11552.2	17q21.32	2013-05-22			ENSG00000121073	ENSG00000121073		"""Solute carriers"""	20798	protein-coding gene	gene with protein product		610790				9010752	Standard	NM_005827		Approved	UGTREL1	uc002iph.1	P78383	OTTHUMG00000161638	ENST00000240333.6:c.965A>T	17.37:g.47778824T>A	ENSP00000240333:p.His322Leu		45133823	NM_005827	B4DEC4|J3KQV4|Q96EW7	Missense_Mutation	SNP	ENST00000240333.6	37	CCDS11552.1	.	.	.	.	.	.	.	.	.	.	T	17.39	3.376659	0.61735	.	.	ENSG00000121073	ENST00000240333;ENST00000415270;ENST00000502406	T;T	0.32023	1.56;1.47	5.38	4.26	0.50523	.	0.216377	0.47093	D	0.000257	T	0.18002	0.0432	N	0.16478	0.41	0.54753	D	0.999988	B;P	0.37466	0.244;0.596	B;B	0.32289	0.049;0.143	T	0.07673	-1.0760	10	0.56958	D	0.05	.	12.3522	0.55155	0.1346:0.0:0.0:0.8654	.	255;322	D3DTX1;P78383	.;S35B1_HUMAN	L	322;359;198	ENSP00000240333:H322L;ENSP00000409548:H359L	ENSP00000240333:H322L	H	-	2	0	SLC35B1	45133823	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.472000	0.60189	2.254000	0.74563	0.533000	0.62120	CAC		0.403	SLC35B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365564.2	NM_005827	
CHAD	1101	broad.mit.edu	37	17	48545406	48545406	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:48545406C>A	ENST00000508540.1	-	1	921	c.769G>T	c.(769-771)Gag>Tag	p.E257*	ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000541920.1_Intron|CHAD_ENST00000258969.4_Nonsense_Mutation_p.E257*|ACSF2_ENST00000300441.4_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	257					bone development (GO:0060348)|cartilage condensation (GO:0001502)|negative regulation of bone trabecula formation (GO:1900155)	proteinaceous extracellular matrix (GO:0005578)		p.E257*(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CTCACCTTCTCCAGGTTGGTG	0.622																																					p.E257X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G769T	17						.						71.0	62.0	65.0					17																	48545406		2203	4300	6503	45900405	SO:0001587	stop_gained	1101	exon1			U96767	CCDS11568.1	17q21.33	2008-02-05			ENSG00000136457	ENSG00000136457		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	1909	protein-coding gene	gene with protein product	"""chondroadherin proteoglycan"""	602178				9344663	Standard	NM_001267		Approved	SLRR4A	uc010dbr.3	O15335	OTTHUMG00000162129	ENST00000508540.1:c.769G>T	17.37:g.48545406C>A	ENSP00000423812:p.Glu257*		45900405	NM_001267	A8K812|Q6GTU0|Q96RJ5	Nonsense_Mutation	SNP	ENST00000508540.1	37	CCDS11568.1	.	.	.	.	.	.	.	.	.	.	C	36	5.933417	0.97116	.	.	ENSG00000136457	ENST00000508540;ENST00000258969	.	.	.	4.42	4.42	0.53409	.	0.107355	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	11.2564	0.49056	0.0:0.9032:0.0:0.0968	.	.	.	.	X	257	.	ENSP00000258969:E257X	E	-	1	0	CHAD	45900405	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.865000	0.56033	2.292000	0.77174	0.563000	0.77884	GAG		0.622	CHAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367447.3	NM_001267	
MYCBPAP	84073	broad.mit.edu	37	17	48604743	48604743	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:48604743G>A	ENST00000323776.5	+	15	2556	c.2394G>A	c.(2392-2394)ttG>ttA	p.L798L	MYCBPAP_ENST00000436259.2_Silent_p.L761L	NM_032133.4	NP_115509.4			MYCBP associated protein									p.L761L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CAAGGCCATTGCAGTCCAACC	0.602																																					p.L798L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2394A	17						.						151.0	112.0	125.0					17																	48604743		2203	4300	6503	45959742	SO:0001819	synonymous_variant	84073	exon15			BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.2394G>A	17.37:g.48604743G>A			45959742	NM_032133		Silent	SNP	ENST00000323776.5	37	CCDS32680.2																																																																																				0.602	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1	NM_032133	
SPATA20	64847	broad.mit.edu	37	17	48628080	48628080	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:48628080C>T	ENST00000356488.4	+	10	1220	c.1137C>T	c.(1135-1137)ttC>ttT	p.F379F	SPATA20_ENST00000393244.3_Silent_p.F335F|SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000006658.6_Silent_p.F395F	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	379					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	catalytic activity (GO:0003824)	p.F395F(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CCGGAGGCTTCTATAGCGCAG	0.672											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.F395F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1185T	17						.						46.0	56.0	53.0					17																	48628080		2203	4298	6501	45983079	SO:0001819	synonymous_variant	64847	exon11				CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"""hypothetical protein FLJ21347"""	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	ENST00000356488.4:c.1137C>T	17.37:g.48628080C>T		119	45983079	NM_022827	Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Silent	SNP	ENST00000356488.4	37	CCDS58563.1																																																																																				0.672	SPATA20-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367651.1	NM_022827	
CAMTA2	23125	broad.mit.edu	37	17	4875797	4875797	+	Silent	SNP	C	C	T	rs116050019	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:4875797C>T	ENST00000348066.3	-	16	2661	c.2538G>A	c.(2536-2538)tcG>tcA	p.S846S	RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000381311.5_Silent_p.S848S|CAMTA2_ENST00000361571.5_Silent_p.S845S|CAMTA2_ENST00000414043.3_Silent_p.S869S|CAMTA2_ENST00000358183.4_Silent_p.S846S|CAMTA2_ENST00000572543.1_Silent_p.S851S	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	846					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)	p.S846S(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AGGTGCCATCCGACAGCTCCG	0.632													C|||	11	0.00219649	0.0076	0.0014	5008	,	,		19497	0.0		0.0	False		,,,				2504	0.0				p.S846S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2538A	17						.	C	,,,	25,4379		0,25,2177	15.0	16.0	15.0		2544,2607,2535,2538	-5.8	0.5	17	dbSNP_132	15	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CAMTA2	NM_001171166.1,NM_001171167.1,NM_001171168.1,NM_015099.3	,,,	0,25,6474	TT,TC,CC		0.0,0.5677,0.1923	,,,	848/1198,869/1242,845/1202,846/1203	4875797	25,12973	2202	4297	6499	4816521	SO:0001819	synonymous_variant	23125	exon16			AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.2538G>A	17.37:g.4875797C>T			4816521	NM_015099	B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Silent	SNP	ENST00000348066.3	37	CCDS11063.1																																																																																				0.632	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099	
WFIKKN2	124857	broad.mit.edu	37	17	48918167	48918167	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:48918167C>T	ENST00000311378.4	+	2	2046	c.1518C>T	c.(1516-1518)gtC>gtT	p.V506V	WFIKKN2_ENST00000426127.1_Silent_p.V413V|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	506	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.V506V(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CATTGGAGGTCACTCTGCTTC	0.632																																					p.V506V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1518T	17						.						76.0	51.0	59.0					17																	48918167		2203	4300	6503	46273166	SO:0001819	synonymous_variant	124857	exon2			AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.1518C>T	17.37:g.48918167C>T			46273166	NM_175575	Q6UXZ9	Silent	SNP	ENST00000311378.4	37	CCDS11575.1																																																																																				0.632	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	NM_175575	
KIF2B	84643	broad.mit.edu	37	17	51900978	51900978	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:51900978G>A	ENST00000268919.4	+	1	740	c.584G>A	c.(583-585)cGc>cAc	p.R195H		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	195					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R195H(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAAGAGTATCGCAGGCACCTG	0.577																																					p.R195H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G584A	17						.						75.0	63.0	67.0					17																	51900978		2203	4300	6503	49255977	SO:0001583	missense	84643	exon1			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.584G>A	17.37:g.51900978G>A	ENSP00000268919:p.Arg195His		49255977	NM_032559	Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751987	0.69533	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.17854	2.25	5.37	5.37	0.77165	.	0.000000	0.51477	D	0.000095	T	0.37376	0.1001	M	0.68317	2.08	0.36511	D	0.869601	D	0.89917	1.0	D	0.78314	0.991	T	0.41945	-0.9480	10	0.87932	D	0	.	10.1314	0.42680	0.154:0.0:0.846:0.0	.	195	Q8N4N8	KIF2B_HUMAN	H	195;118	ENSP00000268919:R195H	ENSP00000268919:R195H	R	+	2	0	KIF2B	49255977	1.000000	0.71417	0.992000	0.48379	0.788000	0.44548	4.284000	0.58983	2.659000	0.90383	0.655000	0.94253	CGC		0.577	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559	
PCTP	58488	broad.mit.edu	37	17	53852215	53852215	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:53852215G>A	ENST00000268896.5	+	5	699	c.574G>A	c.(574-576)Gcc>Acc	p.A192T	PCTP_ENST00000576183.1_Missense_Mutation_p.A192T|PCTP_ENST00000325214.6_Missense_Mutation_p.A120T|PCTP_ENST00000573500.1_Missense_Mutation_p.A192T|PCTP_ENST00000576221.1_3'UTR	NM_021213.3	NP_067036.2	Q9UKL6	PPCT_HUMAN	phosphatidylcholine transfer protein	192	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|phospholipid transport (GO:0015914)	cytosol (GO:0005829)	phosphatidylcholine binding (GO:0031210)|phosphatidylcholine transporter activity (GO:0008525)	p.A192T(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10			BRCA - Breast invasive adenocarcinoma(1;0.00207)			TAACTGGGCCGCCAAGGTGAG	0.527																																					p.A192T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G574A	17						.						59.0	61.0	60.0					17																	53852215		2203	4300	6503	51207214	SO:0001583	missense	58488	exon5			AK024667	CCDS11588.1, CCDS45741.1	17q21-q24	2011-09-13				ENSG00000141179		"""StAR-related lipid transfer (START) domain containing"""	8752	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 2"""	606055					Standard	NM_021213		Approved	STARD2	uc002iul.4	Q9UKL6		ENST00000268896.5:c.574G>A	17.37:g.53852215G>A	ENSP00000268896:p.Ala192Thr		51207214	NM_021213	Q9BSC9|Q9UIT3|Q9UKW7	Missense_Mutation	SNP	ENST00000268896.5	37	CCDS11588.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480094	0.63849	.	.	ENSG00000141179	ENST00000268896;ENST00000417982;ENST00000325214	T	0.78816	-1.21	5.75	3.76	0.43208	Lipid-binding START (3);START-like domain (1);	0.057177	0.64402	N	0.000001	T	0.79464	0.4450	M	0.72479	2.2	0.58432	D	0.999996	D	0.61697	0.99	P	0.52424	0.698	T	0.75300	-0.3366	10	0.24483	T	0.36	6.2795	8.7969	0.34885	0.1721:0.0:0.8279:0.0	.	192	Q9UKL6	PPCT_HUMAN	T	192;120;171	ENSP00000268896:A192T	ENSP00000268896:A192T	A	+	1	0	PCTP	51207214	1.000000	0.71417	0.660000	0.29694	0.744000	0.42396	3.989000	0.56958	0.781000	0.33589	0.655000	0.94253	GCC		0.527	PCTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439271.2	NM_021213	
MIS12	79003	broad.mit.edu	37	17	5392744	5392744	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:5392744C>T	ENST00000381165.3	+	3	1115	c.562C>T	c.(562-564)Cta>Tta	p.L188L	MIS12_ENST00000573759.1_Silent_p.L188L|DERL2_ENST00000571968.1_5'Flank	NM_001258217.1|NM_001258219.1|NM_001258220.1|NM_024039.2	NP_001245146.1|NP_001245148.1|NP_001245149.1|NP_076944.1			MIS12 kinetochore complex component									p.L188L(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(2)	12						CTCCAGAAAACTACAGAACAT	0.388																																					p.L188L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C562T	17						.						112.0	113.0	113.0					17																	5392744		2203	4300	6503	5333468	SO:0001819	synonymous_variant	79003	exon3			AL136906	CCDS11074.1	17p13.3	2013-07-03	2013-07-03		ENSG00000167842	ENSG00000167842			24967	protein-coding gene	gene with protein product		609178	"""MIS12, MIND kinetochore complex component, homolog (yeast)"", ""MIS12, MIND kinetochore complex component, homolog (S. pombe)"""			11230166, 12515822	Standard	NM_001258217		Approved	MGC2488, hMIS12, KNTC2AP, MTW1	uc031qyj.1	Q9H081	OTTHUMG00000102042	ENST00000381165.3:c.562C>T	17.37:g.5392744C>T			5333468	NM_024039		Silent	SNP	ENST00000381165.3	37	CCDS11074.1																																																																																				0.388	MIS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219827.1	NM_024039	
NLRP1	22861	broad.mit.edu	37	17	5418353	5418353	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:5418353A>G	ENST00000572272.1	-	17	4142	c.4143T>C	c.(4141-4143)ttT>ttC	p.F1381F	NLRP1_ENST00000345221.3_Silent_p.F1337F|NLRP1_ENST00000577119.1_Silent_p.F1307F|NLRP1_ENST00000354411.3_Silent_p.F1351F|NLRP1_ENST00000262467.5_Intron|RNU7-31P_ENST00000517262.1_RNA|NLRP1_ENST00000269280.4_Silent_p.F1337F			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1381	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)	p.F1381F(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				ACTGGTCCACAAAGTGCAGCA	0.567																																					p.F1307F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3921C	17						.						54.0	58.0	57.0					17																	5418353		2112	4226	6338	5359077	SO:0001819	synonymous_variant	22861	exon15			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.4143T>C	17.37:g.5418353A>G			5359077	NM_033007	E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Silent	SNP	ENST00000572272.1	37	CCDS42246.1																																																																																				0.567	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004	
TRIM25	7706	broad.mit.edu	37	17	54969377	54969377	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:54969377A>G	ENST00000316881.4	-	9	1626	c.1577T>C	c.(1576-1578)gTa>gCa	p.V526A	RP11-670E13.5_ENST00000574826.1_RNA|TRIM25_ENST00000573108.1_5'Flank|TRIM25_ENST00000537230.1_Missense_Mutation_p.V526A|MIR3614_ENST00000581261.1_RNA	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	526	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)|response to estrogen (GO:0043627)|response to vitamin D (GO:0033280)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.V526A(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					GCAGATGCCTACCCCACAGAA	0.582																																					p.V526A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1577C	17						.						101.0	86.0	91.0					17																	54969377		2203	4300	6503	52324376	SO:0001583	missense	7706	exon9			D21205	CCDS11591.1	17q23.1	2013-01-09	2011-01-25	2004-03-30				"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12932	protein-coding gene	gene with protein product		600453	"""zinc finger protein 147 (estrogen-responsive finger protein)"", ""tripartite motif-containing 25"""	ZNF147		7789997	Standard	NM_005082		Approved	EFP, RNF147	uc002iut.3	Q14258		ENST00000316881.4:c.1577T>C	17.37:g.54969377A>G	ENSP00000323889:p.Val526Ala		52324376	NM_005082		Missense_Mutation	SNP	ENST00000316881.4	37	CCDS11591.1	.	.	.	.	.	.	.	.	.	.	A	18.21	3.572877	0.65765	.	.	ENSG00000121060	ENST00000316881;ENST00000537230	T;T	0.67345	-0.26;-0.26	4.72	4.72	0.59763	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.442567	0.19571	N	0.111088	T	0.61110	0.2321	L	0.48174	1.505	0.38788	D	0.954918	B	0.25667	0.131	B	0.22152	0.038	T	0.65076	-0.6256	10	0.87932	D	0	.	14.2076	0.65744	1.0:0.0:0.0:0.0	.	526	Q14258	TRI25_HUMAN	A	526	ENSP00000323889:V526A;ENSP00000445961:V526A	ENSP00000323889:V526A	V	-	2	0	TRIM25	52324376	0.991000	0.36638	0.964000	0.40570	0.899000	0.52679	9.140000	0.94607	1.761000	0.52028	0.418000	0.28097	GTA		0.582	TRIM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440609.1	NM_005082	
LPO	4025	broad.mit.edu	37	17	56326511	56326511	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:56326511G>A	ENST00000262290.4	+	5	732	c.416G>A	c.(415-417)cGc>cAc	p.R139H	LPO_ENST00000543544.1_Missense_Mutation_p.R80H|LPO_ENST00000421678.2_Missense_Mutation_p.R56H|LPO_ENST00000582328.1_Missense_Mutation_p.R56H	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	139					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)	p.R139H(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						AGCCCTTACCGCACCATTACG	0.627																																					p.R139H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G416A	17						.						93.0	79.0	83.0					17																	56326511		2203	4300	6503	53681510	SO:0001583	missense	4025	exon5			M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.416G>A	17.37:g.56326511G>A	ENSP00000262290:p.Arg139His		53681510	NM_006151	A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	ENST00000262290.4	37	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	G	35	5.497901	0.96355	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544	T;T;T	0.80824	-1.42;-1.42;-1.42	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.93697	0.7986	H	0.97564	4.03	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	1.0;1.0;1.0;1.0	D	0.95799	0.8831	10	0.87932	D	0	.	18.024	0.89263	0.0:0.0:1.0:0.0	.	56;56;80;139	B4DUH9;E7EMJ3;B4E1M1;P22079	.;.;.;PERL_HUMAN	H	139;56;80	ENSP00000262290:R139H;ENSP00000400245:R56H;ENSP00000445344:R80H	ENSP00000262290:R139H	R	+	2	0	LPO	53681510	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.276000	0.78559	2.492000	0.84095	0.650000	0.86243	CGC		0.627	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1		
RNF43	54894	broad.mit.edu	37	17	56435072	56435072	+	Missense_Mutation	SNP	C	C	T	rs367713404		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:56435072C>T	ENST00000584437.1	-	8	4020	c.2065G>A	c.(2065-2067)Gca>Aca	p.A689T	RNF43_ENST00000583753.1_Missense_Mutation_p.A648T|RNF43_ENST00000500597.2_Missense_Mutation_p.A648T|RNF43_ENST00000577625.1_Missense_Mutation_p.A562T|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Missense_Mutation_p.A689T|RNF43_ENST00000581868.1_Missense_Mutation_p.A562T|RNF43_ENST00000407977.2_Missense_Mutation_p.A689T			Q68DV7	RNF43_HUMAN	ring finger protein 43	689	Pro-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A689T(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAAGGATATGCCACACTGGGG	0.612																																					p.A689T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2065A	17						.	C	THR/ALA	0,4406		0,0,2203	92.0	104.0	100.0		2065	-0.7	1.0	17		100	1,8599	1.2+/-3.3	0,1,4299	no	missense	RNF43	NM_017763.4	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	689/784	56435072	1,13005	2203	4300	6503	53790071	SO:0001583	missense	54894	exon9				CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.2065G>A	17.37:g.56435072C>T	ENSP00000463069:p.Ala689Thr		53790071	NM_017763	A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.833691	0.32421	0.0	1.16E-4	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.08896	3.19;3.04	5.71	-0.74	0.11115	.	0.579177	0.16570	N	0.208674	T	0.04952	0.0133	N	0.17082	0.46	0.22435	N	0.999104	B;B;B	0.23806	0.013;0.091;0.013	B;B;B	0.23716	0.007;0.048;0.003	T	0.38779	-0.9645	10	0.39692	T	0.17	-18.7333	9.3806	0.38311	0.0:0.3124:0.5956:0.092	.	648;689;689	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	T	689;648	ENSP00000385328:A689T;ENSP00000441969:A648T	ENSP00000385328:A689T	A	-	1	0	RNF43	53790071	0.952000	0.32445	0.963000	0.40424	0.818000	0.46254	0.520000	0.22878	0.285000	0.22329	0.511000	0.50034	GCA		0.612	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763	
MTMR4	9110	broad.mit.edu	37	17	56573578	56573578	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:56573578A>G	ENST00000323456.5	-	16	2049	c.1925T>C	c.(1924-1926)gTa>gCa	p.V642A	MTMR4_ENST00000579925.1_Missense_Mutation_p.V585A	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	642					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.V642A(1)		breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTCCAGGCCTACCCTGACCTC	0.542																																					p.V642A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1925C	17						.						65.0	63.0	64.0					17																	56573578		2203	4300	6503	53928577	SO:0001583	missense	9110	exon16			AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.1925T>C	17.37:g.56573578A>G	ENSP00000325285:p.Val642Ala		53928577	NM_004687	D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	37	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	A	0.039	-1.291397	0.01375	.	.	ENSG00000108389	ENST00000323456	D	0.92805	-3.11	4.75	-4.93	0.03066	.	1.288990	0.05186	N	0.502244	D	0.83022	0.5164	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.72161	-0.4374	10	0.02654	T	1	.	6.5703	0.22535	0.3496:0.4173:0.2331:0.0	.	642	Q9NYA4	MTMR4_HUMAN	A	642	ENSP00000325285:V642A	ENSP00000325285:V642A	V	-	2	0	MTMR4	53928577	0.000000	0.05858	0.861000	0.33841	0.913000	0.54294	-0.102000	0.10956	-0.845000	0.04179	-0.313000	0.08912	GTA		0.542	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687	
TEX14	56155	broad.mit.edu	37	17	56676756	56676756	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:56676756T>C	ENST00000240361.8	-	14	2053	c.1968A>G	c.(1966-1968)ggA>ggG	p.G656G	TEX14_ENST00000389934.3_Silent_p.G650G|TEX14_ENST00000349033.5_Silent_p.G650G			Q8IWB6	TEX14_HUMAN	testis expressed 14	656					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)	p.G656G(1)|p.G650G(1)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCTGGTTAGGTCCGTCTGCCT	0.468																																					p.G650G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A1950G	17						.						120.0	118.0	119.0					17																	56676756		2203	4300	6503	54031755	SO:0001819	synonymous_variant	56155	exon14			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.1968A>G	17.37:g.56676756T>C			54031755	NM_198393	A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Silent	SNP	ENST00000240361.8	37	CCDS56042.1																																																																																				0.468	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1		
TEX14	56155	broad.mit.edu	37	17	56700213	56700213	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:56700213T>C	ENST00000240361.8	-	4	497	c.412A>G	c.(412-414)Acc>Gcc	p.T138A	TEX14_ENST00000389934.3_Missense_Mutation_p.T138A|TEX14_ENST00000349033.5_Missense_Mutation_p.T138A			Q8IWB6	TEX14_HUMAN	testis expressed 14	138					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)	p.T138A(2)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTTACCTGGGTGCTACGCTCC	0.577																																					p.T138A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A412G	17						.						117.0	88.0	98.0					17																	56700213		2203	4300	6503	54055212	SO:0001583	missense	56155	exon4			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.412A>G	17.37:g.56700213T>C	ENSP00000240361:p.Thr138Ala		54055212	NM_198393	A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	T	11.65	1.701151	0.30142	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.33654	1.4;1.4;1.4	5.03	2.77	0.32553	Ankyrin repeat-containing domain (2);	0.304538	0.30269	N	0.010016	T	0.14184	0.0343	N	0.12182	0.205	0.30903	N	0.729109	B;B;B	0.26935	0.021;0.164;0.035	B;B;B	0.22753	0.018;0.041;0.041	T	0.14783	-1.0460	10	0.09843	T	0.71	-2.039	3.3391	0.07111	0.0:0.2255:0.2326:0.5419	.	138;138;138	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	A	138	ENSP00000240361:T138A;ENSP00000374584:T138A;ENSP00000268910:T138A	ENSP00000240361:T138A	T	-	1	0	TEX14	54055212	0.463000	0.25799	0.979000	0.43373	0.952000	0.60782	-0.015000	0.12634	0.864000	0.35578	0.533000	0.62120	ACC		0.577	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1		
TRIM37	4591	broad.mit.edu	37	17	57119244	57119244	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:57119244A>G	ENST00000262294.7	-	17	1942	c.1683T>C	c.(1681-1683)gaT>gaC	p.D561D	TRIM37_ENST00000393066.3_Silent_p.D561D|TRIM37_ENST00000393065.2_Silent_p.D527D|TRIM37_ENST00000376149.3_Silent_p.D439D	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	561					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D561D(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TATATTCCACATCATTTTCTC	0.393									Mulibrey Nanism																												p.D561D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1683C	17						.						112.0	103.0	106.0					17																	57119244		2203	4300	6503	54474026	SO:0001819	synonymous_variant	4591	exon17	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.1683T>C	17.37:g.57119244A>G			54474026	NM_001005207	Q7Z3E6|Q8IYF7|Q8WYF7	Silent	SNP	ENST00000262294.7	37	CCDS32694.1																																																																																				0.393	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294	
SMG8	55181	broad.mit.edu	37	17	57290861	57290861	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:57290861T>C	ENST00000543872.2	+	4	2941	c.2677T>C	c.(2677-2679)Tca>Cca	p.S893P	SMG8_ENST00000300917.5_Missense_Mutation_p.S893P|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	893					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)		p.S893P(1)		NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						ATATATTCTGTCATCCTCTCA	0.423																																					p.S893P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2677C	17						.						115.0	120.0	119.0					17																	57290861		2203	4300	6503	54645643	SO:0001583	missense	55181	exon3			AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.2677T>C	17.37:g.57290861T>C	ENSP00000438748:p.Ser893Pro		54645643	NM_018149	Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	ENST00000543872.2	37	CCDS11615.1	.	.	.	.	.	.	.	.	.	.	T	17.17	3.320874	0.60634	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.51574	0.7;0.7	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.63260	0.2496	L	0.54323	1.7	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	T	0.61481	-0.7054	10	0.39692	T	0.17	-13.163	15.402	0.74849	0.0:0.0:0.0:1.0	.	893	Q8ND04	SMG8_HUMAN	P	893	ENSP00000300917:S893P;ENSP00000438748:S893P	ENSP00000300917:S893P	S	+	1	0	SMG8	54645643	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.109000	0.71528	2.223000	0.72356	0.533000	0.62120	TCA		0.423	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149	
TUBD1	51174	broad.mit.edu	37	17	57951900	57951900	+	Splice_Site	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:57951900C>A	ENST00000592426.1	-	5	934	c.934G>T	c.(934-936)Ggt>Tgt	p.G312C	TUBD1_ENST00000325752.3_Splice_Site_p.G312C|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000340993.6_Intron|TUBD1_ENST00000376094.4_Intron|TUBD1_ENST00000539018.1_Splice_Site_p.G96C|TUBD1_ENST00000394239.3_Splice_Site_p.G312C			Q9UJT1	TBD_HUMAN	tubulin, delta 1	312					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|protein polymerization (GO:0051258)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.G312C(1)		NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		Vinblastine(DB00570)	TACTCTTTACCTTCTTCCATC	0.418																																					p.G96C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G286T	17						.						190.0	188.0	188.0					17																	57951900		2203	4300	6503	55306682	SO:0001630	splice_region_variant	51174	exon3			AF201333	CCDS11620.1, CCDS54151.1, CCDS54152.1, CCDS54153.1, CCDS54154.1	17q23.1	2007-03-16						"""Tubulins"""	16811	protein-coding gene	gene with protein product		607344				10620804	Standard	NM_016261		Approved	FLJ12709, TUBD	uc002ixw.2	Q9UJT1		ENST00000592426.1:c.934+1G>T	17.37:g.57951900C>A			55306682	NM_001193613	B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Missense_Mutation	SNP	ENST00000592426.1	37	CCDS11620.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024559	0.75390	.	.	ENSG00000108423	ENST00000325752;ENST00000394239;ENST00000539018	T;T	0.78364	-1.17;-0.86	5.31	5.31	0.75309	Tubulin/FtsZ, C-terminal (1);	0.097701	0.64402	D	0.000001	D	0.82921	0.5142	M	0.78456	2.415	0.80722	D	1	P;P	0.46142	0.873;0.521	P;B	0.46975	0.533;0.289	D	0.83509	0.0079	9	.	.	.	-14.9395	19.3409	0.94340	0.0:1.0:0.0:0.0	.	312;312	E9PCA7;Q9UJT1	.;TBD_HUMAN	C	312;312;96	ENSP00000320797:G312C;ENSP00000377785:G312C	.	G	-	1	0	TUBD1	55306682	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.300000	0.78841	2.647000	0.89833	0.557000	0.71058	GGT		0.418	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448815.1	NM_016261	Missense_Mutation
CA4	762	broad.mit.edu	37	17	58234799	58234799	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:58234799C>T	ENST00000300900.4	+	4	379	c.280C>T	c.(280-282)Ctg>Ttg	p.L94L		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	94					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|organ development (GO:0048513)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.L94L(1)		kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	GATGATGTTGCTGGAGAACAA	0.572																																					p.L94L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C280T	17						.						104.0	76.0	85.0					17																	58234799		2203	4300	6503	55589581	SO:0001819	synonymous_variant	762	exon4			L10955	CCDS11624.1	17q23.1	2012-08-21			ENSG00000167434	ENSG00000167434	4.2.1.1	"""Carbonic anhydrases"""	1375	protein-coding gene	gene with protein product		114760	"""retinitis pigmentosa 17 (autosomal dominant)"""	RP17		8325641	Standard	NM_000717		Approved	CAIV, Car4	uc002iym.4	P22748		ENST00000300900.4:c.280C>T	17.37:g.58234799C>T			55589581	NM_000717	B4DQA4|Q6FHI7	Silent	SNP	ENST00000300900.4	37	CCDS11624.1																																																																																				0.572	CA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449189.1	NM_000717	
INTS2	57508	broad.mit.edu	37	17	59989401	59989401	+	Missense_Mutation	SNP	C	C	T	rs554961043		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:59989401C>T	ENST00000444766.3	-	6	779	c.704G>A	c.(703-705)cGa>cAa	p.R235Q	INTS2_ENST00000251334.6_Missense_Mutation_p.R227Q	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	235					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)		p.R235Q(1)		NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						TTCATCTTGTCGTTCTCCATT	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		15164	0.001		0.0	False		,,,				2504	0.0				p.R235Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G704A	17						.						207.0	207.0	207.0					17																	59989401		1896	4108	6004	57344183	SO:0001583	missense	57508	exon6			AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"""KIAA1287"""	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.704G>A	17.37:g.59989401C>T	ENSP00000414237:p.Arg235Gln		57344183	NM_020748	Q9ULD3	Missense_Mutation	SNP	ENST00000444766.3	37	CCDS45750.1	.	.	.	.	.	.	.	.	.	.	C	34	5.319038	0.95682	.	.	ENSG00000108506	ENST00000444766;ENST00000251334	T	0.46063	0.88	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.51160	0.1658	L	0.58101	1.795	0.80722	D	1	D	0.60575	0.988	P	0.50708	0.648	T	0.51212	-0.8734	9	.	.	.	-8.2026	18.2392	0.89961	0.0:1.0:0.0:0.0	.	235	Q9H0H0	INT2_HUMAN	Q	235;234	ENSP00000414237:R235Q	.	R	-	2	0	INTS2	57344183	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.627000	0.67784	2.377000	0.81083	0.655000	0.94253	CGA		0.433	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	NM_020748	
EFCAB3	146779	broad.mit.edu	37	17	60493512	60493512	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:60493512G>A	ENST00000305286.3	+	10	1217	c.1139G>A	c.(1138-1140)tGg>tAg	p.W380*	EFCAB3_ENST00000450662.2_Nonsense_Mutation_p.W432*	NM_173503.3	NP_775774.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	380							calcium ion binding (GO:0005509)	p.W380*(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			ACTTATACATGGTCCTGGAAT	0.408																																					p.W380X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1139A	17						.						90.0	94.0	92.0					17																	60493512		2203	4300	6503	57847244	SO:0001587	stop_gained	146779	exon10			AK098684	CCDS11632.1, CCDS45751.1	17q23.3	2013-01-10			ENSG00000172421	ENSG00000172421		"""EF-hand domain containing"""	26379	protein-coding gene	gene with protein product						12477932	Standard	NM_173503		Approved	FLJ25818	uc010wpc.2	Q8N7B9	OTTHUMG00000179175	ENST00000305286.3:c.1139G>A	17.37:g.60493512G>A	ENSP00000302649:p.Trp380*		57847244	NM_173503	J3KQM8	Nonsense_Mutation	SNP	ENST00000305286.3	37	CCDS11632.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.798187	0.90538	.	.	ENSG00000172421	ENST00000450662;ENST00000305286	.	.	.	4.94	3.95	0.45737	.	0.104176	0.44285	D	0.000478	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6433	0.56721	0.0:0.1666:0.8333:0.0	.	.	.	.	X	432;380	.	ENSP00000302649:W380X	W	+	2	0	EFCAB3	57847244	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.978000	0.63799	1.404000	0.46819	0.555000	0.69702	TGG		0.408	EFCAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379114.1	NM_173503	
STRADA	92335	broad.mit.edu	37	17	61781918	61781918	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:61781918T>A	ENST00000336174.6	-	11	995	c.883A>T	c.(883-885)Aca>Tca	p.T295S	STRADA_ENST00000582137.1_Missense_Mutation_p.T266S|STRADA_ENST00000579340.1_3'UTR|STRADA_ENST00000245865.5_3'UTR|STRADA_ENST00000392950.4_Missense_Mutation_p.T258S|STRADA_ENST00000375840.4_Missense_Mutation_p.T237S|STRADA_ENST00000447001.3_Missense_Mutation_p.T251S|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000580039.1_5'UTR	NM_001003787.2	NP_001003787.1	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	295	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|protein export from nucleus (GO:0006611)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.T295S(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						CAGGGCACTGTGCCGTTCAGT	0.637																																					p.T266S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A796T	17						.						51.0	54.0	53.0					17																	61781918		2203	4299	6502	59135650	SO:0001583	missense	92335	exon9			AF308302	CCDS11642.1, CCDS32703.1, CCDS42367.1, CCDS54156.1, CCDS58585.1	17q23.3	2014-09-04			ENSG00000266173	ENSG00000266173			30172	protein-coding gene	gene with protein product	"""STE20-like pseudokinase"""	608626				12805220, 17921699	Standard	NM_153335		Approved	NY-BR-96, LYK5, Stlk, STRAD	uc002jbm.3	Q7RTN6	OTTHUMG00000178908	ENST00000336174.6:c.883A>T	17.37:g.61781918T>A	ENSP00000336655:p.Thr295Ser		59135650	NM_001165969	B4DDE3|B4DW17|J3KTC9|Q5JPI2|Q7Z4K9|Q8NC31|Q8NCF1|Q9H272	Missense_Mutation	SNP	ENST00000336174.6	37	CCDS32703.1	.	.	.	.	.	.	.	.	.	.	T	13.89	2.371366	0.42003	.	.	ENSG00000125695	ENST00000336174;ENST00000375840;ENST00000447001;ENST00000392950;ENST00000245865	T;T;T;T	0.64438	-0.1;-0.1;0.44;-0.1	4.8	4.8	0.61643	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.62588	0.2440	N	0.17872	0.535	0.80722	D	1	P;P;D;D;D;D	0.76494	0.717;0.825;0.999;0.989;0.998;0.999	B;B;D;P;D;D	0.71184	0.396;0.409;0.957;0.874;0.928;0.972	T	0.57112	-0.7867	10	0.11794	T	0.64	.	14.5131	0.67802	0.0:0.0:0.0:1.0	.	266;251;237;258;258;295	B4DW17;B4DDE3;Q5JPI2;Q7RTN6-2;Q7RTN6-3;Q7RTN6	.;.;.;.;.;STRAA_HUMAN	S	295;237;251;258;257	ENSP00000336655:T295S;ENSP00000365000:T237S;ENSP00000398841:T251S;ENSP00000376677:T258S	ENSP00000245865:T257S	T	-	1	0	STRADA	59135650	1.000000	0.71417	0.995000	0.50966	0.646000	0.38490	5.584000	0.67490	2.016000	0.59253	0.402000	0.26972	ACA		0.637	STRADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443894.1		
PSMC5	5705	broad.mit.edu	37	17	61902633	61902633	+	5'Flank	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:61902633A>G	ENST00000310144.6	+	0	0				FTSJ3_ENST00000427159.2_Silent_p.H188H|PSMC5_ENST00000375812.4_5'Flank|FTSJ3_ENST00000580295.1_5'Flank|PSMC5_ENST00000580864.1_5'Flank|PSMC5_ENST00000581882.1_5'Flank	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.H188H(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						CTGCAGATTCATGGCGAGAGG	0.498																																					p.H188H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T564C	17						.						60.0	63.0	62.0					17																	61902633		2203	4300	6503	59256365	SO:0001631	upstream_gene_variant	117246	exon7			L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195			17.37:g.61902633A>G	Exception_encountered		59256365	NM_017647	A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Silent	SNP	ENST00000310144.6	37	CCDS11645.1																																																																																				0.498	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805	
GH1	2688	broad.mit.edu	37	17	61994782	61994782	+	Missense_Mutation	SNP	C	C	T	rs371051668		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:61994782C>T	ENST00000323322.5	-	5	583	c.541G>A	c.(541-543)Gca>Aca	p.A181T	GH1_ENST00000351388.4_Missense_Mutation_p.A141T|GH1_ENST00000342364.4_Missense_Mutation_p.A86T|GH1_ENST00000458650.2_Missense_Mutation_p.A166T|CSHL1_ENST00000392824.4_Intron	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	181					bone maturation (GO:0070977)|glucose transport (GO:0015758)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|growth hormone receptor binding (GO:0005131)|metal ion binding (GO:0046872)|prolactin receptor binding (GO:0005148)	p.A181T(1)|p.A181S(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						TTGAGTAGTGCGTCATCGTTG	0.552																																					p.A141T												.	.	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)	c.G421A	17						.	C	,THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	268.0	207.0	228.0		,256,421,496,541	2.6	0.3	17		228	1,8599	1.2+/-3.3	0,1,4299	no	utr-3,missense,missense,missense,missense	GH1	NM_022562.2,NM_022561.2,NM_022560.2,NM_022559.2,NM_000515.3	,58,58,58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,benign,benign,benign,benign	,86/123,141/178,166/203,181/218	61994782	1,13005	2203	4300	6503	59348514	SO:0001583	missense	2688	exon4			M13438	CCDS11653.1, CCDS11654.1, CCDS45760.1	17q22-q24	2014-01-30				ENSG00000259384		"""Endogenous ligands"""	4261	protein-coding gene	gene with protein product	"""pituitary growth hormone"", ""somatotropin"""	139250				6306568	Standard	XM_005257218		Approved	GH-N, GHN, GH, hGH-N	uc002jdj.3	P01241		ENST00000323322.5:c.541G>A	17.37:g.61994782C>T	ENSP00000312673:p.Ala181Thr		59348514	NM_022560	A6NEF6|Q14405|Q16631|Q5EB53|Q9HBZ1|Q9UMJ7|Q9UNL5	Missense_Mutation	SNP	ENST00000323322.5	37	CCDS11653.1	.	.	.	.	.	.	.	.	.	.	c	7.727	0.698337	0.15106	0.0	1.16E-4	ENSG00000204414	ENST00000323322;ENST00000458650;ENST00000351388;ENST00000342364	D;D;D;D	0.88975	-2.42;-2.42;-2.45;-2.45	2.62	2.62	0.31277	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.414085	0.24269	N	0.040005	T	0.82010	0.4944	L	0.28740	0.885	0.36814	D	0.886067	B;B;B;B	0.18863	0.002;0.031;0.001;0.0	B;B;B;B	0.24006	0.012;0.05;0.001;0.004	T	0.80226	-0.1470	10	0.35671	T	0.21	.	12.2254	0.54457	0.0:1.0:0.0:0.0	.	86;141;181;166	B1A4G9;A6NEF6;P01241;B1A4G7	.;.;SOMA_HUMAN;.	T	181;166;141;86	ENSP00000312673:A181T;ENSP00000408486:A166T;ENSP00000343791:A141T;ENSP00000339278:A86T	ENSP00000312673:A181T	A	-	1	0	GH1	59348514	0.434000	0.25570	0.296000	0.24974	0.136000	0.21042	0.828000	0.27435	1.470000	0.48102	0.298000	0.19748	GCA		0.552	GH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417708.1	NM_000515	
WSCD1	23302	broad.mit.edu	37	17	6023709	6023709	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:6023709C>T	ENST00000574946.1	+	9	1846	c.1456C>T	c.(1456-1458)Ctg>Ttg	p.L486L	WSCD1_ENST00000573634.1_Silent_p.L370L|WSCD1_ENST00000317744.5_Silent_p.L486L|WSCD1_ENST00000539421.1_Silent_p.L486L|WSCD1_ENST00000574232.1_Silent_p.L486L			Q658N2	WSCD1_HUMAN	WSC domain containing 1	486						integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)	p.L486L(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GAAGCGGCTGCTGGTGGTGCA	0.632																																					p.L486L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1456T	17						.						115.0	109.0	111.0					17																	6023709		2203	4300	6503	5964433	SO:0001819	synonymous_variant	23302	exon9				CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.1456C>T	17.37:g.6023709C>T			5964433	NM_015253	A8K0N8|D3DTM3|O60276|Q96G45	Silent	SNP	ENST00000574946.1	37	CCDS32538.1																																																																																				0.632	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253	
SCN4A	6329	broad.mit.edu	37	17	62022142	62022142	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:62022142T>C	ENST00000435607.1	-	21	3879	c.3803A>G	c.(3802-3804)aAc>aGc	p.N1268S	SCN4A_ENST00000578147.1_Missense_Mutation_p.N1268S	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1268					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.N1268S(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CATGTAGAGGTTCACCTCGTA	0.562																																					p.N1268S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3803G	17						.						128.0	130.0	129.0					17																	62022142		2178	4292	6470	59375874	SO:0001583	missense	6329	exon21			U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3803A>G	17.37:g.62022142T>C	ENSP00000396320:p.Asn1268Ser		59375874	NM_000334	Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	T	19.62	3.862049	0.71949	.	.	ENSG00000007314	ENST00000435607	D	0.98296	-4.85	3.49	3.49	0.39957	Ion transport (1);	0.114478	0.64402	D	0.000014	D	0.97207	0.9087	L	0.31207	0.915	0.51012	D	0.999909	D	0.63880	0.993	P	0.61874	0.895	D	0.96063	0.9040	10	0.36615	T	0.2	.	11.6187	0.51104	0.0:0.0:0.0:1.0	.	1268	P35499	SCN4A_HUMAN	S	1268	ENSP00000396320:N1268S	ENSP00000396320:N1268S	N	-	2	0	SCN4A	59375874	1.000000	0.71417	0.997000	0.53966	0.958000	0.62258	7.825000	0.86693	1.596000	0.50062	0.379000	0.24179	AAC		0.562	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334	
ABCA9	10350	broad.mit.edu	37	17	67016615	67016615	+	Silent	SNP	G	G	A	rs373353580		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:67016615G>A	ENST00000340001.4	-	19	2725	c.2514C>T	c.(2512-2514)ggC>ggT	p.G838G	ABCA9_ENST00000453985.2_Silent_p.G838G|ABCA9_ENST00000370732.2_Silent_p.G838G|ABCA9-AS1_ENST00000458677.1_RNA	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	838					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.G838G(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AGAGCGCCACGCCACTGATTG	0.443																																					p.G838G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2514T	17						.	G		1,4405	2.1+/-5.4	0,1,2202	116.0	108.0	111.0		2514	5.1	0.8	17		111	0,8600		0,0,4300	no	coding-synonymous	ABCA9	NM_080283.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		838/1625	67016615	1,13005	2203	4300	6503	64528210	SO:0001819	synonymous_variant	10350	exon19			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.2514C>T	17.37:g.67016615G>A			64528210	NM_080283	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Silent	SNP	ENST00000340001.4	37	CCDS11681.1																																																																																				0.443	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386	
TEKT1	83659	broad.mit.edu	37	17	6718499	6718499	+	Silent	SNP	G	G	A	rs146275248	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:6718499G>A	ENST00000338694.2	-	5	741	c.612C>T	c.(610-612)gcC>gcT	p.A204A	TEKT1_ENST00000535086.1_Silent_p.A58A	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	204						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.A204A(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				CAATCCTCACGGCGTTCTCAG	0.517													G|||	6	0.00119808	0.0045	0.0	5008	,	,		18210	0.0		0.0	False		,,,				2504	0.0				p.A204A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C612T	17						.	G		8,4398	15.5+/-35.6	0,8,2195	210.0	187.0	195.0		612	-5.1	0.0	17	dbSNP_134	195	0,8600		0,0,4300	no	coding-synonymous	TEKT1	NM_053285.1		0,8,6495	AA,AG,GG		0.0,0.1816,0.0615		204/419	6718499	8,12998	2203	4300	6503	6659223	SO:0001819	synonymous_variant	83659	exon5				CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.612C>T	17.37:g.6718499G>A			6659223	NM_053285	D3DTM7	Silent	SNP	ENST00000338694.2	37	CCDS11083.1																																																																																				0.517	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219867.2	NM_053285	
KCNJ2	3759	broad.mit.edu	37	17	68171833	68171833	+	Missense_Mutation	SNP	G	G	A	rs199473384		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:68171833G>A	ENST00000243457.3	+	2	1036	c.653G>A	c.(652-654)cGg>cAg	p.R218Q	KCNJ2_ENST00000535240.1_Missense_Mutation_p.R218Q	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	218			R -> W (in LQT7; loss of function and dominant-negative effect in current).		cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)	p.R218Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					GGCAATCTTCGGAAAAGCCAC	0.468																																					p.R218Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G653A	17	GRCh37	CM013394	KCNJ2	M		.						107.0	97.0	100.0					17																	68171833		2203	4300	6503	65683428	SO:0001583	missense	3759	exon2			AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.653G>A	17.37:g.68171833G>A	ENSP00000243457:p.Arg218Gln		65683428	NM_000891	O15110|P48049	Missense_Mutation	SNP	ENST00000243457.3	37	CCDS11688.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273091	0.80580	.	.	ENSG00000123700	ENST00000535240;ENST00000243457	D;D	0.96913	-4.17;-4.17	5.76	5.76	0.90799	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.98413	0.9472	M	0.87617	2.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98588	1.0653	9	.	.	.	.	19.9664	0.97271	0.0:0.0:1.0:0.0	.	218	P63252	IRK2_HUMAN	Q	218	ENSP00000441848:R218Q;ENSP00000243457:R218Q	.	R	+	2	0	KCNJ2	65683428	1.000000	0.71417	0.887000	0.34795	0.781000	0.44180	9.869000	0.99810	2.718000	0.92993	0.655000	0.94253	CGG		0.468	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	NM_000891	
SLC39A11	201266	broad.mit.edu	37	17	70645084	70645084	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:70645084C>T	ENST00000542342.2	-	9	896	c.808G>A	c.(808-810)Ggc>Agc	p.G270S	SLC39A11_ENST00000255559.3_Missense_Mutation_p.G263S|SLC39A11_ENST00000579988.1_5'UTR	NM_001159770.1	NP_001153242.1	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11	270					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.G263S(1)		endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						TCCACCATGCCGCTCAGCTGC	0.627																																					p.G270S	NSCLC(95;736 1527 12296 39625 41839)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G808A	17						.						32.0	32.0	32.0					17																	70645084		2200	4299	6499	68156679	SO:0001583	missense	201266	exon9			AF331643	CCDS11690.1, CCDS54160.1	17q24.3-q25.1	2014-08-12	2013-07-17	2003-10-24	ENSG00000133195	ENSG00000133195		"""Solute carriers"""	14463	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 26"""	C17orf26		11707075	Standard	NM_139177		Approved		uc002jjb.3	Q8N1S5	OTTHUMG00000178306	ENST00000542342.2:c.808G>A	17.37:g.70645084C>T	ENSP00000445829:p.Gly270Ser		68156679	NM_001159770	B2R8H7|Q8WZ81	Missense_Mutation	SNP	ENST00000542342.2	37	CCDS54160.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.982637	0.53827	.	.	ENSG00000133195	ENST00000542342;ENST00000255559	T;T	0.42900	0.96;0.96	5.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.66607	0.2806	M	0.81682	2.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72734	-0.4204	10	0.87932	D	0	.	15.3722	0.74573	0.1406:0.8594:0.0:0.0	.	270;263	Q8N1S5;Q8N1S5-2	S39AB_HUMAN;.	S	270;263	ENSP00000445829:G270S;ENSP00000255559:G263S	ENSP00000255559:G263S	G	-	1	0	SLC39A11	68156679	1.000000	0.71417	0.888000	0.34837	0.954000	0.61252	7.101000	0.76997	1.258000	0.44101	0.655000	0.94253	GGC		0.627	SLC39A11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441442.1		
C17orf80	55028	broad.mit.edu	37	17	71231639	71231639	+	Silent	SNP	C	C	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:71231639C>G	ENST00000535032.2	+	2	131	c.18C>G	c.(16-18)ccC>ccG	p.P6P	C17orf80_ENST00000268942.8_Silent_p.P6P|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000426147.2_Silent_p.P6P|C17orf80_ENST00000359042.2_Silent_p.P6P|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000255557.4_Silent_p.P6P|C17orf80_ENST00000577615.1_Silent_p.P6P			Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	6						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.P6P(1)		kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			ATAATCCACCCAGAATGGAAG	0.353																																					p.P6P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C18G	17						.						65.0	53.0	57.0					17																	71231639		2203	4300	6503	68743234	SO:0001819	synonymous_variant	55028	exon3			AY163812	CCDS11694.1, CCDS42377.1, CCDS45767.1, CCDS74145.1	17q25.1	2012-02-24	2012-02-24	2012-02-24	ENSG00000141219	ENSG00000141219			29601	protein-coding gene	gene with protein product	"""sperm-expressed protein 1"", ""migration-inducing protein 3"""					12477932	Standard	NM_017941		Approved	HLC-8, MIG3, FLJ20721, SPEP1	uc002jjl.4	Q9BSJ5		ENST00000535032.2:c.18C>G	17.37:g.71231639C>G			68743234	NM_001100622	A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5	Silent	SNP	ENST00000535032.2	37	CCDS11694.1																																																																																				0.353	C17orf80-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441893.1	NM_017941	
SDK2	54549	broad.mit.edu	37	17	71354278	71354278	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:71354278A>G	ENST00000392650.3	-	40	5533	c.5533T>C	c.(5533-5535)Tcc>Ccc	p.S1845P	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.S1826P	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1845	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.S1845P(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TCTCCGCTGGACCAGTGAATG	0.652																																					p.S1845P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T5533C	17						.						145.0	133.0	137.0					17																	71354278		2203	4300	6503	68865873	SO:0001583	missense	54549	exon40			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.5533T>C	17.37:g.71354278A>G	ENSP00000376421:p.Ser1845Pro		68865873	NM_001144952	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	A	15.99	2.995813	0.54147	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893;ENST00000410094	T;T;T	0.59638	0.25;0.25;0.25	5.12	4.01	0.46588	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.274078	0.36628	N	0.002499	T	0.51753	0.1693	L	0.50993	1.605	0.43179	D	0.994997	B;B;B	0.31599	0.055;0.33;0.282	B;B;B	0.37480	0.033;0.251;0.162	T	0.48647	-0.9017	10	0.42905	T	0.14	.	7.7631	0.28963	0.7192:0.1434:0.0:0.1375	.	1845;1845;1826	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	P	1469;1845;1826;1002;1845;186	ENSP00000376421:S1845P;ENSP00000373378:S1826P;ENSP00000407098:S1002P	ENSP00000324967:S1845P	S	-	1	0	SDK2	68865873	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.818000	0.39012	0.757000	0.33036	0.533000	0.62120	TCC		0.652	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064	
SLC9A3R1	9368	broad.mit.edu	37	17	72758257	72758257	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:72758257A>T	ENST00000262613.5	+	2	743	c.548A>T	c.(547-549)gAc>gTc	p.D183V	SLC9A3R1_ENST00000413388.2_Missense_Mutation_p.D27V	NM_004252.4	NP_004243.1	O14745	NHRF1_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1	183	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|bile acid secretion (GO:0032782)|cellular phosphate ion homeostasis (GO:0030643)|cellular protein localization (GO:0034613)|glutathione transport (GO:0034635)|microvillus assembly (GO:0030033)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of sodium:proton antiporter activity (GO:0032416)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|protein complex assembly (GO:0006461)|regulation of excretion (GO:0044062)|regulation of protein kinase activity (GO:0045859)|regulation of sodium:proton antiporter activity (GO:0032415)|renal absorption (GO:0070293)|renal phosphate ion absorption (GO:0097291)|renal sodium ion transport (GO:0003096)|Wnt signaling pathway (GO:0016055)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|membrane raft (GO:0045121)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle (GO:0031982)	beta-2 adrenergic receptor binding (GO:0031698)|beta-catenin binding (GO:0008013)|chloride channel regulator activity (GO:0017081)|growth factor receptor binding (GO:0070851)|PDZ domain binding (GO:0030165)|phosphatase binding (GO:0019902)|protein self-association (GO:0043621)|receptor binding (GO:0005102)	p.D183V(1)		large_intestine(4)	4						CGGTCAGTGGACCCAGACTCC	0.622																																					p.D183V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A548T	17						.						76.0	75.0	76.0					17																	72758257		2203	4300	6503	70269852	SO:0001583	missense	9368	exon2			AF015926	CCDS11705.1	17q25.1	2014-09-04	2012-03-22		ENSG00000109062	ENSG00000109062			11075	protein-coding gene	gene with protein product		604990	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 1"", ""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 1"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1"""			9314537, 9430655	Standard	NM_004252		Approved	NHERF, EBP50	uc002jlo.4	O14745	OTTHUMG00000178863	ENST00000262613.5:c.548A>T	17.37:g.72758257A>T	ENSP00000262613:p.Asp183Val		70269852	NM_004252	B3KY21|O43552|Q86WQ5	Missense_Mutation	SNP	ENST00000262613.5	37	CCDS11705.1	.	.	.	.	.	.	.	.	.	.	A	18.26	3.585204	0.66105	.	.	ENSG00000109062	ENST00000262613;ENST00000413388	T	0.24151	1.87	5.14	5.14	0.70334	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.36026	0.0952	L	0.31294	0.92	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.06881	-1.0802	10	0.14656	T	0.56	-9.0457	14.9517	0.71080	1.0:0.0:0.0:0.0	.	183	O14745	NHRF1_HUMAN	V	183;133	ENSP00000262613:D183V	ENSP00000262613:D183V	D	+	2	0	SLC9A3R1	70269852	1.000000	0.71417	1.000000	0.80357	0.220000	0.24768	9.262000	0.95591	1.928000	0.55862	0.379000	0.24179	GAC		0.622	SLC9A3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443671.1		
DVL2	1856	broad.mit.edu	37	17	7132339	7132339	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:7132339A>G	ENST00000005340.5	-	9	1265	c.983T>C	c.(982-984)aTg>aCg	p.M328T	DVL2_ENST00000574642.1_5'Flank|DVL2_ENST00000575458.1_Missense_Mutation_p.M322T	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	328	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)	p.M328T(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						ATCGTTGCTCATGTTCTCAAA	0.577																																					p.M328T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T983C	17						.						135.0	112.0	120.0					17																	7132339		2203	4300	6503	7073063	SO:0001583	missense	1856	exon9			BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"""Dishevelled homologs"""	3086	protein-coding gene	gene with protein product		602151	"""dishevelled 2 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 2 (Drosophila)"""			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.983T>C	17.37:g.7132339A>G	ENSP00000005340:p.Met328Thr		7073063	NM_004422	D3DTN3|Q53XM0	Missense_Mutation	SNP	ENST00000005340.5	37	CCDS11091.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.021506	0.75275	.	.	ENSG00000004975	ENST00000005340	T	0.29655	1.56	5.25	5.25	0.73442	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.52306	0.1726	M	0.67569	2.06	0.80722	D	1	D;D	0.62365	0.991;0.991	P;D	0.69824	0.897;0.966	T	0.55976	-0.8055	10	0.87932	D	0	-17.0444	13.1039	0.59237	1.0:0.0:0.0:0.0	.	322;328	B4DLQ0;O14641	.;DVL2_HUMAN	T	328	ENSP00000005340:M328T	ENSP00000005340:M328T	M	-	2	0	DVL2	7073063	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.307000	0.96226	1.998000	0.58463	0.454000	0.30748	ATG		0.577	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422	
ACAP1	9744	broad.mit.edu	37	17	7250184	7250184	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:7250184G>A	ENST00000158762.3	+	13	1271	c.1065G>A	c.(1063-1065)gtG>gtA	p.V355V		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	355	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.V355V(1)		NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						TCAGTGCTGTGCAGAGCAGCA	0.647																																					p.V355V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1065A	17						.						86.0	83.0	84.0					17																	7250184		2203	4300	6503	7190908	SO:0001819	synonymous_variant	9744	exon13			D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16467	protein-coding gene	gene with protein product		607763	"""centaurin, beta 1"""	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.1065G>A	17.37:g.7250184G>A			7190908	NM_014716	Q53XN9	Silent	SNP	ENST00000158762.3	37	CCDS11101.1																																																																																				0.647	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4	NM_014716	
FADS6	283985	broad.mit.edu	37	17	72875545	72875545	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:72875545T>C	ENST00000310226.6	-	5	909	c.895A>G	c.(895-897)Atg>Gtg	p.M299V		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	305					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)	p.M299V(1)		endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					TTCAGGCACATGTTATCAGAG	0.587																																					p.M299V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A895G	17						.						52.0	54.0	53.0					17																	72875545		1960	4145	6105	70387140	SO:0001583	missense	283985	exon5			AK094411	CCDS54163.1	17q25.1	2014-07-17	2013-01-25			ENSG00000172782		"""Fatty acid desaturases"""	30459	protein-coding gene	gene with protein product			"""fatty acid desaturase domain family, member 6"""				Standard	XM_005257224		Approved		uc002jmd.1	Q8N9I5		ENST00000310226.6:c.895A>G	17.37:g.72875545T>C	ENSP00000307821:p.Met299Val		70387140	NM_178128	Q17RQ7|Q6XYE1	Missense_Mutation	SNP	ENST00000310226.6	37	CCDS54163.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.320055	0.81469	.	.	ENSG00000172782	ENST00000310226;ENST00000413142	T	0.16743	2.32	5.54	5.54	0.83059	Fatty acid desaturase, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.41282	0.1152	M	0.72894	2.215	0.44780	D	0.997782	D;D	0.76494	0.999;0.992	D;D	0.79108	0.992;0.987	T	0.15723	-1.0427	10	0.38643	T	0.18	-19.9148	15.6853	0.77405	0.0:0.0:0.0:1.0	.	153;305	B4DEP0;Q8N9I5	.;FADS6_HUMAN	V	299;153	ENSP00000307821:M299V	ENSP00000307821:M299V	M	-	1	0	FADS6	70387140	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	7.399000	0.79935	2.093000	0.63338	0.533000	0.62120	ATG		0.587	FADS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445219.1		
DNAH2	146754	broad.mit.edu	37	17	7720984	7720984	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:7720984G>A	ENST00000572933.1	+	66	11586	c.10126G>A	c.(10126-10128)Gcc>Acc	p.A3376T	DNAH2_ENST00000389173.2_Missense_Mutation_p.A3376T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3376	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A3376T(2)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCCCTCAGACGCCTTCTCCAC	0.597																																					p.A3376T												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G10126A	17						.						82.0	79.0	80.0					17																	7720984		2203	4300	6503	7661709	SO:0001583	missense	146754	exon65			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.10126G>A	17.37:g.7720984G>A	ENSP00000458355:p.Ala3376Thr		7661709	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	9.962	1.223185	0.22457	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.64260	-0.09	5.36	1.68	0.24146	.	0.582642	0.17783	N	0.162147	T	0.40909	0.1136	L	0.27975	0.815	0.80722	D	1	B;B	0.25667	0.045;0.131	B;B	0.23275	0.027;0.045	T	0.09143	-1.0688	10	0.18276	T	0.48	.	5.7723	0.18259	0.1167:0.0:0.4368:0.4465	.	3337;3376	Q9P225-2;Q9P225	.;DYH2_HUMAN	T	3337;3376	ENSP00000373825:A3376T	ENSP00000353818:A3337T	A	+	1	0	DNAH2	7661709	0.988000	0.35896	0.994000	0.49952	0.884000	0.51177	1.591000	0.36665	0.601000	0.29879	0.557000	0.71058	GCC		0.597	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
TNRC6C	57690	broad.mit.edu	37	17	76046514	76046514	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:76046514C>T	ENST00000588061.1	+	5	2098	c.1371C>T	c.(1369-1371)aaC>aaT	p.N457N	TNRC6C_ENST00000301624.4_Silent_p.N457N|TNRC6C_ENST00000544502.1_Silent_p.N457N|TNRC6C_ENST00000541771.1_Silent_p.N457N|TNRC6C_ENST00000335749.4_Silent_p.N457N|TNRC6C_ENST00000588847.1_Silent_p.N457N			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	457	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.N457N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TAAAGCAAAACACTGCCTGGG	0.483																																					p.N457N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1371T	17						.						98.0	97.0	97.0					17																	76046514		1880	4111	5991	73558109	SO:0001819	synonymous_variant	57690	exon4			AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.1371C>T	17.37:g.76046514C>T			73558109	NM_018996	G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Silent	SNP	ENST00000588061.1	37	CCDS45798.1																																																																																				0.483	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996	
CHD3	1107	broad.mit.edu	37	17	7796733	7796733	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:7796733G>A	ENST00000330494.7	+	5	789	c.639G>A	c.(637-639)gcG>gcA	p.A213A	CHD3_ENST00000380358.4_Silent_p.A272A|CHD3_ENST00000358181.4_Silent_p.A213A	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	213	Poly-Ala.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A213A(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				cggcggcagcggcagcagcag	0.632																																					p.A213A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G639A	17						.						17.0	18.0	17.0					17																	7796733		2201	4291	6492	7737458	SO:0001819	synonymous_variant	1107	exon5			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.639G>A	17.37:g.7796733G>A			7737458	NM_005852	D3DTQ9|E9PG89|Q9Y4I0	Silent	SNP	ENST00000330494.7	37	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	G	8.342	0.829010	0.16749	.	.	ENSG00000170004	ENST00000452447	.	.	.	4.82	-9.51	0.00581	.	.	.	.	.	T	0.41627	0.1167	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49978	-0.8881	4	.	.	.	-15.6382	5.3109	0.15829	0.3348:0.102:0.463:0.1003	.	.	.	.	S	88	.	.	G	+	1	0	CHD3	7737458	0.000000	0.05858	0.260000	0.24451	0.988000	0.76386	-5.896000	0.00092	-1.138000	0.02884	-0.474000	0.04947	GGC		0.632	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273	
CHD3	1107	broad.mit.edu	37	17	7797864	7797864	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:7797864C>A	ENST00000330494.7	+	8	1357	c.1207C>A	c.(1207-1209)Ctc>Atc	p.L403I	CHD3_ENST00000380358.4_Missense_Mutation_p.L462I|CHD3_ENST00000358181.4_Missense_Mutation_p.L403I	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	403					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.L403I(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TGCCTACCACCTCGTCTGCCT	0.567																																					p.L403I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1207A	17						.						169.0	124.0	139.0					17																	7797864		2203	4300	6503	7738589	SO:0001583	missense	1107	exon8			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.1207C>A	17.37:g.7797864C>A	ENSP00000332628:p.Leu403Ile		7738589	NM_005852	D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	CCDS32554.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.35|18.35	3.605548|3.605548	0.66445|0.66445	.|.	.|.	ENSG00000170004|ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494|ENST00000452447	D;D;D|.	0.95035|.	-3.59;-3.59;-3.59|.	4.81|4.81	4.81|4.81	0.61882|0.61882	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);|.	0.000000|.	0.40469|.	N|.	0.001091|.	T|T	0.58821|0.58821	0.2149|0.2149	L|L	0.35542|0.35542	1.07|1.07	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.996;0.997;0.999|.	D;D;D|.	0.80764|.	0.986;0.992;0.994|.	T|T	0.54636|0.54636	-0.8264|-0.8264	10|5	0.66056|.	D|.	0.02|.	-16.3096|-16.3096	18.0617|18.0617	0.89379|0.89379	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	403;403;462|.	Q12873-2;Q12873;E9PG89|.	.;CHD3_HUMAN;.|.	I|H	462;403;403|273	ENSP00000369716:L462I;ENSP00000350907:L403I;ENSP00000332628:L403I|.	ENSP00000332628:L403I|.	L|P	+|+	1|2	0|0	CHD3|CHD3	7738589|7738589	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.046000|3.046000	0.49846|0.49846	2.499000|2.499000	0.84300|0.84300	0.557000|0.557000	0.71058|0.71058	CTC|CCT		0.567	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273	
NPLOC4	55666	broad.mit.edu	37	17	79589240	79589240	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:79589240C>T	ENST00000331134.6	-	3	376	c.161G>A	c.(160-162)gGa>gAa	p.G54E	NPLOC4_ENST00000374747.5_Missense_Mutation_p.G54E|NPLOC4_ENST00000539314.1_5'UTR	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	54					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)	endoplasmic reticulum (GO:0005783)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.G54E(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TGTTATCTCTCCGGTCTTGTT	0.428																																					p.G54E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G161A	17						.						116.0	110.0	112.0					17																	79589240		1864	4102	5966	77199645	SO:0001583	missense	55666	exon3			AB040932	CCDS45812.1	17q25.3	2012-09-20			ENSG00000182446	ENSG00000182446			18261	protein-coding gene	gene with protein product		606590				11574150, 10811609	Standard	NM_017921		Approved	NPL4, FLJ20657, KIAA1499	uc002kas.3	Q8TAT6	OTTHUMG00000177990	ENST00000331134.6:c.161G>A	17.37:g.79589240C>T	ENSP00000331487:p.Gly54Glu		77199645	NM_017921	Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Missense_Mutation	SNP	ENST00000331134.6	37	CCDS45812.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.500987	0.44455	.	.	ENSG00000182446	ENST00000331134;ENST00000374747	.	.	.	5.21	5.21	0.72293	Nuclear pore localisation protein Npl4, ubiquitin-like domain (1);	0.000000	0.85682	D	0.000000	T	0.52517	0.1739	L	0.35723	1.085	0.80722	D	1	B;B	0.26041	0.068;0.14	B;B	0.27380	0.048;0.079	T	0.49273	-0.8957	9	0.08381	T	0.77	-12.3578	18.7158	0.91675	0.0:1.0:0.0:0.0	.	54;54	Q8TAT6-2;Q8TAT6	.;NPL4_HUMAN	E	54;53	.	ENSP00000331487:G54E	G	-	2	0	NPLOC4	77199645	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.722000	0.74735	2.584000	0.87258	0.591000	0.81541	GGA		0.428	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440140.1		
HEXDC	284004	broad.mit.edu	37	17	80395186	80395186	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:80395186G>A	ENST00000327949.9	+	7	857	c.846G>A	c.(844-846)gcG>gcA	p.A282A	HEXDC_ENST00000577944.1_Silent_p.A282A|HEXDC_ENST00000337014.6_Silent_p.A282A			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	282					carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)	p.A282A(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TGCAGGTGGCGGGCAGCGGGC	0.677																																					p.A282A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G846A	17						.						38.0	44.0	42.0					17																	80395186		2060	4196	6256	77988475	SO:0001819	synonymous_variant	284004	exon8			AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.846G>A	17.37:g.80395186G>A			77988475	NM_173620	B7UUP6|Q8IYN4|Q8TE81	Silent	SNP	ENST00000327949.9	37																																																																																					0.677	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000443513.1	NM_173620	
C17orf85	55421	broad.mit.edu	37	17	3716454	3716454	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:3716454delC	ENST00000389005.4	-	13	1774	c.1747delG	c.(1747-1749)gctfs	p.A583fs	C17orf85_ENST00000158149.3_Frame_Shift_Del_p.A303fs	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	583							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.A303fs*2(1)		endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		TTAATCAGAGCCCCCCATGCC	0.507																																					p.A583fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1747delG	17						.						139.0	139.0	139.0					17																	3716454		2203	4300	6503	3663203	SO:0001589	frameshift_variant	55421	exon13				CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"""ELG protein"""					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.1747delG	17.37:g.3716454delC	ENSP00000373657:p.Ala583fs		3663203	NM_001114118	B3KWG7|Q7L406|Q96FK1|Q9NXZ4	Frame_Shift_Del	DEL	ENST00000389005.4	37	CCDS45578.1																																																																																				0.507	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438385.1	NM_018553	
PER1	5187	broad.mit.edu	37	17	8053153	8053153	+	Missense_Mutation	SNP	C	C	T	rs138547494	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:8053153C>T	ENST00000317276.4	-	5	808	c.571G>A	c.(571-573)Gag>Aag	p.E191K	PER1_ENST00000581082.1_Missense_Mutation_p.E191K|PER1_ENST00000354903.5_Missense_Mutation_p.E175K	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	191					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)	p.E191K(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GAGCAAGGCTCGCCCTCCTCC	0.602			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																													p.E191K			Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G571A	17						.	C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	202.0	194.0	197.0		571	4.6	0.6	17	dbSNP_134	197	8,8592	6.4+/-24.3	0,8,4292	yes	missense	PER1	NM_002616.2	56	0,9,6494	TT,TC,CC		0.093,0.0227,0.0692	possibly-damaging	191/1291	8053153	9,12997	2203	4300	6503	7993878	SO:0001583	missense	5187	exon5			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.571G>A	17.37:g.8053153C>T	ENSP00000314420:p.Glu191Lys		7993878	NM_002616	B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.300489	0.60195	2.27E-4	9.3E-4	ENSG00000179094	ENST00000317276;ENST00000354903	T;T	0.35789	2.68;1.29	5.55	4.56	0.56223	.	0.162599	0.56097	D	0.000040	T	0.17280	0.0415	N	0.08118	0	0.38699	D	0.95294	P;P;D	0.54047	0.906;0.602;0.964	B;B;B	0.39660	0.162;0.083;0.306	T	0.04976	-1.0914	10	0.22109	T	0.4	-23.2337	11.6146	0.51080	0.0:0.6818:0.3182:0.0	.	191;175;191	Q6IN51;B4DI49;O15534	.;.;PER1_HUMAN	K	191;175	ENSP00000314420:E191K;ENSP00000346979:E175K	ENSP00000314420:E191K	E	-	1	0	PER1	7993878	1.000000	0.71417	0.645000	0.29479	0.827000	0.46813	5.447000	0.66606	2.620000	0.88729	0.563000	0.77884	GAG		0.602	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2		
NDEL1	81565	broad.mit.edu	37	17	8363358	8363358	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:8363358A>T	ENST00000334527.7	+	8	1021	c.824A>T	c.(823-825)aAt>aTt	p.N275I	NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000402554.3_Missense_Mutation_p.N275I|NDEL1_ENST00000380025.4_Intron|NDEL1_ENST00000299734.7_Missense_Mutation_p.N275I	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	275	Interaction with CENPF.|Interaction with DISC1.|Interaction with NEFL. {ECO:0000250}.|Required for localization to the centrosome and interaction with dynein, dynactin, tubulin gamma, PCM1 and PCNT.				activation of Cdc42 GTPase activity (GO:0032864)|central nervous system neuron axonogenesis (GO:0021955)|centrosome localization (GO:0051642)|cerebral cortex radially oriented cell migration (GO:0021799)|chromosome segregation (GO:0007059)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|neurofilament cytoskeleton organization (GO:0060052)|neuron migration (GO:0001764)|neuron projection extension (GO:1990138)|nuclear envelope disassembly (GO:0051081)|positive regulation of axon extension (GO:0045773)|positive regulation of axon regeneration (GO:0048680)|retrograde axon cargo transport (GO:0008090)|vesicle transport along microtubule (GO:0047496)	axon hillock (GO:0043203)|cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|neurofilament cytoskeleton (GO:0060053)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)	oligopeptidase activity (GO:0070012)	p.N275I(2)		large_intestine(6)|lung(4)|skin(3)	13						GCTTGCAGGAATTTTGCAAAG	0.393																																					p.N275I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A824T	17						.						128.0	123.0	124.0					17																	8363358		2203	4300	6503	8304083	SO:0001583	missense	81565	exon8			AF182078	CCDS11143.1, CCDS32564.1	17p13.1	2013-08-06	2013-08-06	2003-04-16	ENSG00000166579	ENSG00000166579			17620	protein-coding gene	gene with protein product		607538	"""nudE nuclear distribution gene E homolog (A. nidulans)-like 1"", ""nudE nuclear distribution E homolog (A. nidulans)-like 1"""			11163260, 11163259	Standard	NM_001025579		Approved	NUDEL, MITAP1, NDE1L1, NDE2	uc002glj.4	Q9GZM8	OTTHUMG00000108193	ENST00000334527.7:c.824A>T	17.37:g.8363358A>T	ENSP00000333982:p.Asn275Ile		8304083	NM_001025579	B3KP93|D3DTS0|J3QT32|Q86T80|Q8TAR7|Q9UH50	Missense_Mutation	SNP	ENST00000334527.7	37	CCDS11143.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.371716	0.82573	.	.	ENSG00000166579	ENST00000299734;ENST00000380025;ENST00000402554;ENST00000334527	.	.	.	5.0	5.0	0.66597	NUDE protein, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77870	0.4195	M	0.81497	2.545	0.80722	D	1	D;D	0.54601	0.967;0.961	P;P	0.62885	0.857;0.908	T	0.79429	-0.1807	9	0.45353	T	0.12	-5.231	15.151	0.72700	1.0:0.0:0.0:0.0	.	275;275	Q9GZM8;A6NIZ0	NDEL1_HUMAN;.	I	275;275;330;275	.	ENSP00000299734:N275I	N	+	2	0	NDEL1	8304083	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.286000	0.72665	2.227000	0.72691	0.402000	0.26972	AAT		0.393	NDEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226999.2	NM_030808	
GLP2R	9340	broad.mit.edu	37	17	9792969	9792969	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:9792969G>T	ENST00000262441.5	+	13	2122	c.1609G>T	c.(1609-1611)Gat>Tat	p.D537Y	GLP2R_ENST00000574745.1_Missense_Mutation_p.D357Y	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	537					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)	p.D537Y(1)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	CAGTGAGGGGGATGTCACCAT	0.632																																					p.D537Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1609T	17						.																																			9733694	SO:0001583	missense	9340	exon13			AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"""GPCR / Class B : Glucagon receptors"""	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.1609G>T	17.37:g.9792969G>T	ENSP00000262441:p.Asp537Tyr		9733694	NM_004246	Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	37	CCDS11150.1	.	.	.	.	.	.	.	.	.	.	G	9.962	1.223096	0.22457	.	.	ENSG00000065325	ENST00000396206;ENST00000262441	T	0.59638	0.25	5.73	4.75	0.60458	.	0.175701	0.27526	N	0.018964	T	0.50616	0.1626	L	0.44542	1.39	0.38136	D	0.938312	B	0.15473	0.013	B	0.10450	0.005	T	0.53085	-0.8488	10	0.56958	D	0.05	.	13.3831	0.60780	0.0:0.0:0.8422:0.1578	.	537	O95838	GLP2R_HUMAN	Y	537	ENSP00000262441:D537Y	ENSP00000262441:D537Y	D	+	1	0	GLP2R	9733694	0.999000	0.42202	0.872000	0.34217	0.558000	0.35554	3.317000	0.51968	1.413000	0.46997	0.655000	0.94253	GAT		0.632	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4		
SHMT1	6470	broad.mit.edu	37	17	18250889	18250889	+	Frame_Shift_Del	DEL	C	C	-	rs563467894	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:18250889delC	ENST00000316694.3	-	5	574	c.440delG	c.(439-441)ggcfs	p.G147fs	SHMT1_ENST00000354098.3_Frame_Shift_Del_p.G147fs|SHMT1_ENST00000539052.1_Frame_Shift_Del_p.G9fs|SHMT1_ENST00000352886.6_Frame_Shift_Del_p.G147fs	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	147					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|folic acid metabolic process (GO:0046655)|glycine biosynthetic process from serine (GO:0019264)|L-serine catabolic process (GO:0006565)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase biosynthetic process (GO:0009113)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	amino acid binding (GO:0016597)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.G147fs*3(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Tetrahydrofolic acid(DB00116)	GGTCAGGTGGCCCCCATCCGG	0.537																																					p.G147fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.440delG	17						.						112.0	112.0	112.0					17																	18250889		2203	4300	6503	18191614	SO:0001589	frameshift_variant	6470	exon5				CCDS11196.1, CCDS11197.1, CCDS62112.1	17p11.2	2010-04-23			ENSG00000176974	ENSG00000176974	2.1.2.1		10850	protein-coding gene	gene with protein product	"""cytoplasmic serine hydroxymethyltransferase"", ""14 kDa protein"""	182144				8505317	Standard	NM_004169		Approved	CSHMT, SHMT, MGC15229, MGC24556	uc002gta.3	P34896	OTTHUMG00000059094	ENST00000316694.3:c.440delG	17.37:g.18250889delC	ENSP00000318868:p.Gly147fs		18191614	NM_004169	B4DPM9|D3DXD0|Q96HY0|Q9UMD1|Q9UMD2	Frame_Shift_Del	DEL	ENST00000316694.3	37	CCDS11196.1																																																																																				0.537	SHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130831.2	NM_004169	
NOS2	4843	broad.mit.edu	37	17	26094771	26094771	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:26094771delG	ENST00000313735.6	-	18	2360	c.2127delC	c.(2125-2127)tacfs	p.Y709fs		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	709					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)	p.Y709fs*1(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	GCACGAGCCTGTAGTGGTGCG	0.562																																					p.Y709X												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2127delC	17						.						72.0	57.0	62.0					17																	26094771		2203	4300	6503	23118898	SO:0001589	frameshift_variant	4843	exon18			U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.2127delC	17.37:g.26094771delG	ENSP00000327251:p.Tyr709fs		23118898	NM_000625	A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Frame_Shift_Del	DEL	ENST00000313735.6	37	CCDS11223.1																																																																																				0.562	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625	
SPAG9	9043	broad.mit.edu	37	17	49077041	49077041	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:49077041delT	ENST00000262013.7	-	14	1853	c.1645delA	c.(1645-1647)aggfs	p.R549fs	SPAG9_ENST00000510283.1_Frame_Shift_Del_p.R392fs|SPAG9_ENST00000505279.1_Frame_Shift_Del_p.R535fs|SPAG9_ENST00000357122.4_Frame_Shift_Del_p.R535fs	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	549					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)		p.R535fs*28(1)		NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			ATGCTTGACCTTTTTTTTTCC	0.323																																					p.R535fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1603delA	17						.						158.0	136.0	144.0					17																	49077041		2203	4300	6503	46432040	SO:0001589	frameshift_variant	9043	exon13			AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.1645delA	17.37:g.49077041delT	ENSP00000262013:p.Arg549fs		46432040	NM_003971	A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Frame_Shift_Del	DEL	ENST00000262013.7	37	CCDS45740.1																																																																																				0.323	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971	
TOM1L1	10040	broad.mit.edu	37	17	53014593	53014593	+	Intron	SNP	T	T	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:53014593T>A	ENST00000575882.1	+	10	1386				TOM1L1_ENST00000575333.1_Nonstop_Mutation_p.*347K|TOM1L1_ENST00000570371.1_Nonstop_Mutation_p.*347K|TOM1L1_ENST00000540336.1_Intron|TOM1L1_ENST00000348161.4_Intron|TOM1L1_ENST00000572158.1_Intron|TOM1L1_ENST00000536554.1_Intron|TOM1L1_ENST00000445275.2_Intron	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1						activation of protein kinase activity (GO:0032147)|intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|positive regulation of protein autophosphorylation (GO:0031954)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	clathrin binding (GO:0030276)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|ubiquitin binding (GO:0043130)	p.?(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						CTTAAGTAAATAAACACTCAG	0.433																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	17						.						98.0	98.0	98.0					17																	53014593		2203	4300	6503	50369592	SO:0001627	intron_variant	10040	.			AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198			11983	protein-coding gene	gene with protein product		604701	"""target of myb1 (chicken) homolog-like 1"""			10329004, 15611048, 17977829	Standard	NM_005486		Approved	SRCASM	uc002iud.2	O75674		ENST00000575882.1:c.1033+6T>A	17.37:g.53014593T>A			50369592	.	Q53G06|Q8N749	Nonstop_Mutation	SNP	ENST00000575882.1	37	CCDS11582.1																																																																																				0.433	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439029.2	NM_005486	
RNF43	54894	broad.mit.edu	37	17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:56435161delC	ENST00000584437.1	-	8	3931	c.1976delG	c.(1975-1977)ggtfs	p.G659fs	RNF43_ENST00000583753.1_Frame_Shift_Del_p.G618fs|RNF43_ENST00000500597.2_Frame_Shift_Del_p.G618fs|RNF43_ENST00000577625.1_Frame_Shift_Del_p.G532fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Frame_Shift_Del_p.G659fs|RNF43_ENST00000581868.1_Frame_Shift_Del_p.G532fs|RNF43_ENST00000407977.2_Frame_Shift_Del_p.G659fs			Q68DV7	RNF43_HUMAN	ring finger protein 43	659	Pro-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTCGGAGGGACCCCCCCGCCT	0.602																																					p.G659fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1976delG	17						.						64.0	77.0	72.0					17																	56435161		2203	4299	6502	53790160	SO:0001589	frameshift_variant	54894	exon9				CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1976delG	17.37:g.56435161delC	ENSP00000463069:p.Gly659fs		53790160	NM_017763	A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Frame_Shift_Del	DEL	ENST00000584437.1	37	CCDS11607.1																																																																																				0.602	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763	
ACE	1636	broad.mit.edu	37	17	61560426	61560426	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:61560426delA	ENST00000290866.4	+	9	1403	c.1379delA	c.(1378-1380)gaafs	p.E460fs	ACE_ENST00000490216.2_5'Flank|ACE_ENST00000538928.1_Intron|ACE_ENST00000577647.1_5'Flank|ACE_ENST00000421982.2_5'Flank|ACE_ENST00000413513.3_5'Flank|ACE_ENST00000428043.1_Frame_Shift_Del_p.E460fs|ACE_ENST00000290863.6_5'Flank|ACE_ENST00000584529.1_Intron	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	460	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)	p.I462fs*63(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	ATGGCACTGGAAAAAATTGCC	0.527																																					p.E460fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1379delA	17						.						139.0	145.0	143.0					17																	61560426		2203	4300	6503	58914158	SO:0001589	frameshift_variant	1636	exon9			J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.1379delA	17.37:g.61560426delA	ENSP00000290866:p.Glu460fs		58914158	NM_000789	B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Frame_Shift_Del	DEL	ENST00000290866.4	37	CCDS11637.1																																																																																				0.527	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2		
B3GNTL1	146712	broad.mit.edu	37	17	80992968	80992968	+	Silent	SNP	G	G	A	rs375382704		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr17:80992968G>A	ENST00000320865.3	-	4	298	c.285C>T	c.(283-285)taC>taT	p.Y95Y	B3GNTL1_ENST00000576599.1_De_novo_Start_InFrame|B3GNTL1_ENST00000571954.1_5'UTR	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	95							transferase activity, transferring glycosyl groups (GO:0016757)	p.Y95Y(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			GATTTTTAGCGTATCCGACTG	0.333																																					p.Y95Y												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.C285T	17						.	G		0,4406		0,0,2203	87.0	89.0	88.0		285	1.6	1.0	17		88	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	B3GNTL1	NM_001009905.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		95/362	80992968	1,13005	2203	4300	6503	78586257	SO:0001819	synonymous_variant	146712	exon4			AY634364	CCDS32778.1	17q25.3	2013-02-22	2004-01-13	2004-01-14	ENSG00000175711	ENSG00000175711		"""Glycosyltransferase family 2 domain containing"""	21727	protein-coding gene	gene with protein product		615337					Standard	NM_001009905		Approved	B3GNT8	uc002kgg.1	Q67FW5	OTTHUMG00000177788	ENST00000320865.3:c.285C>T	17.37:g.80992968G>A			78586257	NM_001009905	Q6GV30|Q8WUT3	De_novo_Start_InFrame	SNP	ENST00000320865.3	37	CCDS32778.1																																																																																				0.333	B3GNTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438949.1	NM_001009905	
MC2R	4158	broad.mit.edu	37	18	13885485	13885485	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr18:13885485G>A	ENST00000327606.3	-	2	213	c.33C>T	c.(31-33)atC>atT	p.I11I		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	11					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)	p.I11I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	CTGTGTTGTTGATGTTTTCAT	0.408																																					p.I11I	Colon(141;1584 1782 35999 48227 48692)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C33T	18						.						257.0	209.0	225.0					18																	13885485		2203	4300	6503	13875485	SO:0001819	synonymous_variant	4158	exon2				CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.33C>T	18.37:g.13885485G>A			13875485	NM_000529	A8K016|Q3MI45|Q504X6	Silent	SNP	ENST00000327606.3	37	CCDS11869.1																																																																																				0.408	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2		
SMCHD1	23347	broad.mit.edu	37	18	2743861	2743861	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr18:2743861C>T	ENST00000320876.6	+	29	4074	c.3736C>T	c.(3736-3738)Cga>Tga	p.R1246*	SMCHD1_ENST00000261598.8_Nonsense_Mutation_p.R1246*|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1246					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)	p.R1246*(2)|p.R694*(1)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TGACTTTATTCGAGTGCAACT	0.383																																					p.R1246X												.	.	3	Substitution - Nonsense(3)	large_intestine(3)	c.C3736T	18						.						109.0	97.0	101.0					18																	2743861		1836	4088	5924	2733861	SO:0001587	stop_gained	23347	exon29			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.3736C>T	18.37:g.2743861C>T	ENSP00000326603:p.Arg1246*		2733861	NM_015295	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Nonsense_Mutation	SNP	ENST00000320876.6	37	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	C	43	10.404479	0.99399	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	.	.	.	5.26	4.38	0.52667	.	0.334051	0.28544	N	0.014966	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.7036	12.4654	0.55755	0.4279:0.5721:0.0:0.0	.	.	.	.	X	1246	.	ENSP00000261598:R1246X	R	+	1	2	SMCHD1	2733861	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.057000	0.41365	1.164000	0.42652	0.585000	0.79938	CGA		0.383	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2		
SMCHD1	23347	broad.mit.edu	37	18	2751361	2751361	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr18:2751361G>A	ENST00000320876.6	+	33	4589	c.4251G>A	c.(4249-4251)ctG>ctA	p.L1417L	SMCHD1_ENST00000261598.8_Silent_p.L1417L|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1417					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)	p.L1417L(2)|p.L865L(1)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TGTGGAAGCTGTCTACCAGTG	0.348																																					p.L1417L												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.G4251A	18						.						77.0	70.0	72.0					18																	2751361		1825	4082	5907	2741361	SO:0001819	synonymous_variant	23347	exon33			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.4251G>A	18.37:g.2751361G>A			2741361	NM_015295	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Silent	SNP	ENST00000320876.6	37	CCDS45822.1																																																																																				0.348	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2		
DSG3	1830	broad.mit.edu	37	18	29037035	29037035	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr18:29037035C>T	ENST00000257189.4	+	3	247	c.164C>T	c.(163-165)gCc>gTc	p.A55V		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	55	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A55V(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GTGAAATTTGCCAAACCCTGC	0.353																																					p.A55V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C164T	18						.						129.0	124.0	126.0					18																	29037035		2203	4300	6503	27291033	SO:0001583	missense	1830	exon3			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.164C>T	18.37:g.29037035C>T	ENSP00000257189:p.Ala55Val		27291033	NM_001944	A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344477	0.82022	.	.	ENSG00000134757	ENST00000257189	T	0.60171	0.21	5.19	5.19	0.71726	.	0.000000	0.44902	D	0.000404	T	0.57681	0.2070	L	0.38838	1.175	0.36004	D	0.837565	D	0.56035	0.974	P	0.52031	0.688	T	0.68213	-0.5468	10	0.72032	D	0.01	.	12.4502	0.55673	0.0:0.9228:0.0:0.0772	.	55	P32926	DSG3_HUMAN	V	55	ENSP00000257189:A55V	ENSP00000257189:A55V	A	+	2	0	DSG3	27291033	0.995000	0.38212	0.991000	0.47740	0.974000	0.67602	3.497000	0.53295	2.568000	0.86640	0.650000	0.86243	GCC		0.353	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944	
TRAPPC8	22878	broad.mit.edu	37	18	29454571	29454571	+	Missense_Mutation	SNP	G	G	A	rs577803701		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr18:29454571G>A	ENST00000283351.4	-	13	2160	c.1825C>T	c.(1825-1827)Cgc>Tgc	p.R609C	TRAPPC8_ENST00000582513.1_Missense_Mutation_p.R609C|TRAPPC8_ENST00000582539.1_Missense_Mutation_p.R555C	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	609					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.R609C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TAGGACTGGCGCCCAATAGTG	0.408																																					p.R609C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1825T	18						.						98.0	90.0	93.0					18																	29454571		2203	4300	6503	27708569	SO:0001583	missense	22878	exon13			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.1825C>T	18.37:g.29454571G>A	ENSP00000283351:p.Arg609Cys		27708569	NM_014939	A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.063589	0.55432	.	.	ENSG00000153339	ENST00000283351	T	0.76709	-1.04	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.89199	0.6647	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77557	0.915;0.99	D	0.89649	0.3868	10	0.72032	D	0.01	.	19.9069	0.97012	0.0:0.0:1.0:0.0	.	609;609	Q6PCC9;Q9Y2L5	.;TPPC8_HUMAN	C	609	ENSP00000283351:R609C	ENSP00000283351:R609C	R	-	1	0	TRAPPC8	27708569	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.377000	0.97184	2.718000	0.92993	0.585000	0.79938	CGC		0.408	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939	
DTNA	1837	broad.mit.edu	37	18	32400801	32400801	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr18:32400801G>T	ENST00000399113.3	+	8	923	c.923G>T	c.(922-924)aGc>aTc	p.S308I	DTNA_ENST00000399121.5_Missense_Mutation_p.S308I|DTNA_ENST00000598774.1_Missense_Mutation_p.S308I|AC068506.1_ENST00000408482.1_RNA|DTNA_ENST00000597599.1_Missense_Mutation_p.S308I|DTNA_ENST00000598334.1_Missense_Mutation_p.S308I|DTNA_ENST00000269191.6_Missense_Mutation_p.S308I|DTNA_ENST00000599844.1_5'UTR|DTNA_ENST00000269192.7_5'UTR|DTNA_ENST00000269190.7_Missense_Mutation_p.S308I|DTNA_ENST00000348997.5_Missense_Mutation_p.S308I|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000554864.3_Missense_Mutation_p.S308I|DTNA_ENST00000315456.6_Missense_Mutation_p.S308I|DTNA_ENST00000444659.1_Missense_Mutation_p.S308I|DTNA_ENST00000597674.1_5'UTR|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000601125.1_5'UTR|DTNA_ENST00000595022.1_Missense_Mutation_p.S308I|DTNA_ENST00000283365.9_Missense_Mutation_p.S308I|DTNA_ENST00000591182.1_5'UTR|DTNA_ENST00000556414.3_5'UTR|DTNA_ENST00000598142.1_Missense_Mutation_p.S308I			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	308					neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.S308I(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						AAGTCCCTGAGCTGTGCTTCC	0.468																																					p.S308I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G923T	18						.						97.0	84.0	88.0					18																	32400801		2203	4300	6503	30654799	SO:0001583	missense	1837	exon10			U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.923G>T	18.37:g.32400801G>T	ENSP00000382064:p.Ser308Ile		30654799	NM_001198938	A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002555	0.93227	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000315456;ENST00000556176;ENST00000399114;ENST00000269190;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113	T;T;T;T;T;T;T;T	0.18960	2.21;2.2;2.18;2.19;2.2;2.18;2.19;2.18	5.66	5.66	0.87406	.	0.039077	0.85682	D	0.000000	T	0.47377	0.1442	M	0.62723	1.935	0.80722	D	1	D;D;D;B;D;D;P;D;P;D;D;P	0.76494	0.998;0.998;0.999;0.157;0.979;0.999;0.515;0.964;0.904;0.979;0.965;0.942	D;D;D;B;P;D;B;P;P;P;P;P	0.87578	0.967;0.99;0.998;0.096;0.786;0.994;0.096;0.737;0.616;0.708;0.566;0.786	T	0.28202	-1.0051	10	0.56958	D	0.05	-18.2773	20.1047	0.97888	0.0:0.0:1.0:0.0	.	58;308;308;308;308;308;308;319;308;308;308;308	B7Z3X3;Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-4;E9PEH8;Q59GK7;Q9BS59;Q9Y4J8-2;Q9Y4J8-5;Q9Y4J8-7	.;DTNA_HUMAN;.;.;.;.;.;.;.;.;.;.	I	308	ENSP00000283365:S308I;ENSP00000322519:S308I;ENSP00000269190:S308I;ENSP00000336682:S308I;ENSP00000382072:S308I;ENSP00000405819:S308I;ENSP00000269191:S308I;ENSP00000382064:S308I	ENSP00000269190:S308I	S	+	2	0	DTNA	30654799	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.809000	0.99208	2.819000	0.97034	0.585000	0.79938	AGC		0.468	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390	
ELP2	55250	broad.mit.edu	37	18	33744543	33744543	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr18:33744543T>C	ENST00000358232.6	+	18	1930	c.1867T>C	c.(1867-1869)Tca>Cca	p.S623P	ELP2_ENST00000350494.6_Missense_Mutation_p.S618P|ELP2_ENST00000542824.1_Missense_Mutation_p.S553P|ELP2_ENST00000351393.6_Missense_Mutation_p.S597P|ELP2_ENST00000542050.1_3'UTR|ELP2_ENST00000442325.2_Missense_Mutation_p.S688P|ELP2_ENST00000423854.2_Missense_Mutation_p.S553P	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	623					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)		p.S623P(1)		NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						GATGGCCTTCTCACCTAATGA	0.423																																					p.S623P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1867C	18						.						105.0	98.0	100.0					18																	33744543		2203	4300	6503	31998541	SO:0001583	missense	55250	exon18			AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"""Elongator acetyltransferase complex subunits"", ""WD repeat domain containing"""	18248	protein-coding gene	gene with protein product			"""signal transducer and activator of transcription 3 interacting protein 1"", ""elongation protein 2 homolog (S. cerevisiae)"""	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.1867T>C	18.37:g.33744543T>C	ENSP00000350967:p.Ser623Pro		31998541	NM_018255	A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Missense_Mutation	SNP	ENST00000358232.6	37	CCDS11918.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.795707	0.90453	.	.	ENSG00000134759	ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824	T;T;T;T;T;T	0.71698	-0.21;-0.21;0.39;-0.21;-0.59;-0.21	5.79	5.79	0.91817	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.89860	0.6837	H	0.97874	4.095	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.999;0.997;0.997;0.998;0.998	D	0.93218	0.6606	10	0.87932	D	0	-13.7187	14.0849	0.64949	0.0:0.0:0.0:1.0	.	618;688;553;553;597;623	B4DTG0;E7EP23;E9PCX0;Q6IA86-2;Q6IA86-3;Q6IA86	.;.;.;.;.;ELP2_HUMAN	P	623;597;688;553;618;553	ENSP00000350967:S623P;ENSP00000257191:S597P;ENSP00000414851:S688P;ENSP00000391202:S553P;ENSP00000316051:S618P;ENSP00000443800:S553P	ENSP00000316051:S618P	S	+	1	0	ELP2	31998541	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.948000	0.87774	2.208000	0.71279	0.533000	0.62120	TCA		0.423	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255800.2	NM_018255	
DLGAP1	9229	broad.mit.edu	37	18	3502621	3502621	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr18:3502621G>T	ENST00000315677.3	-	12	3189	c.2594C>A	c.(2593-2595)cCc>cAc	p.P865H	DLGAP1_ENST00000400150.3_Missense_Mutation_p.P581H|DLGAP1_ENST00000584874.1_Missense_Mutation_p.P865H|DLGAP1_ENST00000400147.2_Missense_Mutation_p.P563H|DLGAP1_ENST00000581699.1_Missense_Mutation_p.P571H|DLGAP1_ENST00000534970.1_Missense_Mutation_p.P549H|DLGAP1_ENST00000539435.1_Missense_Mutation_p.P573H|DLGAP1_ENST00000400145.2_Missense_Mutation_p.P563H|DLGAP1_ENST00000400155.1_Missense_Mutation_p.P571H|DLGAP1_ENST00000400149.3_Missense_Mutation_p.P555H|DLGAP1_ENST00000515196.2_Missense_Mutation_p.P865H|DLGAP1_ENST00000581527.1_Missense_Mutation_p.P865H	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	865					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)		p.P865H(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CTGGGAGGTGGGTCTTGGATG	0.393																																					p.P563H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1688A	18						.						75.0	82.0	80.0					18																	3502621		2203	4300	6503	3492621	SO:0001583	missense	9229	exon9			AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.2594C>A	18.37:g.3502621G>T	ENSP00000316377:p.Pro865His		3492621	NM_001003809	A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.351207	0.82132	.	.	ENSG00000170579	ENST00000315677;ENST00000400147;ENST00000400150;ENST00000400149;ENST00000400155;ENST00000534970;ENST00000539435;ENST00000400145;ENST00000515196	T;T;T;T;T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.58807	0.2148	M	0.86178	2.8	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	0.97110	1.0;1.0;0.999;0.999;0.999;0.999;0.998;0.997	T	0.63844	-0.6545	10	0.87932	D	0	-26.342	19.7999	0.96502	0.0:0.0:1.0:0.0	.	865;549;561;571;573;563;865;563	B7Z9Y4;B7Z2H2;B7Z2J5;A8MWN8;B7Z2I2;O14490-3;O14490;O14490-2	.;.;.;.;.;.;DLGP1_HUMAN;.	H	865;563;581;555;571;549;573;563;865	ENSP00000316377:P865H;ENSP00000383011:P563H;ENSP00000383014:P581H;ENSP00000383013:P555H;ENSP00000383019:P571H;ENSP00000437817:P549H;ENSP00000446312:P573H;ENSP00000383010:P563H;ENSP00000445973:P865H	ENSP00000316377:P865H	P	-	2	0	DLGAP1	3492621	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.753000	0.94483	0.557000	0.71058	CCC		0.393	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4		
FHOD3	80206	broad.mit.edu	37	18	34297976	34297976	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr18:34297976T>C	ENST00000359247.4	+	15	2139	c.2139T>C	c.(2137-2139)ctT>ctC	p.L713L	FHOD3_ENST00000445677.1_Silent_p.L692L|FHOD3_ENST00000592128.1_5'Flank|FHOD3_ENST00000590592.1_Silent_p.L905L|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000257209.4_Silent_p.L730L	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	713					actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)		p.L730L(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				TAGCCAGCCTTGCTACCAGGA	0.587																																					p.L730L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2190C	18						.						58.0	57.0	57.0					18																	34297976		2203	4300	6503	32551974	SO:0001819	synonymous_variant	80206	exon16			AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.2139T>C	18.37:g.34297976T>C			32551974	NM_025135	A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Silent	SNP	ENST00000359247.4	37																																																																																					0.587	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114	
SETBP1	26040	broad.mit.edu	37	18	42532041	42532041	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr18:42532041G>T	ENST00000282030.5	+	4	3032	c.2736G>T	c.(2734-2736)aaG>aaT	p.K912N		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	912						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K912N(1)|p.K858N(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCAGCACAAAGAACCGGCATG	0.542									Schinzel-Giedion syndrome																												p.K912N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2736T	18						.						39.0	36.0	37.0					18																	42532041		2203	4300	6503	40786039	SO:0001583	missense	26040	exon4	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.2736G>T	18.37:g.42532041G>T	ENSP00000282030:p.Lys912Asn		40786039	NM_015559	A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	15.32	2.797482	0.50208	.	.	ENSG00000152217	ENST00000282030	D	0.92965	-3.14	6.17	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.91758	0.7393	N	0.24115	0.695	0.36241	D	0.85329	D	0.67145	0.996	P	0.62184	0.899	D	0.94534	0.7739	10	0.87932	D	0	.	13.2087	0.59813	0.1307:0.0:0.8693:0.0	.	912	Q9Y6X0	SETBP_HUMAN	N	912	ENSP00000282030:K912N	ENSP00000282030:K912N	K	+	3	2	SETBP1	40786039	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	1.326000	0.33735	1.630000	0.50440	0.655000	0.94253	AAG		0.542	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110	
HAUS1	115106	broad.mit.edu	37	18	43704853	43704853	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr18:43704853A>T	ENST00000282058.6	+	7	812	c.732A>T	c.(730-732)ttA>ttT	p.L244F	HAUS1_ENST00000588704.1_3'UTR|HAUS1_ENST00000585518.1_Missense_Mutation_p.N113Y	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1	244					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.L244F(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						ATTTAGACTTAATGCCGGTAA	0.373																																					p.L244F	NSCLC(79;183 1423 5813 15597 38427)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A732T	18						.						96.0	102.0	100.0					18																	43704853		2203	4300	6503	41958851	SO:0001583	missense	115106	exon7			AY360137	CCDS11928.1	18q21.1	2013-10-11	2009-04-20	2009-04-20	ENSG00000152240	ENSG00000152240		"""HAUS augmin-like complex subunits"""	25174	protein-coding gene	gene with protein product		608775	"""coiled-coil domain containing 5 (spindle associated)"""	CCDC5		19427217	Standard	NR_026978		Approved	HEI-C, HsT1461, FLJ40084	uc002lbu.3	Q96CS2	OTTHUMG00000132638	ENST00000282058.6:c.732A>T	18.37:g.43704853A>T	ENSP00000282058:p.Leu244Phe		41958851	NM_138443	B2RDM7|Q8N837	Missense_Mutation	SNP	ENST00000282058.6	37	CCDS11928.1	.	.	.	.	.	.	.	.	.	.	A	17.96	3.516931	0.64634	.	.	ENSG00000152240	ENST00000282058	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.76350	0.3975	M	0.79475	2.455	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.78843	-0.2044	9	0.87932	D	0	-21.6037	7.9848	0.30205	0.9078:0.0:0.0922:0.0	.	244	Q96CS2	HAUS1_HUMAN	F	244	.	ENSP00000282058:L244F	L	+	3	2	HAUS1	41958851	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	1.561000	0.36342	2.054000	0.61138	0.528000	0.53228	TTA		0.373	HAUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255885.1	NM_138443	
HDHD2	84064	broad.mit.edu	37	18	44639369	44639369	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr18:44639369G>A	ENST00000300605.6	-	6	807	c.655C>T	c.(655-657)Ctg>Ttg	p.L219L	HDHD2_ENST00000587841.1_5'UTR	NM_032124.4	NP_115500.1	Q9H0R4	HDHD2_HUMAN	haloacid dehalogenase-like hydrolase domain containing 2	219						extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)	p.L219L(1)		kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						AAGATGCCCAGCATGCCGACA	0.388																																					p.L219L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C655T	18						.						136.0	118.0	124.0					18																	44639369		2203	4300	6503	42893367	SO:0001819	synonymous_variant	84064	exon6			AL136681	CCDS32829.1	18q21.1	2008-02-05				ENSG00000167220			25364	protein-coding gene	gene with protein product						11230166	Standard	NM_032124		Approved	DKFZP564D1378	uc002lcs.3	Q9H0R4		ENST00000300605.6:c.655C>T	18.37:g.44639369G>A			42893367	NM_032124	A8K7T3|Q96NV4	Silent	SNP	ENST00000300605.6	37	CCDS32829.1																																																																																				0.388	HDHD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450668.2	NM_032124	
MRO	83876	broad.mit.edu	37	18	48333092	48333092	+	Silent	SNP	G	G	T	rs569083454		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr18:48333092G>T	ENST00000428869.2	-	5	486	c.228C>A	c.(226-228)gcC>gcA	p.A76A	MRO_ENST00000256425.2_Silent_p.A76A|MRO_ENST00000436348.2_Silent_p.A90A|MRO_ENST00000398439.3_Silent_p.A76A|MRO_ENST00000587291.1_Intron|MRO_ENST00000431965.2_Silent_p.A90A|MRO_ENST00000588444.1_Silent_p.A76A			Q9BYG7	MSTRO_HUMAN	maestro	76						nucleolus (GO:0005730)		p.A76A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		GGGCTTCATAGGCCATGGTTC	0.552													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17354	0.0		0.0	False		,,,				2504	0.0				p.A76A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C228A	18						.						118.0	121.0	120.0					18																	48333092		2203	4300	6503	46587090	SO:0001819	synonymous_variant	83876	exon4			AK054702	CCDS11947.1, CCDS45867.1, CCDS45868.1, CCDS45869.1	18q21	2012-12-19	2004-06-15		ENSG00000134042	ENSG00000134042		"""maestro heat-like repeat containing"""	24121	protein-coding gene	gene with protein product	"""B29 protein"", ""beside the Ma29 deletion"""	608080	"""chromosome 18 open reading frame 3"""	C18orf3		11401430	Standard	NM_031939		Approved	B29, FLJ30140	uc010dpa.3	Q9BYG7	OTTHUMG00000132692	ENST00000428869.2:c.228C>A	18.37:g.48333092G>T			46587090	NM_031939	B7Z2I5|B7Z3B2|E9PAT5|E9PBI3|K7EKJ8|Q8N6K5	Silent	SNP	ENST00000428869.2	37	CCDS11947.1																																																																																				0.552	MRO-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449478.2	NM_031939	
DCC	1630	broad.mit.edu	37	18	50589768	50589768	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr18:50589768C>A	ENST00000442544.2	+	6	1695	c.1079C>A	c.(1078-1080)cCc>cAc	p.P360H	DCC_ENST00000412726.1_Missense_Mutation_p.P208H|DCC_ENST00000581580.1_Missense_Mutation_p.P15H|DCC_ENST00000580146.1_3'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	360	Ig-like C2-type 4.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.P360H(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AAGCCTGTGCCCACTGTGAAT	0.368																																					p.P360H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1079A	18						.						267.0	245.0	252.0					18																	50589768		2203	4300	6503	48843766	SO:0001583	missense	1630	exon6			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1079C>A	18.37:g.50589768C>A	ENSP00000389140:p.Pro360His		48843766	NM_005215		Missense_Mutation	SNP	ENST00000442544.2	37	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.006980	0.54361	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.73681	-0.77;-0.77	5.95	5.95	0.96441	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.91778	0.7399	H	0.97732	4.065	0.53005	D	0.999966	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93941	0.7223	10	0.87932	D	0	.	19.1527	0.93495	0.0:1.0:0.0:0.0	.	208;208;360	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	H	360;293;208	ENSP00000389140:P360H;ENSP00000397322:P208H	ENSP00000304146:P293H	P	+	2	0	DCC	48843766	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.172000	0.77604	2.821000	0.97095	0.650000	0.86243	CCC		0.368	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215	
EPB41L3	23136	broad.mit.edu	37	18	5406869	5406869	+	Silent	SNP	C	C	T	rs375906975		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr18:5406869C>T	ENST00000341928.2	-	16	2596	c.2256G>A	c.(2254-2256)acG>acA	p.T752T	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000400111.3_Silent_p.T571T|EPB41L3_ENST00000342933.3_Silent_p.T752T|EPB41L3_ENST00000544123.1_Silent_p.T583T|EPB41L3_ENST00000540638.2_Silent_p.T571T|EPB41L3_ENST00000542146.1_Silent_p.T24T|EPB41L3_ENST00000427684.2_Silent_p.T24T	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	752	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.T752T(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CCCATTCATTCGTTACGGCAG	0.502																																					p.T752T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2256A	18						.						197.0	158.0	171.0					18																	5406869		2203	4300	6503	5396869	SO:0001819	synonymous_variant	23136	exon16			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2256G>A	18.37:g.5406869C>T			5396869	NM_012307	B7Z4I5|F5GX05|O95713|Q9BRP5	Silent	SNP	ENST00000341928.2	37	CCDS11838.1																																																																																				0.502	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307	
WDR7	23335	broad.mit.edu	37	18	54694331	54694331	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr18:54694331T>C	ENST00000254442.3	+	28	4577	c.4366T>C	c.(4366-4368)Tcc>Ccc	p.S1456P	WDR7-UT1_ENST00000592032.1_RNA|WDR7_ENST00000357574.3_Missense_Mutation_p.S1423P|WDR7_ENST00000589935.1_Missense_Mutation_p.S33P	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1456					hematopoietic progenitor cell differentiation (GO:0002244)			p.S1456P(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GCAGCCCGCGTCCCCCGGCTC	0.617																																					p.S1456P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4366C	18						.						48.0	47.0	48.0					18																	54694331		2203	4300	6503	52845329	SO:0001583	missense	23335	exon28			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.4366T>C	18.37:g.54694331T>C	ENSP00000254442:p.Ser1456Pro		52845329	NM_015285	A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.595269	0.86953	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	T;T	0.62639	0.01;0.01	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.71643	0.3364	L	0.38175	1.15	0.80722	D	1	D;D	0.69078	0.997;0.995	D;D	0.78314	0.991;0.979	T	0.74565	-0.3623	10	0.72032	D	0.01	.	15.6165	0.76773	0.0:0.0:0.0:1.0	.	1423;1456	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	P	1456;1423;781;1423	ENSP00000254442:S1456P;ENSP00000350187:S1423P	ENSP00000254442:S1456P	S	+	1	0	WDR7	52845329	1.000000	0.71417	0.299000	0.25016	0.673000	0.39480	7.943000	0.87716	2.181000	0.69327	0.459000	0.35465	TCC		0.617	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1		
EPB41L3	23136	broad.mit.edu	37	18	5445192	5445192	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr18:5445192A>C	ENST00000341928.2	-	4	773	c.433T>G	c.(433-435)Ttg>Gtg	p.L145V	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000400111.3_Missense_Mutation_p.L145V|EPB41L3_ENST00000342933.3_Missense_Mutation_p.L145V|EPB41L3_ENST00000544123.1_Missense_Mutation_p.L145V|EPB41L3_ENST00000540638.2_Missense_Mutation_p.L145V	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	145	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.L145V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TTCTCTAGCAAGTTCAAGTGT	0.393																																					p.L145V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T433G	18						.						197.0	155.0	169.0					18																	5445192		2203	4300	6503	5435192	SO:0001583	missense	23136	exon4			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.433T>G	18.37:g.5445192A>C	ENSP00000343158:p.Leu145Val		5435192	NM_012307	B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.020995	0.75275	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111;ENST00000542652	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	5.82	1.58	0.23477	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.64402	D	0.000001	D	0.89357	0.6692	M	0.81239	2.535	0.80722	D	1	D;D;D;D;D	0.71674	0.993;0.998;0.998;0.997;0.99	D;D;D;D;D	0.85130	0.986;0.956;0.997;0.995;0.987	D	0.87316	0.2315	10	0.87932	D	0	.	9.2092	0.37309	0.3047:0.0:0.6953:0.0	.	145;145;36;145;145	F5GX05;Q9Y2J2-3;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	V	145;36;145;36;145;145;226	ENSP00000343158:L145V;ENSP00000441174:L145V;ENSP00000341138:L145V;ENSP00000382981:L145V	ENSP00000343158:L145V	L	-	1	2	EPB41L3	5435192	1.000000	0.71417	0.990000	0.47175	0.994000	0.84299	2.933000	0.48948	-0.018000	0.14079	0.383000	0.25322	TTG		0.393	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307	
ARHGAP28	79822	broad.mit.edu	37	18	6868208	6868208	+	Silent	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr18:6868208A>T	ENST00000383472.4	+	6	890	c.786A>T	c.(784-786)ggA>ggT	p.G262G	ARHGAP28_ENST00000419673.2_Silent_p.G103G|ARHGAP28_ENST00000418986.1_Silent_p.G103G|ARHGAP28_ENST00000531294.1_Silent_p.G98G|ARHGAP28_ENST00000262227.3_Silent_p.G210G|ARHGAP28_ENST00000400091.2_Silent_p.G262G|ARHGAP28_ENST00000314319.3_Silent_p.G103G|ARHGAP28_ENST00000532996.1_Silent_p.G85G			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	262					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.G262G(1)|p.G103G(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				CGGAGCCTGGACAGCCAGTTC	0.463																																					p.G103G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A309T	18						.						154.0	127.0	136.0					18																	6868208		2203	4300	6503	6858208	SO:0001819	synonymous_variant	79822	exon5			BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.786A>T	18.37:g.6868208A>T			6858208	NM_001010000	A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Silent	SNP	ENST00000383472.4	37																																																																																					0.463	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108	
ARHGAP28	79822	broad.mit.edu	37	18	6882152	6882152	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr18:6882152T>C	ENST00000383472.4	+	11	1411	c.1307T>C	c.(1306-1308)cTt>cCt	p.L436P	ARHGAP28_ENST00000419673.2_Missense_Mutation_p.L277P|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.L277P|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.L272P|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.L384P|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.L436P|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.L277P|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.L259P			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	436	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.L436P(1)|p.L277P(1)|p.L436R(1)|p.L277R(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				CGTGAAGAACTTGATGCCAAG	0.378																																					p.L277P												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.T830C	18						.						151.0	146.0	148.0					18																	6882152		2203	4300	6503	6872152	SO:0001583	missense	79822	exon10			BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.1307T>C	18.37:g.6882152T>C	ENSP00000372964:p.Leu436Pro		6872152	NM_001010000	A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	ENST00000383472.4	37		.	.	.	.	.	.	.	.	.	.	T	20.5	4.004380	0.74932	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86	5.68	5.68	0.88126	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.151215	0.44285	D	0.000463	T	0.60702	0.2289	M	0.91612	3.225	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.998;0.997	T	0.70718	-0.4795	10	0.87932	D	0	.	15.9369	0.79717	0.0:0.0:0.0:1.0	.	436;268;277;384	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	P	436;384;277;272;277;277;268;259	ENSP00000382963:L436P;ENSP00000262227:L384P;ENSP00000392660:L277P;ENSP00000437262:L272P;ENSP00000313506:L277P;ENSP00000406907:L277P	ENSP00000262227:L384P	L	+	2	0	ARHGAP28	6872152	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.655000	0.74392	2.172000	0.68678	0.533000	0.62120	CTT		0.378	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108	
LAMA1	284217	broad.mit.edu	37	18	6964726	6964726	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr18:6964726A>G	ENST00000389658.3	-	51	7365	c.7272T>C	c.(7270-7272)tcT>tcC	p.S2424S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2424	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.S2424S(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GGTTGAGGTCAGAAGATGCTC	0.458																																					p.S2424S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T7272C	18						.						145.0	127.0	133.0					18																	6964726		2203	4300	6503	6954726	SO:0001819	synonymous_variant	284217	exon51			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.7272T>C	18.37:g.6964726A>G			6954726	NM_005559		Silent	SNP	ENST00000389658.3	37	CCDS32787.1																																																																																				0.458	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
LAMA1	284217	broad.mit.edu	37	18	7049112	7049112	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr18:7049112C>T	ENST00000389658.3	-	5	826	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	245	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.E245K(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TCTTTAGGTTCCCGGTGGCTA	0.423																																					p.E245K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G733A	18						.						119.0	102.0	108.0					18																	7049112		2203	4300	6503	7039112	SO:0001583	missense	284217	exon5			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.733G>A	18.37:g.7049112C>T	ENSP00000374309:p.Glu245Lys		7039112	NM_005559		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	33	5.236604	0.95240	.	.	ENSG00000101680	ENST00000389658	T	0.17691	2.26	5.86	5.86	0.93980	Laminin, N-terminal (3);	0.245202	0.37857	N	0.001902	T	0.13628	0.0330	N	0.04018	-0.295	0.50467	D	0.999872	P	0.35872	0.525	B	0.40444	0.329	T	0.24657	-1.0154	10	0.72032	D	0.01	.	20.1931	0.98233	0.0:1.0:0.0:0.0	.	245	P25391	LAMA1_HUMAN	K	245	ENSP00000374309:E245K	ENSP00000374309:E245K	E	-	1	0	LAMA1	7039112	1.000000	0.71417	0.977000	0.42913	0.981000	0.71138	7.818000	0.86416	2.771000	0.95319	0.563000	0.77884	GAA		0.423	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
NEDD4L	23327	broad.mit.edu	37	18	56008342	56008342	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr18:56008342C>T	ENST00000400345.3	+	14	1481	c.1198C>T	c.(1198-1200)Cgc>Tgc	p.R400C	NEDD4L_ENST00000435432.2_Missense_Mutation_p.R259C|NEDD4L_ENST00000431212.2_Missense_Mutation_p.R279C|NEDD4L_ENST00000456986.1_Missense_Mutation_p.R279C|NEDD4L_ENST00000256830.9_Intron|NEDD4L_ENST00000382850.4_Missense_Mutation_p.R380C|NEDD4L_ENST00000356462.6_Intron|NEDD4L_ENST00000586263.1_Missense_Mutation_p.R372C|NEDD4L_ENST00000357895.5_Missense_Mutation_p.R392C|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000456173.2_Missense_Mutation_p.R259C|NEDD4L_ENST00000256832.7_Missense_Mutation_p.R259C	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	400	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)	p.R380C(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						TGCTAAGGGGCGCACATACTA	0.453																																					p.R380C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1138T	18						.						63.0	60.0	61.0					18																	56008342		2009	4164	6173	54159322	SO:0001583	missense	23327	exon13			AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.1198C>T	18.37:g.56008342C>T	ENSP00000383199:p.Arg400Cys		54159322	NM_015277	O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Missense_Mutation	SNP	ENST00000400345.3	37	CCDS45872.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.632057	0.87660	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	D;D;D;D;D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26;-2.26;-2.26;-2.26;-2.26	6.0	6.0	0.97389	WW/Rsp5/WWP (6);	0.000000	0.85682	D	0.000000	D	0.97148	0.9068	H	0.99609	4.655	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.998;0.998;0.999;0.998	D	0.98258	1.0497	10	0.87932	D	0	.	20.4949	0.99206	0.0:1.0:0.0:0.0	.	372;392;259;400;380	Q96PU5-6;Q96PU5-7;Q3LSM7;Q96PU5;Q96PU5-5	.;.;.;NED4L_HUMAN;.	C	400;380;259;279;392;259;259;279	ENSP00000383199:R400C;ENSP00000372301:R380C;ENSP00000256832:R259C;ENSP00000411947:R279C;ENSP00000350569:R392C;ENSP00000393395:R259C;ENSP00000405440:R259C;ENSP00000389406:R279C	ENSP00000256832:R259C	R	+	1	0	NEDD4L	54159322	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.956000	0.63645	2.848000	0.98002	0.655000	0.94253	CGC		0.453	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1		
ZNF236	7776	broad.mit.edu	37	18	74580769	74580769	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr18:74580769C>T	ENST00000253159.8	+	4	684	c.486C>T	c.(484-486)ttC>ttT	p.F162F	ZNF236_ENST00000320610.9_Silent_p.F164F|ZNF236_ENST00000583095.1_3'UTR	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	162					cellular response to glucose stimulus (GO:0071333)|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.F162F(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AGAAAGAGTTCGAGACCTCCT	0.493																																					p.F162F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C486T	18						.						85.0	89.0	88.0					18																	74580769		1995	4174	6169	72709757	SO:0001819	synonymous_variant	7776	exon4			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.486C>T	18.37:g.74580769C>T			72709757	NM_007345	B2RTX9|Q9UL37	Silent	SNP	ENST00000253159.8	37	CCDS42447.1																																																																																				0.493	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1		
ZNF236	7776	broad.mit.edu	37	18	74606978	74606978	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr18:74606978G>A	ENST00000253159.8	+	10	1619	c.1421G>A	c.(1420-1422)cGc>cAc	p.R474H	ZNF236_ENST00000320610.9_Missense_Mutation_p.R476H	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	474					cellular response to glucose stimulus (GO:0071333)|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.R474H(4)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GGCTCCATCCGCGAGGAGAAC	0.662																																					p.R474H												.	.	4	Substitution - Missense(4)	large_intestine(2)|lung(2)	c.G1421A	18						.						80.0	92.0	88.0					18																	74606978		2169	4258	6427	72735966	SO:0001583	missense	7776	exon10			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.1421G>A	18.37:g.74606978G>A	ENSP00000253159:p.Arg474His		72735966	NM_007345	B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	G	31	5.082607	0.94050	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.12255	2.7;2.87	5.26	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.34890	0.0913	M	0.67953	2.075	0.39795	D	0.972488	D	0.89917	1.0	D	0.68621	0.959	T	0.23226	-1.0194	10	0.62326	D	0.03	.	15.4673	0.75412	0.0:0.1394:0.8606:0.0	.	474	Q9UL36	ZN236_HUMAN	H	474	ENSP00000253159:R474H;ENSP00000444524:R474H	ENSP00000253159:R474H	R	+	2	0	ZNF236	72735966	1.000000	0.71417	0.008000	0.14137	0.260000	0.26232	9.493000	0.97960	1.139000	0.42245	0.563000	0.77884	CGC		0.662	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1		
PTPRM	5797	broad.mit.edu	37	18	8370941	8370941	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr18:8370941A>C	ENST00000332175.8	+	22	4106	c.3069A>C	c.(3067-3069)aaA>aaC	p.K1023N	PTPRM_ENST00000400053.4_Missense_Mutation_p.K961N|PTPRM_ENST00000444013.1_Missense_Mutation_p.K810N|PTPRM_ENST00000400060.4_Missense_Mutation_p.K1037N|PTPRM_ENST00000580170.1_Missense_Mutation_p.K1036N	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1023	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.K1023N(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AAGACATTAAAGTTACCCTAA	0.318																																					p.K1023N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3069C	18						.						92.0	94.0	93.0					18																	8370941		2203	4300	6503	8360941	SO:0001583	missense	5797	exon22			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.3069A>C	18.37:g.8370941A>C	ENSP00000331418:p.Lys1023Asn		8360941	NM_002845	A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.008171	0.75046	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81	5.56	3.21	0.36854	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.88149	0.6359	L	0.48935	1.535	0.50313	D	0.999867	D;D;D	0.89917	1.0;0.999;0.994	D;D;D	0.80764	0.994;0.994;0.985	D	0.86827	0.2008	10	0.72032	D	0.01	.	9.767	0.40567	0.8604:0.0:0.1396:0.0	.	810;1036;1023	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	N	1023;1037;961;810	ENSP00000331418:K1023N;ENSP00000382933:K1037N;ENSP00000382927:K961N;ENSP00000387608:K810N	ENSP00000331418:K1023N	K	+	3	2	PTPRM	8360941	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.204000	0.51082	0.500000	0.27991	0.528000	0.53228	AAA		0.318	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1		
MTCL1	23255	broad.mit.edu	37	18	8819069	8819069	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr18:8819069G>A	ENST00000306329.11	+	11	3925	c.3925G>A	c.(3925-3927)Gtg>Atg	p.V1309M	SOGA2_ENST00000359865.3_Missense_Mutation_p.V990M|SOGA2_ENST00000400050.3_Missense_Mutation_p.V949M|SOGA2_ENST00000517570.1_Missense_Mutation_p.V949M|SOGA2_ENST00000518815.1_Missense_Mutation_p.V315M|SOGA2_ENST00000306285.7_Missense_Mutation_p.V315M																							GCCCCGTCCAGTGGCCATGTG	0.597																																					p.V990M												.	.	0			c.G2968A	18						.						52.0	51.0	51.0					18																	8819069		2203	4300	6503	8809069	SO:0001583	missense	23255	exon13																														ENST00000306329.11:c.3925G>A	18.37:g.8819069G>A	ENSP00000305027:p.Val1309Met		8809069	NM_015210		Missense_Mutation	SNP	ENST00000306329.11	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.75|10.75	1.437809|1.437809	0.25900|0.25900	.|.	.|.	ENSG00000168502|ENSG00000168502	ENST00000519823|ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	.|T;T;T;T	.|0.42900	.|0.96;0.96;0.96;0.96	6.07|6.07	-12.1|-12.1	0.00011|0.00011	.|.	.|1.840540	.|0.02651	.|N	.|0.106426	T|T	0.13200|0.13200	0.0320|0.0320	N|N	0.02539|0.02539	-0.55|-0.55	0.09310|0.09310	N|N	1|1	.|B;B	.|0.06786	.|0.001;0.0	.|B;B	.|0.06405	.|0.002;0.002	T|T	0.29181|0.29181	-1.0020|-1.0020	5|10	.|0.29301	.|T	.|0.29	-1.9333|-1.9333	3.367|3.367	0.07207|0.07207	0.5368:0.1864:0.0813:0.1954|0.5368:0.1864:0.0813:0.1954	.|.	.|1300;990	.|Q9Y4B5;Q9Y4B5-3	.|CC165_HUMAN;.	N|M	95|1011;949;990;949;315	.|ENSP00000429556:V949M;ENSP00000352927:V990M;ENSP00000382924:V949M;ENSP00000303670:V315M	.|ENSP00000303670:V315M	S|V	+|+	2|1	0|0	CCDC165|CCDC165	8809069|8809069	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-2.910000|-2.910000	0.00699|0.00699	-4.196000|-4.196000	0.00066|0.00066	-0.812000|-0.812000	0.03155|0.03155	AGT|GTG		0.597	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1		
ANKRD12	23253	broad.mit.edu	37	18	9211613	9211613	+	Silent	SNP	G	G	A	rs371533373		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr18:9211613G>A	ENST00000262126.4	+	6	723	c.483G>A	c.(481-483)acG>acA	p.T161T	ANKRD12_ENST00000540578.2_3'UTR|ANKRD12_ENST00000383440.2_Silent_p.T138T|ANKRD12_ENST00000400020.3_Silent_p.T138T	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	161						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.T161T(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						CACAAACAACGCCTGCCCAAA	0.348																																					p.T161T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G483A	18						.	G	,,	0,4406		0,0,2203	67.0	68.0	68.0		414,414,483	0.4	1.0	18		68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ANKRD12	NM_001083625.2,NM_001204056.1,NM_015208.4	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	138/2040,138/2040,161/2063	9211613	1,13005	2203	4300	6503	9201613	SO:0001819	synonymous_variant	23253	exon6			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.483G>A	18.37:g.9211613G>A			9201613	NM_015208	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Silent	SNP	ENST00000262126.4	37	CCDS11843.1																																																																																				0.348	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208	
RALBP1	10928	broad.mit.edu	37	18	9533423	9533423	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr18:9533423C>T	ENST00000019317.4	+	8	1769	c.1546C>T	c.(1546-1548)Cgc>Tgc	p.R516C	RALBP1_ENST00000383432.3_Missense_Mutation_p.R516C			Q15311	RBP1_HUMAN	ralA binding protein 1	516					ATP catabolic process (GO:0006200)|chemotaxis (GO:0006935)|positive regulation of Cdc42 GTPase activity (GO:0043089)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|transport (GO:0006810)	cytosol (GO:0005829)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ATPase activity, coupled to movement of substances (GO:0043492)|GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)	p.R516C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14					Carbamazepine(DB00564)|Doxorubicin(DB00997)|Sorafenib(DB00398)|Vincristine(DB00541)	AGAGATTGAACGCCTCAGAGC	0.438																																					p.R516C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1546T	18						.						68.0	73.0	71.0					18																	9533423		2203	4300	6503	9523423	SO:0001583	missense	10928	exon8			L42542	CCDS11845.1	18p11.22	2006-04-22			ENSG00000017797	ENSG00000017797			9841	protein-coding gene	gene with protein product		605801				7673236	Standard	NM_006788		Approved	RLIP76, RIP1, RIP	uc002koc.3	Q15311	OTTHUMG00000131596	ENST00000019317.4:c.1546C>T	18.37:g.9533423C>T	ENSP00000019317:p.Arg516Cys		9523423	NM_006788	D3DUI0	Missense_Mutation	SNP	ENST00000019317.4	37	CCDS11845.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.115892	0.37339	.	.	ENSG00000017797	ENST00000019317;ENST00000383432	T;T	0.14022	2.54;2.54	4.42	3.55	0.40652	.	0.000000	0.85682	D	0.000000	T	0.12178	0.0296	L	0.38953	1.18	0.80722	D	1	B	0.24258	0.1	B	0.19666	0.026	T	0.06607	-1.0817	10	0.54805	T	0.06	0.0488	12.965	0.58480	0.0:0.9215:0.0:0.0785	.	516	Q15311	RBP1_HUMAN	C	516	ENSP00000019317:R516C;ENSP00000372924:R516C	ENSP00000019317:R516C	R	+	1	0	RALBP1	9523423	1.000000	0.71417	0.551000	0.28230	0.653000	0.38743	5.842000	0.69417	1.224000	0.43551	-0.215000	0.12644	CGC		0.438	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254479.1	NM_006788	
SERPINB10	5273	broad.mit.edu	37	18	61584739	61584739	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr18:61584739delA	ENST00000238508.3	+	3	277	c.218delA	c.(217-219)gaafs	p.E73fs		NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	73					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R76fs*7(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				CCTGAAAGTGAAAAAAAAAGG	0.284																																					p.E73fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.218delA	18						.			39,129,4010		1,0,37,2,125,1924	26.0	26.0	26.0			5.3	1.0	18		27	67,232,7845		0,0,67,0,232,3773	no	codingComplex	SERPINB10	NM_005024.1		1,0,104,2,357,5697	A1A1,A1A2,A1R,A2A2,A2R,RR		3.6714,4.0211,3.79			61584739	106,361,11855	2173	4255	6428	59735719	SO:0001589	frameshift_variant	5273	exon2			U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"""Serine (or cysteine) peptidase inhibitors"""	8942	protein-coding gene	gene with protein product	"""protease inhibitor 10 (ovalbumin type, bomapin)"""	602058	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"""	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.218delA	18.37:g.61584739delA	ENSP00000238508:p.Glu73fs		59735719	NM_005024	Q4VAX4|Q4VAX7	Frame_Shift_Del	DEL	ENST00000238508.3	37	CCDS11990.1																																																																																				0.284	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3	NM_005024	
ZNF236	7776	broad.mit.edu	37	18	74639131	74639131	+	Missense_Mutation	SNP	C	C	T	rs199740937		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr18:74639131C>T	ENST00000253159.8	+	23	4358	c.4160C>T	c.(4159-4161)aCg>aTg	p.T1387M	ZNF236_ENST00000320610.9_Missense_Mutation_p.T1389M	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1387					cellular response to glucose stimulus (GO:0071333)|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.T1387M(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AATAACATTACGTTGCAGGTA	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		21271	0.001		0.0	False		,,,				2504	0.0				p.T1387M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4160T	18						.						138.0	127.0	131.0					18																	74639131		1949	4150	6099	72768119	SO:0001583	missense	7776	exon23			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.4160C>T	18.37:g.74639131C>T	ENSP00000253159:p.Thr1387Met		72768119	NM_007345	B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	CCDS42447.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	18.37	3.608313	0.66558	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.18174	2.23;2.6	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.34542	0.0901	L	0.32530	0.975	0.47009	D	0.999289	D	0.89917	1.0	D	0.85130	0.997	T	0.03662	-1.1015	10	0.66056	D	0.02	.	19.7726	0.96373	0.0:1.0:0.0:0.0	.	1387	Q9UL36	ZN236_HUMAN	M	1387	ENSP00000253159:T1387M;ENSP00000444524:T1387M	ENSP00000253159:T1387M	T	+	2	0	ZNF236	72768119	1.000000	0.71417	0.000000	0.03702	0.171000	0.22731	5.344000	0.65981	2.747000	0.94245	0.551000	0.68910	ACG		0.443	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1		
RBFA	79863	broad.mit.edu	37	18	77805877	77805877	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr18:77805877delA	ENST00000306735.5	+	7	892	c.754delA	c.(754-756)aaafs	p.K252fs	RP11-795F19.5_ENST00000564012.1_Intron|RBFA_ENST00000262197.7_Frame_Shift_Del_p.T223fs|RP11-795F19.5_ENST00000569722.1_Intron	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	252					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)		p.R253fs*19(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						TATGGAGTACAAAAGGAGGAA	0.587																																					p.T223fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.669delA	18						.						64.0	75.0	71.0					18																	77805877		2203	4300	6503	75906865	SO:0001589	frameshift_variant	79863	exon6			BC014195	CCDS12021.1, CCDS54194.1	18q23	2010-10-21	2010-10-21	2010-10-21	ENSG00000101546	ENSG00000101546			26120	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 22"""	C18orf22		12477932	Standard	NM_024805		Approved	FLJ21172, HsT169	uc002lns.3	Q8N0V3	OTTHUMG00000132923	ENST00000306735.5:c.754delA	18.37:g.77805877delA	ENSP00000305696:p.Lys252fs		75906865	NM_001171967	Q6PF07|Q8WZ65|Q9H776	Frame_Shift_Del	DEL	ENST00000306735.5	37	CCDS12021.1																																																																																				0.587	RBFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256436.2	NM_024805	
ABCA7	10347	broad.mit.edu	37	19	1056917	1056917	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:1056917C>T	ENST00000263094.6	+	34	4829	c.4598C>T	c.(4597-4599)tCg>tTg	p.S1533L	ABCA7_ENST00000435683.2_Missense_Mutation_p.S1395L|ABCA7_ENST00000433129.1_Missense_Mutation_p.S1533L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1533					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)	p.S1533L(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGGCCTCCTCGGTGGACGTC	0.567																																					p.S1533L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4598T	19						.						289.0	226.0	247.0					19																	1056917		2203	4300	6503	1007917	SO:0001583	missense	10347	exon34			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.4598C>T	19.37:g.1056917C>T	ENSP00000263094:p.Ser1533Leu		1007917	NM_019112	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709558	0.48517	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.86432	-2.12;-2.12	3.92	3.92	0.45320	.	.	.	.	.	D	0.91818	0.7411	M	0.67569	2.06	0.35014	D	0.757215	D;P	0.89917	1.0;0.879	D;P	0.77557	0.99;0.577	D	0.93571	0.6904	9	0.38643	T	0.18	.	14.6373	0.68699	0.0:1.0:0.0:0.0	.	658;1533	D6W5Y0;Q8IZY2	.;ABCA7_HUMAN	L	1533	ENSP00000263094:S1533L;ENSP00000414062:S1533L	ENSP00000263094:S1533L	S	+	2	0	ABCA7	1007917	1.000000	0.71417	0.862000	0.33874	0.092000	0.18411	7.490000	0.81461	2.032000	0.59987	0.561000	0.74099	TCG		0.567	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112	
ANGPTL6	83854	broad.mit.edu	37	19	10205579	10205579	+	Silent	SNP	C	C	T	rs377687155		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:10205579C>T	ENST00000253109.4	-	3	856	c.618G>A	c.(616-618)ccG>ccA	p.P206P	ANGPTL6_ENST00000589181.1_Silent_p.P206P|ANGPTL6_ENST00000592641.1_Silent_p.P206P	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	206					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)		p.P206P(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			CAAGACGGACCGGAACCACAG	0.627																																					p.P206P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G618A	19						.	C		0,4406		0,0,2203	47.0	39.0	42.0		618	-8.5	0.0	19		42	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ANGPTL6	NM_031917.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		206/471	10205579	1,13005	2203	4300	6503	10066579	SO:0001819	synonymous_variant	83854	exon3			AB054064	CCDS12224.1	19p13.2	2013-02-06				ENSG00000130812		"""Fibrinogen C domain containing"""	23140	protein-coding gene	gene with protein product	"""angiopoietin-related protein 5"""	609336				12871997	Standard	NM_031917		Approved	ARP5, AGF	uc002mmy.1	Q8NI99		ENST00000253109.4:c.618G>A	19.37:g.10205579C>T			10066579	NM_031917	A5PKV7|Q9BZZ0	Silent	SNP	ENST00000253109.4	37	CCDS12224.1																																																																																				0.627	ANGPTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451142.1	NM_031917	
KEAP1	9817	broad.mit.edu	37	19	10610337	10610337	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:10610337T>C	ENST00000171111.5	-	2	920	c.373A>G	c.(373-375)Att>Gtt	p.I125V	KEAP1_ENST00000393623.2_Missense_Mutation_p.I125V|KEAP1_ENST00000588024.1_5'Flank	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	125	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)		p.I125V(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	ATACCCTCAATGGACACCACC	0.597																																					p.I125V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A373G	19						.						118.0	95.0	103.0					19																	10610337		2203	4300	6503	10471337	SO:0001583	missense	9817	exon2			AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.373A>G	19.37:g.10610337T>C	ENSP00000171111:p.Ile125Val		10471337	NM_203500	B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	T	19.19	3.780597	0.70222	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.72394	-0.65;-0.65	4.68	4.68	0.58851	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.051838	0.64402	D	0.000001	T	0.73528	0.3598	L	0.53729	1.69	0.45733	D	0.998634	P	0.48503	0.911	P	0.51516	0.672	T	0.76664	-0.2876	10	0.72032	D	0.01	.	12.0934	0.53739	0.0:0.0:0.0:1.0	.	125	Q14145	KEAP1_HUMAN	V	125	ENSP00000171111:I125V;ENSP00000377245:I125V	ENSP00000171111:I125V	I	-	1	0	KEAP1	10471337	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.017000	0.64047	1.756000	0.51951	0.379000	0.24179	ATT		0.597	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289	
ATG4D	84971	broad.mit.edu	37	19	10662903	10662903	+	Missense_Mutation	SNP	G	G	A	rs371466606		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:10662903G>A	ENST00000309469.4	+	9	1318	c.1145G>A	c.(1144-1146)cGc>cAc	p.R382H	RNU7-140P_ENST00000459546.1_RNA|ATG4D_ENST00000540862.1_Missense_Mutation_p.R49H|MIR1238_ENST00000408483.1_RNA	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	382					apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)	p.R382H(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			ACCTCGCCCCGCAAGATGGCC	0.622																																					p.R382H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1145A	19						.	G	HIS/ARG	0,4406		0,0,2203	84.0	78.0	80.0		1145	5.3	1.0	19		80	1,8599	1.2+/-3.3	0,1,4299	no	missense	ATG4D	NM_032885.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	382/475	10662903	1,13005	2203	4300	6503	10523903	SO:0001583	missense	84971	exon9			AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"""AUT-like 4, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog D (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog D (S. cerevisiae)"""	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582	ENST00000309469.4:c.1145G>A	19.37:g.10662903G>A	ENSP00000311318:p.Arg382His		10523903	NM_032885	Q969K0	Missense_Mutation	SNP	ENST00000309469.4	37	CCDS12241.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.997823	0.93227	0.0	1.16E-4	ENSG00000130734	ENST00000309469;ENST00000540862	T	0.47177	0.85	5.28	5.28	0.74379	.	0.097789	0.64402	D	0.000003	T	0.69287	0.3094	M	0.75447	2.3	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.77557	0.985;0.99	T	0.69771	-0.5055	10	0.48119	T	0.1	-19.8095	18.0197	0.89252	0.0:0.0:1.0:0.0	.	319;382	B4DGM8;Q86TL0	.;ATG4D_HUMAN	H	382;49	ENSP00000311318:R382H	ENSP00000311318:R382H	R	+	2	0	ATG4D	10523903	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	4.298000	0.59067	2.635000	0.89317	0.561000	0.74099	CGC		0.622	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885	
SLC44A2	57153	broad.mit.edu	37	19	10742209	10742209	+	Missense_Mutation	SNP	C	C	A	rs377482215		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:10742209C>A	ENST00000335757.5	+	7	876	c.500C>A	c.(499-501)cCc>cAc	p.P167H	SLC44A2_ENST00000586078.1_Missense_Mutation_p.P167H|SLC44A2_ENST00000407327.4_Missense_Mutation_p.P165H			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	167					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)	p.P167H(1)		NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CCCAGCAAACCCTGTGAGTCA	0.617																																					p.P167H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C500A	19						.						76.0	70.0	72.0					19																	10742209		2203	4300	6503	10603209	SO:0001583	missense	57153	exon7			AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"""Solute carriers"""	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.500C>A	19.37:g.10742209C>A	ENSP00000336888:p.Pro167His		10603209	NM_020428	B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Missense_Mutation	SNP	ENST00000335757.5	37	CCDS12245.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.908856	0.72868	.	.	ENSG00000129353	ENST00000407327;ENST00000335757;ENST00000380614	T;T	0.13089	2.62;2.62	4.73	3.69	0.42338	.	0.292221	0.34580	N	0.003855	T	0.38904	0.1058	M	0.90082	3.085	0.46416	D	0.999038	D;P	0.60575	0.988;0.943	P;P	0.60345	0.873;0.762	T	0.49504	-0.8933	10	0.87932	D	0	.	12.0599	0.53557	0.0:0.9144:0.0:0.0856	.	167;165	Q8IWA5;Q8IWA5-3	CTL2_HUMAN;.	H	165;167;167	ENSP00000385135:P165H;ENSP00000336888:P167H	ENSP00000336888:P167H	P	+	2	0	SLC44A2	10603209	0.959000	0.32827	0.324000	0.25361	0.798000	0.45092	4.390000	0.59646	1.232000	0.43678	0.456000	0.33151	CCC		0.617	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452045.1		
ZNF700	90592	broad.mit.edu	37	19	12059853	12059853	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:12059853A>G	ENST00000254321.5	+	4	1157	c.1014A>G	c.(1012-1014)caA>caG	p.Q338Q	ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF700_ENST00000482090.1_Silent_p.Q320Q|CTD-2006C1.12_ENST00000586394.1_RNA	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	338					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.Q338Q(1)	ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						AATGTAAGCAATATGGGGAAG	0.363																																					p.Q338Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1014G	19						.						79.0	86.0	84.0					19																	12059853		2203	4300	6503	11920853	SO:0001819	synonymous_variant	90592	exon4			AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1014A>G	19.37:g.12059853A>G			11920853	NM_144566	B9EGU4	Silent	SNP	ENST00000254321.5	37	CCDS32915.1																																																																																				0.363	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566	
CACNA1A	773	broad.mit.edu	37	19	13410103	13410103	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:13410103G>A	ENST00000360228.5	-	19	2343	c.2344C>T	c.(2344-2346)Cga>Tga	p.R782*	CACNA1A_ENST00000573710.2_Nonsense_Mutation_p.R783*	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	783					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.R783*(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	TTCTGCTTTCGCATCTCACTG	0.582																																					p.R783X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C2347T	19						.						98.0	103.0	101.0					19																	13410103		2093	4215	6308	13271103	SO:0001587	stop_gained	773	exon19			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.2344C>T	19.37:g.13410103G>A	ENSP00000353362:p.Arg782*		13271103	NM_001174080	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Nonsense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	G	42	9.246365	0.99113	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	.	.	.	4.0	0.337	0.15966	.	0.688712	0.11003	U	0.610332	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.5203	0.50546	0.0:0.0:0.5355:0.4645	.	.	.	.	X	782;786;783;783	.	ENSP00000317661:R783X	R	-	1	2	CACNA1A	13271103	0.999000	0.42202	0.990000	0.47175	0.908000	0.53690	1.880000	0.39628	-0.004000	0.14419	0.561000	0.74099	CGA		0.582	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068	
ASF1B	55723	broad.mit.edu	37	19	14237031	14237031	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:14237031A>C	ENST00000263382.3	-	2	627	c.128T>G	c.(127-129)aTt>aGt	p.I43S	ASF1B_ENST00000592798.1_Missense_Mutation_p.I43S|ASF1B_ENST00000474890.1_Missense_Mutation_p.I43S	NM_018154.2	NP_060624.1	Q9NVP2	ASF1B_HUMAN	anti-silencing function 1B histone chaperone	43	Interaction with CHAF1B.|Interaction with histone H3. {ECO:0000250}.				cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.I43S(1)		endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						GCCAACATAAATGATCTTCCA	0.448																																					p.I43S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T128G	19						.						114.0	105.0	108.0					19																	14237031		2203	4300	6503	14098031	SO:0001583	missense	55723	exon2			AF279307	CCDS12306.1	19p13.12	2013-05-01	2013-05-01		ENSG00000105011	ENSG00000105011			20996	protein-coding gene	gene with protein product		609190	"""ASF1 anti-silencing function 1 homolog B (S. cerevisiae)"""			11897662, 11470414	Standard	NM_018154		Approved	FLJ10604	uc002mye.3	Q9NVP2	OTTHUMG00000150401	ENST00000263382.3:c.128T>G	19.37:g.14237031A>C	ENSP00000263382:p.Ile43Ser		14098031	NM_018154	Q53G51|Q9NVZ0	Missense_Mutation	SNP	ENST00000263382.3	37	CCDS12306.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.263077	0.80358	.	.	ENSG00000105011	ENST00000263382	.	.	.	5.95	4.94	0.65067	.	0.047856	0.85682	D	0.000000	T	0.78201	0.4246	M	0.92649	3.33	0.80722	D	1	P	0.50528	0.936	P	0.54759	0.76	T	0.81300	-0.0995	9	0.66056	D	0.02	.	9.858	0.41096	0.9205:0.0:0.0795:0.0	.	43	Q9NVP2	ASF1B_HUMAN	S	43	.	ENSP00000263382:I43S	I	-	2	0	ASF1B	14098031	1.000000	0.71417	0.991000	0.47740	0.991000	0.79684	7.189000	0.77747	1.098000	0.41479	0.533000	0.62120	ATT		0.448	ASF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317946.1	NM_018154	
CCDC105	126402	broad.mit.edu	37	19	15131279	15131279	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:15131279G>A	ENST00000292574.3	+	3	764	c.682G>A	c.(682-684)Gcc>Acc	p.A228T		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	228						extracellular vesicular exosome (GO:0070062)		p.A228T(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CCAGACCCTGGCCTCCTGCCG	0.577																																					p.A228T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G682A	19						.						37.0	34.0	35.0					19																	15131279		2203	4300	6503	14992279	SO:0001583	missense	126402	exon3			AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.682G>A	19.37:g.15131279G>A	ENSP00000292574:p.Ala228Thr		14992279	NM_173482	Q8N7T5|Q8NDL5	Missense_Mutation	SNP	ENST00000292574.3	37	CCDS12322.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.268026	0.40095	.	.	ENSG00000160994	ENST00000292574	T	0.02395	4.31	4.09	4.09	0.47781	.	0.298040	0.24109	N	0.041466	T	0.04048	0.0113	M	0.62723	1.935	0.34340	D	0.688663	P	0.38711	0.643	B	0.36464	0.225	T	0.37407	-0.9707	10	0.13108	T	0.6	-22.1697	12.2139	0.54396	0.0:0.0:1.0:0.0	.	228	Q8IYK2	CC105_HUMAN	T	228	ENSP00000292574:A228T	ENSP00000292574:A228T	A	+	1	0	CCDC105	14992279	1.000000	0.71417	1.000000	0.80357	0.410000	0.31052	3.152000	0.50677	1.982000	0.57802	0.558000	0.71614	GCC		0.577	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482	
OR1I1	126370	broad.mit.edu	37	19	15198440	15198440	+	Silent	SNP	C	C	T	rs147792989	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:15198440C>T	ENST00000209540.2	+	1	650	c.564C>T	c.(562-564)tcC>tcT	p.S188S		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S188S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						TGAAGCTCTCCGGCTCAGACA	0.547													C|||	15	0.00299521	0.0113	0.0	5008	,	,		22376	0.0		0.0	False		,,,				2504	0.0				p.S188S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C564T	19						.	C		17,4389	24.3+/-50.5	0,17,2186	117.0	104.0	108.0		564	4.8	1.0	19	dbSNP_134	108	0,8600		0,0,4300	no	coding-synonymous	OR1I1	NM_001004713.1		0,17,6486	TT,TC,CC		0.0,0.3858,0.1307		188/356	15198440	17,12989	2203	4300	6503	15059440	SO:0001819	synonymous_variant	126370	exon1			AC004794	CCDS32937.1	19p13.1	2012-08-09				ENSG00000094661		"""GPCR / Class A : Olfactory receptors"""	8207	protein-coding gene	gene with protein product							Standard	NM_001004713		Approved	OR1I1P, OR19-20, OR1I1Q	uc010xoe.2	O60431		ENST00000209540.2:c.564C>T	19.37:g.15198440C>T			15059440	NM_001004713	Q96R92	Silent	SNP	ENST00000209540.2	37	CCDS32937.1																																																																																				0.547	OR1I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465665.1		
ILVBL	10994	broad.mit.edu	37	19	15227063	15227063	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:15227063C>T	ENST00000263383.3	-	12	1510	c.1371G>A	c.(1369-1371)acG>acA	p.T457T	ILVBL_ENST00000531635.1_5'Flank|ILVBL_ENST00000534378.1_Silent_p.T350T	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	457						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)	p.T457T(1)		NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						TGTCAGGTAGCGTTTCCTCCA	0.642																																					p.T457T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1371A	19						.						119.0	103.0	108.0					19																	15227063		2203	4300	6503	15088063	SO:0001819	synonymous_variant	10994	exon12			U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"""acetolactate synthase homolog"""	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.1371G>A	19.37:g.15227063C>T			15088063	NM_006844	O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Silent	SNP	ENST00000263383.3	37	CCDS12325.1																																																																																				0.642	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	NM_006844	
OR10H1	26539	broad.mit.edu	37	19	15918449	15918449	+	Silent	SNP	G	G	A	rs187451101	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:15918449G>A	ENST00000334920.2	-	1	487	c.399C>T	c.(397-399)aaC>aaT	p.N133N		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N133N(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						TCATGAGCACGTTGTAGCGCA	0.637													.|||	4	0.000798722	0.0	0.0	5008	,	,		19565	0.004		0.0	False		,,,				2504	0.0				p.N133N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C399T	19						.	G		0,4406		0,0,2203	73.0	59.0	64.0		399	-6.1	0.0	19		64	2,8598		0,2,4298	no	coding-synonymous	OR10H1	NM_013940.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		133/319	15918449	2,13004	2203	4300	6503	15779449	SO:0001819	synonymous_variant	26539	exon1			AC004510	CCDS12335.1	19p13.1	2012-08-09				ENSG00000186723		"""GPCR / Class A : Olfactory receptors"""	8172	protein-coding gene	gene with protein product							Standard	NM_013940		Approved		uc002nbq.2	Q9Y4A9		ENST00000334920.2:c.399C>T	19.37:g.15918449G>A			15779449	NM_013940	Q6IFQ2|Q96R59	Silent	SNP	ENST00000334920.2	37	CCDS12335.1																																																																																				0.637	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460364.1		
C19orf44	84167	broad.mit.edu	37	19	16614030	16614030	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:16614030G>A	ENST00000221671.3	+	3	1070	c.914G>A	c.(913-915)aGt>aAt	p.S305N	C19orf44_ENST00000594035.1_Missense_Mutation_p.S305N|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	305								p.S305N(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						CACGTTTCCAGTGACACCGCC	0.552																																					p.S305N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G914A	19						.						110.0	102.0	105.0					19																	16614030		2203	4300	6503	16475030	SO:0001583	missense	84167	exon3			AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.914G>A	19.37:g.16614030G>A	ENSP00000221671:p.Ser305Asn		16475030	NM_032207	Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.599526	0.28534	.	.	ENSG00000105072	ENST00000221671	.	.	.	4.54	-5.57	0.02521	.	0.952134	0.08708	N	0.905336	T	0.13200	0.0320	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.19516	-1.0303	9	0.44086	T	0.13	-1.002	1.3124	0.02100	0.3775:0.2792:0.2139:0.1294	.	305;305	Q9H6X5;Q9H6X5-2	CS044_HUMAN;.	N	305	.	ENSP00000221671:S305N	S	+	2	0	C19orf44	16475030	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.160000	0.03147	-0.489000	0.06716	-0.137000	0.14449	AGT		0.552	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207	
NWD1	284434	broad.mit.edu	37	19	16890222	16890222	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:16890222G>A	ENST00000552788.1	+	10	2677	c.2677G>A	c.(2677-2679)Gct>Act	p.A893T	NWD1_ENST00000339803.6_Missense_Mutation_p.A758T|NWD1_ENST00000379808.3_Missense_Mutation_p.A893T|NWD1_ENST00000524140.2_Missense_Mutation_p.A893T|NWD1_ENST00000549814.1_Missense_Mutation_p.A893T|NWD1_ENST00000523826.1_Missense_Mutation_p.A687T			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	893							ATP binding (GO:0005524)	p.A893T(1)|p.A758T(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGGCATCATGGCTGTGTGGGA	0.542											OREG0025337	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A893T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2677A	19						.						220.0	175.0	190.0					19																	16890222		2203	4300	6503	16751222	SO:0001583	missense	284434	exon12			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.2677G>A	19.37:g.16890222G>A	ENSP00000447224:p.Ala893Thr	713	16751222	NM_001007525	C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37		.	.	.	.	.	.	.	.	.	.	-	8.177	0.793055	0.16327	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.39592	1.61;1.07;1.61;3.59;3.59;3.59	5.08	4.05	0.47172	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.721626	0.13229	N	0.403808	T	0.29389	0.0732	L	0.34521	1.04	0.09310	N	1	B;B;B	0.17852	0.005;0.023;0.024	B;B;B	0.12156	0.001;0.007;0.005	T	0.21690	-1.0238	10	0.13470	T	0.59	-0.4071	9.3514	0.38140	0.1001:0.0:0.8999:0.0	.	893;893;758	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	T	758;893;893;893;687;893;758	ENSP00000428579:A893T;ENSP00000447548:A893T;ENSP00000369136:A893T;ENSP00000428955:A687T;ENSP00000447224:A893T;ENSP00000340159:A758T	ENSP00000340159:A758T	A	+	1	0	NWD1	16751222	0.967000	0.33354	0.044000	0.18714	0.235000	0.25334	1.472000	0.35376	1.162000	0.42619	0.479000	0.44913	GCT		0.542	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525	
SIN3B	23309	broad.mit.edu	37	19	16976364	16976364	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:16976364C>T	ENST00000248054.5	+	11	1548	c.1527C>T	c.(1525-1527)cgC>cgT	p.R509R	SIN3B_ENST00000379803.1_Silent_p.R541R|SIN3B_ENST00000595541.1_Silent_p.R99R					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						TGATCCAGCGCCGTGCCATTT	0.592																																					p.R541R												.	.	0			c.C1623T	19						.						81.0	62.0	68.0					19																	16976364		2203	4300	6503	16837364	SO:0001819	synonymous_variant	23309	exon12			AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.1527C>T	19.37:g.16976364C>T			16837364	NM_015260		Silent	SNP	ENST00000248054.5	37																																																																																					0.592	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260	
CPAMD8	27151	broad.mit.edu	37	19	17036130	17036130	+	Silent	SNP	C	C	T	rs377275521	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:17036130C>T	ENST00000443236.1	-	26	3595	c.3564G>A	c.(3562-3564)ccG>ccA	p.P1188P		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1141						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P1188P(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CACAGCCAAACGGCAGCCGCA	0.557													G|||	5	0.000998403	0.0	0.0014	5008	,	,		22438	0.0		0.004	False		,,,				2504	0.0				p.P1188P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3564A	19						.	G		1,3969		0,1,1984	84.0	89.0	88.0		3564	1.6	1.0	19		88	0,8322		0,0,4161	no	coding-synonymous	CPAMD8	NM_015692.2		0,1,6145	TT,TC,CC		0.0,0.0252,0.0081		1188/1933	17036130	1,12291	1985	4161	6146	16897130	SO:0001819	synonymous_variant	27151	exon26			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.3564G>A	19.37:g.17036130C>T			16897130	NM_015692	Q8NC09|Q9ULD7	Silent	SNP	ENST00000443236.1	37	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.470518	0.43942	2.52E-4	0.0	ENSG00000160111	ENST00000443236	.	.	.	2.84	1.64	0.23874	.	.	.	.	.	T	0.53818	0.1820	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41875	-0.9484	4	.	.	.	.	6.4269	0.21773	0.0:0.2618:0.3822:0.356	.	.	.	.	H	1199	.	.	R	-	2	0	CPAMD8	16897130	1.000000	0.71417	0.991000	0.47740	0.829000	0.46940	0.542000	0.23222	0.197000	0.20387	-0.216000	0.12614	CGT		0.557	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692	
USHBP1	83878	broad.mit.edu	37	19	17373374	17373374	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:17373374G>A	ENST00000252597.3	-	4	802	c.629C>T	c.(628-630)aCg>aTg	p.T210M	USHBP1_ENST00000431146.2_Missense_Mutation_p.T146M|USHBP1_ENST00000598570.1_5'Flank	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1									p.T210M(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						TTTCTGCAGCGTCTCCTTCTC	0.602																																					p.T210M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C629T	19						.						42.0	37.0	38.0					19																	17373374		2198	4297	6495	17234374	SO:0001583	missense	83878	exon4			AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.629C>T	19.37:g.17373374G>A	ENSP00000252597:p.Thr210Met		17234374	NM_031941		Missense_Mutation	SNP	ENST00000252597.3	37	CCDS12353.1	.	.	.	.	.	.	.	.	.	.	G	8.287	0.816951	0.16607	.	.	ENSG00000130307	ENST00000252597;ENST00000431146;ENST00000324554	T;T	0.18502	2.22;2.21	3.83	-4.93	0.03066	.	1.742670	0.02971	N	0.144330	T	0.08313	0.0207	N	0.11201	0.11	0.24333	N	0.994994	B;B;B	0.22211	0.066;0.016;0.066	B;B;B	0.12156	0.007;0.003;0.007	T	0.32161	-0.9917	10	0.36615	T	0.2	-0.0338	6.0766	0.19919	0.4869:0.1344:0.3787:0.0	.	146;210;210	B4DUE8;Q8N8Y1;Q8N6Y0	.;.;USBP1_HUMAN	M	210;146;210	ENSP00000252597:T210M;ENSP00000407902:T146M	ENSP00000252597:T210M	T	-	2	0	USHBP1	17234374	0.000000	0.05858	0.810000	0.32431	0.756000	0.42949	-2.766000	0.00782	-0.353000	0.08224	-0.671000	0.03813	ACG		0.602	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941	
UNC13A	23025	broad.mit.edu	37	19	17732650	17732650	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:17732650T>C	ENST00000519716.2	-	37	4232	c.4233A>G	c.(4231-4233)ggA>ggG	p.G1411G	UNC13A_ENST00000551649.1_Silent_p.G1411G|UNC13A_ENST00000552293.1_Intron|UNC13A_ENST00000252773.7_Silent_p.G1411G|UNC13A_ENST00000550896.1_Intron|UNC13A_ENST00000428389.2_Silent_p.G1499G	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1411	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				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)	p.G1411G(1)|p.G1499G(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CCTTTTCTAATCCCTTGCCAT	0.557																																					p.G1411G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A4233G	19						.						132.0	133.0	133.0					19																	17732650		1992	4158	6150	17593650	SO:0001819	synonymous_variant	23025	exon35			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		ENST00000519716.2:c.4233A>G	19.37:g.17732650T>C			17593650	NM_001080421	E5RHY9	Silent	SNP	ENST00000519716.2	37	CCDS46013.2																																																																																				0.557	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604	
UNC13A	23025	broad.mit.edu	37	19	17760388	17760388	+	Missense_Mutation	SNP	C	C	T	rs34741580		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:17760388C>T	ENST00000519716.2	-	13	1447	c.1448G>A	c.(1447-1449)gGc>gAc	p.G483D	UNC13A_ENST00000551649.1_Missense_Mutation_p.G483D|UNC13A_ENST00000552293.1_Missense_Mutation_p.G483D|UNC13A_ENST00000252773.7_Missense_Mutation_p.G483D|UNC13A_ENST00000550896.1_Missense_Mutation_p.G483D|UNC13A_ENST00000428389.2_Missense_Mutation_p.G571D	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	483					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)	p.G483D(1)|p.G571D(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GATGAGACCGCCCCCTGGGCT	0.567																																					p.G483D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1448A	19						.						127.0	130.0	129.0					19																	17760388		2058	4206	6264	17621388	SO:0001583	missense	23025	exon13			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		ENST00000519716.2:c.1448G>A	19.37:g.17760388C>T	ENSP00000429562:p.Gly483Asp		17621388	NM_001080421	E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	C	14.56	2.571283	0.45798	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	4.25	4.25	0.50352	.	0.000000	0.85682	U	0.000000	T	0.54498	0.1862	L	0.50333	1.59	0.80722	D	1	B	0.17852	0.024	B	0.16289	0.015	T	0.51268	-0.8727	10	0.19590	T	0.45	-15.4463	14.4629	0.67465	0.0:1.0:0.0:0.0	.	483	Q9UPW8	UN13A_HUMAN	D	483;571;483;483;483;483	ENSP00000429562:G483D;ENSP00000400409:G571D;ENSP00000252773:G483D;ENSP00000447236:G483D;ENSP00000447572:G483D;ENSP00000446831:G483D	ENSP00000252773:G483D	G	-	2	0	UNC13A	17621388	0.998000	0.40836	0.194000	0.23346	0.130000	0.20726	5.746000	0.68681	2.067000	0.61834	0.561000	0.74099	GGC		0.567	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604	
KIAA1683	80726	broad.mit.edu	37	19	18368624	18368624	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:18368624G>T	ENST00000600328.3	-	4	3102	c.2909C>A	c.(2908-2910)gCa>gAa	p.A970E	PDE4C_ENST00000355502.3_5'Flank|KIAA1683_ENST00000600359.3_Missense_Mutation_p.A924E|PDE4C_ENST00000596647.1_5'Flank|KIAA1683_ENST00000392413.4_Missense_Mutation_p.A1157E			Q9H0B3	K1683_HUMAN	KIAA1683	970	IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.A970E(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GCAGAGGTGTGCCAGGTTCCG	0.697																																					p.A970E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2909A	19						.						29.0	32.0	31.0					19																	18368624		2199	4290	6489	18229624	SO:0001583	missense	80726	exon4			AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.2909C>A	19.37:g.18368624G>T	ENSP00000470780:p.Ala970Glu		18229624	NM_025249	B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	ENST00000600328.3	37	CCDS32958.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.096884	0.37048	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634;ENST00000392412;ENST00000411671	T;T;T	0.71817	-0.6;-0.6;-0.6	4.33	-2.85	0.05734	.	0.287481	0.19006	N	0.125204	T	0.37812	0.1017	N	0.17838	0.53	0.09310	N	1	P;B	0.34934	0.476;0.43	B;B	0.33568	0.158;0.166	T	0.47661	-0.9100	10	0.02654	T	1	-3.0405	0.7127	0.00927	0.2023:0.148:0.3284:0.3213	.	1157;970	E9PDE0;Q9H0B3	.;K1683_HUMAN	E	1157;970;924;234;584	ENSP00000376213:A1157E;ENSP00000352774:A970E;ENSP00000404501:A924E	ENSP00000352774:A970E	A	-	2	0	KIAA1683	18229624	0.000000	0.05858	0.001000	0.08648	0.050000	0.14768	-0.405000	0.07196	-0.040000	0.13580	0.313000	0.20887	GCA		0.697	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3		
UBA52	7311	broad.mit.edu	37	19	18685770	18685770	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:18685770T>C	ENST00000442744.2	+	4	339	c.281T>C	c.(280-282)aTg>aCg	p.M94T	UBA52_ENST00000596304.1_Missense_Mutation_p.M94T|UBA52_ENST00000598780.1_Missense_Mutation_p.M94T|UBA52_ENST00000595158.1_Missense_Mutation_p.M94T|UBA52_ENST00000597451.1_Missense_Mutation_p.M94T|UBA52_ENST00000430157.2_Missense_Mutation_p.M94T|UBA52_ENST00000599595.1_Missense_Mutation_p.M94T|UBA52_ENST00000599551.1_Missense_Mutation_p.M94T|CRLF1_ENST00000594325.1_Intron|UBA52_ENST00000596273.1_Missense_Mutation_p.M94T|UBA52_ENST00000595683.1_Missense_Mutation_p.M94T	NM_001033930.1	NP_001029102.1	P62987	RL40_HUMAN	ubiquitin A-52 residue ribosomal protein fusion product 1	94					activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|viral transcription (GO:0019083)|virion assembly (GO:0019068)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)	p.M94T(1)		endometrium(1)|large_intestine(2)	3						TGCGACAAGATGATCTGCCGC	0.612																																					p.M94T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T281C	19						.						46.0	43.0	44.0					19																	18685770		2203	4300	6503	18546770	SO:0001583	missense	7311	exon4				CCDS12382.1	19p13.1-p12	2011-04-06			ENSG00000221983	ENSG00000221983		"""L ribosomal proteins"""	12458	protein-coding gene	gene with protein product	"""ribosomal protein L40"", ""ubiquitin-52 amino acid fusion protein"", ""ubiquitin carboxyl extension protein 52"", ""60S ribosomal protein L40"", ""ubiquitin-CEP52"""	191321				8188300	Standard	XM_005260051		Approved	RPL40, CEP52, HUBCEP52, MGC57125, MGC126879, MGC126881, L40	uc002njs.3	P62987		ENST00000442744.2:c.281T>C	19.37:g.18685770T>C	ENSP00000388107:p.Met94Thr		18546770	NM_001033930	P02248|P02249|P02250|P14793|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000442744.2	37	CCDS12382.1	.	.	.	.	.	.	.	.	.	.	T	14.28	2.487918	0.44249	.	.	ENSG00000221983	ENST00000442744;ENST00000430157	T;T	0.40225	1.04;1.04	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.44329	0.1288	M	0.74546	2.27	0.50313	D	0.999866	B	0.09022	0.002	B	0.11329	0.006	T	0.47262	-0.9131	10	0.66056	D	0.02	-7.1531	11.7658	0.51930	0.0:0.0:0.0:1.0	.	94	P62987	RL40_HUMAN	T	94	ENSP00000388107:M94T;ENSP00000396910:M94T	ENSP00000396910:M94T	M	+	2	0	UBA52	18546770	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.470000	0.60175	1.667000	0.50832	0.379000	0.24179	ATG		0.612	UBA52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465117.2	NM_003333	
DDX49	54555	broad.mit.edu	37	19	19038980	19038980	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:19038980T>C	ENST00000247003.4	+	13	1374	c.1307T>C	c.(1306-1308)aTc>aCc	p.I436T	AC002985.3_ENST00000596918.1_Intron|DDX49_ENST00000438170.2_3'UTR	NM_019070.4	NP_061943.2	Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	436							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.I436T(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			CTGGCCAAGATCAAGCAGAAG	0.667																																					p.I436T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1307C	19						.						30.0	30.0	30.0					19																	19038980		2194	4295	6489	18899980	SO:0001583	missense	54555	exon13				CCDS12390.1	19p12	2008-02-05				ENSG00000105671		"""DEAD-boxes"""	18684	protein-coding gene	gene with protein product							Standard	NM_019070		Approved	FLJ10432	uc002nkq.2	Q9Y6V7		ENST00000247003.4:c.1307T>C	19.37:g.19038980T>C	ENSP00000247003:p.Ile436Thr		18899980	NM_019070	E7ENA0|Q53FJ1|Q9BVQ8	Missense_Mutation	SNP	ENST00000247003.4	37	CCDS12390.1	.	.	.	.	.	.	.	.	.	.	T	13.45	2.240887	0.39598	.	.	ENSG00000105671	ENST00000247003	T	0.61274	0.12	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.49660	0.1570	L	0.55481	1.735	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44682	-0.9312	10	0.11182	T	0.66	-22.2738	13.5212	0.61569	0.0:0.0:0.0:1.0	.	436	Q9Y6V7	DDX49_HUMAN	T	436	ENSP00000247003:I436T	ENSP00000247003:I436T	I	+	2	0	DDX49	18899980	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.166000	0.71896	1.797000	0.52628	0.454000	0.30748	ATC		0.667	DDX49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464593.1	NM_019070	
SUGP2	10147	broad.mit.edu	37	19	19136781	19136781	+	Missense_Mutation	SNP	G	G	A	rs372681526		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:19136781G>A	ENST00000601879.1	-	3	673	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	SUGP2_ENST00000598202.1_5'UTR|SUGP2_ENST00000456085.2_Silent_p.T27T|SUGP2_ENST00000600377.1_Missense_Mutation_p.R140W|SUGP2_ENST00000452918.2_Missense_Mutation_p.R126W|SUGP2_ENST00000337018.6_Missense_Mutation_p.R126W			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	126					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R126W(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CCCAATTTCCGGTGGCCAATG	0.502																																					p.R126W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C376T	19						.	G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	91.0	90.0	90.0		376,376	4.4	1.0	19		90	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SUGP2	NM_001017392.3,NM_014884.3	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	126/1083,126/1083	19136781	1,13005	2203	4300	6503	18997781	SO:0001583	missense	10147	exon3			AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.376C>T	19.37:g.19136781G>A	ENSP00000472286:p.Arg126Trp		18997781	NM_014884	C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Missense_Mutation	SNP	ENST00000601879.1	37	CCDS12392.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.625818	0.66901	0.0	1.16E-4	ENSG00000064607	ENST00000337018;ENST00000330854;ENST00000452918	T;T;T	0.19669	2.13;2.13;2.13	5.45	4.39	0.52855	.	0.231683	0.30800	N	0.008847	T	0.31327	0.0793	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.965;0.993	T	0.03493	-1.1031	10	0.44086	T	0.13	-18.5864	12.492	0.55905	0.0:0.0:0.8325:0.1675	.	126;126	A8K5G0;Q8IX01	.;SUGP2_HUMAN	W	126	ENSP00000337926:R126W;ENSP00000332373:R126W;ENSP00000389380:R126W	ENSP00000332373:R126W	R	-	1	2	SUGP2	18997781	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.131000	0.50515	1.271000	0.44313	0.484000	0.47621	CGG		0.502	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392	
MAU2	23383	broad.mit.edu	37	19	19465227	19465227	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:19465227C>T	ENST00000392313.6	+	17	1791	c.1612C>T	c.(1612-1614)Cag>Tag	p.Q538*	MAU2_ENST00000262815.8_Nonsense_Mutation_p.Q538*	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	538					maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)	p.Q538*(1)		NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						CATGTCGGTACAGCTGTGGTC	0.612																																					p.Q538X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1612T	19						.						122.0	92.0	102.0					19																	19465227		2203	4300	6503	19326227	SO:0001587	stop_gained	23383	exon17			AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"""sister chromatid cohesion 4"""	614560	"""KIAA0892"", ""MAU2 chromatid cohesion factor homolog (C. elegans)"""	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.1612C>T	19.37:g.19465227C>T	ENSP00000376127:p.Gln538*		19326227	NM_015329	Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Nonsense_Mutation	SNP	ENST00000392313.6	37	CCDS32969.2	.	.	.	.	.	.	.	.	.	.	C	37	6.571659	0.97671	.	.	ENSG00000129933	ENST00000392313;ENST00000262815	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	17.9609	0.89085	0.0:1.0:0.0:0.0	.	.	.	.	X	538	.	ENSP00000262815:Q538X	Q	+	1	0	MAU2	19326227	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	7.526000	0.81920	2.605000	0.88082	0.561000	0.74099	CAG		0.612	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316748.6	NM_015329	
NDUFA13	51079	broad.mit.edu	37	19	19625969	19625969	+	5'Flank	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:19625969T>C	ENST00000507754.4	+	0	0				YJEFN3_ENST00000608404.1_5'Flank|NDUFA13_ENST00000428459.2_5'Flank|TSSK6_ENST00000360913.3_Missense_Mutation_p.M90V|TSSK6_ENST00000585580.3_Missense_Mutation_p.M90V|NDUFA13_ENST00000503283.1_5'Flank|CTC-260F20.3_ENST00000555938.1_5'Flank|NDUFA13_ENST00000512771.3_5'Flank|NDUFA13_ENST00000252576.5_5'Flank			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13						apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)	p.M90V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						GCCGCTTCCATCACGATGTAC	0.667																																					p.M90V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A268G	19						.						48.0	46.0	47.0					19																	19625969		2203	4300	6503	19486969	SO:0001631	upstream_gene_variant	83983	exon1			AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"""Mitochondrial respiratory chain complex / Complex I"""	17194	protein-coding gene	gene with protein product	"""complex I B16.6 subunit"""	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211		19.37:g.19625969T>C	Exception_encountered		19486969	NM_032037	B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Missense_Mutation	SNP	ENST00000507754.4	37	CCDS12404.2	.	.	.	.	.	.	.	.	.	.	T	15.38	2.816674	0.50633	.	.	ENSG00000178093	ENST00000360913	T	0.29917	1.55	4.85	4.85	0.62838	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	0.50627	U	0.000115	T	0.54565	0.1866	M	0.80332	2.49	0.44359	D	0.997256	D	0.71674	0.998	D	0.70227	0.968	T	0.60342	-0.7282	10	0.87932	D	0	.	10.8495	0.46761	0.0:0.0:0.0:1.0	.	90	Q9BXA6	TSSK6_HUMAN	V	90	ENSP00000354168:M90V	ENSP00000354168:M90V	M	-	1	0	TSSK6	19486969	1.000000	0.71417	1.000000	0.80357	0.414000	0.31173	2.595000	0.46197	1.825000	0.53177	0.254000	0.18369	ATG		0.667	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6	NM_015965	
MOB3A	126308	broad.mit.edu	37	19	2078328	2078328	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:2078328T>C	ENST00000357066.3	-	3	611	c.232A>G	c.(232-234)Acc>Gcc	p.T78A	MOB3A_ENST00000592143.1_Intron|MOB3A_ENST00000592280.1_Missense_Mutation_p.T78A	NM_130807.2	NP_570719.1	Q96BX8	MOB3A_HUMAN	MOB kinase activator 3A	78						intracellular (GO:0005622)	metal ion binding (GO:0046872)	p.T78A(1)									TCGCTGATGGTGCCGTAGATG	0.637																																					p.T78A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A232G	19						.						83.0	69.0	74.0					19																	2078328		2203	4300	6503	2029328	SO:0001583	missense	126308	exon3			AK095471	CCDS12081.1	19p13.3	2011-09-28	2011-09-28	2011-09-28	ENSG00000172081	ENSG00000172081		"""MOB kinase activators"""	29802	protein-coding gene	gene with protein product	"""MOB LAK"""		"""MOB1, Mps One Binder kinase activator-like 2A (yeast)"""	MOBKL2A		12477932	Standard	NM_130807		Approved	MOB1C, MOB-LAK, moblak	uc002luv.3	Q96BX8		ENST00000357066.3:c.232A>G	19.37:g.2078328T>C	ENSP00000349575:p.Thr78Ala		2029328	NM_130807	B3KTF1|O75249|Q8TF69	Missense_Mutation	SNP	ENST00000357066.3	37	CCDS12081.1	.	.	.	.	.	.	.	.	.	.	T	19.46	3.832234	0.71258	.	.	ENSG00000172081	ENST00000357066	.	.	.	4.41	4.41	0.53225	.	0.104210	0.64402	D	0.000004	T	0.54351	0.1853	M	0.67397	2.05	0.80722	D	1	P	0.35468	0.503	B	0.33196	0.159	T	0.60026	-0.7343	9	0.51188	T	0.08	-42.8695	12.6588	0.56801	0.0:0.0:0.0:1.0	.	78	Q96BX8	MOB3A_HUMAN	A	78	.	ENSP00000349575:T78A	T	-	1	0	MOBKL2A	2029328	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.665000	0.83852	1.865000	0.54081	0.454000	0.30748	ACC		0.637	MOB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450893.1	NM_130807	
LPAR2	9170	broad.mit.edu	37	19	19737408	19737408	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:19737408T>C	ENST00000542587.1	-	5	1588	c.686A>G	c.(685-687)cAc>cGc	p.H229R	LPAR2_ENST00000589311.1_5'Flank|LPAR2_ENST00000586703.1_Missense_Mutation_p.H229R|LPAR2_ENST00000407877.3_Missense_Mutation_p.H229R			Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	229					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of Rho protein signal transduction (GO:0035025)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)	p.H229R(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						GTAGCGGGGGTGGCAGCTGAC	0.622																																					p.H229R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A686G	19						.						64.0	72.0	69.0					19																	19737408		2203	4296	6499	19598408	SO:0001583	missense	9170	exon2			AF011466	CCDS12407.1	19p12	2012-08-08	2008-04-11	2008-04-11		ENSG00000064547		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3168	protein-coding gene	gene with protein product		605110	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 4"""	EDG4		9525886, 9804623	Standard	NM_004720		Approved	EDG-4, LPA2	uc002nnb.4	Q9HBW0		ENST00000542587.1:c.686A>G	19.37:g.19737408T>C	ENSP00000443256:p.His229Arg		19598408	NM_004720	O00543|O43431	Missense_Mutation	SNP	ENST00000542587.1	37	CCDS12407.1	.	.	.	.	.	.	.	.	.	.	T	6.483	0.457366	0.12342	.	.	ENSG00000064547	ENST00000407877;ENST00000542587	T;T	0.36340	1.26;1.26	4.14	3.11	0.35812	GPCR, rhodopsin-like superfamily (1);	0.116092	0.64402	D	0.000012	T	0.26011	0.0634	L	0.33293	1	0.33128	D	0.542687	P	0.39216	0.664	B	0.40329	0.326	T	0.30001	-0.9993	10	0.23302	T	0.38	.	8.0852	0.30769	0.1809:0.0:0.0:0.8191	.	229	Q9HBW0	LPAR2_HUMAN	R	229	ENSP00000384665:H229R;ENSP00000443256:H229R	ENSP00000384665:H229R	H	-	2	0	LPAR2	19598408	1.000000	0.71417	0.996000	0.52242	0.001000	0.01503	1.884000	0.39668	0.623000	0.30267	-0.496000	0.04628	CAC		0.622	LPAR2-003	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460544.1	NM_004720	
ZNF100	163227	broad.mit.edu	37	19	21910492	21910492	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:21910492T>C	ENST00000358296.6	-	5	820	c.622A>G	c.(622-624)Aaa>Gaa	p.K208E	ZNF100_ENST00000305570.6_Missense_Mutation_p.K144E	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	208					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.K208E(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						TCACATTTTTTACATTTGAAA	0.294																																					p.K208E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A622G	19						.						57.0	60.0	59.0					19																	21910492		2050	4220	6270	21702332	SO:0001583	missense	163227	exon5			BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"""Zinc fingers, C2H2-type"", ""-"""	12880	protein-coding gene	gene with protein product		603982	"""zinc finger protein 100 (Y1)"""			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.622A>G	19.37:g.21910492T>C	ENSP00000351042:p.Lys208Glu		21702332	NM_173531	Q7M4M0	Missense_Mutation	SNP	ENST00000358296.6	37	CCDS42538.1	.	.	.	.	.	.	.	.	.	.	.	1.769	-0.484831	0.04352	.	.	ENSG00000197020	ENST00000358296	T	0.18810	2.19	0.832	0.832	0.18867	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10465	0.0256	N	0.04705	-0.18	0.09310	N	1	B;B	0.28128	0.019;0.201	B;B	0.37346	0.044;0.247	T	0.36311	-0.9753	9	0.40728	T	0.16	.	1.8607	0.03188	0.2944:0.0:0.2944:0.4112	.	208;262	Q8IYN0;Q4G131	ZN100_HUMAN;.	E	208	ENSP00000351042:K208E	ENSP00000351042:K208E	K	-	1	0	ZNF100	21702332	0.000000	0.05858	0.144000	0.22314	0.238000	0.25445	-2.898000	0.00705	0.148000	0.19059	0.147000	0.16070	AAA		0.294	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1	NM_173531	
MIER2	54531	broad.mit.edu	37	19	327962	327962	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:327962G>A	ENST00000264819.4	-	4	281	c.271C>T	c.(271-273)Ctt>Ttt	p.L91F	MIER2_ENST00000592722.1_5'UTR	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	91					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.L91F(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TAGAGCGCAAGCAGCTCATCA	0.602																																					p.L91F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C271T	19						.						98.0	75.0	83.0					19																	327962		2203	4300	6503	278962	SO:0001583	missense	54531	exon4			AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"""KIAA1193"""	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.271C>T	19.37:g.327962G>A	ENSP00000264819:p.Leu91Phe		278962	NM_017550	Q9ULM7	Missense_Mutation	SNP	ENST00000264819.4	37	CCDS32855.1	.	.	.	.	.	.	.	.	.	.	.	14.42	2.529200	0.44969	.	.	ENSG00000105556	ENST00000264819	T	0.28454	1.61	5.01	2.89	0.33648	.	0.000000	0.38217	N	0.001765	T	0.33614	0.0869	M	0.78637	2.42	0.49582	D	0.999801	B	0.27625	0.183	B	0.27796	0.083	T	0.18429	-1.0337	10	0.87932	D	0	-12.7818	8.7713	0.34733	0.1731:0.0:0.8269:0.0	.	91	Q8N344	MIER2_HUMAN	F	91	ENSP00000264819:L91F	ENSP00000264819:L91F	L	-	1	0	MIER2	278962	1.000000	0.71417	0.923000	0.36655	0.864000	0.49448	2.885000	0.48570	0.530000	0.28619	0.563000	0.77884	CTT		0.602	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451784.1	XM_041843	
ZNF555	148254	broad.mit.edu	37	19	2852846	2852846	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:2852846T>A	ENST00000334241.4	+	4	921	c.783T>A	c.(781-783)tgT>tgA	p.C261*	ZNF555_ENST00000591539.1_Nonsense_Mutation_p.C260*|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	261					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.C261*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTAAGGAATGTGGGAAAGCTT	0.413																																					p.C260X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T780A	19						.						69.0	62.0	64.0					19																	2852846		2203	4300	6503	2803846	SO:0001587	stop_gained	148254	exon4			AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300		"""Zinc fingers, C2H2-type"", ""-"""	28382	protein-coding gene	gene with protein product						12477932	Standard	NM_152791		Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000334241.4:c.783T>A	19.37:g.2852846T>A	ENSP00000334853:p.Cys261*		2803846	NM_001172775	A8KA89|K7EQM2|Q8NA46|Q96MP1	Nonsense_Mutation	SNP	ENST00000334241.4	37	CCDS12096.1	.	.	.	.	.	.	.	.	.	.	T	37	6.156235	0.97334	.	.	ENSG00000186300	ENST00000334241;ENST00000382127	.	.	.	3.06	2.03	0.26663	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.5568	0.22464	0.0:0.1271:0.0:0.8729	.	.	.	.	X	261;260	.	ENSP00000334853:C261X	C	+	3	2	ZNF555	2803846	0.996000	0.38824	0.993000	0.49108	0.971000	0.66376	0.240000	0.18042	0.380000	0.24823	-0.411000	0.06167	TGT		0.413	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451637.3	NM_152791	
ZNF99	7652	broad.mit.edu	37	19	22939897	22939897	+	IGR	SNP	T	T	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:22939897T>A	ENST00000596209.1	-	0	2686				ZNF99_ENST00000397104.3_Missense_Mutation_p.N812Y|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						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.N812Y(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)				GAGGAATTGTTAAAAGCTTTT	0.393																																					p.N812Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2434T	19						.						91.0	106.0	101.0					19																	22939897		2113	4257	6370	22731737	SO:0001628	intergenic_variant	7652	exon6			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			19.37:g.22939897T>A			22731737	NM_001080409	M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	t	6.729	0.503348	0.12822	.	.	ENSG00000213973	ENST00000397104	T	0.07327	3.2	1.14	1.14	0.20703	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06005	0.0156	N	0.25426	0.745	0.23624	N	0.99726	B	0.20671	0.047	B	0.10450	0.005	T	0.36138	-0.9760	9	0.42905	T	0.14	.	7.2366	0.26074	0.0:0.0:0.0:1.0	.	812	A8MXY4	ZNF99_HUMAN	Y	812	ENSP00000380293:N812Y	ENSP00000380293:N812Y	N	-	1	0	ZNF99	22731737	0.000000	0.05858	0.005000	0.12908	0.195000	0.23768	0.231000	0.17872	0.491000	0.27793	0.145000	0.16022	AAC		0.393	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124	
ZNF536	9745	broad.mit.edu	37	19	30935040	30935040	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:30935040C>T	ENST00000355537.3	+	2	718	c.571C>T	c.(571-573)Cgt>Tgt	p.R191C		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	191					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.R191S(1)|p.R191C(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGGGCGTGGGCGTGTGCGCGA	0.677																																					p.R191C												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C571T	19						.						20.0	15.0	17.0					19																	30935040		2199	4296	6495	35626880	SO:0001583	missense	9745	exon2				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.571C>T	19.37:g.30935040C>T	ENSP00000347730:p.Arg191Cys		35626880	NM_014717	A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.268796	0.23136	.	.	ENSG00000198597	ENST00000355537	T	0.10668	2.85	5.94	3.64	0.41730	.	0.000000	0.85682	D	0.000000	T	0.21962	0.0529	L	0.36672	1.1	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.87578	0.993;0.998	T	0.01492	-1.1341	10	0.36615	T	0.2	-30.7694	13.9486	0.64101	0.4178:0.5822:0.0:0.0	.	191;191	A7E228;O15090	.;ZN536_HUMAN	C	191	ENSP00000347730:R191C	ENSP00000347730:R191C	R	+	1	0	ZNF536	35626880	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	2.143000	0.42187	1.514000	0.48869	0.561000	0.74099	CGT		0.677	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717	
SLC7A10	56301	broad.mit.edu	37	19	33702390	33702390	+	Missense_Mutation	SNP	G	G	A	rs146695125		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:33702390G>A	ENST00000253188.4	-	6	988	c.842C>T	c.(841-843)aCg>aTg	p.T281M		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	281					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|D-alanine transport (GO:0042941)|D-serine transport (GO:0042942)|ion transport (GO:0006811)|L-serine transport (GO:0015825)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)	p.T281M(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					GTTGGTGAACGTGTACACGAA	0.617																																					p.T281M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C842T	19						.	G	MET/THR	0,4406		0,0,2203	180.0	118.0	139.0		842	5.5	1.0	19	dbSNP_134	139	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC7A10	NM_019849.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	281/524	33702390	1,13005	2203	4300	6503	38394230	SO:0001583	missense	56301	exon6			AB037670	CCDS12431.1	19q13.11	2013-05-28	2011-07-12		ENSG00000130876	ENSG00000130876		"""Solute carriers"""	11058	protein-coding gene	gene with protein product		607959				10734121, 10863037	Standard	NM_019849		Approved	asc-1	uc002num.2	Q9NS82	OTTHUMG00000180344	ENST00000253188.4:c.842C>T	19.37:g.33702390G>A	ENSP00000253188:p.Thr281Met		38394230	NM_019849	B2RE84	Missense_Mutation	SNP	ENST00000253188.4	37	CCDS12431.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.062601	0.76187	0.0	1.16E-4	ENSG00000130876	ENST00000253188	D	0.90069	-2.61	5.51	5.51	0.81932	Amino acid permease domain (1);	0.047201	0.85682	D	0.000000	D	0.90546	0.7037	N	0.21583	0.68	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.90296	0.4326	10	0.39692	T	0.17	.	18.3844	0.90462	0.0:0.0:1.0:0.0	.	281	Q9NS82	AAA1_HUMAN	M	281	ENSP00000253188:T281M	ENSP00000253188:T281M	T	-	2	0	SLC7A10	38394230	1.000000	0.71417	0.959000	0.39883	0.749000	0.42624	5.395000	0.66291	2.604000	0.88044	0.591000	0.81541	ACG		0.617	SLC7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450846.2	NM_019849	
KIAA0355	9710	broad.mit.edu	37	19	34818746	34818746	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:34818746C>T	ENST00000299505.6	+	5	1790	c.917C>T	c.(916-918)cCa>cTa	p.P306L		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	306								p.P306L(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CACCTGAATCCAAAGGCGATT	0.428																																					p.P306L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C917T	19						.						88.0	94.0	92.0					19																	34818746		2203	4300	6503	39510586	SO:0001583	missense	9710	exon5				CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.917C>T	19.37:g.34818746C>T	ENSP00000299505:p.Pro306Leu		39510586	NM_014686	Q2M3W4	Missense_Mutation	SNP	ENST00000299505.6	37	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	C	32	5.107812	0.94292	.	.	ENSG00000166398	ENST00000299505;ENST00000543188	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.72676	0.3490	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75399	-0.3331	9	0.87932	D	0	-5.7361	19.3067	0.94165	0.0:1.0:0.0:0.0	.	306	O15063	K0355_HUMAN	L	306;9	.	ENSP00000299505:P306L	P	+	2	0	KIAA0355	39510586	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.430000	0.80321	2.580000	0.87095	0.544000	0.68410	CCA		0.428	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686	
UBA2	10054	broad.mit.edu	37	19	34957800	34957800	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:34957800A>T	ENST00000246548.4	+	16	1692	c.1622A>T	c.(1621-1623)gAc>gTc	p.D541V	UBA2_ENST00000439527.2_Missense_Mutation_p.D445V|UBA2_ENST00000592791.1_Missense_Mutation_p.D67V	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	541					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)	p.D541V(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CTAGGAAAGGACGTTGAATTT	0.458																																					p.D541V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1622T	19						.						75.0	73.0	74.0					19																	34957800		2203	4300	6503	39649640	SO:0001583	missense	10054	exon16			BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"""Ubiquitin-like modifier activating enzymes"""	30661	protein-coding gene	gene with protein product	"""UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"""	613295	"""SUMO1 activating enzyme subunit 2"""	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.1622A>T	19.37:g.34957800A>T	ENSP00000246548:p.Asp541Val		39649640	NM_005499	B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Missense_Mutation	SNP	ENST00000246548.4	37	CCDS12439.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.637959	0.87760	.	.	ENSG00000126261	ENST00000246548;ENST00000439527	T;T	0.61392	0.11;1.27	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.72260	0.3438	M	0.77103	2.36	0.80722	D	1	D	0.55605	0.972	P	0.56751	0.805	T	0.76647	-0.2882	10	0.72032	D	0.01	-19.6184	14.8649	0.70406	1.0:0.0:0.0:0.0	.	541	Q9UBT2	SAE2_HUMAN	V	541;445	ENSP00000246548:D541V;ENSP00000437484:D445V	ENSP00000246548:D541V	D	+	2	0	UBA2	39649640	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.479000	0.90431	2.213000	0.71641	0.455000	0.32223	GAC		0.458	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	NM_005499	
USF2	7392	broad.mit.edu	37	19	35769620	35769620	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:35769620C>A	ENST00000222305.3	+	8	784	c.747C>A	c.(745-747)gaC>gaA	p.D249E	USF2_ENST00000595068.1_Missense_Mutation_p.D249E|USF2_ENST00000600341.1_3'UTR|USF2_ENST00000379134.3_Missense_Mutation_p.D118E|HAMP_ENST00000598398.1_5'Flank|USF2_ENST00000594064.1_Missense_Mutation_p.D247E|USF2_ENST00000343550.5_Missense_Mutation_p.D182E	NM_003367.2	NP_003358.1	Q15853	USF2_HUMAN	upstream transcription factor 2, c-fos interacting	249	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				lactation (GO:0007595)|late viral transcription (GO:0019086)|lipid homeostasis (GO:0055088)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|regulation of transcription from RNA polymerase II promoter by glucose (GO:0000430)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|double-stranded DNA binding (GO:0003690)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D249E(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1)	13	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGCGGAGGGACAAGATCAACA	0.597																																					p.D249E	NSCLC(103;173 2832 8890)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C747A	19						.						201.0	194.0	196.0					19																	35769620		2203	4300	6503	40461460	SO:0001583	missense	7392	exon8			AY007087	CCDS12452.1, CCDS12453.1	19q13	2013-05-21				ENSG00000105698		"""Basic helix-loop-helix proteins"""	12594	protein-coding gene	gene with protein product		600390				8954795	Standard	NM_003367		Approved	FIP, bHLHb12	uc002nyq.1	Q15853		ENST00000222305.3:c.747C>A	19.37:g.35769620C>A	ENSP00000222305:p.Asp249Glu		40461460	NM_003367	O00671|O00709|Q05750|Q07952|Q15851|Q15852|Q6FI33|Q6YI47	Missense_Mutation	SNP	ENST00000222305.3	37	CCDS12452.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796474	0.90453	.	.	ENSG00000105698	ENST00000222305;ENST00000343550;ENST00000379134	D;D;D	0.98090	-4.71;-4.71;-4.71	5.44	3.35	0.38373	Helix-loop-helix DNA-binding (5);	0.059258	0.64402	D	0.000003	D	0.97651	0.9230	L	0.49455	1.56	0.54753	D	0.999987	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.993;0.986	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.98;0.985	D	0.97010	0.9735	10	0.56958	D	0.05	.	9.8164	0.40856	0.0:0.8358:0.0:0.1642	.	247;249;118;182;249	B4DLJ1;Q15853-2;Q6YI47;Q15853-3;Q15853	.;.;.;.;USF2_HUMAN	E	249;182;118	ENSP00000222305:D249E;ENSP00000340633:D182E;ENSP00000368429:D118E	ENSP00000222305:D249E	D	+	3	2	USF2	40461460	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.671000	0.54576	0.875000	0.35847	0.655000	0.94253	GAC		0.597	USF2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466056.1	NM_003367	
UPK1A	11045	broad.mit.edu	37	19	36159535	36159535	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:36159535C>T	ENST00000222275.2	+	2	264	c.264C>T	c.(262-264)cgC>cgT	p.R88R	UPK1A-AS1_ENST00000443196.1_RNA|UPK1A_ENST00000379013.2_Silent_p.R88R	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	88					epithelial cell differentiation (GO:0030855)|protein oligomerization (GO:0051259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	monosaccharide binding (GO:0048029)|protein homodimerization activity (GO:0042803)	p.R88R(1)		breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CACTCTGCCGCCGCCGGTCCA	0.592																																					p.R88R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C264T	19						.						57.0	43.0	48.0					19																	36159535		2203	4300	6503	40851375	SO:0001819	synonymous_variant	11045	exon2			AF085807	CCDS12470.1, CCDS62640.1	19q13.1	2013-02-14			ENSG00000105668	ENSG00000105668		"""Tetraspanins"""	12577	protein-coding gene	gene with protein product		611557				9846985, 10404304	Standard	NM_007000		Approved	TSPAN21	uc002oaw.3	O00322	OTTHUMG00000048115	ENST00000222275.2:c.264C>T	19.37:g.36159535C>T			40851375	NM_007000	Q3KNU5|Q3KNU6	Silent	SNP	ENST00000222275.2	37	CCDS12470.1																																																																																				0.592	UPK1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109486.3		
KMT2B	9757	broad.mit.edu	37	19	36210919	36210919	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:36210919C>T	ENST00000222270.7	+	3	670	c.670C>T	c.(670-672)Cca>Tca	p.P224S	KMT2B_ENST00000341701.1_Missense_Mutation_p.P224S|KMT2B_ENST00000420124.1_Missense_Mutation_p.P224S|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	224					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.P224S(1)									GGGACGGCCCCCAGGACGGCC	0.692																																					p.P224S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C670T	19						.						22.0	31.0	28.0					19																	36210919		2015	4172	6187	40902759	SO:0001583	missense	9757	exon3			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.670C>T	19.37:g.36210919C>T	ENSP00000222270:p.Pro224Ser		40902759	NM_014727	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.448335	0.63178	.	.	ENSG00000105663	ENST00000222270;ENST00000420124;ENST00000341701	D;D;T	0.84370	-1.84;-1.84;0.7	5.26	4.23	0.50019	AT hook, DNA-binding motif (1);	0.000000	0.41500	D	0.000878	T	0.72835	0.3510	N	0.14661	0.345	0.30399	N	0.780171	B	0.02656	0.0	B	0.06405	0.002	T	0.70710	-0.4797	10	0.72032	D	0.01	.	10.2742	0.43499	0.0:0.9074:0.0:0.0926	.	224	Q9UMN6	MLL4_HUMAN	S	224	ENSP00000222270:P224S;ENSP00000398837:P224S;ENSP00000345761:P224S	ENSP00000222270:P224S	P	+	1	0	AD000671.1	40902759	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.196000	0.42686	1.360000	0.45960	0.561000	0.74099	CCA		0.692	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727	
KIRREL2	84063	broad.mit.edu	37	19	36352858	36352858	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:36352858G>T	ENST00000360202.5	+	11	1640	c.1442G>T	c.(1441-1443)aGg>aTg	p.R481M	KIRREL2_ENST00000592409.1_Missense_Mutation_p.R481M|KIRREL2_ENST00000347900.6_Missense_Mutation_p.R431M|KIRREL2_ENST00000262625.7_Missense_Mutation_p.R481M|NPHS1_ENST00000591817.1_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	481	Ig-like C2-type 5.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)		p.R481M(2)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GACTTTAGCAGGAGCTTTAAC	0.647																																					p.R481M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1442T	19						.						35.0	38.0	37.0					19																	36352858		2203	4300	6503	41044698	SO:0001583	missense	84063	exon11			AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.1442G>T	19.37:g.36352858G>T	ENSP00000353331:p.Arg481Met		41044698	NM_199180	C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.939358	0.34189	.	.	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202;ENST00000341658	T;T;T	0.14022	2.54;2.54;2.54	4.95	0.146	0.14833	Immunoglobulin-like (1);	0.490760	0.17024	N	0.189993	T	0.13114	0.0318	L	0.29908	0.895	0.09310	N	1	P;P;P;D;P	0.59767	0.8;0.874;0.8;0.986;0.925	P;P;P;P;P	0.53593	0.541;0.639;0.541;0.73;0.73	T	0.11792	-1.0573	10	0.59425	D	0.04	-3.7484	3.6587	0.08230	0.3552:0.2013:0.4435:0.0	.	481;461;481;431;481	F1T0I2;Q6UWL6-4;Q6UWL6;Q6UWL6-3;Q6UWL6-2	.;.;KIRR2_HUMAN;.;.	M	481;431;481;461	ENSP00000262625:R481M;ENSP00000345067:R431M;ENSP00000353331:R481M	ENSP00000262625:R481M	R	+	2	0	KIRREL2	41044698	0.001000	0.12720	0.001000	0.08648	0.191000	0.23601	1.117000	0.31234	0.087000	0.17167	0.555000	0.69702	AGG		0.647	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123	
CLIP3	25999	broad.mit.edu	37	19	36510166	36510166	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:36510166C>T	ENST00000360535.4	-	8	1188	c.961G>A	c.(961-963)Ggc>Agc	p.G321S	CLIP3_ENST00000593074.1_Missense_Mutation_p.G321S|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	321	CAP-Gly 1. {ECO:0000255|PROSITE- ProRule:PRU00045}.				chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)	p.G321S(1)		cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACCCACTGGCCGCTGGCAAAC	0.627																																					p.G321S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G961A	19						.						70.0	54.0	59.0					19																	36510166		2203	4300	6503	41202006	SO:0001583	missense	25999	exon7			AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"""Ankyrin repeat domain containing"""	24314	protein-coding gene	gene with protein product	"""CLIP-170-related"", ""restin-like 1"""	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.961G>A	19.37:g.36510166C>T	ENSP00000353732:p.Gly321Ser		41202006	NM_001199570	A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Missense_Mutation	SNP	ENST00000360535.4	37	CCDS12486.1	.	.	.	.	.	.	.	.	.	.	c	35	5.516866	0.96416	.	.	ENSG00000105270	ENST00000360535;ENST00000544037;ENST00000534959	T	0.81247	-1.47	5.25	5.25	0.73442	Cytoskeleton-associated protein, Gly-rich domain (4);Cytoskeleton-associated protein, Gly-rich conserved site (1);	0.000000	0.85682	D	0.000000	D	0.89469	0.6724	M	0.80422	2.495	0.80722	D	1	D	0.76494	0.999	D	0.67103	0.949	D	0.90866	0.4742	10	0.87932	D	0	-24.543	16.3465	0.83134	0.0:1.0:0.0:0.0	.	321	Q96DZ5	CLIP3_HUMAN	S	321;203;297	ENSP00000353732:G321S	ENSP00000353732:G321S	G	-	1	0	CLIP3	41202006	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.657000	0.83745	2.478000	0.83669	0.580000	0.79431	GGC		0.627	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	NM_015526	
COX7A1	1346	broad.mit.edu	37	19	36642390	36642390	+	Missense_Mutation	SNP	C	C	T	rs150190766		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:36642390C>T	ENST00000292907.3	-	3	622	c.161G>A	c.(160-162)cGa>cAa	p.R54Q	COX7A1_ENST00000437291.2_5'UTR	NM_001864.2	NP_001855.1	P24310	CX7A1_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)	54					generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)	integral component of membrane (GO:0016021)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)	p.R54Q(1)		endometrium(2)|large_intestine(1)	3	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CATTGTCACTCGGTACAGGAT	0.622													C|||	1	0.000199681	0.0	0.0014	5008	,	,		13418	0.0		0.0	False		,,,				2504	0.0				p.R54Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G161A	19						.	C	GLN/ARG	0,4406		0,0,2203	194.0	148.0	163.0		161	1.8	0.3	19	dbSNP_134	163	2,8598	2.2+/-6.3	0,2,4298	yes	missense	COX7A1	NM_001864.2	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	54/80	36642390	2,13004	2203	4300	6503	41334230	SO:0001583	missense	1346	exon3			BC002757	CCDS12490.1	19q13.1	2011-07-04			ENSG00000161281	ENSG00000161281	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2287	protein-coding gene	gene with protein product		123995		COX7A		1327965, 2550906	Standard	NM_001864		Approved	COX7AH	uc002odm.1	P24310	OTTHUMG00000048144	ENST00000292907.3:c.161G>A	19.37:g.36642390C>T	ENSP00000292907:p.Arg54Gln		41334230	NM_001864		Missense_Mutation	SNP	ENST00000292907.3	37	CCDS12490.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	c|c	15.05|15.05	2.717030|2.717030	0.48622|0.48622	0.0|0.0	2.33E-4|2.33E-4	ENSG00000161281|ENSG00000161281	ENST00000437291|ENST00000292907	.|T	.|0.55930	.|0.49	5.22|5.22	1.79|1.79	0.24919|0.24919	.|.	.|0.120656	.|0.40144	.|N	.|0.001163	T|T	0.32315|0.32315	0.0825|0.0825	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999997|0.999997	.|B	.|0.34226	.|0.443	.|B	.|0.25291	.|0.059	T|T	0.19192|0.19192	-1.0313|-1.0313	4|9	.|0.54805	.|T	.|0.06	-5.1462|-5.1462	5.1018|5.1018	0.14764|0.14764	0.1635:0.6552:0.0:0.1813|0.1635:0.6552:0.0:0.1813	.|.	.|54	.|P24310	.|CX7A1_HUMAN	K|Q	84|54	.|ENSP00000292907:R54Q	.|ENSP00000292907:R54Q	E|R	-|-	1|2	0|0	COX7A1|COX7A1	41334230|41334230	0.720000|0.720000	0.27996|0.27996	0.299000|0.299000	0.25016|0.25016	0.007000|0.007000	0.05969|0.05969	1.016000|1.016000	0.29976|0.29976	0.556000|0.556000	0.29098|0.29098	-0.153000|-0.153000	0.13522|0.13522	GAG|CGA		0.622	COX7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109545.2	NM_001864	
ZNF420	147923	broad.mit.edu	37	19	37619590	37619590	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:37619590A>C	ENST00000337995.3	+	5	1912	c.1697A>C	c.(1696-1698)aAa>aCa	p.K566T	ZNF420_ENST00000586540.1_3'UTR|ZNF585A_ENST00000588723.1_Intron|CTC-454I21.4_ENST00000587645.1_RNA|ZNF420_ENST00000304239.7_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	566					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K566T(1)		breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAATGTGGGAAAGCCTTTATT	0.428																																					p.K566T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1697C	19						.						98.0	91.0	93.0					19																	37619590		2203	4300	6503	42311430	SO:0001583	missense	147923	exon5			AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"""Zinc fingers, C2H2-type"", ""-"""	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.1697A>C	19.37:g.37619590A>C	ENSP00000338770:p.Lys566Thr		42311430	NM_144689	B2RDY6|Q96ML5	Missense_Mutation	SNP	ENST00000337995.3	37	CCDS12498.1	.	.	.	.	.	.	.	.	.	.	A	16.80	3.223972	0.58668	.	.	ENSG00000197050	ENST00000337995	T	0.27890	1.64	4.35	3.32	0.38043	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.52980	0.1768	M	0.84219	2.685	0.80722	D	1	D	0.69078	0.997	D	0.67725	0.953	T	0.53933	-0.8368	8	.	.	.	.	9.4999	0.39011	0.842:0.0:0.0:0.158	.	566	Q8TAQ5	ZN420_HUMAN	T	566	ENSP00000338770:K566T	.	K	+	2	0	ZNF420	42311430	0.995000	0.38212	0.897000	0.35233	0.991000	0.79684	4.733000	0.62036	0.675000	0.31264	0.533000	0.62120	AAA		0.428	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	NM_144689	
ZNF585A	199704	broad.mit.edu	37	19	37642910	37642910	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:37642910C>G	ENST00000356958.4	-	5	2149	c.1891G>C	c.(1891-1893)Gag>Cag	p.E631Q	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.E576Q|ZNF585A_ENST00000292841.5_Missense_Mutation_p.E576Q			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	631					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E576Q(1)		breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAGGGTTTCTCTCCTGTGTGA	0.488																																					p.E576Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1726C	19						.						44.0	42.0	43.0					19																	37642910		2203	4300	6503	42334750	SO:0001583	missense	199704	exon6			AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.1891G>C	19.37:g.37642910C>G	ENSP00000349440:p.Glu631Gln		42334750	NM_199126	Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37		.	.	.	.	.	.	.	.	.	.	C	15.59	2.879233	0.51801	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157	T;T;T	0.25912	1.77;1.77;1.77	3.21	0.924	0.19418	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.205916	0.24107	N	0.041499	T	0.18215	0.0437	.	.	.	0.80722	D	1	B	0.32350	0.366	B	0.29353	0.101	T	0.04565	-1.0942	9	0.66056	D	0.02	.	7.0992	0.25327	0.0:0.7205:0.1741:0.1054	.	631	Q6P3V2	Z585A_HUMAN	Q	631;576;576	ENSP00000349440:E631Q;ENSP00000292841:E576Q;ENSP00000375998:E576Q	ENSP00000292841:E576Q	E	-	1	0	ZNF585A	42334750	0.998000	0.40836	0.135000	0.22099	0.982000	0.71751	2.605000	0.46283	0.171000	0.19730	0.655000	0.94253	GAG		0.488	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655	
ZNF585B	92285	broad.mit.edu	37	19	37676732	37676732	+	Missense_Mutation	SNP	C	C	A	rs577590363		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:37676732C>A	ENST00000532828.2	-	5	1958	c.1707G>T	c.(1705-1707)caG>caT	p.Q569H	ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_Missense_Mutation_p.Q157H|ZNF585B_ENST00000531805.1_Missense_Mutation_p.Q514H|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	569					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q569H(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TATGAATTTTCTGATGAACAA	0.378																																					p.Q569H	Melanoma(93;882 1454 18863 28917 48427)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1707T	19						.						33.0	35.0	34.0					19																	37676732		2186	4277	6463	42368572	SO:0001583	missense	92285	exon5			AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.1707G>T	19.37:g.37676732C>A	ENSP00000433773:p.Gln569His		42368572	NM_152279	Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	T	11.63	1.694656	0.30052	.	.	ENSG00000245680	ENST00000531805;ENST00000532828;ENST00000312908	T;T;T	0.42513	3.18;3.18;0.97	2.75	0.479	0.16796	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.225921	0.22598	N	0.057998	T	0.42539	0.1207	M	0.68317	2.08	0.29443	N	0.859025	D;D	0.59767	0.969;0.986	B;P	0.49528	0.408;0.614	T	0.40175	-0.9577	10	0.44086	T	0.13	.	6.0861	0.19968	0.0:0.6277:0.0:0.3723	.	514;569	E9PQH3;Q52M93	.;Z585B_HUMAN	H	514;569;157	ENSP00000436774:Q514H;ENSP00000433773:Q569H;ENSP00000442139:Q157H	ENSP00000442139:Q157H	Q	-	3	2	ZNF585B	42368572	0.000000	0.05858	0.896000	0.35187	0.725000	0.41563	-0.720000	0.04969	0.066000	0.16515	-0.706000	0.03657	CAG		0.378	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279	
TMIGD2	126259	broad.mit.edu	37	19	4298206	4298206	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:4298206C>A	ENST00000301272.2	-	2	228	c.183G>T	c.(181-183)aaG>aaT	p.K61N	TMIGD2_ENST00000600114.1_Intron|TMIGD2_ENST00000595645.1_Missense_Mutation_p.K61N|TMIGD2_ENST00000600349.1_Intron	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	61	Ig-like.				positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)	p.K61N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCCCCATCCTTTGTCCACT	0.662																																					p.K61N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G183T	19						.						48.0	43.0	45.0					19																	4298206		2203	4300	6503	4249206	SO:0001583	missense	126259	exon2			BC015655	CCDS12126.1, CCDS59334.1	19p13.3	2014-02-12	2006-07-05					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28324	protein-coding gene	gene with protein product		614715					Standard	NM_144615		Approved	MGC23244	uc002lzx.2	Q96BF3		ENST00000301272.2:c.183G>T	19.37:g.4298206C>A	ENSP00000301272:p.Lys61Asn		4249206	NM_001169126	Q6UW59	Missense_Mutation	SNP	ENST00000301272.2	37	CCDS12126.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658054	0.47467	.	.	ENSG00000167664	ENST00000301272	T	0.18960	2.18	4.09	1.96	0.26148	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.29355	0.0731	L	0.32530	0.975	0.09310	N	1	D;D	0.89917	0.999;1.0	D;D	0.72982	0.964;0.979	T	0.07986	-1.0744	9	0.56958	D	0.05	.	5.6383	0.17548	0.0:0.7428:0.0:0.2572	.	61;61	Q96BF3-2;Q96BF3	.;TMIG2_HUMAN	N	61	ENSP00000301272:K61N	ENSP00000301272:K61N	K	-	3	2	TMIGD2	4249206	0.787000	0.28750	0.029000	0.17559	0.035000	0.12851	0.900000	0.28431	0.385000	0.24970	0.484000	0.47621	AAG		0.662	TMIGD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458088.1	NM_144615	
ZNF383	163087	broad.mit.edu	37	19	37733804	37733804	+	Silent	SNP	C	C	T	rs202009832		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:37733804C>T	ENST00000589413.1	+	8	1249	c.666C>T	c.(664-666)ggC>ggT	p.G222G	ZNF383_ENST00000352998.3_Silent_p.G222G|ZNF383_ENST00000590503.1_Silent_p.G222G			Q8NA42	ZN383_HUMAN	zinc finger protein 383	222					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G222G(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCATACTGGCGAAAAACCCT	0.373																																					p.G222G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C666T	19						.						60.0	62.0	61.0					19																	37733804		2203	4300	6503	42425644	SO:0001819	synonymous_variant	163087	exon5			AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283		"""Zinc fingers, C2H2-type"", ""-"""	18609	protein-coding gene	gene with protein product							Standard	NM_152604		Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.666C>T	19.37:g.37733804C>T			42425644	NM_152604	Q6X2C7	Silent	SNP	ENST00000589413.1	37	CCDS12501.1																																																																																				0.373	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458141.1	NM_152604	
HKR1	284459	broad.mit.edu	37	19	37853314	37853314	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:37853314C>T	ENST00000324411.4	+	6	886	c.617C>T	c.(616-618)gCa>gTa	p.A206V	HKR1_ENST00000591134.1_Intron|HKR1_ENST00000392153.3_Missense_Mutation_p.A187V|HKR1_ENST00000541583.2_Missense_Mutation_p.A145V|HKR1_ENST00000591471.1_5'UTR|HKR1_ENST00000589392.1_Missense_Mutation_p.A188V|HKR1_ENST00000544914.1_5'UTR	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	206					multicellular organismal development (GO:0007275)|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.A206V(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAACAGCCAGCACAGTCCAAG	0.488																																					p.A206V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C617T	19						.						65.0	62.0	63.0					19																	37853314		2203	4300	6503	42545154	SO:0001583	missense	284459	exon6			M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"""Zinc fingers, C2H2-type"", ""-"""	4928	protein-coding gene	gene with protein product	"""oncogene HKR1"""	165250	"""GLI-Kruppel family member HKR1"""			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.617C>T	19.37:g.37853314C>T	ENSP00000315505:p.Ala206Val		42545154	NM_181786	A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Missense_Mutation	SNP	ENST00000324411.4	37	CCDS12502.1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.435139	0.01108	.	.	ENSG00000181666	ENST00000414402;ENST00000392153;ENST00000542144;ENST00000324411;ENST00000541583	T;T;T	0.05649	3.54;3.49;3.41	2.71	0.575	0.17374	.	.	.	.	.	T	0.02494	0.0076	N	0.04508	-0.205	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.0;0.003;0.0;0.0	T	0.48681	-0.9014	9	0.16896	T	0.51	-1.1787	4.447	0.11602	0.0:0.3355:0.0:0.6645	.	145;187;206;188	Q7Z6E1;P10072-2;P10072;B4DSY3	.;.;HKR1_HUMAN;.	V	145;187;242;206;145	ENSP00000375994:A187V;ENSP00000315505:A206V;ENSP00000438261:A145V	ENSP00000315505:A206V	A	+	2	0	HKR1	42545154	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	0.144000	0.16135	0.055000	0.16094	-0.312000	0.09012	GCA		0.488	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458375.1	NM_181786	
ZNF571	51276	broad.mit.edu	37	19	38056651	38056651	+	Missense_Mutation	SNP	C	C	T	rs115491718	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:38056651C>T	ENST00000328550.2	-	4	778	c.679G>A	c.(679-681)Gca>Aca	p.A227T	ZNF571_ENST00000451802.2_Missense_Mutation_p.A227T|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.A227T|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.A227T|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	227					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A227T(1)		breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCCCACATGCGTTACACTGA	0.383													C|||	5	0.000998403	0.003	0.0	5008	,	,		20874	0.0		0.0	False		,,,				2504	0.001				p.A227T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G679A	19						.	C	THR/ALA	11,4395	16.8+/-37.8	0,11,2192	84.0	80.0	82.0		679	1.4	0.0	19	dbSNP_132	82	0,8598		0,0,4299	yes	missense	ZNF571	NM_016536.3	58	0,11,6491	TT,TC,CC		0.0,0.2497,0.0846	possibly-damaging	227/610	38056651	11,12993	2203	4299	6502	42748491	SO:0001583	missense	51276	exon4			AF161544	CCDS12505.1	19q13.12	2013-09-20			ENSG00000180479	ENSG00000180479		"""Zinc fingers, C2H2-type"", ""-"""	25000	protein-coding gene	gene with protein product						11042152	Standard	XM_005258977		Approved	HSPC059	uc002ogt.3	Q7Z3V5	OTTHUMG00000182016	ENST00000328550.2:c.679G>A	19.37:g.38056651C>T	ENSP00000333660:p.Ala227Thr		42748491	NM_016536	Q2HIY0|Q3ZCU3|Q9NZX7	Missense_Mutation	SNP	ENST00000328550.2	37	CCDS12505.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	14.26	2.482662	0.44147	0.002497	0.0	ENSG00000180479	ENST00000328550;ENST00000451802;ENST00000358744	T;T;T	0.07567	3.18;3.18;3.18	3.76	1.43	0.22495	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03959	0.0111	N	0.02674	-0.535	0.09310	N	1	P	0.48764	0.915	P	0.45998	0.5	T	0.32214	-0.9915	9	0.72032	D	0.01	.	3.8066	0.08780	0.1646:0.5757:0.1608:0.0989	.	227	Q7Z3V5	ZN571_HUMAN	T	227	ENSP00000333660:A227T;ENSP00000392638:A227T;ENSP00000351594:A227T	ENSP00000333660:A227T	A	-	1	0	ZNF571	42748491	0.000000	0.05858	0.000000	0.03702	0.687000	0.40016	-0.056000	0.11787	0.209000	0.20645	0.313000	0.20887	GCA		0.383	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458669.1	NM_016536	
RYR1	6261	broad.mit.edu	37	19	38957021	38957021	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:38957021C>A	ENST00000359596.3	+	24	3161	c.3161C>A	c.(3160-3162)cCt>cAt	p.P1054H	RYR1_ENST00000355481.4_Missense_Mutation_p.P1054H|RYR1_ENST00000360985.3_Missense_Mutation_p.P1054H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1054	6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.P1054H(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	AACATCGAGCCTCCTGACCAG	0.657																																					p.P1054H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3161A	19						.						19.0	18.0	18.0					19																	38957021		2163	4249	6412	43648861	SO:0001583	missense	6261	exon24			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3161C>A	19.37:g.38957021C>A	ENSP00000352608:p.Pro1054His		43648861	NM_001042723	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	c	13.01	2.109157	0.37242	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.91351	-2.83;-2.83;-2.83	2.94	2.94	0.34122	B30.2/SPRY domain (1);Ryanodine receptor Ryr (1);	0.000000	0.64402	U	0.000002	D	0.94807	0.8323	M	0.80028	2.48	0.50813	D	0.999894	D;D	0.89917	1.0;0.999	D;D	0.77557	0.98;0.99	D	0.95533	0.8605	10	0.87932	D	0	.	14.7726	0.69691	0.0:1.0:0.0:0.0	.	1054;1054	P21817-2;P21817	.;RYR1_HUMAN	H	1054	ENSP00000352608:P1054H;ENSP00000347667:P1054H;ENSP00000354254:P1054H	ENSP00000347667:P1054H	P	+	2	0	RYR1	43648861	1.000000	0.71417	0.971000	0.41717	0.510000	0.34073	7.495000	0.81514	1.988000	0.58038	0.444000	0.29173	CCT		0.657	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
LGALS4	3960	broad.mit.edu	37	19	39303090	39303090	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:39303090C>T	ENST00000307751.4	-	2	592	c.115G>A	c.(115-117)Gcc>Acc	p.A39T	LGALS4_ENST00000597803.1_5'UTR	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	39	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				cell adhesion (GO:0007155)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.A39T(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TGCTCGCTGGCCACTCCTTGG	0.627																																					p.A39T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G115A	19						.						76.0	69.0	71.0					19																	39303090		2203	4300	6503	43994930	SO:0001583	missense	3960	exon2				CCDS12521.1	19q13.2	2014-03-19	2008-07-25		ENSG00000171747	ENSG00000171747		"""Lectins, galactoside-binding"""	6565	protein-coding gene	gene with protein product	"""galectin 4"""	602518				8063692	Standard	NM_006149		Approved	GAL4	uc002ojg.3	P56470	OTTHUMG00000182608	ENST00000307751.4:c.115G>A	19.37:g.39303090C>T	ENSP00000302100:p.Ala39Thr		43994930	NM_006149		Missense_Mutation	SNP	ENST00000307751.4	37	CCDS12521.1	.	.	.	.	.	.	.	.	.	.	C	3.403	-0.121925	0.06795	.	.	ENSG00000171747	ENST00000307751	T	0.11930	2.73	4.79	1.39	0.22231	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.623314	0.16626	N	0.206251	T	0.06462	0.0166	N	0.11131	0.1	0.09310	N	1	B;B	0.19935	0.023;0.04	B;B	0.19946	0.01;0.027	T	0.31392	-0.9945	10	0.44086	T	0.13	-9.5627	5.5553	0.17113	0.0:0.6094:0.1467:0.2438	.	39;39	B4DKK5;P56470	.;LEG4_HUMAN	T	39	ENSP00000302100:A39T	ENSP00000302100:A39T	A	-	1	0	LGALS4	43994930	0.013000	0.17824	0.382000	0.26119	0.051000	0.14879	0.386000	0.20702	0.618000	0.30179	0.563000	0.77884	GCC		0.627	LGALS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462641.1	NM_006149	
ECH1	1891	broad.mit.edu	37	19	39307095	39307095	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:39307095C>A	ENST00000221418.4	-	7	889	c.657G>T	c.(655-657)caG>caT	p.Q219H		NM_001398.2	NP_001389.2	Q13011	ECH1_HUMAN	enoyl CoA hydratase 1, peroxisomal	219					fatty acid beta-oxidation (GO:0006635)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	isomerase activity (GO:0016853)|receptor binding (GO:0005102)	p.Q219H(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6	all_cancers(60;9.36e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GCACCCACCTCTGGTTCCCGA	0.652																																					p.Q219H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G657T	19						.						62.0	58.0	60.0					19																	39307095		2203	4300	6503	43998935	SO:0001583	missense	1891	exon7			U16660	CCDS33014.1	19q13.1	2010-04-30	2010-04-30			ENSG00000104823			3149	protein-coding gene	gene with protein product		600696	"""enoyl Coenzyme A hydratase 1, peroxisomal"""			7558027	Standard	XM_005258610		Approved	HPXEL		Q13011		ENST00000221418.4:c.657G>T	19.37:g.39307095C>A	ENSP00000221418:p.Gln219His		43998935	NM_001398	A8K745|Q8WVX0|Q96EZ9	Missense_Mutation	SNP	ENST00000221418.4	37	CCDS33014.1	.	.	.	.	.	.	.	.	.	.	c	9.910	1.209316	0.22205	.	.	ENSG00000104823	ENST00000221418	T	0.68479	-0.33	4.92	3.85	0.44370	Crotonase, core (1);	0.206931	0.43110	D	0.000614	T	0.48003	0.1476	L	0.39085	1.19	0.41680	D	0.989289	B	0.11235	0.004	B	0.12156	0.007	T	0.36040	-0.9764	10	0.11182	T	0.66	.	5.551	0.17091	0.0:0.6575:0.1703:0.1722	.	219	Q13011	ECH1_HUMAN	H	219	ENSP00000221418:Q219H	ENSP00000221418:Q219H	Q	-	3	2	ECH1	43998935	0.995000	0.38212	1.000000	0.80357	0.987000	0.75469	0.166000	0.16583	2.539000	0.85634	0.561000	0.74099	CAG		0.652	ECH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462650.1		
HNRNPL	3191	broad.mit.edu	37	19	39334659	39334659	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:39334659C>T	ENST00000221419.5	-	5	1162	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	HNRNPL_ENST00000600873.1_Missense_Mutation_p.E133K|AC008982.2_ENST00000600473.1_RNA	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	266	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)	p.E266K(1)|p.E133K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TTTGCGTATTCGATCTTCAGA	0.517																																					p.E133K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G397A	19						.						155.0	139.0	145.0					19																	39334659		2203	4300	6503	44026499	SO:0001583	missense	3191	exon5			X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.796G>A	19.37:g.39334659C>T	ENSP00000221419:p.Glu266Lys		44026499	NM_001005335	A6ND69|A6NIT8|Q9H3P3	Missense_Mutation	SNP	ENST00000221419.5	37	CCDS33015.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940144	0.73557	.	.	ENSG00000104824	ENST00000221419;ENST00000388749;ENST00000388750;ENST00000423415;ENST00000536292	.	.	.	5.71	5.71	0.89125	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.67059	0.2853	M	0.62723	1.935	0.80722	D	1	B	0.23377	0.084	B	0.18561	0.022	T	0.65216	-0.6222	9	0.72032	D	0.01	.	18.625	0.91334	0.0:1.0:0.0:0.0	.	266	P14866	HNRPL_HUMAN	K	266;133;133;133;194	.	ENSP00000221419:E266K	E	-	1	0	HNRNPL	44026499	1.000000	0.71417	0.890000	0.34922	0.710000	0.40934	7.744000	0.85034	2.694000	0.91930	0.557000	0.71058	GAA		0.517	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1		
SUPT5H	6829	broad.mit.edu	37	19	39963546	39963546	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:39963546G>A	ENST00000599117.1	+	23	2499	c.2132G>A	c.(2131-2133)cGc>cAc	p.R711H	SUPT5H_ENST00000402194.2_Missense_Mutation_p.R707H|SUPT5H_ENST00000598725.1_Missense_Mutation_p.R711H|SUPT5H_ENST00000359191.6_Missense_Mutation_p.R707H|SUPT5H_ENST00000432763.2_Missense_Mutation_p.R711H			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	711	KOW 5.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.R711H(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAGACCGTGCGCATCTCCCAG	0.692																																					p.R711H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2132A	19						.						44.0	45.0	45.0					19																	39963546		2203	4300	6503	44655386	SO:0001583	missense	6829	exon21			U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.2132G>A	19.37:g.39963546G>A	ENSP00000470252:p.Arg711His		44655386	NM_003169	O43279|Q59G52|Q99639	Missense_Mutation	SNP	ENST00000599117.1	37	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.019380	0.93462	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	4.9	4.9	0.64082	KOW (2);	0.053606	0.64402	D	0.000001	T	0.74635	0.3742	L	0.55481	1.735	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.74348	0.932;0.983;0.961;0.969	T	0.74241	-0.3729	8	.	.	.	-15.5295	16.8478	0.85985	0.0:0.0:1.0:0.0	.	689;503;707;711	B4DZJ7;B4DJK4;O00267-2;O00267	.;.;.;SPT5H_HUMAN	H	711;707;689;711	.	.	R	+	2	0	SUPT5H	44655386	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.237000	0.95368	2.263000	0.75096	0.557000	0.71058	CGC		0.692	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169	
EID2	163126	broad.mit.edu	37	19	40030403	40030403	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:40030403G>A	ENST00000390658.2	-	1	467	c.317C>T	c.(316-318)gCg>gTg	p.A106V		NM_153232.3	NP_694964.3			EP300 interacting inhibitor of differentiation 2									p.A106V(1)		large_intestine(2)|lung(1)|urinary_tract(1)	4	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;3.2e-25)|all cancers(26;8.83e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			GGCGACCTCCGCCATCCGGGC	0.761																																					p.A106V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C317T	19						.						13.0	16.0	15.0					19																	40030403		1835	4046	5881	44722243	SO:0001583	missense	163126	exon1			BC030137	CCDS12540.2	19q13.2	2008-10-24	2006-10-12	2006-10-12	ENSG00000176396	ENSG00000176396			28292	protein-coding gene	gene with protein product		609773	"""CREBBP/EP300 inhibitory protein 2"", ""CREBBP/EP300 inhibitor 2"""	CRI2		14585496	Standard	NM_153232		Approved	EID-2, MGC20452	uc002oma.3	Q8N6I1	OTTHUMG00000074073	ENST00000390658.2:c.317C>T	19.37:g.40030403G>A	ENSP00000375073:p.Ala106Val		44722243	NM_153232		Missense_Mutation	SNP	ENST00000390658.2	37	CCDS12540.2	.	.	.	.	.	.	.	.	.	.	.	22.1	4.242419	0.79912	.	.	ENSG00000176396	ENST00000390658;ENST00000539700	T	0.49432	0.78	2.97	2.97	0.34412	.	0.175893	0.27473	N	0.019207	T	0.54549	0.1865	L	0.47716	1.5	0.21445	N	0.999688	D	0.89917	1.0	D	0.80764	0.994	T	0.39078	-0.9631	10	0.19147	T	0.46	.	9.6872	0.40105	0.0:0.0:1.0:0.0	.	106	Q8N6I1	EID2_HUMAN	V	106;57	ENSP00000375073:A106V	ENSP00000375073:A106V	A	-	2	0	EID2	44722243	0.889000	0.30405	0.360000	0.25837	0.589000	0.36550	2.783000	0.47766	1.962000	0.57031	0.479000	0.44913	GCG		0.761	EID2-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157251.1	NM_153232	
AKT2	208	broad.mit.edu	37	19	40741870	40741870	+	Missense_Mutation	SNP	G	G	A	rs144444132		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:40741870G>A	ENST00000392038.2	-	11	1400	c.1102C>T	c.(1102-1104)Cgc>Tgc	p.R368C	AKT2_ENST00000424901.1_Missense_Mutation_p.R368C|AKT2_ENST00000579047.1_Missense_Mutation_p.R306C|AKT2_ENST00000311278.6_Missense_Mutation_p.R325C	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	368	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)	p.R368C(1)		breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			CGCGGGAAGCGGATCTCTTCC	0.647			A		"""ovarian, pancreatic """																																p.R368C			Dom	yes		19	19q13.1-q13.2	208	v-akt murine thymoma viral oncogene homolog 2		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1102T	19						.	G	CYS/ARG	0,4406		0,0,2203	68.0	63.0	65.0		1102	5.8	1.0	19	dbSNP_134	65	1,8599	1.2+/-3.3	0,1,4299	no	missense	AKT2	NM_001626.4	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	368/482	40741870	1,13005	2203	4300	6503	45433710	SO:0001583	missense	208	exon11			M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.1102C>T	19.37:g.40741870G>A	ENSP00000375892:p.Arg368Cys		45433710	NM_001626	B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Missense_Mutation	SNP	ENST00000392038.2	37	CCDS12552.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010923	0.54361	0.0	1.16E-4	ENSG00000105221	ENST00000392038;ENST00000391844;ENST00000424901;ENST00000311278;ENST00000391845	T;T;T	0.53423	0.62;0.62;0.62	5.77	5.77	0.91146	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.048228	0.85682	D	0.000000	T	0.67813	0.2933	M	0.68317	2.08	0.80722	D	1	B;D;P	0.89917	0.435;1.0;0.634	B;D;B	0.67725	0.192;0.953;0.265	T	0.69355	-0.5167	10	0.87932	D	0	.	18.757	0.91836	0.0:0.0:1.0:0.0	.	306;325;368	B4DG79;Q0VAN0;P31751	.;.;AKT2_HUMAN	C	368;269;368;325;188	ENSP00000375892:R368C;ENSP00000399532:R368C;ENSP00000309428:R325C	ENSP00000309428:R325C	R	-	1	0	AKT2	45433710	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.668000	0.61568	2.735000	0.93741	0.555000	0.69702	CGC		0.647	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268029.1	NM_001626	
AKT2	208	broad.mit.edu	37	19	40741937	40741937	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:40741937G>A	ENST00000392038.2	-	11	1333	c.1035C>T	c.(1033-1035)tgC>tgT	p.C345C	AKT2_ENST00000424901.1_Silent_p.C345C|AKT2_ENST00000579047.1_Silent_p.C283C|AKT2_ENST00000311278.6_Silent_p.C302C	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	345	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)	p.C345C(1)		breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			GCAGGCGGCCGCACATCATCT	0.622			A		"""ovarian, pancreatic """																																p.C345C			Dom	yes		19	19q13.1-q13.2	208	v-akt murine thymoma viral oncogene homolog 2		E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1035T	19						.						105.0	87.0	93.0					19																	40741937		2203	4300	6503	45433777	SO:0001819	synonymous_variant	208	exon11			M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.1035C>T	19.37:g.40741937G>A			45433777	NM_001626	B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Silent	SNP	ENST00000392038.2	37	CCDS12552.1																																																																																				0.622	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268029.1	NM_001626	
SPTBN4	57731	broad.mit.edu	37	19	40998923	40998923	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:40998923G>T	ENST00000352632.3	+	5	635	c.549G>T	c.(547-549)aaG>aaT	p.K183N	SPTBN4_ENST00000344104.3_Missense_Mutation_p.K183N|SPTBN4_ENST00000598249.1_Missense_Mutation_p.K183N|SPTBN4_ENST00000595535.1_Missense_Mutation_p.K183N|SPTBN4_ENST00000338932.3_Missense_Mutation_p.K183N			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	183	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.K183N(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTCAGCCAAGGATGCTCTGC	0.507																																					p.K183N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G549T	19						.						115.0	91.0	99.0					19																	40998923		2203	4300	6503	45690763	SO:0001583	missense	57731	exon5			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.549G>T	19.37:g.40998923G>T	ENSP00000263373:p.Lys183Asn		45690763	NM_020971	E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.450771	0.63290	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	D;D;D	0.95377	-3.69;-3.69;-3.69	3.82	2.7	0.31948	Calponin homology domain (5);	0.320686	0.23250	U	0.050244	D	0.97736	0.9257	H	0.95437	3.67	0.80722	D	1	P;P	0.51057	0.571;0.941	B;P	0.59825	0.244;0.864	D	0.97754	1.0216	10	0.66056	D	0.02	.	10.4479	0.44505	0.1209:0.0:0.8791:0.0	.	183;183	Q9H254;Q71S06	SPTN4_HUMAN;.	N	183	ENSP00000263373:K183N;ENSP00000340345:K183N;ENSP00000340741:K183N	ENSP00000340345:K183N	K	+	3	2	SPTBN4	45690763	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	1.767000	0.38501	1.980000	0.57719	0.281000	0.19383	AAG		0.507	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2		
CYP2A13	1553	broad.mit.edu	37	19	41596422	41596422	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:41596422C>T	ENST00000330436.3	+	4	607	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	203					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.R203C(1)		breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	GTCACTGTTGCGCATGATGCT	0.572																																					p.R203C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C607T	19						.						150.0	130.0	137.0					19																	41596422		2203	4300	6503	46288262	SO:0001583	missense	1553	exon4			U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.607C>T	19.37:g.41596422C>T	ENSP00000332679:p.Arg203Cys		46288262	NM_000766	Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	ENST00000330436.3	37	CCDS12571.1	.	.	.	.	.	.	.	.	.	.	.	8.298	0.819189	0.16607	.	.	ENSG00000197838	ENST00000330436	T	0.69435	-0.4	3.66	3.66	0.41972	.	0.830634	0.10872	U	0.624829	T	0.58481	0.2125	L	0.45051	1.395	0.28882	N	0.894328	B	0.17268	0.021	B	0.16722	0.016	T	0.56396	-0.7986	10	0.66056	D	0.02	.	9.0369	0.36293	0.0:0.7731:0.2269:0.0	.	203	Q16696	CP2AD_HUMAN	C	203	ENSP00000332679:R203C	ENSP00000332679:R203C	R	+	1	0	CYP2A13	46288262	0.000000	0.05858	0.997000	0.53966	0.131000	0.20780	-0.557000	0.05985	1.871000	0.54225	0.195000	0.17529	CGC		0.572	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766	
CYP2F1	1572	broad.mit.edu	37	19	41626275	41626275	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:41626275C>T	ENST00000331105.2	+	4	430	c.358C>T	c.(358-360)Cga>Tga	p.R120*		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	120					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.R120*(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CAGTGGGGATCGATGGAAGGT	0.562																																					p.R120X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C358T	19						.						97.0	92.0	94.0					19																	41626275		2203	4300	6503	46318115	SO:0001587	stop_gained	1572	exon4			J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.358C>T	19.37:g.41626275C>T	ENSP00000333534:p.Arg120*		46318115	NM_000774	A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Nonsense_Mutation	SNP	ENST00000331105.2	37	CCDS12572.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.158827	0.38119	.	.	ENSG00000197446	ENST00000331105	.	.	.	4.25	0.388	0.16264	.	0.214943	0.38058	U	0.001821	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.2291	0.03992	0.3239:0.2949:0.2842:0.0969	.	.	.	.	X	120	.	ENSP00000333534:R120X	R	+	1	2	CYP2F1	46318115	0.000000	0.05858	0.189000	0.23252	0.189000	0.23516	-0.842000	0.04354	0.413000	0.25759	-0.335000	0.08231	CGA		0.562	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2		
TICAM1	148022	broad.mit.edu	37	19	4817394	4817394	+	Silent	SNP	C	C	T	rs199935588		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:4817394C>T	ENST00000248244.5	-	2	1225	c.996G>A	c.(994-996)acG>acA	p.T332T		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	332	Pro-rich.				apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.T332T(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GTTGGAGTGGCGTCTGGTCTT	0.582																																					p.T332T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G996A	19						.						52.0	56.0	55.0					19																	4817394		2200	4291	6491	4768394	SO:0001819	synonymous_variant	148022	exon2			AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.996G>A	19.37:g.4817394C>T			4768394	NM_182919	B3Y691|O75532|Q86XP8|Q96GA0	Silent	SNP	ENST00000248244.5	37	CCDS12136.1																																																																																				0.582	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450435.1	NM_014261	
CIC	23152	broad.mit.edu	37	19	42797885	42797885	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:42797885C>T	ENST00000575354.2	+	16	3977	c.3937C>T	c.(3937-3939)Cgg>Tgg	p.R1313W	CIC_ENST00000160740.3_Missense_Mutation_p.R1311W|CIC_ENST00000572681.2_Missense_Mutation_p.R2220W	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1313					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R1313W(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAGCAGTGGGCGGGCAGCCGG	0.692			"""Mis, F, S"""		oligodendroglioma																																p.R1313W			Rec	yes		19	19q13.2	23152	capicua homolog		O	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3937T	19						.						15.0	21.0	19.0					19																	42797885		2181	4273	6454	47489725	SO:0001583	missense	23152	exon16			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.3937C>T	19.37:g.42797885C>T	ENSP00000458663:p.Arg1313Trp		47489725	NM_015125	Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.476677	0.26511	.	.	ENSG00000079432	ENST00000160740	.	.	.	5.39	1.58	0.23477	.	.	.	.	.	T	0.24812	0.0602	N	0.14661	0.345	0.27035	N	0.964154	D	0.56287	0.975	B	0.43478	0.421	T	0.14172	-1.0482	8	0.87932	D	0	-14.2777	12.2962	0.54847	0.5094:0.4906:0.0:0.0	.	1313	Q96RK0	CIC_HUMAN	W	1313	.	ENSP00000160740:R1313W	R	+	1	2	CIC	47489725	0.704000	0.27836	0.943000	0.38184	0.014000	0.08584	-0.045000	0.12003	0.418000	0.25898	-0.467000	0.05162	CGG		0.692	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2		
PSG6	5675	broad.mit.edu	37	19	43420602	43420602	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:43420602G>A	ENST00000292125.2	-	2	146	c.102C>T	c.(100-102)gcC>gcT	p.A34A	PSG6_ENST00000187910.2_Silent_p.A34A|PSG6_ENST00000601833.1_5'UTR|PSG6_ENST00000402603.4_Silent_p.A34A	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	34					female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.A34A(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				TTATTACTTGGGCAGTGGTGG	0.458																																					p.A34A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C102T	19						.						141.0	144.0	143.0					19																	43420602		2201	4299	6500	48112442	SO:0001819	synonymous_variant	5675	exon2				CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.102C>T	19.37:g.43420602G>A			48112442	NM_001031850	O75244|Q15224|Q15235|Q549K1	Silent	SNP	ENST00000292125.2	37	CCDS12613.1																																																																																				0.458	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782	
PSG2	5670	broad.mit.edu	37	19	43576061	43576061	+	Missense_Mutation	SNP	C	C	T	rs1135795		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:43576061C>T	ENST00000406487.1	-	4	853	c.755G>A	c.(754-756)cGt>cAt	p.R252H		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	252	Ig-like C2-type 2.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.R252H(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				ATCTCCTGAACGGTAATTGGT	0.473																																					p.R252H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G755A	19						.						170.0	181.0	177.0					19																	43576061		2203	4299	6502	48267901	SO:0001583	missense	5670	exon4				CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.755G>A	19.37:g.43576061C>T	ENSP00000385706:p.Arg252His		48267901	NM_031246	Q8TCD9|Q9UEA4|Q9UQ78	Missense_Mutation	SNP	ENST00000406487.1	37	CCDS12616.1	.	.	.	.	.	.	.	.	.	.	c	0.011	-1.714411	0.00706	.	.	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	T	0.13307	2.6	1.26	-2.53	0.06326	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.08044	0.0201	L	0.38649	1.16	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.40942	-0.9536	9	0.17369	T	0.5	.	3.4359	0.07445	0.0:0.25:0.3458:0.4042	rs1135795;rs17420274	252;252	B5MCM8;P11465	.;PSG2_HUMAN	H	252	ENSP00000385706:R252H	ENSP00000332984:R252H	R	-	2	0	PSG2	48267901	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.761000	0.00786	-2.001000	0.00964	-0.552000	0.04208	CGT		0.473	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246	
ZNF229	7772	broad.mit.edu	37	19	44933503	44933503	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:44933503C>T	ENST00000588931.1	-	6	1886	c.1453G>A	c.(1453-1455)Ggc>Agc	p.G485S	ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000291187.4_Missense_Mutation_p.G479S|CTC-512J12.4_ENST00000588655.1_RNA	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	485					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G485S(2)		breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GGCCTCTCGCCGGTGTGTGTC	0.542																																					p.G485S												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G1453A	19						.						104.0	111.0	109.0					19																	44933503		2132	4269	6401	49625343	SO:0001583	missense	7772	exon6			AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.1453G>A	19.37:g.44933503C>T	ENSP00000466519:p.Gly485Ser		49625343	NM_014518	B2RWN3|Q59FV2|Q86WL9	Missense_Mutation	SNP	ENST00000588931.1	37	CCDS42574.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035587	0.54896	.	.	ENSG00000167383	ENST00000291187	.	.	.	3.74	2.65	0.31530	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.61974	0.2390	L	0.59967	1.855	0.09310	N	1	D	0.89917	1.0	D	0.72982	0.979	T	0.51482	-0.8700	8	0.87932	D	0	.	10.4122	0.44301	0.0:0.8967:0.0:0.1033	.	485	Q9UJW7	ZN229_HUMAN	S	485	.	ENSP00000291187:G485S	G	-	1	0	ZNF229	49625343	0.001000	0.12720	0.001000	0.08648	0.014000	0.08584	1.342000	0.33919	0.512000	0.28257	0.609000	0.83330	GGC		0.542	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518	
CLPTM1	1209	broad.mit.edu	37	19	45493841	45493841	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:45493841C>T	ENST00000337392.5	+	10	1471	c.1321C>T	c.(1321-1323)Cgg>Tgg	p.R441W	CLPTM1_ENST00000541297.2_Missense_Mutation_p.R427W|CLPTM1_ENST00000546079.1_Missense_Mutation_p.R339W	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	441					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.R441W(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		CATGGACGTCCGGGTAAGGCT	0.632																																					p.R441W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1321T	19						.						72.0	72.0	72.0					19																	45493841		2203	4300	6503	50185681	SO:0001583	missense	1209	exon10			AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.1321C>T	19.37:g.45493841C>T	ENSP00000336994:p.Arg441Trp		50185681	NM_001294	B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Missense_Mutation	SNP	ENST00000337392.5	37	CCDS12651.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.438120	0.83885	.	.	ENSG00000104853	ENST00000546079;ENST00000541297;ENST00000337392;ENST00000347493	.	.	.	5.07	5.07	0.68467	.	0.241058	0.39834	N	0.001248	T	0.74230	0.3689	M	0.80183	2.485	0.52099	D	0.999949	D;D	0.63046	0.99;0.992	P;P	0.56916	0.599;0.809	T	0.78314	-0.2252	9	0.87932	D	0	-23.8209	11.1492	0.48449	0.1842:0.8158:0.0:0.0	.	427;441	F5H8J3;O96005	.;CLPT1_HUMAN	W	339;427;441;441	.	ENSP00000336994:R441W	R	+	1	2	CLPTM1	50185681	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.677000	0.54619	2.385000	0.81259	0.555000	0.69702	CGG		0.632	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	NM_001294	
PPM1N	147699	broad.mit.edu	37	19	46003741	46003741	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:46003741C>A	ENST00000451287.2	+	3	1085	c.1085C>A	c.(1084-1086)cCc>cAc	p.P362H	PPM1N_ENST00000396735.2_Missense_Mutation_p.P44H|PPM1N_ENST00000401593.1_Missense_Mutation_p.P44H|PPM1N_ENST00000324688.4_3'UTR|PPM1N_ENST00000401705.1_Missense_Mutation_p.P44H|PPM1N_ENST00000396736.2_Missense_Mutation_p.P44H|PPM1N_ENST00000396737.2_Missense_Mutation_p.P44H|PPM1N_ENST00000456399.2_Missense_Mutation_p.P44H	NM_001080401.1	NP_001073870.1	Q8N819	PPM1N_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative)	362							magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoprotein phosphatase activity (GO:0004721)	p.P362H(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)	9						CAGAAGCCCCCCAGCCTGAAC	0.572																																					p.P362H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1085A	19						.						23.0	23.0	23.0					19																	46003741		1924	4122	6046	50695581	SO:0001583	missense	147699	exon3			AK097444	CCDS46115.1	19q13.32	2012-04-17			ENSG00000213889	ENSG00000213889		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	26845	protein-coding gene	gene with protein product							Standard	NM_001080401		Approved	FLJ40125	uc002pce.3	Q8N819	OTTHUMG00000140397	ENST00000451287.2:c.1085C>A	19.37:g.46003741C>A	ENSP00000397050:p.Pro362His		50695581	NM_001080401	Q6P662	Missense_Mutation	SNP	ENST00000451287.2	37	CCDS46115.1	.	.	.	.	.	.	.	.	.	.	c	13.60	2.284915	0.40394	.	.	ENSG00000213889	ENST00000401705;ENST00000456399;ENST00000396737;ENST00000451287;ENST00000396734;ENST00000396735;ENST00000401593;ENST00000402807;ENST00000396736	T	0.31247	1.5	3.55	2.52	0.30459	Protein serine/threonine phosphatase 2C, C-terminal (3);	.	.	.	.	T	0.44244	0.1284	L	0.61387	1.9	0.80722	D	1	D	0.62365	0.991	D	0.64506	0.926	T	0.29518	-1.0009	9	0.45353	T	0.12	.	6.7561	0.23514	0.0:0.8724:0.0:0.1276	.	362	Q8N819	PPM1N_HUMAN	H	44;44;44;362;362;44;44;44;44	ENSP00000397050:P362H	ENSP00000379960:P362H	P	+	2	0	PPM1N	50695581	0.969000	0.33509	0.983000	0.44433	0.476000	0.33039	1.893000	0.39758	1.090000	0.41315	0.651000	0.88453	CCC		0.572	PPM1N-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326517.2	NM_001080401	
SLC1A5	6510	broad.mit.edu	37	19	47280655	47280655	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:47280655T>C	ENST00000542575.2	-	6	1694	c.1066A>G	c.(1066-1068)Acg>Gcg	p.T356A	SLC1A5_ENST00000412532.2_Missense_Mutation_p.T128A|SLC1A5_ENST00000434726.2_Missense_Mutation_p.T154A|SLC1A5_ENST00000594991.1_Missense_Mutation_p.T180A	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	356					amino acid transport (GO:0006865)|extracellular amino acid transport (GO:0006860)|glutamine transport (GO:0006868)|ion transport (GO:0006811)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-glutamine transmembrane transporter activity (GO:0015186)|L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)|receptor activity (GO:0004872)|sodium:dicarboxylate symporter activity (GO:0017153)|virus receptor activity (GO:0001618)	p.T356A(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	AGCGGCAGCGTGGCGGAACTG	0.637																																					p.T154A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A460G	19						.						44.0	35.0	38.0					19																	47280655		2203	4300	6503	51972495	SO:0001583	missense	6510	exon5			U53347	CCDS12692.1, CCDS46125.1, CCDS46126.1	19q13.32	2013-07-15			ENSG00000105281	ENSG00000105281		"""Solute carriers"""	10943	protein-coding gene	gene with protein product		109190		RDRC, M7V1		8702519, 10051606	Standard	NM_005628		Approved	AAAT, ASCT2	uc002pfs.3	Q15758	OTTHUMG00000183434	ENST00000542575.2:c.1066A>G	19.37:g.47280655T>C	ENSP00000444408:p.Thr356Ala		51972495	NM_001145145	A8K9H5|B4DR77|B4DWS4|B7ZB81|D0EYG6|E9PC01|O95720|Q96RL9|Q9BWQ3|Q9UNP2	Missense_Mutation	SNP	ENST00000542575.2	37	CCDS12692.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.855885	0.91355	.	.	ENSG00000105281	ENST00000542575;ENST00000434726;ENST00000412532;ENST00000306894	T;T;T	0.67171	-0.25;-0.25;-0.25	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.79191	0.4404	M	0.76938	2.355	0.80722	D	1	D;P;P	0.59767	0.986;0.883;0.883	P;P;P	0.60286	0.856;0.872;0.872	T	0.82514	-0.0419	10	0.87932	D	0	-36.2035	13.8775	0.63662	0.0:0.0:0.0:1.0	.	154;356;356	E9PC01;Q15758;Q71UA6	.;AAAT_HUMAN;.	A	356;154;128;363	ENSP00000444408:T356A;ENSP00000406532:T154A;ENSP00000397924:T128A	ENSP00000303623:T363A	T	-	1	0	SLC1A5	51972495	1.000000	0.71417	0.991000	0.47740	0.815000	0.46073	6.094000	0.71431	2.116000	0.64780	0.379000	0.24179	ACG		0.637	SLC1A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466630.1		
ARHGAP35	2909	broad.mit.edu	37	19	47422343	47422343	+	Silent	SNP	C	C	T	rs368641937		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:47422343C>T	ENST00000404338.3	+	1	411	c.411C>T	c.(409-411)gaC>gaT	p.D137D		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	137					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.D137D(1)									TTTGCACTGACCAGCTGGGGC	0.498																																					p.D137D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C411T	19						.	C		0,3862		0,0,1931	63.0	60.0	61.0		411	4.9	1.0	19		61	2,8258		0,2,4128	no	coding-synonymous	ARHGAP35	NM_004491.4		0,2,6059	TT,TC,CC		0.0242,0.0,0.0165		137/1500	47422343	2,12120	1931	4130	6061	52114183	SO:0001819	synonymous_variant	2909	exon1			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.411C>T	19.37:g.47422343C>T			52114183	NM_004491	A7E2A4|Q14452|Q9C0E1	Silent	SNP	ENST00000404338.3	37	CCDS46127.1																																																																																				0.498	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491	
MEIS3	56917	broad.mit.edu	37	19	47910384	47910384	+	Missense_Mutation	SNP	C	C	T	rs201978447		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:47910384C>T	ENST00000558555.1	-	10	1133	c.946G>A	c.(946-948)Gcc>Acc	p.A316T	MEIS3_ENST00000559524.1_Missense_Mutation_p.A362T|MEIS3_ENST00000331559.5_Missense_Mutation_p.A345T|MEIS3_ENST00000560253.1_5'UTR|MEIS3_ENST00000441740.2_Missense_Mutation_p.A299T|MEIS3_ENST00000561293.1_Missense_Mutation_p.A362T|MEIS3_ENST00000561096.1_Missense_Mutation_p.A404T			Q99687	MEIS3_HUMAN	Meis homeobox 3	316					negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of protein kinase B signaling (GO:0051897)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.A362T(1)		breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		CGTCTCCGGGCGTTAATGAAC	0.607																																					p.A362T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1084A	19						.						59.0	34.0	42.0					19																	47910384		2203	4300	6503	52602196	SO:0001583	missense	56917	exon10			BC025404	CCDS33064.1, CCDS46132.1, CCDS74406.1	19q13.32	2012-10-02	2007-02-15		ENSG00000105419	ENSG00000105419		"""Homeoboxes / TALE class"""	29537	protein-coding gene	gene with protein product			"""Meis1, myeloid ecotropic viral integration site 1 homolog 3 (mouse)"""			8950991	Standard	NM_020160		Approved	MRG2, DKFZp547H236	uc002pgt.4	Q99687	OTTHUMG00000172280	ENST00000558555.1:c.946G>A	19.37:g.47910384C>T	ENSP00000454073:p.Ala316Thr		52602196	NM_020160	A8K1N5|Q6NT73|Q8TC66|Q9NPW2	Missense_Mutation	SNP	ENST00000558555.1	37		.	.	.	.	.	.	.	.	.	.	C	33	5.254721	0.95336	.	.	ENSG00000105419	ENST00000331559;ENST00000441740	D	0.94687	-3.49	4.24	4.24	0.50183	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96972	0.9011	M	0.82132	2.575	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;0.991;0.999;1.0	D;D;P;P;D	0.91635	0.999;0.985;0.825;0.765;0.999	D	0.97421	1.0009	10	0.87932	D	0	-23.1395	14.5053	0.67748	0.0:1.0:0.0:0.0	.	208;316;299;362;191	Q8TCW1;Q99687;Q99687-3;Q99687-2;Q59FK5	.;MEIS3_HUMAN;.;.;.	T	362;299	ENSP00000388667:A299T	ENSP00000333552:A362T	A	-	1	0	MEIS3	52602196	1.000000	0.71417	0.994000	0.49952	0.954000	0.61252	6.870000	0.75526	2.365000	0.80145	0.436000	0.28706	GCC		0.607	MEIS3-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000417642.1	XM_085929	
EHD2	30846	broad.mit.edu	37	19	48229174	48229174	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:48229174C>A	ENST00000263277.3	+	4	859	c.608C>A	c.(607-609)gCc>gAc	p.A203D	EHD2_ENST00000538399.1_Missense_Mutation_p.A67D|CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	203	Dynamin-type G.				blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)	p.A203D(1)		endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		TTCTCAGAGGCCATCGGCGCG	0.642																																					p.A203D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C608A	19						.						49.0	39.0	42.0					19																	48229174		2203	4300	6503	52920986	SO:0001583	missense	30846	exon4			AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"""EF-hand domain containing"""	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.608C>A	19.37:g.48229174C>A	ENSP00000263277:p.Ala203Asp		52920986	NM_014601	B2RDH9|B4DNU6|Q96CB6	Missense_Mutation	SNP	ENST00000263277.3	37	CCDS12704.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.152735	0.78001	.	.	ENSG00000024422	ENST00000263277;ENST00000539439;ENST00000540364;ENST00000538399	D;D	0.97016	-4.21;-4.21	3.66	2.6	0.31112	Dynamin, GTPase domain (1);	0.064070	0.64402	D	0.000010	D	0.95909	0.8668	M	0.79011	2.435	0.80722	D	1	D	0.52996	0.957	P	0.49597	0.616	D	0.95168	0.8287	10	0.87932	D	0	-27.4906	8.4136	0.32657	0.0:0.8788:0.0:0.1212	.	203	Q9NZN4	EHD2_HUMAN	D	203;203;193;67	ENSP00000263277:A203D;ENSP00000439036:A67D	ENSP00000263277:A203D	A	+	2	0	EHD2	52920986	0.908000	0.30866	1.000000	0.80357	0.943000	0.58893	0.367000	0.20382	1.793000	0.52555	0.456000	0.33151	GCC		0.642	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465851.1		
EHD2	30846	broad.mit.edu	37	19	48244551	48244551	+	Silent	SNP	C	C	T	rs570148430		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:48244551C>T	ENST00000263277.3	+	6	1745	c.1494C>T	c.(1492-1494)gaC>gaT	p.D498D	EHD2_ENST00000538399.1_Silent_p.D362D|EHD2_ENST00000540884.1_3'UTR	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	498	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)	p.D498D(1)		endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		TGGACCGCGACGGCATGCTGG	0.667													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16753	0.0		0.0	False		,,,				2504	0.0				p.D498D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1494T	19						.						54.0	44.0	47.0					19																	48244551		2203	4300	6503	52936363	SO:0001819	synonymous_variant	30846	exon6			AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"""EF-hand domain containing"""	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.1494C>T	19.37:g.48244551C>T			52936363	NM_014601	B2RDH9|B4DNU6|Q96CB6	Silent	SNP	ENST00000263277.3	37	CCDS12704.1	.	.	.	.	.	.	.	.	.	.	C	8.688	0.906740	0.17833	.	.	ENSG00000024422	ENST00000454483	.	.	.	4.03	-4.17	0.03857	.	.	.	.	.	T	0.66336	0.2779	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70561	-0.4838	5	0.87932	D	0	-32.7952	10.6391	0.45582	0.0:0.3796:0.0:0.6204	.	.	.	.	W	168	.	ENSP00000391634:R168W	R	+	1	2	EHD2	52936363	0.000000	0.05858	0.978000	0.43139	0.951000	0.60555	-2.178000	0.01260	-0.609000	0.05724	-0.224000	0.12420	CGG		0.667	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465851.1		
PLA2G4C	8605	broad.mit.edu	37	19	48608657	48608657	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:48608657G>A	ENST00000599921.1	-	3	410	c.53C>T	c.(52-54)gCg>gTg	p.A18V	PLA2G4C_ENST00000599111.1_Missense_Mutation_p.A28V|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.A18V|PLA2G4C_ENST00000354276.3_Missense_Mutation_p.A18V			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	18	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)	p.A18V(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		CTCCACGGCCGCCTTTTCTTC	0.483																																					p.A18V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C53T	19						.						95.0	108.0	104.0					19																	48608657		2203	4300	6503	53300469	SO:0001583	missense	8605	exon3			AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.53C>T	19.37:g.48608657G>A	ENSP00000469473:p.Ala18Val		53300469	NM_001159323	B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Missense_Mutation	SNP	ENST00000599921.1	37	CCDS12710.1	.	.	.	.	.	.	.	.	.	.	G	1.968	-0.437316	0.04636	.	.	ENSG00000105499	ENST00000354276;ENST00000413144	T;T	0.04758	3.56;3.56	2.72	-5.44	0.02624	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	1.346960	0.05590	N	0.574519	T	0.03520	0.0101	L	0.35644	1.08	0.09310	N	1	B;B;B	0.23591	0.088;0.088;0.088	B;B;B	0.15484	0.013;0.007;0.01	T	0.21586	-1.0241	10	0.30078	T	0.28	0.0523	1.8348	0.03138	0.1712:0.1033:0.3243:0.4013	.	28;18;18	B4DI40;Q8WWC5;Q9UP65	.;.;PA24C_HUMAN	V	18	ENSP00000346228:A18V;ENSP00000400036:A18V	ENSP00000346228:A18V	A	-	2	0	PLA2G4C	53300469	0.000000	0.05858	0.005000	0.12908	0.040000	0.13550	-3.514000	0.00445	-4.230000	0.00063	-1.021000	0.02439	GCG		0.483	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1		
TMEM143	55260	broad.mit.edu	37	19	48866781	48866781	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:48866781C>A	ENST00000293261.3	-	2	347	c.31G>T	c.(31-33)Gga>Tga	p.G11*	TMEM143_ENST00000598012.1_5'UTR|TMEM143_ENST00000541566.1_Intron|TMEM143_ENST00000436660.2_Nonsense_Mutation_p.G11*|TMEM143_ENST00000435956.3_Nonsense_Mutation_p.G11*|SYNGR4_ENST00000344846.2_5'Flank|TMEM143_ENST00000377431.2_Nonsense_Mutation_p.G11*	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	11					hematopoietic progenitor cell differentiation (GO:0002244)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.G11*(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		AGACCCTTTCCCCGGAGCCTA	0.652																																					p.G11X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G31T	19						.						19.0	23.0	21.0					19																	48866781		2202	4298	6500	53558593	SO:0001587	stop_gained	55260	exon2			AK129801	CCDS12716.1	19q13.32	2008-02-05				ENSG00000161558			25603	protein-coding gene	gene with protein product						12975309	Standard	NM_018273		Approved	FLJ10922	uc002pix.1	Q96AN5		ENST00000293261.3:c.31G>T	19.37:g.48866781C>A	ENSP00000293261:p.Gly11*		53558593	NM_018273	A8K656|Q6UXY4|Q9NV49	Nonsense_Mutation	SNP	ENST00000293261.3	37	CCDS12716.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.049220	0.93740	.	.	ENSG00000161558	ENST00000293261;ENST00000377431;ENST00000435956;ENST00000436660	.	.	.	5.56	3.41	0.39046	.	0.586022	0.14720	N	0.302384	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	0.2259	8.0879	0.30784	0.0:0.8189:0.0:0.1811	.	.	.	.	X	11	.	ENSP00000293261:G11X	G	-	1	0	TMEM143	53558593	0.000000	0.05858	0.276000	0.24689	0.722000	0.41435	0.715000	0.25822	1.494000	0.48533	0.561000	0.74099	GGA		0.652	TMEM143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465622.1	NM_018273	
FUT2	2524	broad.mit.edu	37	19	49206452	49206452	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:49206452C>A	ENST00000425340.2	+	2	356	c.239C>A	c.(238-240)gCc>gAc	p.A80D	FUT2_ENST00000391876.4_Missense_Mutation_p.A80D	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	80					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)	p.A80D(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		GGCGAGTACGCCACACTGTAC	0.632																																					p.A80D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C239A	19						.						51.0	47.0	49.0					19																	49206452		2203	4300	6503	53898264	SO:0001583	missense	2524	exon2				CCDS33069.1	19q13.33	2014-07-19			ENSG00000176920	ENSG00000176920		"""Fucosyltransferases"""	4013	protein-coding gene	gene with protein product	"""alpha (1,2) fucosyltransferase"", ""galactoside 2-alpha-L-fucosyltransferase 2"", ""GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2"", ""alpha(1,2)FT2"", ""secretor factor"", ""secretor blood group alpha-2-fucosyltransferase"""	182100		SE		1763885	Standard	NM_000511		Approved	sej, Se2, SEC2	uc010emc.3	Q10981	OTTHUMG00000164427	ENST00000425340.2:c.239C>A	19.37:g.49206452C>A	ENSP00000387498:p.Ala80Asp		53898264	NM_001097638	Q0VAG5|Q14338|Q5D0G2	Missense_Mutation	SNP	ENST00000425340.2	37	CCDS33069.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.143342	0.57044	.	.	ENSG00000176920	ENST00000522966;ENST00000425340;ENST00000391876	D;D;D	0.97505	-4.41;-4.41;-4.41	4.33	4.33	0.51752	.	.	.	.	.	D	0.98635	0.9543	M	0.90922	3.16	0.42212	D	0.991812	D	0.89917	1.0	D	0.97110	1.0	D	0.99849	1.1069	9	0.87932	D	0	.	14.7241	0.69329	0.0:1.0:0.0:0.0	.	80	Q10981	FUT2_HUMAN	D	80	ENSP00000430227:A80D;ENSP00000387498:A80D;ENSP00000375748:A80D	ENSP00000375748:A80D	A	+	2	0	FUT2	53898264	1.000000	0.71417	0.986000	0.45419	0.283000	0.27025	4.738000	0.62073	2.131000	0.65755	0.549000	0.68633	GCC		0.632	FUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378731.2	NM_000511	
FGF21	26291	broad.mit.edu	37	19	49261335	49261335	+	Missense_Mutation	SNP	G	G	A	rs374501551		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:49261335G>A	ENST00000593756.1	+	4	1060	c.488G>A	c.(487-489)cGc>cAc	p.R163H	FGF21_ENST00000222157.3_Missense_Mutation_p.R163H|FUT1_ENST00000310160.3_5'Flank			Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21	163					cell-cell signaling (GO:0007267)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glucose import (GO:0046326)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|regulation of low-density lipoprotein particle clearance (GO:0010988)|signal transduction (GO:0007165)	extracellular region (GO:0005576)		p.R163H(1)		breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		GGACCAGCTCGCTTCCTGCCA	0.687																																					p.R163H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G488A	19						.	G	HIS/ARG	0,4378		0,0,2189	17.0	23.0	21.0		488	4.4	1.0	19		21	1,8575		0,1,4287	no	missense	FGF21	NM_019113.2	29	0,1,6476	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging	163/210	49261335	1,12953	2189	4288	6477	53953147	SO:0001583	missense	26291	exon3			AB021975	CCDS12734.1	19q13.33	2012-09-20			ENSG00000105550	ENSG00000105550			3678	protein-coding gene	gene with protein product		609436				10858549	Standard	XM_005258731		Approved		uc002pko.1	Q9NSA1		ENST00000593756.1:c.488G>A	19.37:g.49261335G>A	ENSP00000471477:p.Arg163His		53953147	NM_019113	Q8N683	Missense_Mutation	SNP	ENST00000593756.1	37	CCDS12734.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.752795	0.49362	0.0	1.17E-4	ENSG00000105550	ENST00000222157	D	0.84442	-1.85	4.44	4.44	0.53790	.	0.307695	0.30356	N	0.009804	T	0.77343	0.4116	N	0.24115	0.695	0.49051	D	0.999742	D	0.65815	0.995	P	0.50082	0.63	T	0.74993	-0.3474	10	0.02654	T	1	-11.2373	12.7558	0.57335	0.0:0.0:1.0:0.0	.	163	Q9NSA1	FGF21_HUMAN	H	163	ENSP00000222157:R163H	ENSP00000222157:R163H	R	+	2	0	FGF21	53953147	0.979000	0.34478	0.976000	0.42696	0.031000	0.12232	3.075000	0.50073	2.464000	0.83262	0.511000	0.50034	CGC		0.687	FGF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466200.1		
CD37	951	broad.mit.edu	37	19	49841988	49841988	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:49841988A>G	ENST00000323906.4	+	6	620	c.479A>G	c.(478-480)gAc>gGc	p.D160G	CD37_ENST00000598095.1_Missense_Mutation_p.D92G|CTC-301O7.4_ENST00000358234.4_lincRNA|CD37_ENST00000426897.2_Missense_Mutation_p.D92G|CD37_ENST00000535669.2_Missense_Mutation_p.D160G	NM_001774.2	NP_001765.1	P11049	CD37_HUMAN	CD37 molecule	160					defense response to protozoan (GO:0042832)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|positive regulation of immunoglobulin production (GO:0002639)|regulation of defense response to virus (GO:0050688)|regulation of humoral immune response (GO:0002920)	extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.D160G(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		TACCCGCAGGACTGGTTCCAA	0.612																																					p.D92G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A275G	19						.						60.0	53.0	56.0					19																	49841988		2203	4300	6503	54533800	SO:0001583	missense	951	exon6				CCDS12760.1, CCDS46139.1	19p13-q13.4	2013-02-14	2006-03-28			ENSG00000104894		"""CD molecules"", ""Tetraspanins"""	1666	protein-coding gene	gene with protein product		151523	"""CD37 antigen"""			8436422	Standard	XM_005259435		Approved	TSPAN26	uc002pnd.3	P11049		ENST00000323906.4:c.479A>G	19.37:g.49841988A>G	ENSP00000325708:p.Asp160Gly		54533800	NM_001040031	B4DVC1|Q3KPF9	Missense_Mutation	SNP	ENST00000323906.4	37	CCDS12760.1	.	.	.	.	.	.	.	.	.	.	A	19.48	3.834836	0.71373	.	.	ENSG00000104894	ENST00000323906;ENST00000426897;ENST00000535669	D;D;D	0.84146	-1.81;-1.81;-1.81	3.95	3.95	0.45737	Tetraspanin, EC2 domain (1);	0.000000	0.64402	D	0.000008	D	0.92469	0.7609	M	0.89601	3.045	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.992;0.999;0.999	D	0.92729	0.6198	10	0.66056	D	0.02	.	9.5043	0.39037	1.0:0.0:0.0:0.0	.	92;160;160	B4DVC1;B7ZAN3;P11049	.;.;CD37_HUMAN	G	160;92;160	ENSP00000325708:D160G;ENSP00000413151:D92G;ENSP00000441037:D160G	ENSP00000325708:D160G	D	+	2	0	CD37	54533800	1.000000	0.71417	0.997000	0.53966	0.650000	0.38633	3.147000	0.50639	1.561000	0.49584	0.402000	0.26972	GAC		0.612	CD37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465532.1		
PTH2	113091	broad.mit.edu	37	19	49925727	49925727	+	Nonstop_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:49925727A>G	ENST00000270631.1	-	2	402	c.301T>C	c.(301-303)Tga>Cga	p.*101R	CTD-3148I10.1_ENST00000576655.1_5'Flank	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	0					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.*101R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		CAGCGCGCTCAGGGCGCATCC	0.687																																					p.X101R												.	.	1	Nonstop extension(1)	large_intestine(1)	c.T301C	19						.						31.0	34.0	33.0					19																	49925727		2195	4295	6490	54617539	SO:0001578	stop_lost	113091	exon2			AY037555	CCDS12763.1	19q13.33	2013-02-28				ENSG00000142538		"""Endogenous ligands"""	30828	protein-coding gene	gene with protein product	"""tuberoinfundibular 39 residues"""	608386				11861531	Standard	NM_178449		Approved	TIP39	uc002pnn.1	Q96A98		ENST00000270631.1:c.301T>C	19.37:g.49925727A>G	ENSP00000270631:p.*101Glyext*8		54617539	NM_178449	Q96DJ4	Nonstop_Mutation	SNP	ENST00000270631.1	37	CCDS12763.1	.	.	.	.	.	.	.	.	.	.	a	3.964	-0.009770	0.07727	.	.	ENSG00000142538	ENST00000270631	.	.	.	3.3	2.27	0.28462	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.1303	0.14907	0.8593:0.0:0.1407:0.0	.	.	.	.	R	101	.	.	X	-	1	0	PTH2	54617539	0.999000	0.42202	0.997000	0.53966	0.032000	0.12392	1.343000	0.33930	0.483000	0.27608	0.235000	0.17854	TGA		0.687	PTH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465366.1	NM_178449	
RCN3	57333	broad.mit.edu	37	19	50040362	50040362	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:50040362G>A	ENST00000270645.3	+	4	965	c.518G>A	c.(517-519)cGg>cAg	p.R173Q		NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	173	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					endoplasmic reticulum (GO:0005783)	calcium ion binding (GO:0005509)	p.R173Q(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		CGGCGTTTCCGGGTGGCCGAC	0.587																																					p.R173Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G518A	19						.						136.0	136.0	136.0					19																	50040362		2203	4300	6503	54732174	SO:0001583	missense	57333	exon4			AY195859	CCDS12771.1	19q13.33	2013-01-10				ENSG00000142552		"""EF-hand domain containing"""	21145	protein-coding gene	gene with protein product							Standard	NM_020650		Approved	RLP49	uc002poj.3	Q96D15		ENST00000270645.3:c.518G>A	19.37:g.50040362G>A	ENSP00000270645:p.Arg173Gln		54732174	NM_020650	Q9HBZ8	Missense_Mutation	SNP	ENST00000270645.3	37	CCDS12771.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.842697	0.51057	.	.	ENSG00000142552	ENST00000270645	T	0.54866	0.55	5.05	2.87	0.33458	EF-hand-like domain (1);	0.193687	0.44285	N	0.000463	T	0.34221	0.0890	L	0.28556	0.865	0.29175	N	0.876848	B	0.02656	0.0	B	0.04013	0.001	T	0.18398	-1.0338	10	0.20046	T	0.44	-30.6184	6.9031	0.24293	0.3799:0.0:0.6201:0.0	.	173	Q96D15	RCN3_HUMAN	Q	173	ENSP00000270645:R173Q	ENSP00000270645:R173Q	R	+	2	0	RCN3	54732174	0.998000	0.40836	0.999000	0.59377	0.919000	0.55068	1.012000	0.29924	0.496000	0.27904	0.313000	0.20887	CGG		0.587	RCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465261.1	NM_020650	
NOSIP	51070	broad.mit.edu	37	19	50063217	50063217	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:50063217C>T	ENST00000596358.1	-	3	208	c.150G>A	c.(148-150)ctG>ctA	p.L50L	NOSIP_ENST00000391853.3_Silent_p.L50L|NOSIP_ENST00000339093.3_Silent_p.L50L	NM_001270960.1	NP_001257889.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	50					negative regulation of catalytic activity (GO:0043086)|negative regulation of nitric-oxide synthase activity (GO:0051001)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.L50L(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		GGCAAGGCTGCAGGGAGAGAC	0.622																																					p.L50L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G150A	19						.						114.0	82.0	93.0					19																	50063217		2203	4300	6503	54755029	SO:0001819	synonymous_variant	51070	exon4			AF132959	CCDS12772.1	19q13.3	2008-02-05				ENSG00000142546			17946	protein-coding gene	gene with protein product						11149895, 10810093	Standard	NM_015953		Approved	CGI-25	uc002pol.4	Q9Y314		ENST00000596358.1:c.150G>A	19.37:g.50063217C>T			54755029	NM_015953	Q96FD2	Silent	SNP	ENST00000596358.1	37	CCDS12772.1																																																																																				0.622	NOSIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465423.1		
ZNF473	25888	broad.mit.edu	37	19	50549893	50549893	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:50549893A>G	ENST00000595661.1	+	6	2688	c.2193A>G	c.(2191-2193)gtA>gtG	p.V731V	ZNF473_ENST00000391821.2_Silent_p.V731V|ZNF473_ENST00000445728.3_Silent_p.V719V|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000270617.3_Silent_p.V731V|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000601364.1_Intron			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	731					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V731V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		AGCCCTATGTATGTGATTACT	0.502											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.V731V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2193G	19						.						89.0	93.0	92.0					19																	50549893		2203	4300	6503	55241705	SO:0001819	synonymous_variant	25888	exon5			AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.2193A>G	19.37:g.50549893A>G		970	55241705	NM_001006656	A8K8T7|Q9ULS9|Q9Y4Q7	Silent	SNP	ENST00000595661.1	37	CCDS33077.1																																																																																				0.502	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390	
KCNC3	3748	broad.mit.edu	37	19	50826885	50826885	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:50826885C>T	ENST00000477616.1	-	2	1619	c.1325G>A	c.(1324-1326)cGc>cAc	p.R442H	KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000376959.2_Missense_Mutation_p.R442H	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	442					cell death (GO:0008219)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axolemma (GO:0030673)|axon terminus (GO:0043679)|dendrite membrane (GO:0032590)|neuromuscular junction (GO:0031594)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)	p.R442H(1)		endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	Dalfampridine(DB06637)	GGTGCTGGCGCGGAGCGTGTG	0.642																																					p.R442H	Melanoma(91;1496 2324 50908)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1325A	19						.						64.0	65.0	65.0					19																	50826885		2203	4300	6503	55518697	SO:0001583	missense	3748	exon2			AB208930	CCDS12793.1	19q13.33	2014-09-17			ENSG00000131398	ENSG00000131398		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6235	protein-coding gene	gene with protein product		176264	"""spinocerebellar ataxia 13"""	SCA13		1740329, 8111118, 16382104	Standard	NM_004977		Approved	Kv3.3	uc002pru.1	Q14003	OTTHUMG00000044580	ENST00000477616.1:c.1325G>A	19.37:g.50826885C>T	ENSP00000434241:p.Arg442His		55518697	NM_004977		Missense_Mutation	SNP	ENST00000477616.1	37	CCDS12793.1	.	.	.	.	.	.	.	.	.	.	c	19.77	3.888426	0.72524	.	.	ENSG00000131398	ENST00000376959;ENST00000477616;ENST00000443843	D;D	0.98567	-5.0;-5.0	3.19	3.19	0.36642	Ion transport (1);	0.000000	0.64402	U	0.000003	D	0.98403	0.9469	M	0.74881	2.28	0.80722	D	1	D;P	0.89917	1.0;0.954	D;P	0.85130	0.997;0.842	D	0.98304	1.0520	10	0.87932	D	0	.	8.4147	0.32664	0.0:0.8794:0.0:0.1206	.	442;442	Q14003;E7ETH1	KCNC3_HUMAN;.	H	442;442;256	ENSP00000366158:R442H;ENSP00000434241:R442H	ENSP00000366158:R442H	R	-	2	0	KCNC3	55518697	1.000000	0.71417	0.751000	0.31187	0.963000	0.63663	4.674000	0.61612	1.809000	0.52856	0.486000	0.48141	CGC		0.642	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314288.2	NM_004977	
SHANK1	50944	broad.mit.edu	37	19	51201202	51201202	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:51201202C>T	ENST00000293441.1	-	12	1777	c.1759G>A	c.(1759-1761)Ggg>Agg	p.G587R	SHANK1_ENST00000359082.3_Missense_Mutation_p.G587R|SHANK1_ENST00000391814.1_Missense_Mutation_p.G587R	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	587	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|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)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)	p.G587R(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCTCCTTCCCCGATGCTAAGT	0.547																																					p.G587R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1759A	19						.						81.0	71.0	74.0					19																	51201202		2203	4300	6503	55893014	SO:0001583	missense	50944	exon12			AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.1759G>A	19.37:g.51201202C>T	ENSP00000293441:p.Gly587Arg		55893014	NM_016148	A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.891367	0.52014	.	.	ENSG00000161681	ENST00000293441;ENST00000359082;ENST00000391814	T;T;T	0.07908	3.15;3.15;3.15	3.42	3.42	0.39159	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.64402	U	0.000004	T	0.25082	0.0609	M	0.64170	1.965	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	T	0.02698	-1.1122	10	0.87932	D	0	-17.2992	14.1666	0.65480	0.0:1.0:0.0:0.0	.	587	Q9Y566	SHAN1_HUMAN	R	587	ENSP00000293441:G587R;ENSP00000351984:G587R;ENSP00000375690:G587R	ENSP00000293441:G587R	G	-	1	0	SHANK1	55893014	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.640000	0.74319	1.917000	0.55516	0.457000	0.33378	GGG		0.547	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148	
SIGLEC12	89858	broad.mit.edu	37	19	51994937	51994937	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:51994937C>A	ENST00000291707.3	-	8	1801	c.1746G>T	c.(1744-1746)gaG>gaT	p.E582D	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.E464D	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	582					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.E582D(1)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AGCCGATGGCCTCCTGTTCCT	0.592																																					p.E464D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1392T	19						.						119.0	103.0	108.0					19																	51994937		2203	4300	6503	56686749	SO:0001583	missense	89858	exon7			AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.1746G>T	19.37:g.51994937C>A	ENSP00000291707:p.Glu582Asp		56686749	NM_033329	Q8IYH7	Missense_Mutation	SNP	ENST00000291707.3	37	CCDS12833.1	.	.	.	.	.	.	.	.	.	.	.	7.846	0.722870	0.15439	.	.	ENSG00000254521	ENST00000291707	T	0.06849	3.25	2.68	0.0391	0.14203	.	.	.	.	.	T	0.10121	0.0248	M	0.66939	2.045	0.09310	N	1	P;B	0.50710	0.938;0.137	B;B	0.43251	0.413;0.099	T	0.23119	-1.0197	9	0.72032	D	0.01	.	4.4953	0.11833	0.2585:0.4884:0.2531:0.0	.	582;464	Q96PQ1;Q96PQ1-2	SIG12_HUMAN;.	D	582	ENSP00000291707:E582D	ENSP00000291707:E582D	E	-	3	2	SIGLEC12	56686749	0.000000	0.05858	0.002000	0.10522	0.015000	0.08874	-0.315000	0.08081	0.449000	0.26747	0.558000	0.71614	GAG		0.592	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003	
CATSPERD	257062	broad.mit.edu	37	19	5751780	5751780	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:5751780C>T	ENST00000381624.3	+	12	1171	c.1110C>T	c.(1108-1110)ctC>ctT	p.L370L	CATSPERD_ENST00000381614.2_Silent_p.L28L	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	370					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)		p.L370L(1)									AGAAGTGCCTCGTGAATATCC	0.478																																					p.L370L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1110T	19						.						65.0	61.0	63.0					19																	5751780		1888	4112	6000	5702780	SO:0001819	synonymous_variant	257062	exon12			BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.1110C>T	19.37:g.5751780C>T			5702780	NM_152784	Q6ZRP1	Silent	SNP	ENST00000381624.3	37	CCDS12149.2																																																																																				0.478	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784	
SIGLEC12	89858	broad.mit.edu	37	19	52003466	52003466	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:52003466A>G	ENST00000291707.3	-	2	571	c.516T>C	c.(514-516)agT>agC	p.S172S	SIGLEC12_ENST00000598614.1_Silent_p.S54S	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	172	Ig-like V-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.S172S(1)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GGTAAAGGACACTGCAGGGCA	0.547																																					p.S54S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T162C	19						.						135.0	119.0	124.0					19																	52003466		2203	4300	6503	56695278	SO:0001819	synonymous_variant	89858	exon1			AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.516T>C	19.37:g.52003466A>G			56695278	NM_033329	Q8IYH7	Silent	SNP	ENST00000291707.3	37	CCDS12833.1																																																																																				0.547	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003	
ZNF616	90317	broad.mit.edu	37	19	52620001	52620001	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:52620001T>G	ENST00000600228.1	-	4	677	c.416A>C	c.(415-417)cAg>cCg	p.Q139P	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	139					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q139P(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TGATGTAAGCTGGTTTTCAAT	0.373																																					p.Q139P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A416C	19						.						204.0	183.0	190.0					19																	52620001		2202	4300	6502	57311813	SO:0001583	missense	90317	exon4			AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.416A>C	19.37:g.52620001T>G	ENSP00000471000:p.Gln139Pro		57311813	NM_178523	B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	T	11.97	1.799019	0.31777	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.81	-3.62	0.04543	.	.	.	.	.	T	0.31638	0.0803	M	0.70275	2.135	0.09310	N	1	D	0.57571	0.98	P	0.46275	0.51	T	0.14671	-1.0464	8	0.32370	T	0.25	.	0.6516	0.00828	0.1837:0.1874:0.183:0.4459	.	139	Q08AN1	ZN616_HUMAN	P	139	.	ENSP00000328722:Q139P	Q	-	2	0	ZNF616	57311813	0.000000	0.05858	0.000000	0.03702	0.242000	0.25591	-1.084000	0.03393	-0.937000	0.03719	0.254000	0.18369	CAG		0.373	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892	
ZNF578	147660	broad.mit.edu	37	19	53013839	53013839	+	Missense_Mutation	SNP	C	C	T	rs550019604	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:53013839C>T	ENST00000421239.2	+	6	449	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	69	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R69C(1)							GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		CTCTTCCAAACGCATGATGAA	0.363													c|||	2	0.000399361	0.0008	0.0014	5008	,	,		19756	0.0		0.0	False		,,,				2504	0.0				p.R69C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C205T	19						.						126.0	129.0	128.0					19																	53013839		2203	4299	6502	57705651	SO:0001583	missense	147660	exon6			AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.205C>T	19.37:g.53013839C>T	ENSP00000459216:p.Arg69Cys		57705651	NM_001099694	B4DR51|I3L1Y6	Missense_Mutation	SNP	ENST00000421239.2	37	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	-	2.794	-0.250653	0.05867	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.48	-1.24	0.09435	.	.	.	.	.	T	0.08758	0.0217	N	0.01576	-0.805	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.33650	-0.9860	7	.	.	.	.	4.4451	0.11593	0.0:0.4341:0.0:0.5659	.	69	G3V4F6	.	C	69	.	.	R	+	1	0	ZNF578	57705651	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-2.388000	0.01059	-0.688000	0.05155	-1.535000	0.00915	CGC		0.363	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472	
ZNF611	81856	broad.mit.edu	37	19	53208446	53208446	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:53208446G>A	ENST00000319783.1	-	7	2178	c.1862C>T	c.(1861-1863)cCt>cTt	p.P621L	ZNF611_ENST00000602162.1_Missense_Mutation_p.P552L|ZNF611_ENST00000540744.1_Missense_Mutation_p.P621L|ZNF611_ENST00000543227.1_Missense_Mutation_p.P621L|ZNF611_ENST00000453741.2_Missense_Mutation_p.P552L|ZNF611_ENST00000595798.1_Missense_Mutation_p.P552L	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	621					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P621L(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		ACACTTGTAAGGTTTCTCACC	0.423																																					p.P552L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1655T	19						.						227.0	213.0	218.0					19																	53208446		2203	4300	6503	57900258	SO:0001583	missense	81856	exon5			AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.1862C>T	19.37:g.53208446G>A	ENSP00000322427:p.Pro621Leu		57900258	NM_001161501	B3KRD5|Q69YG9	Missense_Mutation	SNP	ENST00000319783.1	37	CCDS12855.1	.	.	.	.	.	.	.	.	.	.	.	13.30	2.197000	0.38806	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	1.54	1.54	0.23209	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20780	0.0500	L	0.60904	1.88	0.36579	D	0.873434	P	0.42483	0.781	B	0.44044	0.439	T	0.29305	-1.0016	9	0.72032	D	0.01	.	10.0475	0.42195	0.0:0.0:1.0:0.0	.	621	Q8N823	ZN611_HUMAN	L	621;621;552;621	ENSP00000437616:P621L;ENSP00000439211:P621L;ENSP00000443505:P552L;ENSP00000322427:P621L	ENSP00000322427:P621L	P	-	2	0	ZNF611	57900258	0.437000	0.25593	0.660000	0.29694	0.365000	0.29674	1.727000	0.38095	0.830000	0.34757	0.306000	0.20318	CCT		0.423	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972	
ZNF28	7576	broad.mit.edu	37	19	53304226	53304226	+	Missense_Mutation	SNP	G	G	A	rs181082124	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:53304226G>A	ENST00000457749.2	-	4	991	c.872C>T	c.(871-873)gCg>gTg	p.A291V	ZNF28_ENST00000438150.2_Missense_Mutation_p.A238V|ZNF28_ENST00000414252.2_Missense_Mutation_p.A238V|ZNF28_ENST00000360272.4_Missense_Mutation_p.A238V	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	291					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A238V(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		AGTATGAAGCGCCTTGTGAAG	0.403													-|||	2	0.000399361	0.0	0.0029	5008	,	,		21310	0.0		0.0	False		,,,				2504	0.0				p.A291V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C872T	19						.						152.0	142.0	146.0					19																	53304226		2203	4300	6503	57996038	SO:0001583	missense	7576	exon4			X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.872C>T	19.37:g.53304226G>A	ENSP00000397693:p.Ala291Val		57996038	NM_006969	A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	CCDS33093.2	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	-	7.437	0.639842	0.14386	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48	1.2	-0.341	0.12639	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05868	0.0153	L	0.29908	0.895	0.09310	N	1	B	0.32731	0.382	B	0.19666	0.026	T	0.18524	-1.0334	9	0.66056	D	0.02	.	8.7689	0.34719	0.0:0.3227:0.6772:0.0	.	291	P17035	ZNF28_HUMAN	V	238;291;238;238;238	ENSP00000412143:A238V;ENSP00000397693:A291V;ENSP00000353410:A238V;ENSP00000444965:A238V;ENSP00000375661:A238V	ENSP00000353410:A238V	A	-	2	0	ZNF28	57996038	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-2.708000	0.00819	-0.375000	0.07955	0.186000	0.17326	GCG		0.403	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969	
ZNF677	342926	broad.mit.edu	37	19	53747126	53747126	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:53747126C>T	ENST00000598513.1	-	4	190	c.40G>A	c.(40-42)Gcc>Acc	p.A14T	ZNF677_ENST00000333952.4_Missense_Mutation_p.A14T|ZNF677_ENST00000598806.1_Missense_Mutation_p.A14T|CTD-2245F17.6_ENST00000596041.1_RNA|ZNF677_ENST00000601828.1_Missense_Mutation_p.A14T|ZNF677_ENST00000599012.1_Missense_Mutation_p.A14T|ZNF677_ENST00000601413.1_Missense_Mutation_p.A14T|ZNF677_ENST00000594681.1_Missense_Mutation_p.A14T	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	14	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A14T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		AATTCTATGGCCACATCCTTG	0.458																																					p.A14T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G40A	19						.						88.0	83.0	85.0					19																	53747126		2203	4300	6503	58438938	SO:0001583	missense	342926	exon4			BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"""Zinc fingers, C2H2-type"", ""-"""	28730	protein-coding gene	gene with protein product	"""hypothetical protein MGC48625"""					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.40G>A	19.37:g.53747126C>T	ENSP00000469391:p.Ala14Thr		58438938	NM_182609		Missense_Mutation	SNP	ENST00000598513.1	37	CCDS12861.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828934	0.50845	.	.	ENSG00000197928	ENST00000416063;ENST00000333952	T	0.03065	4.06	1.9	0.846	0.18955	Krueppel-associated box (4);	0.000000	0.33438	N	0.004911	T	0.05364	0.0142	M	0.81497	2.545	0.22684	N	0.998852	B	0.11235	0.004	B	0.15052	0.012	T	0.31998	-0.9923	10	0.66056	D	0.02	.	2.6305	0.04942	0.2804:0.5475:0.0:0.1721	.	14	Q86XU0	ZN677_HUMAN	T	14	ENSP00000334394:A14T	ENSP00000334394:A14T	A	-	1	0	ZNF677	58438938	0.365000	0.25006	0.990000	0.47175	0.989000	0.77384	-0.160000	0.10041	0.365000	0.24400	-0.448000	0.05591	GCC		0.458	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609	
LENG1	79165	broad.mit.edu	37	19	54660588	54660588	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:54660588T>A	ENST00000222224.3	-	3	674	c.488A>T	c.(487-489)cAt>cTt	p.H163L		NM_024316.1	NP_077292.1	Q96BZ8	LENG1_HUMAN	leukocyte receptor cluster (LRC) member 1	163								p.H163L(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	8	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTTCCCCAGATGCTTCTGCAT	0.627																																					p.H163L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A488T	19						.						82.0	79.0	80.0					19																	54660588		2203	4300	6503	59352400	SO:0001583	missense	79165	exon3			AF211966	CCDS12881.1	19q13.4	2008-02-05			ENSG00000105617	ENSG00000105617			15502	protein-coding gene	gene with protein product						10941842	Standard	NM_024316		Approved		uc002qdm.3	Q96BZ8	OTTHUMG00000066486	ENST00000222224.3:c.488A>T	19.37:g.54660588T>A	ENSP00000222224:p.His163Leu		59352400	NM_024316	Q9HCU7	Missense_Mutation	SNP	ENST00000222224.3	37	CCDS12881.1	.	.	.	.	.	.	.	.	.	.	T	17.72	3.458761	0.63401	.	.	ENSG00000105617	ENST00000222224	T	0.44083	0.93	5.67	5.67	0.87782	.	0.634572	0.16924	N	0.193951	T	0.31857	0.0810	L	0.34521	1.04	0.40397	D	0.979601	P	0.47910	0.902	B	0.38225	0.268	T	0.10132	-1.0643	10	0.21540	T	0.41	-17.9993	15.2129	0.73241	0.0:0.0:0.0:1.0	.	163	Q96BZ8	LENG1_HUMAN	L	163	ENSP00000222224:H163L	ENSP00000222224:H163L	H	-	2	0	LENG1	59352400	0.931000	0.31567	0.841000	0.33234	0.984000	0.73092	2.998000	0.49465	2.298000	0.77334	0.496000	0.49642	CAT		0.627	LENG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142159.1	NM_024316	
BRSK1	84446	broad.mit.edu	37	19	55817761	55817761	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:55817761C>T	ENST00000309383.1	+	17	2309	c.2032C>T	c.(2032-2034)Cga>Tga	p.R678*	BRSK1_ENST00000326848.7_Nonsense_Mutation_p.R373*|BRSK1_ENST00000590333.1_Nonsense_Mutation_p.R694*	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	678					axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.R678*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GCCCTCCCCGCGACGGGACGG	0.652																																					p.R678X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C2032T	19						.						87.0	72.0	77.0					19																	55817761		2203	4300	6503	60509573	SO:0001587	stop_gained	84446	exon17			AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.2032C>T	19.37:g.55817761C>T	ENSP00000310649:p.Arg678*		60509573	NM_032430	F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Nonsense_Mutation	SNP	ENST00000309383.1	37	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	28.7	4.940094	0.92526	.	.	ENSG00000160469	ENST00000309383;ENST00000543410;ENST00000326848	.	.	.	5.3	-1.78	0.07957	.	0.482878	0.17547	N	0.170339	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	16.6333	0.85039	0.571:0.429:0.0:0.0	.	.	.	.	X	678;373;373	.	ENSP00000310649:R678X	R	+	1	2	BRSK1	60509573	0.013000	0.17824	0.001000	0.08648	0.373000	0.29922	0.424000	0.21330	0.009000	0.14813	-1.485000	0.00982	CGA		0.652	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430	
MLLT1	4298	broad.mit.edu	37	19	6230669	6230669	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:6230669T>C	ENST00000252674.7	-	4	495	c.332A>G	c.(331-333)aAc>aGc	p.N111S		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	111	YEATS. {ECO:0000255|PROSITE- ProRule:PRU00376}.				negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)	p.N111S(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						CACGGGCGGGTTGCCTTCCAG	0.607			T	MLL	AL																																p.N111S			Dom	yes		19	19p13.3	4298	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A332G	19						.						176.0	175.0	175.0					19																	6230669		2203	4300	6503	6181669	SO:0001583	missense	4298	exon4				CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"""				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.332A>G	19.37:g.6230669T>C	ENSP00000252674:p.Asn111Ser		6181669	NM_005934	Q14768	Missense_Mutation	SNP	ENST00000252674.7	37	CCDS12160.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.939396	0.73557	.	.	ENSG00000130382	ENST00000252674	.	.	.	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.61375	0.2342	L	0.40543	1.245	0.58432	D	0.999993	B	0.20550	0.046	B	0.38712	0.28	T	0.63238	-0.6682	9	0.59425	D	0.04	-54.6589	13.1576	0.59527	0.0:0.0:0.0:1.0	.	111	Q03111	ENL_HUMAN	S	111	.	ENSP00000252674:N111S	N	-	2	0	MLLT1	6181669	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	7.727000	0.84838	1.966000	0.57179	0.533000	0.62120	AAC		0.607	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934	
NLRP11	204801	broad.mit.edu	37	19	56320357	56320357	+	Missense_Mutation	SNP	G	G	A	rs374796362		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:56320357G>A	ENST00000589093.1	-	3	1712	c.1619C>T	c.(1618-1620)aCg>aTg	p.T540M	NLRP11_ENST00000443188.1_Missense_Mutation_p.T540M|NLRP11_ENST00000592953.1_Missense_Mutation_p.T441M|NLRP11_ENST00000589824.2_Missense_Mutation_p.T540M|NLRP11_ENST00000360133.3_Missense_Mutation_p.T540M			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	540							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)	p.T540M(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CATATGGTGCGTCAACTTTTC	0.448																																					p.T540M												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C1619T	19						.	G	MET/THR	0,4406		0,0,2203	163.0	151.0	155.0		1619	-4.0	0.0	19		155	1,8599	1.2+/-3.3	0,1,4299	no	missense	NLRP11	NM_145007.3	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	540/1034	56320357	1,13005	2203	4300	6503	61012169	SO:0001583	missense	204801	exon5			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.1619C>T	19.37:g.56320357G>A	ENSP00000466285:p.Thr540Met		61012169	NM_145007	C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	G	2.480	-0.319809	0.05386	0.0	1.16E-4	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.74002	-0.8;-0.74	1.99	-3.99	0.04069	.	.	.	.	.	T	0.51176	0.1659	N	0.22421	0.69	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.17098	0.007;0.017	T	0.24870	-1.0148	9	0.37606	T	0.19	.	0.2614	0.00219	0.3264:0.2693:0.1804:0.224	.	540;540	P59045;P59045-2	NAL11_HUMAN;.	M	540	ENSP00000409898:T540M;ENSP00000353251:T540M	ENSP00000353251:T540M	T	-	2	0	NLRP11	61012169	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.189000	0.00277	-1.949000	0.01031	-1.153000	0.01818	ACG		0.448	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007	
USP29	57663	broad.mit.edu	37	19	57642593	57642593	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:57642593G>A	ENST00000254181.4	+	4	3004	c.2550G>A	c.(2548-2550)aaG>aaA	p.K850K	USP29_ENST00000598197.1_Silent_p.K850K|U3_ENST00000516874.1_RNA	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	850	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.K850K(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACTTTCAGAAGCAGGCCTGGT	0.478																																					p.K850K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2550A	19						.						79.0	72.0	75.0					19																	57642593		2203	4300	6503	62334405	SO:0001819	synonymous_variant	57663	exon4				CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.2550G>A	19.37:g.57642593G>A			62334405	NM_020903		Silent	SNP	ENST00000254181.4	37	CCDS33124.1																																																																																				0.478	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1		
ZIM3	114026	broad.mit.edu	37	19	57647132	57647132	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:57647132A>G	ENST00000269834.1	-	5	958	c.573T>C	c.(571-573)tgT>tgC	p.C191C	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	191					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C191C(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGGGTTTTTGACAGGCATGCC	0.423																																					p.C191C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T573C	19						.						160.0	153.0	156.0					19																	57647132		2203	4300	6503	62338944	SO:0001819	synonymous_variant	114026	exon5			AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.573T>C	19.37:g.57647132A>G			62338944	NM_052882	Q14CA6	Silent	SNP	ENST00000269834.1	37	CCDS33125.1																																																																																				0.423	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1		
ZIM3	114026	broad.mit.edu	37	19	57649841	57649841	+	Splice_Site	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:57649841C>T	ENST00000269834.1	-	3	526	c.141G>A	c.(139-141)gtG>gtA	p.V47V		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	47	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V47V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CGTCCTTACCCACAGAGACAA	0.557																																					p.V47V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G141A	19						.						98.0	84.0	89.0					19																	57649841		2203	4300	6503	62341653	SO:0001630	splice_region_variant	114026	exon3			AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.142+1G>A	19.37:g.57649841C>T			62341653	NM_052882	Q14CA6	Silent	SNP	ENST00000269834.1	37	CCDS33125.1																																																																																				0.557	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1		Silent
ZNF264	9422	broad.mit.edu	37	19	57723972	57723972	+	Missense_Mutation	SNP	C	C	T	rs201494065		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:57723972C>T	ENST00000263095.6	+	4	1921	c.1507C>T	c.(1507-1509)Cgg>Tgg	p.R503W	ZNF264_ENST00000536056.1_Missense_Mutation_p.R503W	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	503					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.R503W(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		GAGGCACAAGCGGATTCATAG	0.527													c|||	1	0.000199681	0.0	0.0	5008	,	,		20463	0.001		0.0	False		,,,				2504	0.0				p.R503W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1507T	19						.						64.0	66.0	66.0					19																	57723972		2203	4300	6503	62415784	SO:0001583	missense	9422	exon4			AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"""Zinc fingers, C2H2-type"", ""-"""	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.1507C>T	19.37:g.57723972C>T	ENSP00000263095:p.Arg503Trp		62415784	NM_003417	A8K8Y9|Q9P1V0	Missense_Mutation	SNP	ENST00000263095.6	37	CCDS33127.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.27	2.784011	0.49891	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	T;T	0.25579	1.79;1.79	2.26	2.26	0.28386	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.55226	0.1907	M	0.88310	2.945	0.30059	N	0.811044	D	0.89917	1.0	D	0.97110	1.0	T	0.57447	-0.7810	9	0.87932	D	0	.	12.2362	0.54516	0.0:1.0:0.0:0.0	.	503	O43296	ZN264_HUMAN	W	503	ENSP00000263095:R503W;ENSP00000440376:R503W	ENSP00000263095:R503W	R	+	1	2	ZNF264	62415784	0.000000	0.05858	0.960000	0.40013	0.882000	0.50991	0.408000	0.21065	1.589000	0.49982	0.491000	0.48974	CGG		0.527	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1		
ZNF304	57343	broad.mit.edu	37	19	57865213	57865213	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:57865213A>G	ENST00000282286.5	+	2	327	c.154A>G	c.(154-156)Aca>Gca	p.T52A	ZNF304_ENST00000443917.2_Missense_Mutation_p.T52A|CTC-444N24.13_ENST00000597973.1_RNA|ZNF304_ENST00000391705.3_Missense_Mutation_p.T52A|ZNF304_ENST00000598744.1_Missense_Mutation_p.T10A			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	52	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T52A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		ACTTGTGGCTACACTAGGTAA	0.423																																					p.T52A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A154G	19						.						217.0	166.0	183.0					19																	57865213		2203	4300	6503	62557025	SO:0001583	missense	57343	exon2			AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"""Zinc fingers, C2H2-type"", ""-"""	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.154A>G	19.37:g.57865213A>G	ENSP00000282286:p.Thr52Ala		62557025	NM_020657		Missense_Mutation	SNP	ENST00000282286.5	37	CCDS12950.1	.	.	.	.	.	.	.	.	.	.	A	14.11	2.436209	0.43224	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.01572	4.76;4.76;5.73	3.49	1.34	0.21922	Krueppel-associated box (4);	.	.	.	.	T	0.00815	0.0027	N	0.01505	-0.83	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.47947	-0.9077	9	0.54805	T	0.06	.	3.3642	0.07198	0.3554:0.0:0.1486:0.496	.	52;52	Q9HCX3;E7EQD3	ZN304_HUMAN;.	A	52	ENSP00000282286:T52A;ENSP00000375586:T52A;ENSP00000401642:T52A	ENSP00000282286:T52A	T	+	1	0	ZNF304	62557025	0.013000	0.17824	0.001000	0.08648	0.859000	0.49053	0.618000	0.24373	0.208000	0.20626	0.455000	0.32223	ACA		0.423	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1		
ZNF548	147694	broad.mit.edu	37	19	57911190	57911190	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:57911190A>G	ENST00000366197.5	+	3	1785	c.1535A>G	c.(1534-1536)aAt>aGt	p.N512S	AC003002.6_ENST00000596400.1_Intron|AC003002.6_ENST00000600421.1_Intron|AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.N524S	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	512					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.N524S(1)		breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AATGTGGGGAATTCTTTAGCT	0.383																																					p.N512S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1535G	19						.						56.0	55.0	55.0					19																	57911190		1950	4189	6139	62603002	SO:0001583	missense	147694	exon3			AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.1535A>G	19.37:g.57911190A>G	ENSP00000379482:p.Asn512Ser		62603002	NM_152909	Q96M05	Missense_Mutation	SNP	ENST00000366197.5	37	CCDS46209.1	.	.	.	.	.	.	.	.	.	.	A	9.825	1.186827	0.21870	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	T;T	0.05025	3.51;3.53	2.78	-5.56	0.02529	.	.	.	.	.	T	0.03608	0.0103	N	0.25647	0.755	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.001	T	0.40590	-0.9555	9	0.87932	D	0	.	1.2912	0.02060	0.3263:0.1144:0.334:0.2253	.	524;512	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	S	524;512	ENSP00000337555:N524S;ENSP00000379482:N512S	ENSP00000337555:N524S	N	+	2	0	ZNF548	62603002	0.000000	0.05858	0.000000	0.03702	0.569000	0.35902	-1.126000	0.03254	-2.658000	0.00420	-0.242000	0.12053	AAT		0.383	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909	
ZNF134	7693	broad.mit.edu	37	19	58132682	58132682	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:58132682C>T	ENST00000396161.5	+	3	1505	c.1195C>T	c.(1195-1197)Cca>Tca	p.P399S		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	399					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P399S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TGGAGAAAGGCCATATGAGTG	0.488																																					p.P399S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1195T	19						.						117.0	121.0	120.0					19																	58132682		2203	4300	6503	62824494	SO:0001583	missense	7693	exon3			U09412	CCDS42638.1	19q13.4	2013-01-08	2006-06-13			ENSG00000213762		"""Zinc fingers, C2H2-type"""	12918	protein-coding gene	gene with protein product		604076	"""zinc finger protein 134 (clone pHZ-15)"""			7557990	Standard	NM_003435		Approved	pHZ-15	uc002qpn.2	P52741		ENST00000396161.5:c.1195C>T	19.37:g.58132682C>T	ENSP00000379464:p.Pro399Ser		62824494	NM_003435	Q9Y4B2	Missense_Mutation	SNP	ENST00000396161.5	37	CCDS42638.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578432	0.65878	.	.	ENSG00000213762	ENST00000418193;ENST00000541849;ENST00000396161	T	0.16743	2.32	4.09	3.0	0.34707	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29620	0.0739	L	0.45581	1.43	0.27971	N	0.936414	D	0.67145	0.996	P	0.58331	0.837	T	0.08330	-1.0727	9	0.87932	D	0	.	12.7057	0.57060	0.0:0.8317:0.1683:0.0	.	399	P52741	ZN134_HUMAN	S	466;319;399	ENSP00000379464:P399S	ENSP00000379464:P399S	P	+	1	0	ZNF134	62824494	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	3.987000	0.56944	0.988000	0.38734	0.563000	0.77884	CCA		0.488	ZNF134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466808.1	NM_003435	
ZNF671	79891	broad.mit.edu	37	19	58232650	58232650	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:58232650G>A	ENST00000317398.6	-	4	899	c.804C>T	c.(802-804)ccC>ccT	p.P268P	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF671_ENST00000335820.3_Silent_p.P170P|ZNF671_ENST00000594803.1_5'Flank	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	268					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.P268P(1)		kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGCTCTTGTGGGGCTTCATGC	0.522																																					p.P268P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C804T	19						.						76.0	71.0	72.0					19																	58232650		2203	4300	6503	62924462	SO:0001819	synonymous_variant	79891	exon4				CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"""Zinc fingers, C2H2-type"", ""-"""	26279	protein-coding gene	gene with protein product	"""hypothetical protein FLJ23506"""					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.804C>T	19.37:g.58232650G>A			62924462	NM_024833	A6NF07|Q9H5E9	Silent	SNP	ENST00000317398.6	37	CCDS12961.1																																																																																				0.522	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1	NM_024833	
ZNF256	10172	broad.mit.edu	37	19	58455371	58455371	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:58455371G>T	ENST00000282308.3	-	2	287	c.91C>A	c.(91-93)Ctt>Att	p.L31I	ZNF256_ENST00000598928.1_Intron	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	31	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L31I(2)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		GCCTCATCAAGAAGACCCCAC	0.537																																					p.L31I	NSCLC(55;1313 1552 8040 11996)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C91A	19						.						203.0	162.0	176.0					19																	58455371		2203	4300	6503	63147183	SO:0001583	missense	10172	exon2			AF067165	CCDS12966.1	19q13	2013-01-08				ENSG00000152454		"""Zinc fingers, C2H2-type"", ""-"""	13049	protein-coding gene	gene with protein product		606956					Standard	NM_005773		Approved	BMZF-3	uc002qqu.3	Q9Y2P7		ENST00000282308.3:c.91C>A	19.37:g.58455371G>T	ENSP00000282308:p.Leu31Ile		63147183	NM_005773	B2RA92|Q53Y85|Q9BV71	Missense_Mutation	SNP	ENST00000282308.3	37	CCDS12966.1	.	.	.	.	.	.	.	.	.	.	.	13.82	2.349937	0.41599	.	.	ENSG00000152454	ENST00000282308	T	0.18657	2.2	2.64	2.64	0.31445	Krueppel-associated box (4);	.	.	.	.	T	0.51907	0.1702	H	0.98559	4.265	0.09310	N	1	D	0.55385	0.971	P	0.54544	0.755	T	0.52396	-0.8581	9	0.87932	D	0	.	6.8895	0.24222	0.0:0.0:0.7249:0.2751	.	31	Q9Y2P7	ZN256_HUMAN	I	31	ENSP00000282308:L31I	ENSP00000282308:L31I	L	-	1	0	ZNF256	63147183	0.778000	0.28640	0.014000	0.15608	0.032000	0.12392	1.574000	0.36482	1.772000	0.52199	0.563000	0.77884	CTT		0.537	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466702.1		
GTF2F1	2962	broad.mit.edu	37	19	6380335	6380335	+	Missense_Mutation	SNP	C	C	T	rs146571246		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:6380335C>T	ENST00000394456.5	-	13	1975	c.1511G>A	c.(1510-1512)cGc>cAc	p.R504H	GTF2F1_ENST00000429701.2_Missense_Mutation_p.R419H|PSPN_ENST00000597721.1_5'Flank	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	504					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	catalytic activity (GO:0003824)|DNA binding (GO:0003677)|phosphatase activator activity (GO:0019211)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.R504H(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						GATCATCTTGCGCTCGGGGTT	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		22108	0.0		0.001	False		,,,				2504	0.0				p.R504H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1511A	19						.	C	HIS/ARG	0,4406		0,0,2203	236.0	214.0	222.0		1511	1.3	1.0	19	dbSNP_134	222	3,8597	3.0+/-9.4	0,3,4297	no	missense	GTF2F1	NM_002096.2	29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	504/518	6380335	3,13003	2203	4300	6503	6331335	SO:0001583	missense	2962	exon13				CCDS12165.1	19p13.3	2010-03-23	2002-08-29		ENSG00000125651	ENSG00000125651		"""General transcription factors"""	4652	protein-coding gene	gene with protein product		189968	"""general transcription factor IIF, polypeptide 1 (74kD subunit)"""			1734284	Standard	NM_002096		Approved	TFIIF, BTF4, RAP74, TF2F1	uc002meq.2	P35269	OTTHUMG00000168087	ENST00000394456.5:c.1511G>A	19.37:g.6380335C>T	ENSP00000377969:p.Arg504His		6331335	NM_002096	B2RCS0|Q9BWN0	Missense_Mutation	SNP	ENST00000394456.5	37	CCDS12165.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260243	0.80246	0.0	3.49E-4	ENSG00000125651	ENST00000394456;ENST00000429701	T;T	0.49720	0.77;0.77	4.62	1.34	0.21922	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.065561	0.64402	N	0.000016	T	0.58850	0.2151	L	0.60455	1.87	0.53688	D	0.999976	D;P;P	0.89917	1.0;0.5;0.637	D;B;B	0.74348	0.983;0.096;0.142	T	0.57093	-0.7870	10	0.62326	D	0.03	-38.5289	8.9687	0.35892	0.0:0.7495:0.0:0.2505	.	419;402;504	E7EUG6;B4DDB5;P35269	.;.;T2FA_HUMAN	H	504;419	ENSP00000377969:R504H;ENSP00000392107:R419H	ENSP00000377969:R504H	R	-	2	0	GTF2F1	6331335	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	5.343000	0.65976	0.289000	0.22422	0.655000	0.94253	CGC		0.542	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398033.1	NM_002096	
ZSCAN1	284312	broad.mit.edu	37	19	58565135	58565135	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:58565135C>T	ENST00000282326.1	+	6	1190	c.943C>T	c.(943-945)Cgc>Tgc	p.R315C		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	315					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)	p.R315C(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GAAGACCCATCGCGAGGAAGG	0.642																																					p.R315C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C943T	19						.						72.0	64.0	66.0					19																	58565135		2203	4300	6503	63256947	SO:0001583	missense	284312	exon6			AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.943C>T	19.37:g.58565135C>T	ENSP00000282326:p.Arg315Cys		63256947	NM_182572	Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.635082	0.29068	.	.	ENSG00000152467	ENST00000282326	T	0.18502	2.21	1.22	-1.82	0.07857	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18215	0.0437	L	0.45051	1.395	0.09310	N	1	D	0.63880	0.993	P	0.50082	0.63	T	0.16041	-1.0416	9	0.72032	D	0.01	.	6.5837	0.22609	0.627:0.373:0.0:0.0	.	315	Q8NBB4	ZSCA1_HUMAN	C	315	ENSP00000282326:R315C	ENSP00000282326:R315C	R	+	1	0	ZSCAN1	63256947	0.000000	0.05858	0.000000	0.03702	0.599000	0.36880	-0.750000	0.04808	-0.439000	0.07222	0.313000	0.20887	CGC		0.642	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572	
PTBP1	5725	broad.mit.edu	37	19	804922	804922	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:804922G>A	ENST00000349038.4	+	7	773	c.700G>A	c.(700-702)Gcc>Acc	p.A234T	MIR4745_ENST00000577608.1_RNA|PTBP1_ENST00000394601.4_Missense_Mutation_p.A234T|PTBP1_ENST00000356948.6_Missense_Mutation_p.A234T|PTBP1_ENST00000350092.4_Intron	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	234	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)	p.A234T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCGTGAGCGCCCAGCACGC	0.652																																					p.A234T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G700A	19						.						73.0	68.0	70.0					19																	804922		2203	4300	6503	755922	SO:0001583	missense	5725	exon7			X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"""RNA binding motif (RRM) containing"""	9583	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein I"""	600693	"""polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"""	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.700G>A	19.37:g.804922G>A	ENSP00000014112:p.Ala234Thr		755922	NM_031991	Q9BUQ0	Missense_Mutation	SNP	ENST00000349038.4	37	CCDS32859.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.058900	0.76074	.	.	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038	T;T;T	0.80824	-1.42;-1.38;-1.02	4.94	2.81	0.32909	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.92280	0.7551	H	0.97732	4.065	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.988;0.993	D	0.92169	0.5742	10	0.87932	D	0	-50.1263	10.3619	0.43998	0.1598:0.0:0.8402:0.0	.	234;234;234	P26599;P26599-2;Q9BUQ0	PTBP1_HUMAN;.;.	T	234	ENSP00000349428:A234T;ENSP00000408096:A234T;ENSP00000014112:A234T	ENSP00000014112:A234T	A	+	1	0	PTBP1	755922	1.000000	0.71417	0.970000	0.41538	0.645000	0.38454	6.505000	0.73708	0.510000	0.28216	-0.136000	0.14681	GCC		0.652	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1		
CSNK1G2	1455	broad.mit.edu	37	19	1953917	1953917	+	Intron	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:1953917G>A	ENST00000255641.8	+	1	230				CSNK1G2-AS1_ENST00000586395.1_RNA|CSNK1G2-AS1_ENST00000314315.3_RNA	NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2						protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|peptide binding (GO:0042277)|protein serine/threonine kinase activity (GO:0004674)	p.R40C(1)		endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCGTGGGCGTCTCCGGTGC	0.632																																					.	Ovarian(91;880 1392 21236 36928 37598)											.	.	1	Substitution - Missense(1)	large_intestine(1)	.	19						.						97.0	106.0	103.0					19																	1953917		2164	4256	6420	1904917	SO:0001627	intron_variant	255193	.			AF001177	CCDS12077.1	19p13.3	2013-01-17			ENSG00000133275	ENSG00000133275			2455	protein-coding gene	gene with protein product		602214				9403068	Standard	NM_001319		Approved	CK1g2	uc002lul.4	P78368		ENST00000255641.8:c.-266+12500G>A	19.37:g.1953917G>A			1904917	.	B5BU42|O00704|Q8WUB1	Missense_Mutation	SNP	ENST00000255641.8	37	CCDS12077.1	.	.	.	.	.	.	.	.	.	.	g	2.327	-0.354257	0.05173	.	.	ENSG00000180846	ENST00000314315	.	.	.	0.559	-1.12	0.09808	.	.	.	.	.	T	0.26340	0.0643	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.25117	-1.0141	6	0.87932	D	0	.	.	.	.	.	40	Q8NCQ2	CS034_HUMAN	C	40	.	ENSP00000315669:R40C	R	-	1	0	C19orf34	1904917	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-1.142000	0.03203	-2.313000	0.00648	-2.352000	0.00242	CGC		0.632	CSNK1G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449287.1	NM_001319	
C3	718	broad.mit.edu	37	19	6677996	6677996	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:6677996T>C	ENST00000245907.6	-	41	4981	c.4889A>G	c.(4888-4890)cAc>cGc	p.H1630R	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1630	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.H1630R(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CTCGGGCCAGTGCTCCACCCA	0.612																																					p.H1630R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4889G	19						.						149.0	118.0	128.0					19																	6677996		2203	4300	6503	6628996	SO:0001583	missense	718	exon41			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.4889A>G	19.37:g.6677996T>C	ENSP00000245907:p.His1630Arg		6628996	NM_000064	A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	T	0.803	-0.754636	0.03041	.	.	ENSG00000125730	ENST00000245907	T	0.20332	2.08	4.98	0.265	0.15612	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	1.261060	0.05424	N	0.544814	T	0.13372	0.0324	L	0.27053	0.805	0.09310	N	1	B;B	0.19706	0.001;0.038	B;B	0.25614	0.005;0.062	T	0.32981	-0.9886	10	0.22706	T	0.39	.	1.7276	0.02925	0.3283:0.1356:0.0859:0.4503	.	1630;1065	P01024;B4E216	CO3_HUMAN;.	R	1630	ENSP00000245907:H1630R	ENSP00000245907:H1630R	H	-	2	0	C3	6628996	0.674000	0.27549	0.034000	0.17996	0.019000	0.09904	0.587000	0.23909	-0.361000	0.08125	-0.727000	0.03589	CAC		0.612	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064	
INSR	3643	broad.mit.edu	37	19	7117292	7117292	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:7117292C>A	ENST00000302850.5	-	22	4066	c.3924G>T	c.(3922-3924)gaG>gaT	p.E1308D	INSR_ENST00000341500.5_Missense_Mutation_p.E1296D	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	1308					activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.E1308D(2)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GAGCCTTGTTCTCCTCGCTGT	0.587																																					p.E1308D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3924T	19						.						109.0	100.0	103.0					19																	7117292		2203	4300	6503	7068292	SO:0001583	missense	3643	exon22			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.3924G>T	19.37:g.7117292C>A	ENSP00000303830:p.Glu1308Asp		7068292	NM_000208	Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291209	0.40494	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	T;T	0.76578	-1.03;-1.03	4.85	2.59	0.31030	Protein kinase-like domain (1);	0.000000	0.44483	U	0.000450	T	0.74374	0.3708	M	0.73962	2.25	0.52099	D	0.999946	B;B	0.21688	0.059;0.013	B;B	0.27380	0.079;0.015	T	0.70880	-0.4752	10	0.36615	T	0.2	.	8.6551	0.34058	0.0:0.7966:0.0:0.2034	.	1296;1308	P06213-2;P06213	.;INSR_HUMAN	D	1308;1296	ENSP00000303830:E1308D;ENSP00000342838:E1296D	ENSP00000303830:E1308D	E	-	3	2	INSR	7068292	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	1.260000	0.32968	1.245000	0.43885	0.563000	0.77884	GAG		0.587	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1		
ELAVL1	1994	broad.mit.edu	37	19	8046013	8046013	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:8046013G>A	ENST00000407627.2	-	3	359	c.230C>T	c.(229-231)gCg>gTg	p.A77V	ELAVL1_ENST00000596459.1_Missense_Mutation_p.A77V|ELAVL1_ENST00000593807.1_Missense_Mutation_p.A77V|ELAVL1_ENST00000351593.5_Missense_Mutation_p.A104V	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	77	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|multicellular organismal development (GO:0007275)|positive regulation of translation (GO:0045727)|regulation of stem cell maintenance (GO:2000036)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|double-stranded RNA binding (GO:0003725)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)	p.A77V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CGTGTTGATCGCTCTCTCTGC	0.527																																					p.A77V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C230T	19						.						220.0	153.0	176.0					19																	8046013		2203	4300	6503	7952013	SO:0001583	missense	1994	exon3			U38175	CCDS12193.1	19p13.2	2013-10-03	2013-10-03			ENSG00000066044		"""RNA binding motif (RRM) containing"""	3312	protein-coding gene	gene with protein product	"""embryonic lethal, abnormal vision, drosophila, homolog-like 1"", ""Hu antigen R"""	603466	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)"""	HUR		8626503, 9003489	Standard	NM_001419		Approved	HuR, Hua, MelG	uc002mjb.3	Q15717		ENST00000407627.2:c.230C>T	19.37:g.8046013G>A	ENSP00000385269:p.Ala77Val		7952013	NM_001419	B4DVB8|Q53XN6|Q9BTT1	Missense_Mutation	SNP	ENST00000407627.2	37	CCDS12193.1	.	.	.	.	.	.	.	.	.	.	G	36	5.624919	0.96660	.	.	ENSG00000066044	ENST00000407627;ENST00000351593	D;D	0.87412	-2.25;-2.25	5.78	5.78	0.91487	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.90882	0.7135	M	0.85777	2.775	0.80722	D	1	D	0.67145	0.996	P	0.48030	0.564	D	0.92377	0.5910	10	0.87932	D	0	.	17.4906	0.87702	0.0:0.0:1.0:0.0	.	77	Q15717	ELAV1_HUMAN	V	77;104	ENSP00000385269:A77V;ENSP00000264073:A104V	ENSP00000264073:A104V	A	-	2	0	ELAVL1	7952013	1.000000	0.71417	0.965000	0.40720	0.957000	0.61999	9.132000	0.94455	2.719000	0.93026	0.655000	0.94253	GCG		0.527	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461494.3	NM_001419	
FBN3	84467	broad.mit.edu	37	19	8161391	8161391	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:8161391C>A	ENST00000600128.1	-	44	5890	c.5476G>T	c.(5476-5478)Ggc>Tgc	p.G1826C	FBN3_ENST00000601739.1_Missense_Mutation_p.G1826C|FBN3_ENST00000270509.2_Missense_Mutation_p.G1826C			Q75N90	FBN3_HUMAN	fibrillin 3	1826	EGF-like 28. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.G1826C(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ATGTAGCTGCCTTCTGTGTCC	0.572																																					p.G1826C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5476T	19						.						131.0	89.0	104.0					19																	8161391		2203	4300	6503	8067391	SO:0001583	missense	84467	exon43				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.5476G>T	19.37:g.8161391C>A	ENSP00000470498:p.Gly1826Cys		8067391	NM_032447	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.330756	0.60853	.	.	ENSG00000142449	ENST00000270509	D	0.99557	-6.16	3.63	2.58	0.30949	Epidermal growth factor-like (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.120876	0.56097	U	0.000034	D	0.99722	0.9892	H	0.97291	3.975	0.58432	D	0.999999	D	0.69078	0.997	D	0.66847	0.947	D	0.97952	1.0332	10	0.87932	D	0	.	13.2234	0.59901	0.0:0.8385:0.1615:0.0	.	1826	Q75N90	FBN3_HUMAN	C	1826	ENSP00000270509:G1826C	ENSP00000270509:G1826C	G	-	1	0	FBN3	8067391	0.993000	0.37304	0.933000	0.37362	0.683000	0.39861	3.451000	0.52964	0.611000	0.30052	-0.127000	0.14921	GGC		0.572	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447	
OR2Z1	284383	broad.mit.edu	37	19	8842274	8842274	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:8842274C>T	ENST00000324060.2	+	1	959	c.884C>T	c.(883-885)cCg>cTg	p.P295L		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P295L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTGAGGAATCCGGAGGTGTGG	0.522																																					p.P295L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C884T	19						.						117.0	103.0	108.0					19																	8842274		2203	4300	6503	8703274	SO:0001583	missense	284383	exon1			AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"""GPCR / Class A : Olfactory receptors"""	15391	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily Z, member 2"""	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.884C>T	19.37:g.8842274C>T	ENSP00000316284:p.Pro295Leu		8703274	NM_001004699	B9EH50|Q6IFK0|Q96R25	Missense_Mutation	SNP	ENST00000324060.2	37	CCDS32895.1	.	.	.	.	.	.	.	.	.	.	C	4.350	0.064399	0.08388	.	.	ENSG00000181733	ENST00000324060	T	0.38560	1.13	4.27	-1.75	0.08031	.	1.202490	0.06166	N	0.676821	T	0.23014	0.0556	N	0.12182	0.205	0.09310	N	0.999999	B	0.10296	0.003	B	0.04013	0.001	T	0.30621	-0.9972	10	0.87932	D	0	.	4.57	0.12205	0.4556:0.1625:0.3819:0.0	.	295	Q8NG97	OR2Z1_HUMAN	L	295	ENSP00000316284:P295L	ENSP00000316284:P295L	P	+	2	0	OR2Z1	8703274	0.091000	0.21658	0.043000	0.18650	0.009000	0.06853	0.870000	0.28010	-0.048000	0.13401	-0.266000	0.10368	CCG		0.522	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1		
MBD3L1	85509	broad.mit.edu	37	19	8953886	8953886	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:8953886G>A	ENST00000595891.1	+	3	763	c.532G>A	c.(532-534)Gct>Act	p.A178T	MBD3L1_ENST00000305625.2_Missense_Mutation_p.A178T			Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like 1	178					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A178T(1)		NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						GGATGGACTCGCTAATGAGGC	0.423																																					p.A178T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G532A	19						.						40.0	38.0	39.0					19																	8953886		2203	4298	6501	8814886	SO:0001583	missense	85509	exon1			AY038022	CCDS12209.1	19p13.2	2011-01-31	2003-03-19	2003-03-21	ENSG00000170948	ENSG00000170948			15774	protein-coding gene	gene with protein product		607963	"""methyl-CpG binding domain protein 3-like"""	MBD3L		12504854	Standard	NM_145208		Approved		uc002mko.2	Q8WWY6		ENST00000595891.1:c.532G>A	19.37:g.8953886G>A	ENSP00000471575:p.Ala178Thr		8814886	NM_145208	B5BUM6|Q2M291	Missense_Mutation	SNP	ENST00000595891.1	37	CCDS12209.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.312293	0.60414	.	.	ENSG00000170948	ENST00000305625	T	0.60672	0.17	3.73	3.73	0.42828	.	.	.	.	.	T	0.70753	0.3260	M	0.84683	2.71	0.19775	N	0.999957	D	0.76494	0.999	P	0.54174	0.744	T	0.63363	-0.6654	9	0.59425	D	0.04	-14.6198	11.316	0.49392	0.0:0.0:1.0:0.0	.	178	Q8WWY6	MB3L1_HUMAN	T	178	ENSP00000304198:A178T	ENSP00000304198:A178T	A	+	1	0	MBD3L1	8814886	0.075000	0.21258	0.023000	0.16930	0.014000	0.08584	1.668000	0.37481	2.364000	0.80123	0.591000	0.81541	GCT		0.423	MBD3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459973.1	NM_145208	
MUC16	94025	broad.mit.edu	37	19	9074301	9074301	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:9074301G>T	ENST00000397910.4	-	3	13348	c.13145C>A	c.(13144-13146)tCt>tAt	p.S4382Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4384	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.S4382Y(2)|p.S15Y(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						CACTCCTGAAGATTCTGTCAT	0.473																																					p.S4382Y												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C13145A	19						.						131.0	128.0	129.0					19																	9074301		2036	4169	6205	8935301	SO:0001583	missense	94025	exon3			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.13145C>A	19.37:g.9074301G>T	ENSP00000381008:p.Ser4382Tyr		8935301	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.461	-0.110031	0.06924	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	1.71	1.71	0.24356	.	.	.	.	.	T	0.08133	0.0203	L	0.59436	1.845	.	.	.	D	0.65815	0.995	P	0.60012	0.867	T	0.11891	-1.0569	8	0.87932	D	0	.	6.9126	0.24342	0.0:0.0:1.0:0.0	.	4382	B5ME49	.	Y	4382	ENSP00000381008:S4382Y	ENSP00000381008:S4382Y	S	-	2	0	MUC16	8935301	0.001000	0.12720	0.002000	0.10522	0.054000	0.15201	0.565000	0.23578	1.250000	0.43966	0.305000	0.20034	TCT		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9088708	9088708	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:9088708G>A	ENST00000397910.4	-	1	3310	c.3107C>T	c.(3106-3108)gCt>gTt	p.A1036V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1036	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.A1036V(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						GTTGGTAGAAGCCACAGCCAT	0.488																																					p.A1036V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3107T	19						.						140.0	134.0	136.0					19																	9088708		1972	4168	6140	8949708	SO:0001583	missense	94025	exon1			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.3107C>T	19.37:g.9088708G>A	ENSP00000381008:p.Ala1036Val		8949708	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.391	0.072214	0.08436	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	1.52	-1.07	0.09968	.	.	.	.	.	T	0.01421	0.0046	N	0.08118	0	.	.	.	B	0.30686	0.29	B	0.26310	0.068	T	0.46091	-0.9216	8	0.87932	D	0	.	2.0939	0.03663	0.2102:0.0:0.4838:0.306	.	1036	B5ME49	.	V	1036	ENSP00000381008:A1036V	ENSP00000381008:A1036V	A	-	2	0	MUC16	8949708	0.001000	0.12720	0.000000	0.03702	0.023000	0.10783	0.069000	0.14552	-0.191000	0.10448	0.313000	0.20887	GCT		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
ZNF559	84527	broad.mit.edu	37	19	9453096	9453096	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:9453096A>C	ENST00000393883.2	+	6	1617	c.969A>C	c.(967-969)aaA>aaC	p.K323N	ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000603380.1_Missense_Mutation_p.K323N|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000605471.1_Intron|CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF559_ENST00000587557.1_Missense_Mutation_p.K387N|ZNF559_ENST00000592896.1_3'UTR|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000538743.1_Missense_Mutation_p.K243N|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000541595.2_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	323					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.K323N(1)		endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						CTGGAGAAAAACCGTATGAGT	0.378																																					p.K323N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A969C	19						.																																			9314096	SO:0001583	missense	84527	exon6			AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"""Zinc fingers, C2H2-type"", ""-"""	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.969A>C	19.37:g.9453096A>C	ENSP00000377461:p.Lys323Asn		9314096	NM_032497	K7EMG6	Missense_Mutation	SNP	ENST00000393883.2	37	CCDS12211.1	.	.	.	.	.	.	.	.	.	.	A	18.87	3.716073	0.68844	.	.	ENSG00000188321	ENST00000317221;ENST00000538743;ENST00000393883	T;T	0.26067	1.76;1.76	2.14	1.1	0.20463	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46814	0.1412	M	0.82132	2.575	0.24323	N	0.995036	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.79784	0.973;0.993;0.972	T	0.21930	-1.0231	9	0.87932	D	0	.	5.4845	0.16741	0.8441:0.0:0.1559:0.0	.	323;323;243	B3KPL8;Q9BR84;B4DP29	.;ZN559_HUMAN;.	N	323;243;323	ENSP00000442832:K243N;ENSP00000377461:K323N	ENSP00000325393:K323N	K	+	3	2	ZNF559	9314096	0.000000	0.05858	0.212000	0.23672	0.807000	0.45602	-0.966000	0.03825	0.268000	0.21939	0.379000	0.24179	AAA		0.378	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	NM_032497	
FBXL12	54850	broad.mit.edu	37	19	9922291	9922291	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:9922291delG	ENST00000247977.4	-	3	503	c.262delC	c.(262-264)cagfs	p.Q88fs	FBXL12_ENST00000589626.1_3'UTR|FBXL12_ENST00000585379.1_Frame_Shift_Del_p.Q35fs|FBXL12_ENST00000592067.1_3'UTR|FBXL12_ENST00000586469.1_Frame_Shift_Del_p.P63fs|FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000591009.1_Frame_Shift_Del_p.Q35fs|FBXL12_ENST00000586651.1_3'UTR	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	88					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)		p.Q88fs*7(1)		endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						GGGGACAACTGGGGGGCCTGG	0.632																																					p.Q88fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.262delC	19						.						42.0	48.0	46.0					19																	9922291		2202	4295	6497	9783291	SO:0001589	frameshift_variant	54850	exon3			AK000195	CCDS12218.1	19p13.2	2011-06-09				ENSG00000127452		"""F-boxes / Leucine-rich repeats"""	13611	protein-coding gene	gene with protein product		609079				10531037	Standard	XM_005259964		Approved	FLJ20188, Fbl12	uc002mme.3	Q9NXK8		ENST00000247977.4:c.262delC	19.37:g.9922291delG	ENSP00000247977:p.Gln88fs		9783291	NM_017703	B3KSJ8|Q9H5K4	Frame_Shift_Del	DEL	ENST00000247977.4	37	CCDS12218.1																																																																																				0.632	FBXL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450265.1	NM_017703	
CD97	976	broad.mit.edu	37	19	14518759	14518759	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:14518759delG	ENST00000242786.5	+	19	2496	c.2416delG	c.(2416-2418)gggfs	p.G807fs	CD97_ENST00000357355.3_Frame_Shift_Del_p.G758fs|CD97_ENST00000358600.3_Frame_Shift_Del_p.G714fs|CTC-548K16.5_ENST00000590626.1_RNA|DDX39A_ENST00000592927.1_5'Flank	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	807					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.S808fs*>28(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CCTAGTTGCTGGGGGGAGCAA	0.652																																					p.G757fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2269delG	19						.						46.0	40.0	42.0					19																	14518759		2203	4300	6503	14379759	SO:0001589	frameshift_variant	976	exon18				CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.2416delG	19.37:g.14518759delG	ENSP00000242786:p.Gly807fs		14379759	NM_001025160	A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Frame_Shift_Del	DEL	ENST00000242786.5	37	CCDS32929.1																																																																																				0.652	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481	
SUPT5H	6829	broad.mit.edu	37	19	39949474	39949476	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	TGT	TGT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:39949474_39949476delTGT	ENST00000599117.1	+	7	703_705	c.336_338delTGT	c.(334-339)aatgtt>aat	p.V114del	SUPT5H_ENST00000402194.2_In_Frame_Del_p.V110del|SUPT5H_ENST00000598725.1_In_Frame_Del_p.V114del|SUPT5H_ENST00000359191.6_In_Frame_Del_p.V110del|SUPT5H_ENST00000432763.2_In_Frame_Del_p.V114del			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	114					7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.V114delV(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ATATCGATAATGTTGTCCTGGAT	0.562																																					p.112_113del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.336_338del	19						.																																			44641316	SO:0001651	inframe_deletion	6829	exon5			U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.336_338delTGT	19.37:g.39949477_39949479delTGT	ENSP00000470252:p.Val114del		44641314	NM_003169	O43279|Q59G52|Q99639	In_Frame_Del	DEL	ENST00000599117.1	37	CCDS12536.1																																																																																				0.562	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169	
CEACAM4	1089	broad.mit.edu	37	19	42133320	42133320	+	Frame_Shift_Del	DEL	G	G	-	rs550011355|rs144781407	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:42133320delG	ENST00000221954.2	-	1	122	c.12delC	c.(10-12)cccfs	p.P4fs	CEACAM4_ENST00000600925.1_Frame_Shift_Del_p.P4fs	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	4						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.S5fs*15(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						GAGCGGCTGAGGGGGGGCCCA	0.662														4	0.000798722	0.003	0.0	5008	,	,		17337	0.0		0.0	False		,,,				2504	0.0				p.P4fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.12delC	19						.						26.0	28.0	27.0					19																	42133320		2203	4300	6503	46825160	SO:0001589	frameshift_variant	1089	exon1			D90276	CCDS33033.1	19q13.2	2013-01-11			ENSG00000105352	ENSG00000105352		"""Immunoglobulin superfamily / V-set domain containing"""	1816	protein-coding gene	gene with protein product				CGM7		2050678	Standard	XM_005258434		Approved		uc002orh.1	O75871	OTTHUMG00000151065	ENST00000221954.2:c.12delC	19.37:g.42133320delG	ENSP00000221954:p.Pro4fs		46825160	NM_001817	Q03715|Q7LDZ7	Frame_Shift_Del	DEL	ENST00000221954.2	37	CCDS33033.1																																																																																				0.662	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321148.1	NM_001817	
CEACAM16	388551	broad.mit.edu	37	19	45202702	45202702	+	Intron	DEL	T	T	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:45202702delT	ENST00000587331.1	+	1	119				CEACAM16_ENST00000405314.2_5'Flank|CTB-171A8.1_ENST00000590796.1_RNA	NM_001039213.2	NP_001034302.2	Q2WEN9	CEA16_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16						sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)|stereocilium bundle tip (GO:0032426)		p.L61fs*1(4)		endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				gagcctatacttttttTTTTT	0.468																																					.												.	.	4	Deletion - Frameshift(4)	large_intestine(4)	.	19						.			259,128,2691		23,1,212,14,99,1190	52.0	61.0	58.0			-1.6	0.0	19	dbSNP_130	66	438,337,6203		44,7,343,34,262,2799	no	intron	CEACAM16	NM_001039213.2		67,8,555,48,361,3989	A1A1,A1A2,A1R,A2A2,A2R,RR		11.1063,12.5731,11.5553			45202702	697,465,8894	953	2098	3051	49894542	SO:0001627	intron_variant	388551	.				CCDS54278.1	19q13.31	2014-01-27			ENSG00000213892	ENSG00000213892		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31948	protein-coding gene	gene with protein product		614591				21368133	Standard	NM_001039213		Approved	DFNA4B	uc010xxd.2	Q2WEN9	OTTHUMG00000151519	ENST00000587331.1:c.-97+163T>-	19.37:g.45202702delT			49894542	.	A7LI12	Frame_Shift_Del	DEL	ENST00000587331.1	37	CCDS54278.1																																																																																				0.468	CEACAM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322986.2	XM_371177	
ZNF418	147686	broad.mit.edu	37	19	58439329	58439329	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:58439329delC	ENST00000396147.1	-	4	511	c.220delG	c.(220-222)gcafs	p.A74fs	ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599852.1_5'UTR|ZNF418_ENST00000595830.1_Frame_Shift_Del_p.A74fs|ZNF418_ENST00000425570.3_Frame_Shift_Del_p.A95fs	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	74	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A74fs*74(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		GACACACCTGCCCCAGGAGTG	0.493																																					p.A74fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.220delG	19						.						52.0	56.0	55.0					19																	58439329		2200	4297	6497	63131141	SO:0001589	frameshift_variant	147686	exon4			AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"""Zinc fingers, C2H2-type"", ""-"""	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.220delG	19.37:g.58439329delC	ENSP00000379451:p.Ala74fs		63131141	NM_133460	Q2M1S2|Q670L5|Q96N18	Frame_Shift_Del	DEL	ENST00000396147.1	37	CCDS42642.1																																																																																				0.493	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1	NM_133460	
ZNF324B	388569	broad.mit.edu	37	19	58967141	58967141	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr19:58967141G>A	ENST00000336614.4	+	4	937	c.830G>A	c.(829-831)cGc>cAc	p.R277H	ZNF324B_ENST00000545523.1_Missense_Mutation_p.R277H|ZNF324B_ENST00000391696.1_Missense_Mutation_p.R267H	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	277					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.R277H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		AAGCACCTACGCACCCACACC	0.647																																					p.R277H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G830A	19						.						44.0	40.0	41.0					19																	58967141		2201	4300	6501	63658953	SO:0001583	missense	388569	exon4			AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"""Zinc fingers, C2H2-type"", ""-"""	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.830G>A	19.37:g.58967141G>A	ENSP00000337473:p.Arg277His		63658953	NM_207395	B2RTZ6|Q6ZMX8|Q6ZS42	Missense_Mutation	SNP	ENST00000336614.4	37	CCDS33138.1	.	.	.	.	.	.	.	.	.	.	g	16.68	3.191452	0.58017	.	.	ENSG00000249471	ENST00000336614;ENST00000545523;ENST00000391696	T;T;T	0.02446	4.29;4.29;4.29	3.22	2.14	0.27477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42294	D	0.000734	T	0.11750	0.0286	M	0.79011	2.435	0.09310	N	1	D;D	0.89917	1.0;1.0	D;P	0.70487	0.969;0.867	T	0.01720	-1.1288	10	0.87932	D	0	.	8.7056	0.34351	0.1209:0.0:0.8791:0.0	.	277;267	Q6AW86;C9JTQ8	Z324B_HUMAN;.	H	277;277;267	ENSP00000337473:R277H;ENSP00000438930:R277H;ENSP00000375578:R267H	ENSP00000337473:R277H	R	+	2	0	ZNF324B	63658953	0.000000	0.05858	0.836000	0.33094	0.996000	0.88848	0.534000	0.23098	0.646000	0.30693	0.591000	0.81541	CGC		0.647	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467038.1	NM_207395	
TRIM17	51127	broad.mit.edu	37	1	228596778	228596779	+	Intron	INS	-	-	C	rs199722854|rs199946126	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:228596778_228596779insC	ENST00000366697.2	-	5	1840				TRIM17_ENST00000295033.3_Intron|TRIM11_ENST00000284551.6_5'Flank|TRIM11_ENST00000366699.3_5'Flank|TRIM17_ENST00000456946.2_Frame_Shift_Ins_p.G326fs|TRIM17_ENST00000366698.2_Intron|RP11-245P10.4_ENST00000436779.1_RNA			Q9Y577	TRI17_HUMAN	tripartite motif containing 17						protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S327fs*8(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				CACTTGTAGAACCCCCCCCATT	0.569													?|CCCCCCCC|CCCCCCCCC|unsure	27	0.00539137	0.0136	0.0029	5008	,	,		14347	0.005		0.0	False		,,,				2504	0.002				p.G326fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.978_979insG	1						.																																			226663402	SO:0001627	intron_variant	51127	exon6			AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13430	protein-coding gene	gene with protein product	"""ring finger protein 16"", ""RING finger protein terf"", ""testis RING finger protein"""	606123	"""tripartite motif-containing 17"""	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.883+93->G	1.37:g.228596786_228596786dupC			226663401	NM_001134855	B4DVJ2|Q5VST8	Frame_Shift_Ins	INS	ENST00000366697.2	37	CCDS1571.1																																																																																				0.569	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096439.2	NM_016102	
AGL	178	broad.mit.edu	37	1	100349740	100349740	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:100349740G>T	ENST00000294724.4	+	18	2851	c.2373G>T	c.(2371-2373)aaG>aaT	p.K791N	AGL_ENST00000361302.3_Missense_Mutation_p.K775N|AGL_ENST00000370161.2_Missense_Mutation_p.K775N|AGL_ENST00000361522.4_Missense_Mutation_p.K774N|AGL_ENST00000361915.3_Missense_Mutation_p.K791N|AGL_ENST00000370163.3_Missense_Mutation_p.K791N|AGL_ENST00000370165.3_Missense_Mutation_p.K791N	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	791					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)	p.K791N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CTTATAGGAAGGATGAGAATT	0.318																																					p.K774N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2322T	1						.						109.0	116.0	114.0					1																	100349740		2203	4298	6501	100122328	SO:0001583	missense	178	exon16			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.2373G>T	1.37:g.100349740G>T	ENSP00000294724:p.Lys791Asn		100122328	NM_000645	A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	CCDS759.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538095	0.45176	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.8	2.43	0.29744	.	0.092360	0.64402	D	0.000001	T	0.24736	0.0600	L	0.58428	1.81	0.41873	D	0.990284	P;P;P	0.48162	0.906;0.906;0.848	P;P;P	0.54270	0.747;0.747;0.641	T	0.02683	-1.1124	10	0.37606	T	0.19	-12.236	6.9704	0.24646	0.4774:0.0:0.5226:0.0	.	774;775;791	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	N	791;791;791;791;775;775;774	ENSP00000355106:K791N;ENSP00000359184:K791N;ENSP00000359182:K791N;ENSP00000294724:K791N;ENSP00000354971:K775N;ENSP00000359180:K775N;ENSP00000354635:K774N	ENSP00000294724:K791N	K	+	3	2	AGL	100122328	1.000000	0.71417	0.891000	0.34965	0.462000	0.32619	1.103000	0.31062	0.772000	0.33382	0.650000	0.86243	AAG		0.318	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028	
COL11A1	1301	broad.mit.edu	37	1	103412468	103412468	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:103412468A>C	ENST00000370096.3	-	42	3525	c.3213T>G	c.(3211-3213)atT>atG	p.I1071M	COL11A1_ENST00000353414.4_Missense_Mutation_p.I1032M|COL11A1_ENST00000358392.2_Missense_Mutation_p.I1083M|COL11A1_ENST00000512756.1_Missense_Mutation_p.I955M	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1071	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.I1083M(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTGGTAAACCAATTGGGCCAG	0.468																																					p.I1071M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3213G	1						.						37.0	36.0	36.0					1																	103412468		2203	4300	6503	103185056	SO:0001583	missense	1301	exon42			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3213T>G	1.37:g.103412468A>C	ENSP00000359114:p.Ile1071Met		103185056	NM_001854	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	A	14.99	2.701028	0.48307	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24	5.51	3.22	0.36961	.	0.055068	0.64402	D	0.000001	D	0.87394	0.6166	N	0.16656	0.425	0.58432	D	0.999999	D;P;D;D;P	0.57571	0.96;0.875;0.98;0.966;0.739	P;B;P;P;P	0.57101	0.813;0.401;0.788;0.618;0.63	D	0.87668	0.2539	10	0.66056	D	0.02	.	9.3501	0.38133	0.854:0.0:0.146:0.0	.	955;1032;1083;1071;291	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	M	1071;1083;1032;291;955	ENSP00000359114:I1071M;ENSP00000351163:I1083M;ENSP00000302551:I1032M;ENSP00000426533:I955M	ENSP00000302551:I1032M	I	-	3	3	COL11A1	103185056	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	1.650000	0.37292	0.396000	0.25283	0.528000	0.53228	ATT		0.468	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	
COL11A1	1301	broad.mit.edu	37	1	103470215	103470215	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:103470215A>G	ENST00000370096.3	-	19	2160	c.1848T>C	c.(1846-1848)ggT>ggC	p.G616G	COL11A1_ENST00000353414.4_Silent_p.G577G|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000358392.2_Silent_p.G628G|COL11A1_ENST00000512756.1_Silent_p.G500G	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	616	Collagen-like 3.|Collagen-like 4.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.G628G(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GACCTCGTTCACCCTGTTAAA	0.338																																					p.G616G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1848C	1						.						37.0	33.0	34.0					1																	103470215		2203	4300	6503	103242803	SO:0001819	synonymous_variant	1301	exon19			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1848T>C	1.37:g.103470215A>G			103242803	NM_001854	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	CCDS778.1																																																																																				0.338	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	
NTNG1	22854	broad.mit.edu	37	1	107867035	107867035	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:107867035T>C	ENST00000370068.1	+	3	1224	c.378T>C	c.(376-378)taT>taC	p.Y126Y	NTNG1_ENST00000370066.1_Silent_p.Y126Y|NTNG1_ENST00000542803.1_Silent_p.Y126Y|NTNG1_ENST00000370073.2_Silent_p.Y126Y|NTNG1_ENST00000370071.2_Silent_p.Y126Y|NTNG1_ENST00000370061.3_Silent_p.Y126Y|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370065.1_Silent_p.Y126Y|NTNG1_ENST00000370070.2_Silent_p.Y126Y|NTNG1_ENST00000370074.4_Silent_p.Y126Y|NTNG1_ENST00000370067.1_Silent_p.Y126Y|NTNG1_ENST00000370072.3_Silent_p.Y126Y			Q9Y2I2	NTNG1_HUMAN	netrin G1	126	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)		p.Y126Y(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GGAAGGAGTATCCCAAGCCTC	0.483																																					p.Y126Y												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T378C	1						.						112.0	116.0	115.0					1																	107867035		2203	4300	6503	107668558	SO:0001819	synonymous_variant	22854	exon3			AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.378T>C	1.37:g.107867035T>C			107668558	NM_001113228	Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Silent	SNP	ENST00000370068.1	37	CCDS44180.1																																																																																				0.483	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917	
C1orf194	127003	broad.mit.edu	37	1	109649636	109649636	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:109649636T>C	ENST00000369948.3	-	3	382	c.307A>G	c.(307-309)Acc>Gcc	p.T103A	C1orf194_ENST00000369949.4_Missense_Mutation_p.T91A|C1orf194_ENST00000369945.3_Missense_Mutation_p.T64A			Q5T5A4	CA194_HUMAN	chromosome 1 open reading frame 194	103								p.T91A(1)		large_intestine(2)|lung(2)|ovary(2)	6						TACCTATAGGTATCCTGCGTG	0.453																																					p.T91A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A271G	1						.						133.0	117.0	122.0					1																	109649636		1568	3582	5150	109451159	SO:0001583	missense	127003	exon3				CCDS41364.1	1p13.3	2011-03-31			ENSG00000179902	ENSG00000179902			32331	protein-coding gene	gene with protein product							Standard	NM_001122961		Approved		uc009wew.3	Q5T5A4	OTTHUMG00000011735	ENST00000369948.3:c.307A>G	1.37:g.109649636T>C	ENSP00000358964:p.Thr103Ala		109451159	NM_001122961	Q5T5A3	Missense_Mutation	SNP	ENST00000369948.3	37		.	.	.	.	.	.	.	.	.	.	T	7.244	0.601816	0.13939	.	.	ENSG00000179902	ENST00000369949;ENST00000369948;ENST00000369945	.	.	.	4.71	-0.468	0.12146	.	1.261060	0.05592	N	0.574905	T	0.14098	0.0341	L	0.42245	1.32	0.09310	N	1	B;B	0.22683	0.073;0.006	B;B	0.24394	0.053;0.006	T	0.30909	-0.9962	9	0.39692	T	0.17	1.7785	4.2561	0.10717	0.0:0.2876:0.1693:0.5431	.	91;103	Q5T5A4-2;Q5T5A4	.;CA194_HUMAN	A	91;103;64	.	ENSP00000358961:T64A	T	-	1	0	C1orf194	109451159	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.027000	0.13621	-0.144000	0.11314	-1.424000	0.01105	ACC		0.453	C1orf194-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000032416.2	NM_001122961	
KIAA1324	57535	broad.mit.edu	37	1	109743462	109743462	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:109743462C>T	ENST00000369939.3	+	21	3096	c.2913C>T	c.(2911-2913)gaC>gaT	p.D971D	KIAA1324_ENST00000529753.1_Silent_p.D884D|KIAA1324_ENST00000369938.1_3'UTR	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	971					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)	p.D971D(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		ATGTAGAGGACGACCTCATCT	0.527											OREG0013630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D971D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2913T	1						.						113.0	98.0	103.0					1																	109743462		2203	4300	6503	109544985	SO:0001819	synonymous_variant	57535	exon21			AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.2913C>T	1.37:g.109743462C>T		1422	109544985	NM_020775	Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Silent	SNP	ENST00000369939.3	37	CCDS794.1																																																																																				0.527	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775	
PSRC1	84722	broad.mit.edu	37	1	109824420	109824420	+	Missense_Mutation	SNP	G	G	A	rs141272790		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:109824420G>A	ENST00000438534.2	-	4	478	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	PSRC1_ENST00000369907.3_Missense_Mutation_p.R114W|PSRC1_ENST00000369903.2_Missense_Mutation_p.R114W|PSRC1_ENST00000409267.1_Missense_Mutation_p.R114W|PSRC1_ENST00000369904.3_Missense_Mutation_p.R114W|PSRC1_ENST00000409138.2_Missense_Mutation_p.R114W|PSRC1_ENST00000369909.2_Missense_Mutation_p.R114W	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1	114	4 X 4 AA repeats of P-X-X-P.				microtubule bundle formation (GO:0001578)|mitotic metaphase plate congression (GO:0007080)|negative regulation of cell growth (GO:0030308)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mitotic spindle organization (GO:0060236)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	microtubule binding (GO:0008017)	p.R114W(1)		endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		AAGGTCTCCCGCCGAGGACTG	0.677																																					p.R114W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C340T	1						.						43.0	47.0	45.0					1																	109824420		2203	4300	6503	109625943	SO:0001583	missense	84722	exon4				CCDS797.1, CCDS30791.1	1p13.3	2008-02-05			ENSG00000134222	ENSG00000134222			24472	protein-coding gene	gene with protein product	"""differential display and activated by p53"""	613126				12427559, 10618717	Standard	NM_001032291		Approved	DDA3	uc001dxd.3	Q6PGN9	OTTHUMG00000012000	ENST00000438534.2:c.340C>T	1.37:g.109824420G>A	ENSP00000413591:p.Arg114Trp		109625943	NM_032636	Q5T2Z3|Q6ZTI8|Q71MG3|Q9BV77	Missense_Mutation	SNP	ENST00000438534.2	37		.	.	.	.	.	.	.	.	.	.	G	23.1	4.373320	0.82573	.	.	ENSG00000134222	ENST00000369904;ENST00000409267;ENST00000369907;ENST00000438534;ENST00000369909;ENST00000369903;ENST00000429031;ENST00000418914	T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05	5.74	2.53	0.30540	.	0.000000	0.64402	D	0.000003	T	0.67998	0.2953	M	0.67397	2.05	0.36561	D	0.872407	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.73173	-0.4066	10	0.87932	D	0	0.02	11.4575	0.50191	0.0:0.0:0.5769:0.4231	.	114;114;114	Q6PGN9;Q6PGN9-3;Q6PGN9-2	PSRC1_HUMAN;.;.	W	114	ENSP00000386323:R114W;ENSP00000358923:R114W;ENSP00000413591:R114W;ENSP00000358925:R114W;ENSP00000358919:R114W	ENSP00000358919:R114W	R	-	1	2	PSRC1	109625943	0.658000	0.27402	1.000000	0.80357	0.995000	0.86356	0.382000	0.20635	1.403000	0.46800	0.561000	0.74099	CGG		0.677	PSRC1-202	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000335567.3	NM_032636	
CYB561D1	284613	broad.mit.edu	37	1	110038714	110038714	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:110038714C>T	ENST00000420578.2	+	3	563	c.523C>T	c.(523-525)Ctg>Ttg	p.L175L	CYB561D1_ENST00000533024.1_3'UTR|CYB561D1_ENST00000393709.3_Silent_p.L118L|CYB561D1_ENST00000527072.1_3'UTR|CYB561D1_ENST00000369868.3_Silent_p.L197L|CYB561D1_ENST00000430195.2_3'UTR|CYB561D1_ENST00000310611.4_3'UTR|CYB561D1_ENST00000496961.1_3'UTR|CYB561D1_ENST00000528785.1_Silent_p.L175L			Q8N8Q1	C56D1_HUMAN	cytochrome b561 family, member D1	175	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.L175L(1)		breast(1)|large_intestine(3)|prostate(1)	5		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0422)|Epithelial(280;0.0655)|all cancers(265;0.0685)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		GGTGGTCTACCTGATGGCTAC	0.597																																					p.L118L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C352T	1						.						161.0	148.0	152.0					1																	110038714		2203	4300	6503	109840237	SO:0001819	synonymous_variant	284613	exon2			AK096354	CCDS800.1, CCDS44188.1, CCDS44189.1, CCDS44190.1, CCDS44191.1	1p13.2	2013-03-14	2013-03-14		ENSG00000174151	ENSG00000174151		"""Cytochrome b genes"""	26804	protein-coding gene	gene with protein product			"""cytochrome b-561 domain containing 1"""			23249217	Standard	NM_182580		Approved	FLJ39035, FLJ44753	uc010ovo.2	Q8N8Q1	OTTHUMG00000011051	ENST00000420578.2:c.523C>T	1.37:g.110038714C>T			109840237	NM_001134402	B4DH97|E9PCM8|Q52M36|Q5T6C2|Q5T6C3	Silent	SNP	ENST00000420578.2	37	CCDS800.1																																																																																				0.597	CYB561D1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030384.1	NM_182580	
GPR61	83873	broad.mit.edu	37	1	110085780	110085780	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:110085780C>A	ENST00000527748.1	+	2	819	c.136C>A	c.(136-138)Ctc>Atc	p.L46I	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.L46I(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		ATCTGTGGCCCTCTTCTTCAT	0.597																																					p.L46I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C136A	1						.						173.0	172.0	172.0					1																	110085780		2203	4300	6503	109887303	SO:0001583	missense	83873	exon2			AF317652	CCDS801.1	1p13.3	2012-08-21			ENSG00000156097	ENSG00000156097		"""GPCR / Class A : Orphans"""	13300	protein-coding gene	gene with protein product		606916				11165367, 11690637	Standard	NM_031936		Approved	BALGR	uc001dxy.2	Q9BZJ8	OTTHUMG00000011633	ENST00000527748.1:c.136C>A	1.37:g.110085780C>A	ENSP00000432456:p.Leu46Ile		109887303	NM_031936	A8K1W2|Q6NWS0|Q8TDV4|Q96PR4	Missense_Mutation	SNP	ENST00000527748.1	37	CCDS801.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.838057	0.32513	.	.	ENSG00000156097	ENST00000527748;ENST00000286603	T	0.37411	1.2	4.58	4.58	0.56647	.	0.076117	0.56097	D	0.000038	T	0.13457	0.0326	N	0.19112	0.55	0.44871	D	0.997889	P	0.48503	0.911	B	0.39840	0.311	T	0.03268	-1.1054	10	0.20519	T	0.43	-18.8754	17.1686	0.86822	0.0:1.0:0.0:0.0	.	46	Q9BZJ8	GPR61_HUMAN	I	46;174	ENSP00000432456:L46I	ENSP00000286603:L174I	L	+	1	0	GPR61	109887303	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.836000	0.69375	2.363000	0.80096	0.555000	0.69702	CTC		0.597	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385575.1		
AMPD2	271	broad.mit.edu	37	1	110172534	110172534	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:110172534G>A	ENST00000256578.3	+	15	2501	c.2141G>A	c.(2140-2142)cGc>cAc	p.R714H	AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000528667.1_Missense_Mutation_p.R714H|AMPD2_ENST00000528454.1_Missense_Mutation_p.R596H|AMPD2_ENST00000393688.3_Missense_Mutation_p.R595H|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000342115.4_Missense_Mutation_p.R633H|AMPD2_ENST00000358729.4_Missense_Mutation_p.R639H	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	714					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)	p.R714H(1)		breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTCCTTCTGCGCAAGGTCAGG	0.607																																					p.R714H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2141A	1						.						127.0	124.0	125.0					1																	110172534		2203	4300	6503	109974057	SO:0001583	missense	271	exon15			S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"""AMPD isoform L"""	102771	"""adenosine monophosphate deaminase 2 (isoform L)"""			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.2141G>A	1.37:g.110172534G>A	ENSP00000256578:p.Arg714His		109974057	NM_004037	B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	ENST00000256578.3	37	CCDS805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.9|26.9	4.785654|4.785654	0.90282|0.90282	.|.	.|.	ENSG00000116337|ENSG00000116337	ENST00000476688|ENST00000342115;ENST00000528667;ENST00000256578;ENST00000358729;ENST00000528454;ENST00000393688	.|D;D;D;D;D;D	.|0.95588	.|-3.75;-3.75;-3.75;-3.75;-3.75;-3.75	4.36|4.36	4.36|4.36	0.52297|0.52297	.|Adenosine/AMP deaminase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97632|0.97632	0.9224|0.9224	M|M	0.85299|0.85299	2.745|2.745	0.53688|0.53688	D|D	0.999972|0.999972	.|D;D;P;D	.|0.89917	.|1.0;1.0;0.933;1.0	.|D;D;P;D	.|0.81914	.|0.995;0.952;0.652;0.968	D|D	0.98239|0.98239	1.0487|1.0487	5|10	.|0.72032	.|D	.|0.01	-25.5686|-25.5686	17.0342|17.0342	0.86470|0.86470	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|639;595;714;633	.|Q01433-4;Q01433-3;Q01433;Q01433-2	.|.;.;AMPD2_HUMAN;.	T|H	103|633;714;714;639;596;595	.|ENSP00000345498:R633H;ENSP00000436541:R714H;ENSP00000256578:R714H;ENSP00000351573:R639H;ENSP00000437164:R596H;ENSP00000377292:R595H	.|ENSP00000256578:R714H	A|R	+|+	1|2	0|0	AMPD2|AMPD2	109974057|109974057	0.550000|0.550000	0.26489|0.26489	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	3.328000|3.328000	0.52052|0.52052	2.424000|2.424000	0.82194|0.82194	0.561000|0.561000	0.74099|0.74099	GCA|CGC		0.607	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1		
MTOR	2475	broad.mit.edu	37	1	11303178	11303178	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:11303178C>T	ENST00000361445.4	-	9	1481	c.1405G>A	c.(1405-1407)Gcc>Acc	p.A469T		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	469	Interaction with NBN.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.A469T(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TACTTATGGGCGAAGTCCTTT	0.522																																					p.A469T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1405A	1						.						66.0	70.0	69.0					1																	11303178		2203	4300	6503	11225765	SO:0001583	missense	2475	exon9			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.1405G>A	1.37:g.11303178C>T	ENSP00000354558:p.Ala469Thr		11225765	NM_004958	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.951535	0.53186	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.07327	3.2	6.11	6.11	0.99139	Armadillo-like helical (1);Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	T	0.06050	0.0157	N	0.16130	0.375	0.80722	D	1	B	0.21147	0.052	B	0.11329	0.006	T	0.47433	-0.9118	10	0.22706	T	0.39	-8.6105	14.832	0.70156	0.0:0.9319:0.0:0.0681	.	469	P42345	MTOR_HUMAN	T	469	ENSP00000354558:A469T	ENSP00000354558:A469T	A	-	1	0	MTOR	11225765	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.602000	0.67612	2.906000	0.99361	0.655000	0.94253	GCC		0.522	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958	
LRIF1	55791	broad.mit.edu	37	1	111495256	111495256	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:111495256T>A	ENST00000369763.4	-	2	640	c.250A>T	c.(250-252)Att>Ttt	p.I84F	RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_5'UTR|LRIF1_ENST00000485275.2_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	84					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)		p.I84F(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						GAGCTGGAAATCTGAGTCTGA	0.378																																					p.I84F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A250T	1						.						77.0	76.0	77.0					1																	111495256		2203	4300	6503	111296779	SO:0001583	missense	55791	exon2			AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"""receptor interacting factor 1"""	615354	"""chromosome 1 open reading frame 103"""	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.250A>T	1.37:g.111495256T>A	ENSP00000358778:p.Ile84Phe		111296779	NM_018372	Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Missense_Mutation	SNP	ENST00000369763.4	37	CCDS30800.1	.	.	.	.	.	.	.	.	.	.	T	12.50	1.956219	0.34565	.	.	ENSG00000121931	ENST00000369763	T	0.25414	1.8	5.52	4.42	0.53409	.	0.098661	0.44688	D	0.000426	T	0.16041	0.0386	N	0.24115	0.695	0.80722	D	1	D	0.53745	0.962	P	0.57101	0.813	T	0.02371	-1.1169	10	0.29301	T	0.29	-11.7358	9.4166	0.38525	0.0:0.0:0.3263:0.6737	.	84	Q5T3J3	LRIF1_HUMAN	F	84	ENSP00000358778:I84F	ENSP00000358778:I84F	I	-	1	0	LRIF1	111296779	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.322000	0.33689	2.115000	0.64714	0.383000	0.25322	ATT		0.378	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372	
KCND3	3752	broad.mit.edu	37	1	112524863	112524863	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:112524863C>T	ENST00000315987.2	-	2	965	c.486G>A	c.(484-486)tcG>tcA	p.S162S	KCND3_ENST00000369697.1_Silent_p.S162S|KCND3_ENST00000302127.4_Silent_p.S162S	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	162					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.S162S(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GGAAGCTGAGCGAGGGCATGG	0.612																																					p.S162S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G486A	1						.						58.0	53.0	54.0					1																	112524863		2203	4300	6503	112326386	SO:0001819	synonymous_variant	3752	exon2			AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.486G>A	1.37:g.112524863C>T			112326386	NM_004980	O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Silent	SNP	ENST00000315987.2	37	CCDS843.1																																																																																				0.612	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198	
SLC16A1	6566	broad.mit.edu	37	1	113460498	113460498	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:113460498C>A	ENST00000538576.1	-	4	1361	c.530G>T	c.(529-531)aGc>aTc	p.S177I	SLC16A1_ENST00000433570.4_Missense_Mutation_p.S177I|SLC16A1_ENST00000369626.3_Missense_Mutation_p.S177I	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	177					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)	p.S177I(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	AATTAGAAAGCTTCCTCTCCA	0.542																																					p.S177I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G530T	1						.						55.0	57.0	56.0					1																	113460498		2203	4300	6503	113262021	SO:0001583	missense	6566	exon4			BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"""Solute carriers"""	10922	protein-coding gene	gene with protein product		600682	"""solute carrier family 16 (monocarboxylic acid transporters), member 1"", ""solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"""			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.530G>T	1.37:g.113460498C>A	ENSP00000441065:p.Ser177Ile		113262021	NM_001166496	Q49A45|Q5T8R6|Q9NSJ9	Missense_Mutation	SNP	ENST00000538576.1	37	CCDS858.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742826	0.89573	.	.	ENSG00000155380	ENST00000369626;ENST00000538576;ENST00000458229;ENST00000433570;ENST00000443580;ENST00000429288	T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83	5.74	5.74	0.90152	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.034571	0.85682	D	0.000000	T	0.75598	0.3871	M	0.93978	3.48	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.81006	-0.1128	10	0.87932	D	0	.	19.8931	0.96937	0.0:1.0:0.0:0.0	.	177;177	Q49A45;P53985	.;MOT1_HUMAN	I	177	ENSP00000358640:S177I;ENSP00000441065:S177I;ENSP00000416167:S177I;ENSP00000445061:S177I;ENSP00000399104:S177I;ENSP00000397106:S177I	ENSP00000358640:S177I	S	-	2	0	SLC16A1	113262021	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	7.767000	0.85331	2.873000	0.98535	0.563000	0.77884	AGC		0.542	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033539.1	NM_003051	
SIKE1	80143	broad.mit.edu	37	1	115323138	115323138	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:115323138C>A	ENST00000060969.5	-	1	160	c.91G>T	c.(91-93)Gat>Tat	p.D31Y	SIKE1_ENST00000506320.1_5'UTR|SIKE1_ENST00000369528.5_Missense_Mutation_p.D31Y			Q9BRV8	SIKE1_HUMAN	suppressor of IKBKE 1	31					innate immune response (GO:0045087)	cytosol (GO:0005829)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						GCCGACTGATCCACCAGCGAC	0.662																																					p.D31Y												.	.	0			c.G91T	1						.						22.0	26.0	25.0					1																	115323138		2194	4287	6481	115124661	SO:0001583	missense	80143	exon1			AK024821	CCDS878.1, CCDS41371.1	1p13.1	2009-08-13			ENSG00000052723	ENSG00000052723			26119	protein-coding gene	gene with protein product	"""suppressor of IKK epsilon"""	611656				16281057	Standard	NM_025073		Approved	FLJ21168, SIKE	uc001efp.4	Q9BRV8	OTTHUMG00000012061	ENST00000060969.5:c.91G>T	1.37:g.115323138C>A	ENSP00000060969:p.Asp31Tyr		115124661	NM_025073	Q5TEZ7|Q5TEZ9|Q68DZ4|Q9H778	Missense_Mutation	SNP	ENST00000060969.5	37	CCDS878.1	.	.	.	.	.	.	.	.	.	.	C	36	5.606955	0.96626	.	.	ENSG00000052723	ENST00000369528;ENST00000060969	.	.	.	5.39	5.39	0.77823	.	0.046724	0.85682	D	0.000000	T	0.68485	0.3006	L	0.40543	1.245	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.74348	0.971;0.983	T	0.70421	-0.4876	9	0.72032	D	0.01	-7.1489	18.9484	0.92630	0.0:1.0:0.0:0.0	.	31;31	Q9BRV8-2;Q9BRV8	.;SIKE1_HUMAN	Y	31	.	ENSP00000060969:D31Y	D	-	1	0	SIKE1	115124661	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.914000	0.75764	2.791000	0.96007	0.655000	0.94253	GAT		0.662	SIKE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033401.1	NM_025073	
VANGL1	81839	broad.mit.edu	37	1	116226648	116226648	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:116226648T>C	ENST00000355485.2	+	6	1301	c.1030T>C	c.(1030-1032)Tat>Cat	p.Y344H	VANGL1_ENST00000474344.1_3'UTR|VANGL1_ENST00000369510.4_Missense_Mutation_p.Y342H|VANGL1_ENST00000369509.1_Missense_Mutation_p.Y344H|VANGL1_ENST00000310260.3_Missense_Mutation_p.Y344H	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	344					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)		p.Y344H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CAACGAGTTGTATTATGAAGA	0.517																																					p.Y342H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1024C	1						.						76.0	68.0	71.0					1																	116226648		2203	4300	6503	116028171	SO:0001583	missense	81839	exon6			AB075805	CCDS883.1, CCDS53350.1	1p13.1	2013-03-05	2013-03-05		ENSG00000173218	ENSG00000173218			15512	protein-coding gene	gene with protein product		610132	"""vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila)"", ""vang-like 1 (van gogh, Drosophila)"""			11956595, 12011995	Standard	NM_001172411		Approved	STB2	uc001efv.1	Q8TAA9	OTTHUMG00000011971	ENST00000355485.2:c.1030T>C	1.37:g.116226648T>C	ENSP00000347672:p.Tyr344His		116028171	NM_001172411	Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Missense_Mutation	SNP	ENST00000355485.2	37	CCDS883.1	.	.	.	.	.	.	.	.	.	.	T	19.99	3.928768	0.73327	.	.	ENSG00000173218	ENST00000355485;ENST00000369510;ENST00000310260;ENST00000369509	D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89	4.58	4.58	0.56647	.	0.133611	0.53938	D	0.000055	D	0.88633	0.6489	M	0.84511	2.7	0.58432	D	0.999995	P;P	0.51933	0.937;0.949	P;P	0.54210	0.628;0.745	D	0.90816	0.4705	10	0.87932	D	0	0.0629	14.1543	0.65407	0.0:0.0:0.0:1.0	.	342;344	Q8TAA9-2;Q8TAA9	.;VANG1_HUMAN	H	344;342;344;344	ENSP00000347672:Y344H;ENSP00000358523:Y342H;ENSP00000310800:Y344H;ENSP00000358522:Y344H	ENSP00000310800:Y344H	Y	+	1	0	VANGL1	116028171	1.000000	0.71417	0.999000	0.59377	0.353000	0.29299	7.518000	0.81795	1.916000	0.55485	0.451000	0.29950	TAT		0.517	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033096.1		
PTGFRN	5738	broad.mit.edu	37	1	117491875	117491875	+	Silent	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:117491875C>A	ENST00000393203.2	+	4	1041	c.894C>A	c.(892-894)acC>acA	p.T298T		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	298	Ig-like C2-type 3.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.T298T(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TGGACCTGACCTGTAACATCA	0.522																																					p.T298T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C894A	1						.						109.0	99.0	102.0					1																	117491875		2203	4300	6503	117293398	SO:0001819	synonymous_variant	5738	exon4			AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.894C>A	1.37:g.117491875C>A			117293398	NM_020440	Q5VVU9|Q8N2K6	Silent	SNP	ENST00000393203.2	37	CCDS890.1																																																																																				0.522	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440	
PLOD1	5351	broad.mit.edu	37	1	12032997	12032997	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:12032997T>C	ENST00000196061.4	+	18	1998	c.1971T>C	c.(1969-1971)caT>caC	p.H657H	PLOD1_ENST00000376369.3_Silent_p.H704H	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	657	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)	p.H657H(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	TGCCACACCATGATGCCTCCA	0.612																																					p.H657H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1971C	1						.						154.0	120.0	132.0					1																	12032997		2203	4300	6503	11955584	SO:0001819	synonymous_variant	5351	exon18			BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"""lysyl hydroxlase 1"""	153454	"""procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"""	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.1971T>C	1.37:g.12032997T>C			11955584	NM_000302	B4DR87|Q96AV9|Q9H132	Silent	SNP	ENST00000196061.4	37	CCDS142.1																																																																																				0.612	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1	NM_000302	
WARS2	10352	broad.mit.edu	37	1	119575579	119575579	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:119575579T>C	ENST00000235521.4	-	6	1064	c.1038A>G	c.(1036-1038)gcA>gcG	p.A346A	WARS2_ENST00000369426.5_3'UTR|WARS2_ENST00000537870.1_Silent_p.A252A	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	346					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)	p.A346A(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	ACACAGTGTATGCTAATTCTT	0.413																																					p.A346A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1038G	1						.						88.0	89.0	89.0					1																	119575579		2203	4300	6503	119377102	SO:0001819	synonymous_variant	10352	exon6			BC021722	CCDS900.1, CCDS30817.1	1p12	2011-07-01	2007-02-23		ENSG00000116874	ENSG00000116874	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12730	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 2, mitochondrial"""	604733				10072595, 10828066	Standard	NM_201263		Approved	TrpRS	uc001ehn.3	Q9UGM6	OTTHUMG00000012335	ENST00000235521.4:c.1038A>G	1.37:g.119575579T>C			119377102	NM_015836	B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0	Silent	SNP	ENST00000235521.4	37	CCDS900.1																																																																																				0.413	WARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034362.1	NM_015836	
HSD3B1	3283	broad.mit.edu	37	1	120050232	120050232	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:120050232G>A	ENST00000369413.3	+	2	278	c.133G>A	c.(133-135)Gag>Aag	p.E45K	HSD3B1_ENST00000528909.1_Missense_Mutation_p.E45K|HSD3B1_ENST00000235547.6_Missense_Mutation_p.E47K			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	45					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)	p.E45K(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	AGAATTGAGAGAGGAATTTTC	0.488																																					p.E45K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G133A	1						.						177.0	151.0	160.0					1																	120050232		2203	4300	6503	119851755	SO:0001583	missense	3283	exon2			S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5217	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 1"""	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.133G>A	1.37:g.120050232G>A	ENSP00000358421:p.Glu45Lys		119851755	NM_000862	A8K691|Q14545|Q8IV65	Missense_Mutation	SNP	ENST00000369413.3	37	CCDS903.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.372399	0.24857	.	.	ENSG00000203857	ENST00000531340;ENST00000369413;ENST00000235547;ENST00000528909	D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98	2.91	-1.34	0.09143	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.772033	0.11991	N	0.509787	T	0.53238	0.1784	N	0.17764	0.52	0.09310	N	1	B;B	0.21688	0.014;0.059	B;B	0.32289	0.049;0.143	T	0.50583	-0.8811	10	0.32370	T	0.25	-3.3268	3.3853	0.07269	0.149:0.0:0.3846:0.4664	.	47;45	Q5TDG2;P14060	.;3BHS1_HUMAN	K	45;45;47;45	ENSP00000435999:E45K;ENSP00000358421:E45K;ENSP00000235547:E47K;ENSP00000432268:E45K	ENSP00000235547:E47K	E	+	1	0	HSD3B1	119851755	0.001000	0.12720	0.011000	0.14972	0.087000	0.18053	0.219000	0.17641	-0.041000	0.13558	0.313000	0.20887	GAG		0.488	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	NM_000862	
PRAMEF12	390999	broad.mit.edu	37	1	12836078	12836078	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:12836078G>A	ENST00000357726.4	+	2	707	c.680G>A	c.(679-681)gGc>gAc	p.G227D		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	227					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.G227D(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTACCTGGGCCAGATGAGG	0.522																																					p.G227D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G680A	1						.						145.0	153.0	150.0					1																	12836078		2203	4300	6503	12758665	SO:0001583	missense	390999	exon2				CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"""-"""	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.680G>A	1.37:g.12836078G>A	ENSP00000350358:p.Gly227Asp		12758665	NM_001080830		Missense_Mutation	SNP	ENST00000357726.4	37	CCDS41254.1	.	.	.	.	.	.	.	.	.	.	.	17.71	3.456034	0.63401	.	.	ENSG00000116726	ENST00000357726	T	0.14516	2.5	2.65	2.65	0.31530	.	0.436187	0.22732	N	0.056301	T	0.40546	0.1121	M	0.90977	3.165	0.28257	N	0.924984	D	0.89917	1.0	D	0.80764	0.994	T	0.24440	-1.0160	10	0.62326	D	0.03	.	8.9281	0.35652	0.0:0.0:1.0:0.0	.	227	O95522	PRA12_HUMAN	D	227	ENSP00000350358:G227D	ENSP00000350358:G227D	G	+	2	0	PRAMEF12	12758665	0.653000	0.27358	0.611000	0.29010	0.427000	0.31564	1.577000	0.36515	1.772000	0.52199	0.313000	0.20887	GGC		0.522	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760	
NOTCH2	4853	broad.mit.edu	37	1	120483366	120483366	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:120483366C>A	ENST00000256646.2	-	19	3214	c.2995G>T	c.(2995-2997)Ggt>Tgt	p.G999C		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	999	EGF-like 26; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.G999C(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATGTGCCACCATTGAAACAG	0.438			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																												p.G999C			Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2995T	1						.						118.0	91.0	100.0					1																	120483366		2203	4300	6503	120284889	SO:0001583	missense	4853	exon19	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.2995G>T	1.37:g.120483366C>A	ENSP00000256646:p.Gly999Cys		120284889	NM_024408	Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.662549	0.67700	.	.	ENSG00000134250	ENST00000256646	D	0.96651	-4.08	5.69	5.69	0.88448	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.38548	U	0.001643	D	0.99023	0.9666	H	0.98256	4.185	0.49483	D	0.999798	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.99395	1.0926	10	0.87932	D	0	.	18.809	0.92050	0.0:1.0:0.0:0.0	.	999;999	Q6IQ50;Q04721	.;NOTC2_HUMAN	C	999	ENSP00000256646:G999C	ENSP00000256646:G999C	G	-	1	0	NOTCH2	120284889	0.986000	0.35501	1.000000	0.80357	0.899000	0.52679	2.258000	0.43249	2.688000	0.91661	0.563000	0.77884	GGT		0.438	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408	
PDE4DIP	9659	broad.mit.edu	37	1	144877057	144877057	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:144877057G>A	ENST00000369354.3	-	28	4819	c.4630C>T	c.(4630-4632)Ctc>Ttc	p.L1544F	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.L1680F|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.L1544F|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.L1500F|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.L1680F|PDE4DIP_ENST00000524974.1_5'UTR|AL138796.1_ENST00000582173.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1544					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.L1544F(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTGCTGGTGAGCCTCTCTGTC	0.547			T	PDGFRB	MPD																																p.L1500F			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4498T	1						.						25.0	26.0	26.0					1																	144877057		2203	4299	6502	143588414	SO:0001583	missense	9659	exon31			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4630C>T	1.37:g.144877057G>A	ENSP00000358360:p.Leu1544Phe		143588414	NM_001198832	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336815	0.60963	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.05081	3.5;3.53;3.58;3.63;3.6	5.18	5.18	0.71444	.	.	.	.	.	T	0.18130	0.0435	M	0.75447	2.3	0.80722	D	1	D;P	0.89917	1.0;0.671	D;B	0.77004	0.989;0.207	T	0.00186	-1.1942	9	0.72032	D	0.01	.	16.2268	0.82300	0.0:0.0:1.0:0.0	.	1500;1544	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	F	1500;1544;1544;1680;1680	ENSP00000327209:L1500F;ENSP00000358360:L1544F;ENSP00000358363:L1544F;ENSP00000435654:L1680F;ENSP00000358366:L1680F	ENSP00000327209:L1500F	L	-	1	0	PDE4DIP	143588414	1.000000	0.71417	0.960000	0.40013	0.939000	0.58152	4.267000	0.58877	2.695000	0.91970	0.650000	0.86243	CTC		0.547	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359	
FMO5	2330	broad.mit.edu	37	1	146672987	146672987	+	Silent	SNP	T	T	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:146672987T>G	ENST00000254090.4	-	7	1318	c.930A>C	c.(928-930)acA>acC	p.T310T	RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.10_ENST00000606856.1_RNA|FMO5_ENST00000369272.3_Intron|RP11-337C18.8_ENST00000607149.1_RNA|FMO5_ENST00000441068.2_Silent_p.T310T	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	310						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.T310T(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					ATATGGCAGCTGTCTCCGTGA	0.453																																					p.T310T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A930C	1						.						74.0	70.0	71.0					1																	146672987		2203	4300	6503	145139611	SO:0001819	synonymous_variant	2330	exon7			Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.930A>C	1.37:g.146672987T>G			145139611	NM_001461	B2RBG1|C9JJD1|Q8IV22	Silent	SNP	ENST00000254090.4	37	CCDS926.1																																																																																				0.453	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040373.2	NM_001461	
BCL9	607	broad.mit.edu	37	1	147096029	147096029	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:147096029C>A	ENST00000234739.3	+	10	4290	c.3550C>A	c.(3550-3552)Ccc>Acc	p.P1184T		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1184	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.P1184T(1)		breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CAGCAACCTGCCCCAAAGTTC	0.627			T	"""IGH@, IGL@"""	B-ALL																																p.P1184T			Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3550A	1						.						33.0	36.0	35.0					1																	147096029		2203	4300	6503	145562653	SO:0001583	missense	607	exon10			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.3550C>A	1.37:g.147096029C>A	ENSP00000234739:p.Pro1184Thr		145562653	NM_004326	Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.080169	0.55753	.	.	ENSG00000116128	ENST00000234739	T	0.57273	0.41	5.2	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.31071	0.0785	L	0.36672	1.1	0.53005	D	0.99996	P;P	0.37061	0.58;0.58	B;B	0.37601	0.254;0.188	T	0.32613	-0.9900	10	0.62326	D	0.03	-8.7422	14.0531	0.64749	0.0:0.927:0.0:0.073	.	1184;1184	Q1JQ81;O00512	.;BCL9_HUMAN	T	1184	ENSP00000234739:P1184T	ENSP00000234739:P1184T	P	+	1	0	BCL9	145562653	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.619000	0.54196	1.336000	0.45506	0.655000	0.94253	CCC		0.627	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326	
HIST2H2AB	317772	broad.mit.edu	37	1	149859178	149859178	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:149859178A>G	ENST00000331128.3	-	1	288	c.289T>C	c.(289-291)Tta>Cta	p.L97L	BOLA1_ENST00000369153.2_5'Flank|HIST2H2BE_ENST00000369155.2_5'Flank	NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	97						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L97L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CCCCCGAGTAACTTGTTGAGC	0.577																																					p.L97L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T289C	1						.						111.0	104.0	106.0					1																	149859178		2203	4300	6503	148125802	SO:0001819	synonymous_variant	317772	exon1			AY131972	CCDS938.1	1q21.2	2011-01-27	2006-10-11		ENSG00000184270	ENSG00000184270		"""Histones / Replication-dependent"""	20508	protein-coding gene	gene with protein product		615014	"""histone 2, H2ab"""			12408966	Standard	NM_175065		Approved		uc001ete.3	Q8IUE6	OTTHUMG00000012085	ENST00000331128.3:c.289T>C	1.37:g.149859178A>G			148125802	NM_175065		Silent	SNP	ENST00000331128.3	37	CCDS938.1																																																																																				0.577	HIST2H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033440.1	NM_175065	
HIST2H2AB	317772	broad.mit.edu	37	1	149859360	149859360	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:149859360C>T	ENST00000331128.3	-	1	106	c.107G>A	c.(106-108)cGc>cAc	p.R36H	BOLA1_ENST00000369153.2_5'Flank|HIST2H2BE_ENST00000369155.2_5'Flank	NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	36						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R36H(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GTTGCCTTTGCGCAGCAAGCG	0.701																																					p.R36H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G107A	1						.						45.0	52.0	50.0					1																	149859360		2202	4298	6500	148125984	SO:0001583	missense	317772	exon1			AY131972	CCDS938.1	1q21.2	2011-01-27	2006-10-11		ENSG00000184270	ENSG00000184270		"""Histones / Replication-dependent"""	20508	protein-coding gene	gene with protein product		615014	"""histone 2, H2ab"""			12408966	Standard	NM_175065		Approved		uc001ete.3	Q8IUE6	OTTHUMG00000012085	ENST00000331128.3:c.107G>A	1.37:g.149859360C>T	ENSP00000332790:p.Arg36His		148125984	NM_175065		Missense_Mutation	SNP	ENST00000331128.3	37	CCDS938.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192814	0.78902	.	.	ENSG00000184270	ENST00000331128	T	0.52057	0.68	5.27	5.27	0.74061	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.85682	D	0.000000	T	0.47544	0.1451	M	0.90198	3.095	0.58432	D	0.999999	B	0.27264	0.173	B	0.23852	0.049	T	0.58177	-0.7682	10	0.72032	D	0.01	.	16.7454	0.85470	0.0:1.0:0.0:0.0	.	36	Q8IUE6	H2A2B_HUMAN	H	36	ENSP00000332790:R36H	ENSP00000332790:R36H	R	-	2	0	HIST2H2AB	148125984	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	6.091000	0.71406	2.621000	0.88768	0.655000	0.94253	CGC		0.701	HIST2H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033440.1	NM_175065	
SV2A	9900	broad.mit.edu	37	1	149877581	149877581	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:149877581G>A	ENST00000369146.3	-	12	2386	c.1896C>T	c.(1894-1896)agC>agT	p.S632S	SV2A_ENST00000369145.1_Silent_p.S632S	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	632					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)	p.S632S(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	AGGACATCACGCTGGAGCCAG	0.572																																					p.S632S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1896T	1						.						81.0	65.0	71.0					1																	149877581		2203	4300	6503	148144205	SO:0001819	synonymous_variant	9900	exon12			AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.1896C>T	1.37:g.149877581G>A			148144205	NM_014849	D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Silent	SNP	ENST00000369146.3	37	CCDS940.1																																																																																				0.572	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1		
ADAMTSL4	54507	broad.mit.edu	37	1	150530505	150530505	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:150530505T>G	ENST00000369038.2	+	12	2463	c.2262T>G	c.(2260-2262)ttT>ttG	p.F754L	ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.F777L|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.F754L|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.F754L			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	754	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)	p.F754L(1)		breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GGCAGGAATTTGGGGGGGGTG	0.697																																					p.F754L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2262G	1						.						41.0	48.0	46.0					1																	150530505		2137	4190	6327	148797129	SO:0001583	missense	54507	exon14			BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.2262T>G	1.37:g.150530505T>G	ENSP00000358034:p.Phe754Leu		148797129	NM_019032	B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	37	CCDS955.1	.	.	.	.	.	.	.	.	.	.	T	19.68	3.872296	0.72180	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000407995;ENST00000369039;ENST00000369038	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.92	1.15	0.20763	.	.	.	.	.	T	0.27169	0.0666	N	0.04655	-0.195	0.51233	D	0.999918	P;P;D;P	0.53462	0.931;0.486;0.96;0.897	P;B;P;B	0.59357	0.676;0.356;0.856;0.438	T	0.15983	-1.0418	9	0.44086	T	0.13	.	8.197	0.31402	0.0:0.4336:0.0:0.5664	.	715;777;754;754	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	L	754;754;292;777;754	ENSP00000358037:F754L;ENSP00000271643:F754L;ENSP00000358035:F777L;ENSP00000358034:F754L	ENSP00000271643:F754L	F	+	3	2	ADAMTSL4	148797129	0.944000	0.32072	0.976000	0.42696	0.566000	0.35808	0.013000	0.13310	0.163000	0.19507	0.459000	0.35465	TTT		0.697	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032	
CTSS	1520	broad.mit.edu	37	1	150724393	150724393	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:150724393G>A	ENST00000368985.3	-	5	751	c.491C>T	c.(490-492)gCc>gTc	p.A164V	CTSS_ENST00000448301.2_Missense_Mutation_p.A114V|CTSS_ENST00000480760.1_5'UTR	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	164					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|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-independent (GO:0002480)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|basement membrane disassembly (GO:0034769)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of inflammatory response (GO:0050729)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.A164V(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			CAGGTTCTGGGCACTGAGAGA	0.498																																					p.A164V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C491T	1						.						167.0	152.0	157.0					1																	150724393		2203	4300	6503	148991017	SO:0001583	missense	1520	exon5			M90696	CCDS968.1, CCDS55634.1	1q21	2008-02-05			ENSG00000163131	ENSG00000163131	3.4.22.27	"""Cathepsins"""	2545	protein-coding gene	gene with protein product		116845				1373132	Standard	NM_001199739		Approved		uc001evn.3	P25774	OTTHUMG00000035010	ENST00000368985.3:c.491C>T	1.37:g.150724393G>A	ENSP00000357981:p.Ala164Val		148991017	NM_004079	B4DWC9|D3DV05|Q5T5I0|Q6FHS5|Q9BUG3	Missense_Mutation	SNP	ENST00000368985.3	37	CCDS968.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.034240	0.54896	.	.	ENSG00000163131	ENST00000448301;ENST00000368985	D;D	0.87412	-2.25;-2.25	5.34	4.42	0.53409	Peptidase C1A, papain C-terminal (2);	0.101779	0.64402	D	0.000002	T	0.66963	0.2843	N	0.05306	-0.075	0.31033	N	0.717141	D;B	0.60575	0.988;0.083	P;B	0.45037	0.467;0.04	T	0.71265	-0.4644	10	0.62326	D	0.03	.	14.4981	0.67702	0.0:0.0:0.852:0.148	.	114;164	B4DWC9;P25774	.;CATS_HUMAN	V	114;164	ENSP00000408414:A114V;ENSP00000357981:A164V	ENSP00000357981:A164V	A	-	2	0	CTSS	148991017	0.807000	0.29009	1.000000	0.80357	0.993000	0.82548	2.622000	0.46427	1.370000	0.46153	0.650000	0.86243	GCC		0.498	CTSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084737.1	NM_004079	
RORC	6097	broad.mit.edu	37	1	151787475	151787475	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:151787475C>A	ENST00000318247.6	-	5	832	c.725G>T	c.(724-726)gGg>gTg	p.G242V	RORC_ENST00000480719.1_5'Flank|RORC_ENST00000392697.3_Missense_Mutation_p.G296V|RORC_ENST00000356728.6_Missense_Mutation_p.G221V	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	242	Hinge. {ECO:0000255}.				adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.G242V(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCCCAGTTCCCCAAGCCCAGG	0.617																																					p.G221V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G662T	1						.						62.0	57.0	59.0					1																	151787475		2203	4300	6503	150054099	SO:0001583	missense	6097	exon4			U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"""Nuclear hormone receptors"""	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.725G>T	1.37:g.151787475C>A	ENSP00000327025:p.Gly242Val		150054099	NM_001001523	Q5SZR9|Q8N5V7|Q8NCY8	Missense_Mutation	SNP	ENST00000318247.6	37	CCDS1004.1	.	.	.	.	.	.	.	.	.	.	C	7.543	0.661017	0.14645	.	.	ENSG00000143365	ENST00000356728;ENST00000392697;ENST00000318247	D;D;D	0.94457	-3.39;-3.43;-3.4	5.43	3.39	0.38822	.	1.143830	0.06513	U	0.738333	D	0.85544	0.5721	L	0.51422	1.61	0.54753	D	0.999984	B;B;B;B	0.25609	0.13;0.024;0.004;0.004	B;B;B;B	0.24974	0.057;0.044;0.004;0.004	T	0.77892	-0.2418	10	0.17832	T	0.49	.	6.1975	0.20557	0.0:0.7093:0.1859:0.1048	.	242;296;242;221	B6ZGS6;B4DPR1;P51449;F1D8P6	.;.;RORG_HUMAN;.	V	221;296;242	ENSP00000349164:G221V;ENSP00000376461:G296V;ENSP00000327025:G242V	ENSP00000327025:G242V	G	-	2	0	RORC	150054099	0.948000	0.32251	0.929000	0.37066	0.073000	0.16967	1.127000	0.31357	1.213000	0.43380	0.563000	0.77884	GGG		0.617	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036626.1		
TCHHL1	126637	broad.mit.edu	37	1	152057747	152057747	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:152057747T>C	ENST00000368806.1	-	3	2475	c.2411A>G	c.(2410-2412)tAc>tGc	p.Y804C		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	804							calcium ion binding (GO:0005509)	p.Y804C(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTCCTGTAGGTACTGGTATAG	0.493																																					p.Y804C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2411G	1						.						251.0	229.0	236.0					1																	152057747		2203	4300	6503	150324371	SO:0001583	missense	126637	exon3				CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.2411A>G	1.37:g.152057747T>C	ENSP00000357796:p.Tyr804Cys		150324371	NM_001008536	B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	13.40	2.227144	0.39399	.	.	ENSG00000182898	ENST00000368806	T	0.28255	1.62	4.89	1.1	0.20463	.	3.114740	0.01257	N	0.009055	T	0.22513	0.0543	L	0.47716	1.5	0.09310	N	1	D	0.76494	0.999	P	0.61328	0.887	T	0.04103	-1.0977	10	0.38643	T	0.18	2.9476	1.6523	0.02774	0.1703:0.0956:0.1772:0.5569	.	804	Q5QJ38	TCHL1_HUMAN	C	804	ENSP00000357796:Y804C	ENSP00000357796:Y804C	Y	-	2	0	TCHHL1	150324371	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	0.014000	0.13333	-0.067000	0.12976	0.533000	0.62120	TAC		0.493	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104	
TCHHL1	126637	broad.mit.edu	37	1	152058972	152058972	+	Missense_Mutation	SNP	C	C	A	rs535818124		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:152058972C>A	ENST00000368806.1	-	3	1250	c.1186G>T	c.(1186-1188)Ggt>Tgt	p.G396C		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	396							calcium ion binding (GO:0005509)	p.G396C(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GCCTCAGGACCTCTCCTCTCT	0.468																																					p.G396C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1186T	1						.						149.0	145.0	146.0					1																	152058972		2203	4300	6503	150325596	SO:0001583	missense	126637	exon3				CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.1186G>T	1.37:g.152058972C>A	ENSP00000357796:p.Gly396Cys		150325596	NM_001008536	B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	14.83	2.651921	0.47362	.	.	ENSG00000182898	ENST00000368806	T	0.28255	1.62	5.08	-2.7	0.06004	.	1.482830	0.04366	N	0.358359	T	0.18551	0.0445	L	0.50333	1.59	0.09310	N	1	D	0.64830	0.994	P	0.51355	0.667	T	0.16660	-1.0395	10	0.56958	D	0.05	7.1199	6.1536	0.20326	0.0:0.3892:0.1341:0.4767	.	396	Q5QJ38	TCHL1_HUMAN	C	396	ENSP00000357796:G396C	ENSP00000357796:G396C	G	-	1	0	TCHHL1	150325596	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.515000	0.06290	-0.381000	0.07882	0.650000	0.86243	GGT		0.468	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104	
TCHH	7062	broad.mit.edu	37	1	152081835	152081835	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:152081835C>A	ENST00000368804.1	-	2	3857	c.3858G>T	c.(3856-3858)tgG>tgT	p.W1286C		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1286					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.W1286C(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGCGCTGCTGCCAGCGCCTCC	0.567																																					p.W1286C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3858T	1						.						103.0	106.0	105.0					1																	152081835		1999	4154	6153	150348459	SO:0001583	missense	7062	exon2			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3858G>T	1.37:g.152081835C>A	ENSP00000357794:p.Trp1286Cys		150348459	NM_007113	Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757926	0.49468	.	.	ENSG00000159450	ENST00000368804	T	0.05447	3.44	3.97	-1.28	0.09318	.	.	.	.	.	T	0.01695	0.0054	N	0.19112	0.55	0.09310	N	1	D	0.56521	0.976	P	0.49252	0.604	T	0.39702	-0.9601	9	0.54805	T	0.06	.	1.0807	0.01642	0.166:0.2854:0.3269:0.2217	.	1286	Q07283	TRHY_HUMAN	C	1286	ENSP00000357794:W1286C	ENSP00000357794:W1286C	W	-	3	0	TCHH	150348459	0.000000	0.05858	0.200000	0.23457	0.884000	0.51177	0.019000	0.13444	0.140000	0.18849	0.563000	0.77884	TGG		0.567	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113	
TCHH	7062	broad.mit.edu	37	1	152085295	152085295	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:152085295G>A	ENST00000368804.1	-	2	397	c.398C>T	c.(397-399)cCt>cTt	p.P133L		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	133					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.P133L(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCGTTGCCCAGGTTCTTCTTC	0.567																																					p.P133L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C398T	1						.						259.0	252.0	254.0					1																	152085295		2012	4171	6183	150351919	SO:0001583	missense	7062	exon2			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.398C>T	1.37:g.152085295G>A	ENSP00000357794:p.Pro133Leu		150351919	NM_007113	Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	g	0.054	-1.242345	0.01481	.	.	ENSG00000159450	ENST00000368804	T	0.04917	3.53	2.35	0.403	0.16350	.	.	.	.	.	T	0.00875	0.0029	N	0.08118	0	0.09310	N	1	B	0.22800	0.075	B	0.12156	0.007	T	0.47522	-0.9111	9	0.42905	T	0.14	4.1339	3.5549	0.07861	0.16:0.266:0.5739:0.0	.	133	Q07283	TRHY_HUMAN	L	133	ENSP00000357794:P133L	ENSP00000357794:P133L	P	-	2	0	TCHH	150351919	0.003000	0.15002	0.002000	0.10522	0.011000	0.07611	-0.341000	0.07811	0.102000	0.17638	-0.273000	0.10243	CCT		0.567	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113	
KPRP	448834	broad.mit.edu	37	1	152732460	152732460	+	Silent	SNP	C	C	T	rs146826460		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:152732460C>T	ENST00000606109.1	+	1	424	c.396C>T	c.(394-396)ttC>ttT	p.F132F	KPRP_ENST00000368773.1_Silent_p.F132F			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	132	Gln-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.F132L(1)|p.F132F(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACTTGCTTCGTAGAATGTG	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		23027	0.0		0.001	False		,,,				2504	0.0				p.F132F												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	c.C396T	1						.						222.0	212.0	215.0					1																	152732460		2203	4300	6503	150999084	SO:0001819	synonymous_variant	448834	exon2			AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.396C>T	1.37:g.152732460C>T			150999084	NM_001025231		Silent	SNP	ENST00000606109.1	37	CCDS30862.1																																																																																				0.478	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231	
CHTOP	26097	broad.mit.edu	37	1	153614822	153614822	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:153614822T>C	ENST00000368694.3	+	4	632	c.320T>C	c.(319-321)aTa>aCa	p.I107T	CHTOP_ENST00000368687.1_Missense_Mutation_p.I82T|CHTOP_ENST00000368686.1_Missense_Mutation_p.I68T|CHTOP_ENST00000495554.1_Intron|CHTOP_ENST00000368690.3_Missense_Mutation_p.I107T|CHTOP_ENST00000403433.1_Missense_Mutation_p.I107T	NM_001206612.1|NM_015607.3	NP_001193541.1|NP_056422.2	Q9Y3Y2	CHTOP_HUMAN	chromatin target of PRMT1	107	Arg/Gly-rich.				mRNA export from nucleus (GO:0006406)|positive regulation of ATPase activity (GO:0032781)|positive regulation of helicase activity (GO:0051096)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|transcription export complex (GO:0000346)	poly(A) RNA binding (GO:0044822)	p.I107T(1)		endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(6)	13						GGCCTACCCATAATCCAGAGA	0.612																																					p.I107T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T320C	1						.						77.0	73.0	74.0					1																	153614822		2203	4300	6503	151881446	SO:0001583	missense	26097	exon4				CCDS1048.1, CCDS72917.1, CCDS72918.1	1q21.3	2011-03-24	2011-03-24	2011-03-24	ENSG00000160679	ENSG00000160679			24511	protein-coding gene	gene with protein product	"""small protein rich in arginine and glycine"", ""Friend of Prmt1"""	614206	"""chromosome 1 open reading frame 77"""	C1orf77		19254951	Standard	NM_015607		Approved	DKFZP547E1010, SRAG, FOP	uc001fcn.2	Q9Y3Y2	OTTHUMG00000037052	ENST00000368694.3:c.320T>C	1.37:g.153614822T>C	ENSP00000357683:p.Ile107Thr		151881446	NM_015607	D3DV55|Q0VAQ8|Q2VPI9|Q5T7Y8|Q5T7Y9|Q5T7Z0|Q6NSM4|Q6PB28|Q8WYT9|Q9BUC5|Q9H034|Q9H2L0	Missense_Mutation	SNP	ENST00000368694.3	37	CCDS1048.1	.	.	.	.	.	.	.	.	.	.	T	2.649	-0.282354	0.05642	.	.	ENSG00000160679	ENST00000368694;ENST00000403433;ENST00000368690;ENST00000368687;ENST00000368686	.	.	.	5.64	5.64	0.86602	.	0.125711	0.53938	D	0.000051	T	0.19005	0.0456	N	0.08118	0	0.34794	D	0.736038	B;B;B	0.27700	0.009;0.186;0.117	B;B;B	0.19666	0.007;0.026;0.012	T	0.16660	-1.0395	9	0.62326	D	0.03	-1.0314	13.8576	0.63537	0.0:0.0:0.0:1.0	.	107;108;107	Q9Y3Y2-4;Q9Y3Y2-3;Q9Y3Y2	.;.;CHTOP_HUMAN	T	107;107;107;82;68	.	ENSP00000357675:I68T	I	+	2	0	CHTOP	151881446	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.250000	0.65432	2.367000	0.80283	0.528000	0.53228	ATA		0.612	CHTOP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089967.1	NM_015607	
C1orf189	388701	broad.mit.edu	37	1	154172990	154172990	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:154172990C>A	ENST00000368525.3	-	3	174	c.149G>T	c.(148-150)aGg>aTg	p.R50M		NM_001010979.1	NP_001010979.1	Q5VU69	CA189_HUMAN	chromosome 1 open reading frame 189	50								p.R50M(1)		kidney(1)|large_intestine(3)|lung(1)|skin(2)	7	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					GTCCTGCATCCTTAGGGTGGC	0.507																																					p.R50M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G149T	1						.						312.0	279.0	290.0					1																	154172990		2203	4300	6503	152439614	SO:0001583	missense	388701	exon3				CCDS30876.1	1q21.3	2012-07-27			ENSG00000163263	ENSG00000163263			32305	protein-coding gene	gene with protein product							Standard	NM_001010979		Approved		uc001fee.2	Q5VU69	OTTHUMG00000035982	ENST00000368525.3:c.149G>T	1.37:g.154172990C>A	ENSP00000357511:p.Arg50Met		152439614	NM_001010979	A1L4E3	Missense_Mutation	SNP	ENST00000368525.3	37	CCDS30876.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.382670	0.42207	.	.	ENSG00000163263	ENST00000368525	.	.	.	4.82	2.91	0.33838	.	0.104988	0.64402	D	0.000002	T	0.38612	0.1047	L	0.56769	1.78	0.31255	N	0.693613	D	0.59357	0.985	P	0.54026	0.74	T	0.30504	-0.9976	9	0.66056	D	0.02	.	7.6919	0.28573	0.0:0.8031:0.0:0.1969	.	50	Q5VU69	CA189_HUMAN	M	50	.	ENSP00000357511:R50M	R	-	2	0	C1orf189	152439614	0.605000	0.26941	0.998000	0.56505	0.858000	0.48976	0.757000	0.26433	1.254000	0.44035	-0.254000	0.11334	AGG		0.507	C1orf189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087672.1	NM_001010979	
IL6R	3570	broad.mit.edu	37	1	154437635	154437635	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:154437635G>A	ENST00000368485.3	+	10	1623	c.1186G>A	c.(1186-1188)Gct>Act	p.A396T	IL6R_ENST00000344086.4_Silent_p.G364G|IL6R_ENST00000507256.1_3'UTR	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	396					acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)	p.A396T(1)	IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	GAAGCTGCGGGCTCTGAAGGA	0.547																																					p.A396T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1186A	1						.						114.0	109.0	111.0					1																	154437635		2203	4300	6503	152704259	SO:0001583	missense	3570	exon10			X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.1186G>A	1.37:g.154437635G>A	ENSP00000357470:p.Ala396Thr		152704259	NM_000565	A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Missense_Mutation	SNP	ENST00000368485.3	37	CCDS1067.1	.	.	.	.	.	.	.	.	.	.	G	8.354	0.831656	0.16820	.	.	ENSG00000160712	ENST00000368485	T	0.21031	2.03	4.92	0.879	0.19155	.	1.034030	0.07645	N	0.930940	T	0.05318	0.0141	.	.	.	0.22156	N	0.999324	P	0.49253	0.921	B	0.38880	0.284	T	0.29701	-1.0003	9	0.66056	D	0.02	-10.6355	3.795	0.08736	0.1818:0.0:0.4806:0.3376	.	396	P08887	IL6RA_HUMAN	T	396	ENSP00000357470:A396T	ENSP00000357470:A396T	A	+	1	0	IL6R	152704259	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	0.120000	0.15647	0.013000	0.14918	-0.873000	0.02984	GCT		0.547	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087911.1	NM_000565	
ADAR	103	broad.mit.edu	37	1	154575096	154575096	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:154575096A>T	ENST00000368474.4	-	2	221	c.22T>A	c.(22-24)Tcc>Acc	p.S8T	ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000292205.5_Missense_Mutation_p.S51T|ADAR_ENST00000471068.1_5'UTR	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	8					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S8T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CCGCTGAGGGAATACCCCTGC	0.532																																					p.S8T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T22A	1						.						42.0	43.0	43.0					1																	154575096		2193	4285	6478	152841720	SO:0001583	missense	103	exon2			BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.22T>A	1.37:g.154575096A>T	ENSP00000357459:p.Ser8Thr		152841720	NM_015841	B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	A	13.14	2.149387	0.37923	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000529168	T;T;T	0.17691	2.26;2.31;2.37	4.41	1.98	0.26296	.	1.943050	0.02355	N	0.076320	T	0.10680	0.0261	L	0.27053	0.805	0.21652	N	0.999601	D;P;P;B	0.54207	0.965;0.763;0.763;0.118	P;B;B;B	0.55871	0.786;0.153;0.153;0.05	T	0.25082	-1.0142	10	0.66056	D	0.02	-4.0713	6.3051	0.21135	0.7928:0.0:0.2072:0.0	.	8;8;8;8	A2IBT1;P55265-3;P55265-2;P55265	.;.;.;DSRAD_HUMAN	T	51;8;3	ENSP00000292205:S51T;ENSP00000357459:S8T;ENSP00000431794:S3T	ENSP00000292205:S51T	S	-	1	0	ADAR	152841720	0.705000	0.27846	0.547000	0.28179	0.023000	0.10783	0.957000	0.29215	0.283000	0.22279	0.459000	0.35465	TCC		0.532	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111	
PBXIP1	57326	broad.mit.edu	37	1	154917522	154917522	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:154917522T>C	ENST00000368463.3	-	11	2245	c.2174A>G	c.(2173-2175)cAc>cGc	p.H725R	PBXIP1_ENST00000539880.1_Missense_Mutation_p.H552R|PBXIP1_ENST00000498553.1_5'Flank|PBXIP1_ENST00000368465.1_Missense_Mutation_p.H696R|PBXIP1_ENST00000542459.1_Missense_Mutation_p.H570R	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	725	His-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.H725R(1)		breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTGGTGGTGGTGGCTATGGCT	0.642																																					p.H725R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2174G	1						.						110.0	98.0	102.0					1																	154917522		2203	4300	6503	153184146	SO:0001583	missense	57326	exon11			AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"""pre-B-cell leukemia transcription factor interacting protein 1"""			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.2174A>G	1.37:g.154917522T>C	ENSP00000357448:p.His725Arg		153184146	NM_020524	Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Missense_Mutation	SNP	ENST00000368463.3	37	CCDS1074.1	.	.	.	.	.	.	.	.	.	.	T	3.221	-0.159472	0.06544	.	.	ENSG00000163346	ENST00000368465;ENST00000368463;ENST00000351146;ENST00000539880;ENST00000543593;ENST00000542459	T;T;T;T	0.37235	1.21;1.21;1.21;1.21	2.81	-5.62	0.02481	.	1.347340	0.05015	N	0.471686	T	0.04003	0.0112	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19095	-1.0316	10	0.15499	T	0.54	.	6.2785	0.20993	0.0:0.2364:0.195:0.5687	.	725	Q96AQ6	PBIP1_HUMAN	R	696;725;656;552;501;570	ENSP00000357450:H696R;ENSP00000357448:H725R;ENSP00000440142:H552R;ENSP00000438584:H570R	ENSP00000295523:H656R	H	-	2	0	PBXIP1	153184146	0.001000	0.12720	0.001000	0.08648	0.415000	0.31203	-0.376000	0.07465	-2.613000	0.00444	-0.580000	0.04137	CAC		0.642	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1	NM_020524	
FLAD1	80308	broad.mit.edu	37	1	154960826	154960826	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:154960826A>G	ENST00000292180.3	+	2	940	c.618A>G	c.(616-618)gaA>gaG	p.E206E	FLAD1_ENST00000315144.10_Silent_p.E109E|FLAD1_ENST00000368428.1_5'Flank|FLAD1_ENST00000368432.1_Silent_p.E109E|FLAD1_ENST00000368433.1_Silent_p.E206E|FLAD1_ENST00000487371.1_3'UTR|FLAD1_ENST00000405236.2_Silent_p.E107E|FLAD1_ENST00000368431.3_Silent_p.E107E|FLAD1_ENST00000295530.2_5'UTR	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	206					FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)	p.E206E(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCAAGTTGGAAGCAGCCACCA	0.582																																					p.E206E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A618G	1						.						90.0	94.0	93.0					1																	154960826		2203	4300	6503	153227450	SO:0001819	synonymous_variant	80308	exon2				CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"""Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)"", ""FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)"", ""flavin adenine dinucleotide synthetase"""				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.618A>G	1.37:g.154960826A>G			153227450	NM_025207	Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Silent	SNP	ENST00000292180.3	37	CCDS1078.1																																																																																				0.582	FLAD1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091089.1	NM_025207	
DCST1	149095	broad.mit.edu	37	1	155014080	155014080	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:155014080C>T	ENST00000295542.1	+	7	835	c.739C>T	c.(739-741)Cgt>Tgt	p.R247C	DCST1_ENST00000423025.2_Missense_Mutation_p.R222C|DCST1_ENST00000392480.1_Missense_Mutation_p.R247C|DCST1_ENST00000368419.2_Missense_Mutation_p.R247C	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	247						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.R247C(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GACCAAGCTGCGTTGCTCCTG	0.622																																					p.R222C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C664T	1						.						66.0	67.0	66.0					1																	155014080		2203	4300	6503	153280704	SO:0001583	missense	149095	exon6			AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.739C>T	1.37:g.155014080C>T	ENSP00000295542:p.Arg247Cys		153280704	NM_001143687	B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	ENST00000295542.1	37	CCDS1083.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450255	0.84101	.	.	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	4.27	4.27	0.50696	.	0.000000	0.64402	D	0.000006	T	0.67627	0.2913	M	0.73598	2.24	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	P;D;P	0.63957	0.877;0.92;0.877	T	0.72792	-0.4186	10	0.87932	D	0	-15.658	14.5995	0.68429	0.0:1.0:0.0:0.0	.	222;272;247	E9PHV3;E9PJX3;Q5T197	.;.;DCST1_HUMAN	C	247;247;222;247	ENSP00000295542:R247C;ENSP00000376271:R247C;ENSP00000387369:R222C;ENSP00000357404:R247C	ENSP00000295542:R247C	R	+	1	0	DCST1	153280704	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.944000	0.63561	2.387000	0.81309	0.462000	0.41574	CGT		0.622	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1	NM_152494	
TRIM46	80128	broad.mit.edu	37	1	155147968	155147968	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:155147968C>T	ENST00000334634.4	+	2	170	c.170C>T	c.(169-171)gCc>gTc	p.A57V	TRIM46_ENST00000368385.4_Missense_Mutation_p.A57V|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000368383.3_Missense_Mutation_p.A57V|TRIM46_ENST00000368382.1_Missense_Mutation_p.A34V|TRIM46_ENST00000392451.2_Missense_Mutation_p.A57V|TRIM46_ENST00000543729.1_Missense_Mutation_p.A64V|KRTCAP2_ENST00000295682.4_5'Flank|KRTCAP2_ENST00000490672.1_5'Flank|TRIM46_ENST00000545012.1_Intron|TRIM46_ENST00000468878.1_3'UTR	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	57						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.A57V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CAGGCCTGTGCCCGAGAGGTC	0.627																																					p.A57V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C170T	1						.						127.0	105.0	112.0					1																	155147968		2203	4300	6503	153414592	SO:0001583	missense	80128	exon2				CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.170C>T	1.37:g.155147968C>T	ENSP00000334657:p.Ala57Val		153414592	NM_025058	A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	ENST00000334634.4	37	CCDS1097.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.967203	0.53507	.	.	ENSG00000163462	ENST00000543729;ENST00000430513;ENST00000368385;ENST00000392451;ENST00000368383;ENST00000368382;ENST00000334634	D;D;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91;-1.91	4.53	4.53	0.55603	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (1);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.80502	0.4635	L	0.28115	0.83	0.80722	D	1	D;B;D;D;B;D	0.76494	0.996;0.41;0.99;0.997;0.098;0.999	D;B;D;D;B;D	0.83275	0.986;0.23;0.966;0.992;0.177;0.996	T	0.78563	-0.2156	10	0.25106	T	0.35	.	8.9019	0.35499	0.0:0.8969:0.0:0.1031	.	44;57;44;34;57;57	F5H5Z2;Q5VT61;B7Z3S2;B1AVQ4;Q7Z4K8;Q7Z4K8-2	.;.;.;.;TRI46_HUMAN;.	V	64;44;57;57;57;34;57	ENSP00000442719:A64V;ENSP00000357369:A57V;ENSP00000376245:A57V;ENSP00000357367:A57V;ENSP00000357366:A34V;ENSP00000334657:A57V	ENSP00000334657:A57V	A	+	2	0	TRIM46	153414592	0.991000	0.36638	1.000000	0.80357	0.981000	0.71138	2.220000	0.42908	2.222000	0.72286	0.650000	0.86243	GCC		0.627	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058	
TRIM46	80128	broad.mit.edu	37	1	155149444	155149444	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:155149444C>A	ENST00000334634.4	+	4	706	c.706C>A	c.(706-708)Cac>Aac	p.H236N	TRIM46_ENST00000368385.4_Missense_Mutation_p.H236N|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000368383.3_Missense_Mutation_p.H236N|TRIM46_ENST00000368382.1_Missense_Mutation_p.H213N|TRIM46_ENST00000392451.2_Missense_Mutation_p.H236N|TRIM46_ENST00000543729.1_Missense_Mutation_p.H243N|TRIM46_ENST00000545012.1_Missense_Mutation_p.H110N|TRIM46_ENST00000468878.1_3'UTR	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	236						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.H236N(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGAGGTGACCCACTACTGCAA	0.567											OREG0013855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.H236N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C706A	1						.						154.0	146.0	149.0					1																	155149444		2203	4300	6503	153416068	SO:0001583	missense	80128	exon4				CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.706C>A	1.37:g.155149444C>A	ENSP00000334657:p.His236Asn	1768	153416068	NM_025058	A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	ENST00000334634.4	37	CCDS1097.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439327	0.63067	.	.	ENSG00000163462	ENST00000543729;ENST00000430513;ENST00000368385;ENST00000545012;ENST00000392451;ENST00000368383;ENST00000368382;ENST00000334634	T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0	5.43	5.43	0.79202	Zinc finger, B-box (3);	0.113203	0.64402	D	0.000008	T	0.33089	0.0851	L	0.36672	1.1	0.36527	D	0.870527	P;P;P;P;P	0.48294	0.908;0.753;0.771;0.753;0.908	B;P;B;P;B	0.51055	0.301;0.657;0.402;0.657;0.394	T	0.24368	-1.0162	10	0.72032	D	0.01	.	12.0989	0.53772	0.1716:0.8284:0.0:0.0	.	223;236;213;236;236	F5H5Z2;Q5VT61;B1AVQ4;Q7Z4K8;Q7Z4K8-2	.;.;.;TRI46_HUMAN;.	N	243;223;236;110;236;236;213;236	ENSP00000442719:H243N;ENSP00000357369:H236N;ENSP00000440254:H110N;ENSP00000376245:H236N;ENSP00000357367:H236N;ENSP00000357366:H213N;ENSP00000334657:H236N	ENSP00000334657:H236N	H	+	1	0	TRIM46	153416068	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.667000	0.37471	2.722000	0.93159	0.655000	0.94253	CAC		0.567	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058	
ASH1L	55870	broad.mit.edu	37	1	155385600	155385600	+	Silent	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:155385600G>T	ENST00000368346.3	-	6	6582	c.5943C>A	c.(5941-5943)ccC>ccA	p.P1981P	ASH1L_ENST00000392403.3_Silent_p.P1981P|snoU13_ENST00000458873.1_RNA			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1981					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.P1981P(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GGGGACGTGGGGGCTTCTTTT	0.453																																					p.P1981P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5943A	1						.						142.0	154.0	150.0					1																	155385600		2203	4300	6503	153652224	SO:0001819	synonymous_variant	55870	exon6			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.5943C>A	1.37:g.155385600G>T			153652224	NM_018489	Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	ENST00000368346.3	37																																																																																					0.453	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489	
GON4L	54856	broad.mit.edu	37	1	155722162	155722162	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:155722162T>G	ENST00000368331.1	-	30	6110	c.6062A>C	c.(6061-6063)aAg>aCg	p.K2021T	GON4L_ENST00000271883.5_Missense_Mutation_p.K2020T|GON4L_ENST00000437809.1_Missense_Mutation_p.K2020T	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	2021					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					ACTCACTGCCTTTTGGCCCTC	0.547																																					p.K2020T												.	.	0			c.A6059C	1						.						7.0	6.0	6.0					1																	155722162		1717	3894	5611	153988786	SO:0001583	missense	54856	exon30			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.6062A>C	1.37:g.155722162T>G	ENSP00000357315:p.Lys2021Thr		153988786	NM_001037533	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37		.	.	.	.	.	.	.	.	.	.	T	16.29	3.080754	0.55753	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883	T;T;T	0.10005	2.92;2.92;2.92	4.91	2.51	0.30379	.	1.004620	0.08009	N	0.990094	T	0.02156	0.0067	N	0.24115	0.695	0.09310	N	1	B;P	0.35272	0.361;0.493	B;B	0.33620	0.081;0.167	T	0.48328	-0.9045	10	0.26408	T	0.33	.	6.733	0.23393	0.0:0.1887:0.0:0.8113	.	2021;2020	Q3T8J9;Q3T8J9-3	GON4L_HUMAN;.	T	2020;2021;2020	ENSP00000396117:K2020T;ENSP00000357315:K2021T;ENSP00000271883:K2020T	ENSP00000271883:K2020T	K	-	2	0	GON4L	153988786	0.001000	0.12720	0.002000	0.10522	0.870000	0.49936	0.146000	0.16180	0.341000	0.23771	0.524000	0.50904	AAG		0.547	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292	
UBQLN4	56893	broad.mit.edu	37	1	156006913	156006913	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:156006913C>T	ENST00000368309.3	-	11	1754	c.1662G>A	c.(1660-1662)acG>acA	p.T554T		NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	554	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|polyubiquitin binding (GO:0031593)	p.T554T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					TCACTTCTGGCGTCTGCACCT	0.547																																					p.T554T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1662A	1						.						73.0	70.0	71.0					1																	156006913		2203	4300	6503	154273537	SO:0001819	synonymous_variant	56893	exon11			BC018403	CCDS1127.1	1q21	2013-02-12	2004-11-05	2004-11-06	ENSG00000160803	ENSG00000160803		"""Ubiquilin family"""	1237	protein-coding gene	gene with protein product	"""ataxin-1 ubiquitin-like interacting protein"""	605440	"""chromosome 1 open reading frame 6"""	C1orf6		10575211, 11001934	Standard	NM_020131		Approved	A1U, UBIN	uc001fna.3	Q9NRR5	OTTHUMG00000017461	ENST00000368309.3:c.1662G>A	1.37:g.156006913C>T			154273537	NM_020131	A6ND44|B2RAY7|Q5VYA0|Q5VYA1|Q9BR98|Q9UHX4	Silent	SNP	ENST00000368309.3	37	CCDS1127.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.355788	0.24598	.	.	ENSG00000160803	ENST00000368307	T	0.54071	0.59	5.38	-9.31	0.00646	.	.	.	.	.	T	0.18215	0.0437	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36578	-0.9742	6	0.87932	D	0	-26.387	1.7901	0.03049	0.2379:0.1397:0.1565:0.4659	.	.	.	.	T	207	ENSP00000357290:A207T	ENSP00000357290:A207T	A	-	1	0	UBQLN4	154273537	0.000000	0.05858	0.002000	0.10522	0.793000	0.44817	-2.046000	0.01409	-1.921000	0.01068	-2.205000	0.00302	GCC		0.547	UBQLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046193.1	NM_020131	
IQGAP3	128239	broad.mit.edu	37	1	156524061	156524061	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:156524061C>A	ENST00000361170.2	-	13	1424	c.1414G>T	c.(1414-1416)Ggc>Tgc	p.G472C		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	472					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)	p.G472C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCAGCCAGGCCTGTGGCAGGG	0.607																																					p.G472C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1414T	1						.						74.0	74.0	74.0					1																	156524061		2203	4300	6503	154790685	SO:0001583	missense	128239	exon13			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.1414G>T	1.37:g.156524061C>A	ENSP00000354451:p.Gly472Cys		154790685	NM_178229	Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.520539	0.64747	.	.	ENSG00000183856	ENST00000361170	T	0.20738	2.05	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.45357	0.1338	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.53151	-0.8479	10	0.72032	D	0.01	-21.8655	17.2659	0.87086	0.0:1.0:0.0:0.0	.	472	Q86VI3	IQGA3_HUMAN	C	472	ENSP00000354451:G472C	ENSP00000354451:G472C	G	-	1	0	IQGAP3	154790685	1.000000	0.71417	0.969000	0.41365	0.175000	0.22909	7.818000	0.86416	2.406000	0.81754	0.655000	0.94253	GGC		0.607	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229	
FCRL3	115352	broad.mit.edu	37	1	157650856	157650856	+	Silent	SNP	C	C	T	rs145571821	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:157650856C>T	ENST00000368184.3	-	12	2163	c.1872G>A	c.(1870-1872)tcG>tcA	p.S624S	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.S624S	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	624						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S624S(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					AAGGCCTGGACGAGGAAGGCT	0.507													C|||	3	0.000599042	0.0015	0.0	5008	,	,		15291	0.0		0.0	False		,,,				2504	0.001				p.S624S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1872A	1						.	C		1,4405	2.1+/-5.4	0,1,2202	85.0	77.0	80.0		1872	0.8	0.0	1	dbSNP_134	80	0,8600		0,0,4300	no	coding-synonymous	FCRL3	NM_052939.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		624/735	157650856	1,13005	2203	4300	6503	155917480	SO:0001819	synonymous_variant	115352	exon12			AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1872G>A	1.37:g.157650856C>T			155917480	NM_052939	A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Silent	SNP	ENST00000368184.3	37	CCDS1167.1																																																																																				0.507	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939	
FCRL2	79368	broad.mit.edu	37	1	157737187	157737187	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:157737187G>A	ENST00000361516.3	-	6	1044	c.996C>T	c.(994-996)taC>taT	p.Y332Y	FCRL2_ENST00000392274.3_Silent_p.Y332Y|FCRL2_ENST00000469986.1_Silent_p.Y79Y|FCRL2_ENST00000368181.4_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	332	Ig-like C2-type 4.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.Y332Y(1)|p.Y79Y(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GATAAAATTGGTACAAGATTG	0.587																																					p.Y332Y												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C996T	1						.						64.0	69.0	68.0					1																	157737187		2203	4300	6503	156003811	SO:0001819	synonymous_variant	79368	exon6			AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14875	protein-coding gene	gene with protein product		606509	"""SH2 domain-containing phosphatase anchor protein 1"""	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.996C>T	1.37:g.157737187G>A			156003811	NM_030764	A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Silent	SNP	ENST00000361516.3	37	CCDS1168.1																																																																																				0.587	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051408.2	NM_030764	
OR10R2	343406	broad.mit.edu	37	1	158450597	158450597	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:158450597T>A	ENST00000368152.1	+	1	930	c.930T>A	c.(928-930)taT>taA	p.Y310*	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y310*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CCATGGTTTATAGCCTCAGAA	0.383																																					p.Y310X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T930A	1						.						103.0	95.0	97.0					1																	158450597		2203	4300	6503	156717221	SO:0001587	stop_gained	343406	exon1			AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"""GPCR / Class A : Olfactory receptors"""	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.930T>A	1.37:g.158450597T>A	ENSP00000357134:p.Tyr310*		156717221	NM_001004472	Q5VWM8|Q6IFS1|Q96R61	Nonsense_Mutation	SNP	ENST00000368152.1	37	CCDS30898.1	.	.	.	.	.	.	.	.	.	.	t	13.24	2.177961	0.38413	.	.	ENSG00000198965	ENST00000368152	.	.	.	4.2	-5.16	0.02857	.	.	.	.	.	.	.	.	.	.	.	0.53688	D	0.999976	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.992	0.64372	0.0:0.7699:0.0:0.2301	.	.	.	.	X	310	.	ENSP00000357134:Y310X	Y	+	3	2	OR10R2	156717221	0.024000	0.19004	0.224000	0.23877	0.603000	0.37013	-0.385000	0.07379	-1.124000	0.02936	-0.290000	0.09829	TAT		0.383	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472	
OR10Z1	128368	broad.mit.edu	37	1	158576570	158576570	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:158576570T>C	ENST00000361284.1	+	1	342	c.342T>C	c.(340-342)ctT>ctC	p.L114L		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	114						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L114L(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					ACTGCTTCCTTCTGGCTGCCA	0.557																																					p.L114L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T342C	1						.						118.0	124.0	122.0					1																	158576570		2203	4299	6502	156843194	SO:0001819	synonymous_variant	128368	exon1			AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.342T>C	1.37:g.158576570T>C			156843194	NM_001004478	Q5VYL0|Q6IFR7	Silent	SNP	ENST00000361284.1	37	CCDS30901.1																																																																																				0.557	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478	
MNDA	4332	broad.mit.edu	37	1	158815445	158815445	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:158815445A>G	ENST00000368141.4	+	5	900	c.639A>G	c.(637-639)acA>acG	p.T213T		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	213	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.T213T(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					ACCCAGTGACAGTGGTGGTAC	0.453																																					p.T213T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A639G	1						.						82.0	78.0	79.0					1																	158815445		2203	4300	6503	157082069	SO:0001819	synonymous_variant	4332	exon5			BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.639A>G	1.37:g.158815445A>G			157082069	NM_002432		Silent	SNP	ENST00000368141.4	37	CCDS1177.1																																																																																				0.453	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432	
PYHIN1	149628	broad.mit.edu	37	1	158913753	158913753	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:158913753G>T	ENST00000368140.1	+	6	1421	c.1176G>T	c.(1174-1176)atG>atT	p.M392I	PYHIN1_ENST00000392252.3_Missense_Mutation_p.M383I|PYHIN1_ENST00000368138.3_Missense_Mutation_p.M383I|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392254.2_Missense_Mutation_p.M392I	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	392	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				cell cycle (GO:0007049)	nucleus (GO:0005634)		p.M392I(1)		breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					TGTCAGAAATGCATAGTTTCA	0.348																																					p.M383I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1149T	1						.						63.0	64.0	63.0					1																	158913753		2203	4300	6503	157180377	SO:0001583	missense	149628	exon6			AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.1176G>T	1.37:g.158913753G>T	ENSP00000357122:p.Met392Ile		157180377	NM_198930	Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	G	4.135	0.023262	0.08006	.	.	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	3.13	-5.29	0.02747	HIN-200/IF120x (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.01940	0.0061	N	0.11560	0.145	0.09310	N	1	B;B;B;B	0.10296	0.003;0.001;0.003;0.002	B;B;B;B	0.09377	0.004;0.0;0.004;0.001	T	0.42103	-0.9471	9	0.30078	T	0.28	.	0.9326	0.01338	0.286:0.1196:0.3621:0.2324	.	383;392;383;392	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9	.;.;.;IFIX_HUMAN	I	392;383;392;383	ENSP00000357122:M392I;ENSP00000357120:M383I;ENSP00000376083:M392I;ENSP00000376082:M383I	ENSP00000357120:M383I	M	+	3	0	PYHIN1	157180377	0.000000	0.05858	0.000000	0.03702	0.108000	0.19459	-0.834000	0.04391	-1.317000	0.02292	-0.140000	0.14226	ATG		0.348	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501	
OR10J5	127385	broad.mit.edu	37	1	159505289	159505289	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:159505289C>T	ENST00000334857.2	-	1	553	c.509G>A	c.(508-510)gGc>gAc	p.G170D		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G170D(1)		kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					TACCACTGTGCCACAGAACGG	0.438																																					p.G170D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G509A	1						.						110.0	90.0	97.0					1																	159505289		2203	4300	6503	157771913	SO:0001583	missense	127385	exon1				CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"""GPCR / Class A : Olfactory receptors"""	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.509G>A	1.37:g.159505289C>T	ENSP00000334441:p.Gly170Asp		157771913	NM_001004469	B9EH35|Q6IFH2	Missense_Mutation	SNP	ENST00000334857.2	37	CCDS30910.1	.	.	.	.	.	.	.	.	.	.	C	1.023	-0.684202	0.03353	.	.	ENSG00000184155	ENST00000334857	T	0.37235	1.21	4.17	0.0222	0.14132	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.11067	0.0270	L	0.51914	1.62	0.20489	N	0.999894	B	0.06786	0.001	B	0.09377	0.004	T	0.30090	-0.9990	9	0.33940	T	0.23	.	4.3591	0.11194	0.1628:0.5464:0.0:0.2908	.	170	Q8NHC4	O10J5_HUMAN	D	170	ENSP00000334441:G170D	ENSP00000334441:G170D	G	-	2	0	OR10J5	157771913	0.024000	0.19004	0.980000	0.43619	0.026000	0.11368	0.173000	0.16724	0.122000	0.18314	-0.373000	0.07131	GGC		0.438	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059021.1	NM_001004469	
IGSF9	57549	broad.mit.edu	37	1	159898578	159898578	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:159898578C>T	ENST00000368094.1	-	19	2797	c.2600G>A	c.(2599-2601)gGc>gAc	p.G867D	IGSF9_ENST00000361509.3_Missense_Mutation_p.G851D|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	867	Pro-rich.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.G851D(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGCTCCCGGCCTGACCTTTC	0.682																																					p.G867D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2600A	1						.						7.0	6.0	6.0					1																	159898578		2075	4099	6174	158165202	SO:0001583	missense	57549	exon19			AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.2600G>A	1.37:g.159898578C>T	ENSP00000357073:p.Gly867Asp		158165202	NM_001135050		Missense_Mutation	SNP	ENST00000368094.1	37	CCDS44254.1	.	.	.	.	.	.	.	.	.	.	C	2.078	-0.411393	0.04799	.	.	ENSG00000085552	ENST00000361509;ENST00000368094	T;T	0.64260	-0.09;-0.01	4.63	1.53	0.23141	.	0.913595	0.09016	N	0.860820	T	0.28499	0.0705	L	0.40543	1.245	0.09310	N	1	B	0.27559	0.181	B	0.21708	0.036	T	0.18524	-1.0334	9	.	.	.	-3.0631	8.3004	0.32010	0.0:0.5925:0.3146:0.0928	.	867	Q9P2J2	TUTLA_HUMAN	D	851;867	ENSP00000355049:G851D;ENSP00000357073:G867D	.	G	-	2	0	IGSF9	158165202	0.000000	0.05858	0.046000	0.18839	0.045000	0.14185	0.068000	0.14531	0.551000	0.29008	-0.165000	0.13383	GGC		0.682	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789	
ATP1A4	480	broad.mit.edu	37	1	160151576	160151576	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:160151576C>T	ENST00000368081.4	+	19	3310	c.2839C>T	c.(2839-2841)Cgc>Tgc	p.R947C	ATP1A4_ENST00000418334.1_3'UTR|ATP1A4_ENST00000470705.1_Missense_Mutation_p.R83C	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	947					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.R947C(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAAGACTCGCCGCAACTCACT	0.532																																					p.R947C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2839T	1						.						145.0	147.0	146.0					1																	160151576		2203	4300	6503	158418200	SO:0001583	missense	480	exon19			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.2839C>T	1.37:g.160151576C>T	ENSP00000357060:p.Arg947Cys		158418200	NM_144699	Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.666693	0.29604	.	.	ENSG00000132681	ENST00000368081;ENST00000470705	D;D	0.89485	-2.52;-2.52	4.16	1.07	0.20283	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.94902	0.8352	H	0.97491	4.015	0.58432	D	0.999998	D	0.89917	1.0	D	0.74674	0.984	D	0.94774	0.7947	10	0.87932	D	0	.	11.4938	0.50396	0.6485:0.3515:0.0:0.0	.	947	Q13733	AT1A4_HUMAN	C	947;83	ENSP00000357060:R947C;ENSP00000433094:R83C	ENSP00000357060:R947C	R	+	1	0	ATP1A4	158418200	0.734000	0.28142	0.671000	0.29857	0.049000	0.14656	1.442000	0.35046	0.126000	0.18424	-0.373000	0.07131	CGC		0.532	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699	
VANGL2	57216	broad.mit.edu	37	1	160388894	160388894	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:160388894G>A	ENST00000368061.2	+	4	769	c.295G>A	c.(295-297)Gtc>Atc	p.V99I		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	99					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)		p.V99I(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGAGGACAGTGTCCCTCTGGA	0.622																																					p.V99I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G295A	1						.						101.0	98.0	99.0					1																	160388894		2203	4300	6503	158655518	SO:0001583	missense	57216	exon4			AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.295G>A	1.37:g.160388894G>A	ENSP00000357040:p.Val99Ile		158655518	NM_020335	D3DVE9|Q5T212	Missense_Mutation	SNP	ENST00000368061.2	37	CCDS30915.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.829314	0.32329	.	.	ENSG00000162738	ENST00000368061	T	0.80304	-1.36	4.55	4.55	0.56014	.	0.410282	0.23070	N	0.052272	T	0.53498	0.1800	L	0.27944	0.81	0.29673	N	0.842303	B	0.16802	0.019	B	0.17433	0.018	T	0.34129	-0.9841	10	0.13470	T	0.59	-37.667	16.2429	0.82424	0.0:0.0:1.0:0.0	.	99	Q9ULK5	VANG2_HUMAN	I	99	ENSP00000357040:V99I	ENSP00000357040:V99I	V	+	1	0	VANGL2	158655518	0.882000	0.30256	0.998000	0.56505	0.991000	0.79684	4.940000	0.63533	2.232000	0.73038	0.563000	0.77884	GTC		0.622	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1	NM_020335	
PVRL4	81607	broad.mit.edu	37	1	161043572	161043572	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:161043572T>C	ENST00000368012.3	-	7	1473	c.1171A>G	c.(1171-1173)Acc>Gcc	p.T391A	PVRL4_ENST00000486694.1_5'UTR|PVRL4_ENST00000453926.2_Missense_Mutation_p.T125A	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	391					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T391A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CTGGTCAGGGTCAGCTCCTCC	0.607																																					p.T391A	NSCLC(76;1160 1387 14476 16172 29359)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1171G	1						.						119.0	101.0	107.0					1																	161043572		2203	4300	6503	159310196	SO:0001583	missense	81607	exon7			AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.1171A>G	1.37:g.161043572T>C	ENSP00000356991:p.Thr391Ala		159310196	NM_030916	B4DQW3|Q96K15	Missense_Mutation	SNP	ENST00000368012.3	37	CCDS1216.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.038983	0.75617	.	.	ENSG00000143217	ENST00000368012;ENST00000453926	T;T	0.37058	1.22;1.22	5.18	5.18	0.71444	.	0.000000	0.49916	D	0.000124	T	0.24084	0.0583	N	0.19112	0.55	0.42444	D	0.992726	D;D;D	0.64830	0.984;0.979;0.994	D;D;D	0.71414	0.935;0.973;0.97	T	0.08534	-1.0717	10	0.08599	T	0.76	.	11.4137	0.49939	0.0:0.0:0.0:1.0	.	125;70;391	B4DQW3;B4DWD4;Q96NY8	.;.;PVRL4_HUMAN	A	391;125	ENSP00000356991:T391A;ENSP00000406015:T125A	ENSP00000356991:T391A	T	-	1	0	PVRL4	159310196	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	4.723000	0.61965	1.929000	0.55896	0.459000	0.35465	ACC		0.607	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916	
EPHA2	1969	broad.mit.edu	37	1	16459788	16459788	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:16459788G>A	ENST00000358432.5	-	11	2094	c.1940C>T	c.(1939-1941)aCg>aTg	p.T647M		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	647	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.T647M(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		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;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	GGCTTTCAGCGTCTTGATGGC	0.612																																					p.T647M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1940T	1						.						97.0	88.0	91.0					1																	16459788		2203	4300	6503	16332375	SO:0001583	missense	1969	exon11			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1940C>T	1.37:g.16459788G>A	ENSP00000351209:p.Thr647Met		16332375	NM_004431	B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	37	CCDS169.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387312	0.82902	.	.	ENSG00000142627	ENST00000358432	T	0.62364	0.03	5.55	5.55	0.83447	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000032	T	0.67287	0.2877	N	0.13198	0.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73257	-0.4040	10	0.87932	D	0	.	18.0794	0.89438	0.0:0.0:1.0:0.0	.	647	P29317	EPHA2_HUMAN	M	647	ENSP00000351209:T647M	ENSP00000351209:T647M	T	-	2	0	EPHA2	16332375	1.000000	0.71417	0.985000	0.45067	0.502000	0.33828	9.869000	0.99810	2.635000	0.89317	0.650000	0.86243	ACG		0.612	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431	
FCGR2A	2212	broad.mit.edu	37	1	161476214	161476214	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:161476214G>A	ENST00000271450.6	+	3	235	c.197G>A	c.(196-198)cGc>cAc	p.R66H	FCGR2A_ENST00000367972.4_Missense_Mutation_p.R65H	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	66	Ig-like C2-type 1.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R65H(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAGGGGGCTCGCAGCCCTGAG	0.587																																					p.R66H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G197A	1						.						102.0	97.0	99.0					1																	161476214		2203	4300	6503	159742838	SO:0001583	missense	2212	exon3			J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3616	protein-coding gene	gene with protein product	"""Immunoglobulin G Fc receptor II"""	146790	"""Fc fragment of IgG, low affinity IIa, receptor for (CD32)"""	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.197G>A	1.37:g.161476214G>A	ENSP00000271450:p.Arg66His		159742838	NM_001136219	Q8WUN1|Q8WW64	Missense_Mutation	SNP	ENST00000271450.6	37	CCDS44264.1	.	.	.	.	.	.	.	.	.	.	G	0.766	-0.767506	0.02974	.	.	ENSG00000143226	ENST00000367972;ENST00000271450	T;T	0.12672	2.66;2.66	3.66	-4.9	0.03094	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.996926	0.08127	N	0.993834	T	0.00524	0.0017	N	0.00278	-1.715	0.21604	N	0.999624	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46133	-0.9213	9	0.02654	T	1	.	5.8272	0.18560	0.2476:0.3246:0.4278:0.0	.	66;65	P12318;P12318-2	FCG2A_HUMAN;.	H	65;66	ENSP00000356949:R65H;ENSP00000271450:R66H	ENSP00000271450:R66H	R	+	2	0	FCGR2A	159742838	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.224000	0.09164	-0.938000	0.03714	-0.415000	0.06103	CGC		0.587	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083318.3	NM_021642	
POGK	57645	broad.mit.edu	37	1	166815893	166815893	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:166815893G>T	ENST00000367875.1	+	3	537	c.177G>T	c.(175-177)gaG>gaT	p.E59D	POGK_ENST00000537173.1_Intron|POGK_ENST00000536514.1_Intron|POGK_ENST00000367876.4_Missense_Mutation_p.E59D			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	59	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E59D(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						TTTCCGATGAGGAATGGGAAG	0.463																																					p.E59D	GBM(76;192 1530 30153 48742)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G177T	1						.						165.0	161.0	162.0					1																	166815893		2203	4300	6503	165082517	SO:0001583	missense	57645	exon3			AB040946	CCDS1254.1	1q23.2	2013-01-08			ENSG00000143157	ENSG00000143157		"""-"""	18800	protein-coding gene	gene with protein product	"""KRAB box domain containing 2"""						Standard	NM_017542		Approved	KIAA15131, LST003, BASS2, KRBOX2	uc001gdt.1	Q9P215	OTTHUMG00000034325	ENST00000367875.1:c.177G>T	1.37:g.166815893G>T	ENSP00000356849:p.Glu59Asp		165082517	NM_017542	Q5TIJ1|Q8TE07	Missense_Mutation	SNP	ENST00000367875.1	37	CCDS1254.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648850	0.67358	.	.	ENSG00000143157	ENST00000449930;ENST00000367876;ENST00000367875	T;T;T	0.03413	3.94;3.94;3.94	5.3	1.31	0.21738	Krueppel-associated box (4);	0.126553	0.35805	N	0.002963	T	0.03520	0.0101	L	0.39692	1.235	0.29725	N	0.838371	D	0.63046	0.992	D	0.74348	0.983	T	0.35895	-0.9770	9	0.72032	D	0.01	-38.3932	4.7766	0.13182	0.2485:0.0:0.5993:0.1522	.	59	Q9P215	POGK_HUMAN	D	59	ENSP00000404402:E59D;ENSP00000356850:E59D;ENSP00000356849:E59D	ENSP00000356849:E59D	E	+	3	2	POGK	165082517	1.000000	0.71417	0.990000	0.47175	0.927000	0.56198	1.252000	0.32874	0.088000	0.17205	-0.218000	0.12543	GAG		0.463	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082888.1	NM_017542	
POGK	57645	broad.mit.edu	37	1	166816785	166816785	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:166816785C>T	ENST00000367875.1	+	4	674	c.314C>T	c.(313-315)tCt>tTt	p.S105F	POGK_ENST00000537173.1_Intron|POGK_ENST00000536514.1_Missense_Mutation_p.S20F|POGK_ENST00000367876.4_Missense_Mutation_p.S105F			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	105	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S105F(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						GAGGAGGAGTCTCAGAATTCT	0.488																																					p.S105F	GBM(76;192 1530 30153 48742)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C314T	1						.						74.0	67.0	69.0					1																	166816785		2203	4300	6503	165083409	SO:0001583	missense	57645	exon4			AB040946	CCDS1254.1	1q23.2	2013-01-08			ENSG00000143157	ENSG00000143157		"""-"""	18800	protein-coding gene	gene with protein product	"""KRAB box domain containing 2"""						Standard	NM_017542		Approved	KIAA15131, LST003, BASS2, KRBOX2	uc001gdt.1	Q9P215	OTTHUMG00000034325	ENST00000367875.1:c.314C>T	1.37:g.166816785C>T	ENSP00000356849:p.Ser105Phe		165083409	NM_017542	Q5TIJ1|Q8TE07	Missense_Mutation	SNP	ENST00000367875.1	37	CCDS1254.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.870442	0.33069	.	.	ENSG00000143157	ENST00000536514;ENST00000449930;ENST00000367876;ENST00000367875	T;T;T;T	0.32515	1.45;4.79;4.67;4.67	5.01	4.08	0.47627	Krueppel-associated box (2);	0.311922	0.23474	N	0.047786	T	0.12646	0.0307	L	0.35288	1.05	0.28071	N	0.9325829999999999	B;B	0.28512	0.214;0.214	B;B	0.28784	0.039;0.094	T	0.06972	-1.0797	9	0.62326	D	0.03	-12.38	12.8411	0.57802	0.0:0.8278:0.1722:0.0	.	20;105	B4DS22;Q9P215	.;POGK_HUMAN	F	20;105;105;105	ENSP00000441187:S20F;ENSP00000404402:S105F;ENSP00000356850:S105F;ENSP00000356849:S105F	ENSP00000356849:S105F	S	+	2	0	POGK	165083409	0.014000	0.17966	0.995000	0.50966	0.997000	0.91878	-0.080000	0.11339	1.288000	0.44600	0.655000	0.94253	TCT		0.488	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082888.1	NM_017542	
FMO4	2329	broad.mit.edu	37	1	171303754	171303754	+	Silent	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:171303754C>A	ENST00000367749.3	+	8	1362	c.1032C>A	c.(1030-1032)ctC>ctA	p.L344L		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	344					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.L344L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TTAAAAGCCTCTGTACAAAGA	0.378																																					p.L344L	Pancreas(24;816 862 7754 7993 32832)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1032A	1						.						84.0	89.0	88.0					1																	171303754		2203	4300	6503	169570378	SO:0001819	synonymous_variant	2329	exon8			BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.1032C>A	1.37:g.171303754C>A			169570378	NM_002022	Q53XR0	Silent	SNP	ENST00000367749.3	37	CCDS1295.1																																																																																				0.378	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086223.1	NM_002022	
RC3H1	149041	broad.mit.edu	37	1	173939682	173939682	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:173939682G>A	ENST00000367696.2	-	9	1646	c.1295C>T	c.(1294-1296)gCc>gTc	p.A432V	RC3H1_ENST00000367694.2_Missense_Mutation_p.A432V|RNA5SP68_ENST00000363885.1_RNA|RC3H1_ENST00000258349.4_Missense_Mutation_p.A432V			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	432					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A432V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TGTACAGCTGGCCCCACGAGG	0.428																																					p.A432V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1295T	1						.						211.0	203.0	205.0					1																	173939682		2203	4300	6503	172206305	SO:0001583	missense	149041	exon8			AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.1295C>T	1.37:g.173939682G>A	ENSP00000356669:p.Ala432Val		172206305	NM_172071	B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.880387	0.91740	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	T;T;T	0.48522	0.81;0.81;0.81	5.68	5.68	0.88126	Zinc finger, CCCH-type (2);	0.000000	0.85682	D	0.000000	T	0.65270	0.2675	L	0.48986	1.54	0.80722	D	1	D;D;D;P	0.76494	0.999;0.999;0.999;0.767	D;D;D;P	0.74674	0.984;0.984;0.973;0.504	T	0.63120	-0.6708	10	0.49607	T	0.09	-11.1306	19.7936	0.96469	0.0:0.0:1.0:0.0	.	432;432;432;432	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	V	432	ENSP00000356669:A432V;ENSP00000258349:A432V;ENSP00000356667:A432V	ENSP00000258349:A432V	A	-	2	0	RC3H1	172206305	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	9.823000	0.99369	2.677000	0.91161	0.563000	0.77884	GCC		0.428	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071	
RABGAP1L	9910	broad.mit.edu	37	1	174244985	174244985	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:174244985G>T	ENST00000251507.4	+	9	1242	c.1068G>T	c.(1066-1068)aaG>aaT	p.K356N	RABGAP1L_ENST00000357444.6_Missense_Mutation_p.K319N|RABGAP1L_ENST00000367689.3_Missense_Mutation_p.K3N	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0								p.K356N(1)		NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						CCATGGGAAAGAGCTATGATG	0.353																																					p.K356N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1068T	1						.						94.0	96.0	95.0					1																	174244985		2203	4300	6503	172511608	SO:0001583	missense	9910	exon9			AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.1068G>T	1.37:g.174244985G>T	ENSP00000251507:p.Lys356Asn		172511608	NM_014857	B7ZAA4	Missense_Mutation	SNP	ENST00000251507.4	37	CCDS1314.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.128752	0.56721	.	.	ENSG00000152061	ENST00000357444;ENST00000367689;ENST00000251507;ENST00000457696;ENST00000367692	T;T;T	0.48201	0.82;3.43;0.84	5.37	4.45	0.53987	.	0.102022	0.64402	D	0.000004	T	0.58466	0.2124	L	0.50919	1.6	0.80722	D	1	D;D;D;D;D	0.89917	0.974;1.0;0.997;0.997;0.959	P;D;D;D;P	0.87578	0.828;0.998;0.982;0.982;0.647	T	0.56535	-0.7963	10	0.40728	T	0.16	.	8.6009	0.33745	0.2853:0.0:0.7146:0.0	.	368;3;356;356;319	B7WPG6;Q5JZA9;F1LJ00;Q5R372;Q5R372-2	.;.;.;RBG1L_HUMAN;.	N	319;3;356;368;368	ENSP00000350027:K319N;ENSP00000251507:K356N;ENSP00000403136:K368N	ENSP00000251507:K356N	K	+	3	2	RABGAP1L	172511608	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.608000	0.46308	1.268000	0.44264	0.551000	0.68910	AAG		0.353	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	NM_001243765	
TNR	7143	broad.mit.edu	37	1	175372433	175372433	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:175372433C>A	ENST00000367674.2	-	4	1527	c.819G>T	c.(817-819)aaG>aaT	p.K273N	TNR_ENST00000263525.2_Missense_Mutation_p.K273N			Q92752	TENR_HUMAN	tenascin R	273	Cys-rich.				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.K273N(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)					CACATCTCCCCTTCCCCGAAC	0.632																																					p.K273N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G819T	1						.						134.0	87.0	103.0					1																	175372433		2203	4300	6503	173639056	SO:0001583	missense	7143	exon4			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.819G>T	1.37:g.175372433C>A	ENSP00000356646:p.Lys273Asn		173639056	NM_003285	C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.513201	0.44660	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.11495	2.77;2.77	6.04	1.99	0.26369	.	0.222766	0.46758	D	0.000263	T	0.02533	0.0077	N	0.00566	-1.37	0.37406	D	0.913057	P;B	0.43094	0.799;0.145	B;B	0.38562	0.276;0.063	T	0.50617	-0.8807	10	0.44086	T	0.13	.	6.4841	0.22079	0.0:0.6181:0.1274:0.2545	.	273;273	B4DIX8;Q92752	.;TENR_HUMAN	N	273	ENSP00000356646:K273N;ENSP00000263525:K273N	ENSP00000263525:K273N	K	-	3	2	TNR	173639056	1.000000	0.71417	0.995000	0.50966	0.764000	0.43329	0.853000	0.27777	0.839000	0.34971	0.561000	0.74099	AAG		0.632	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285	
PADI6	353238	broad.mit.edu	37	1	17720907	17720907	+	RNA	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:17720907T>C	ENST00000434762.2	+	0	1345							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.Y431H(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGGGAAAGAGTACCCGCTGGG	0.552																																					p.V432A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1295C	1						.						32.0	34.0	33.0					1																	17720907		1955	4137	6092	17593494			353238	exon11			AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17720907T>C			17593494	NM_207421	Q330K5|Q70SX3	Missense_Mutation	SNP	ENST00000434762.2	37																																																																																					0.552	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421	
PAPPA2	60676	broad.mit.edu	37	1	176668559	176668559	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:176668559A>C	ENST00000367662.3	+	8	4234	c.3070A>C	c.(3070-3072)Acc>Ccc	p.T1024P		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1024					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T1024P(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAAAGTCTACACCTTTGATGA	0.552																																					p.T1024P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3070C	1						.						133.0	139.0	137.0					1																	176668559		2102	4238	6340	174935182	SO:0001583	missense	60676	exon8			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.3070A>C	1.37:g.176668559A>C	ENSP00000356634:p.Thr1024Pro		174935182	NM_020318	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.493855	0.84962	.	.	ENSG00000116183	ENST00000367662	T	0.54071	0.59	5.38	5.38	0.77491	Fibronectin, type III (2);	0.000000	0.85682	D	0.000000	T	0.64338	0.2589	M	0.72118	2.19	0.80722	D	1	D	0.54964	0.969	P	0.52627	0.704	T	0.69745	-0.5062	10	0.87932	D	0	-22.2129	15.2247	0.73342	1.0:0.0:0.0:0.0	.	1024	Q9BXP8	PAPP2_HUMAN	P	1024	ENSP00000356634:T1024P	ENSP00000356634:T1024P	T	+	1	0	PAPPA2	174935182	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	8.448000	0.90335	2.254000	0.74563	0.533000	0.62120	ACC		0.552	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1		
KIAA1614	57710	broad.mit.edu	37	1	180905465	180905465	+	Missense_Mutation	SNP	C	C	T	rs374751734		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:180905465C>T	ENST00000367588.4	+	5	2475	c.2420C>T	c.(2419-2421)gCg>gTg	p.A807V	KIAA1614_ENST00000367587.1_Missense_Mutation_p.A428V	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	807								p.A807V(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GAAGGCTGGGCGCCAACCCCT	0.612																																					p.A807V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2420T	1						.						58.0	62.0	61.0					1																	180905465		1989	4155	6144	179172088	SO:0001583	missense	57710	exon5			AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.2420C>T	1.37:g.180905465C>T	ENSP00000356560:p.Ala807Val		179172088	NM_020950	Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	37	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.650682	0.00785	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.15603	3.03;2.41	4.3	0.351	0.16042	.	0.640820	0.14280	N	0.329572	T	0.04092	0.0114	N	0.01168	-0.975	0.23386	N	0.99779	B	0.02656	0.0	B	0.01281	0.0	T	0.34378	-0.9831	9	0.22706	T	0.39	-6.504	1.7108	0.02891	0.1668:0.0974:0.1733:0.5625	.	807	Q5VZ46	K1614_HUMAN	V	807;428	ENSP00000356560:A807V;ENSP00000356559:A428V	ENSP00000356559:A428V	A	+	2	0	KIAA1614	179172088	0.000000	0.05858	0.864000	0.33941	0.047000	0.14425	-0.154000	0.10130	0.104000	0.17725	-1.182000	0.01712	GCG		0.612	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531	
ACTL8	81569	broad.mit.edu	37	1	18149709	18149709	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:18149709G>A	ENST00000375406.1	+	2	422	c.206G>A	c.(205-207)cGg>cAg	p.R69Q		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	69					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R69Q(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CCCATCGAGCGGGGCCGCATC	0.597																																					p.R69Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G206A	1						.						113.0	107.0	109.0					1																	18149709		2203	4300	6503	18022296	SO:0001583	missense	81569	exon2			AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"""cancer/testis antigen 57"""						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.206G>A	1.37:g.18149709G>A	ENSP00000364555:p.Arg69Gln		18022296	NM_030812	Q13104|Q96M75	Missense_Mutation	SNP	ENST00000375406.1	37	CCDS183.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.237181	0.58886	.	.	ENSG00000117148	ENST00000375406	D	0.97352	-4.35	4.98	3.05	0.35203	.	0.000000	0.39909	N	0.001223	D	0.97259	0.9104	M	0.64676	1.99	0.28777	N	0.900051	D	0.89917	1.0	D	0.72625	0.978	D	0.92845	0.6292	10	0.87932	D	0	-27.9891	7.1259	0.25471	0.2782:0.0:0.7218:0.0	.	69	Q9H568	ACTL8_HUMAN	Q	69	ENSP00000364555:R69Q	ENSP00000364555:R69Q	R	+	2	0	ACTL8	18022296	0.999000	0.42202	0.735000	0.30896	0.158000	0.22134	3.654000	0.54453	1.312000	0.45043	0.655000	0.94253	CGG		0.597	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007143.1	NM_030812	
KIAA1614	57710	broad.mit.edu	37	1	180914592	180914592	+	Silent	SNP	C	C	T	rs370939989		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:180914592C>T	ENST00000367588.4	+	9	3496	c.3441C>T	c.(3439-3441)tgC>tgT	p.C1147C	RP11-46A10.5_ENST00000358073.2_RNA|KIAA1614_ENST00000367587.1_Silent_p.C768C|KIAA1614_ENST00000461346.1_3'UTR	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	1147								p.C1147C(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						TCGGCTTCTGCGTGGCCTCTG	0.682																																					p.C1147C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3441T	1						.	C		0,3816		0,0,1908	29.0	32.0	31.0		3441	-6.0	0.5	1		31	2,8244		0,2,4121	no	coding-synonymous	KIAA1614	NM_020950.1		0,2,6029	TT,TC,CC		0.0243,0.0,0.0166		1147/1191	180914592	2,12060	1908	4123	6031	179181215	SO:0001819	synonymous_variant	57710	exon9			AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.3441C>T	1.37:g.180914592C>T			179181215	NM_020950	Q5VZ45|Q9HCF8	Silent	SNP	ENST00000367588.4	37	CCDS41442.1																																																																																				0.682	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531	
TAS1R2	80834	broad.mit.edu	37	1	19166912	19166912	+	Silent	SNP	G	G	A	rs369009388		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:19166912G>A	ENST00000375371.3	-	6	1722	c.1701C>T	c.(1699-1701)atC>atT	p.I567I		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	567					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.I567I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GGGCCACAGCGATGGTGGGTG	0.617																																					p.I567I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1701T	1						.	G		1,4405	2.1+/-5.4	0,1,2202	50.0	52.0	51.0		1701	3.6	0.6	1		51	0,8600		0,0,4300	no	coding-synonymous	TAS1R2	NM_152232.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		567/840	19166912	1,13005	2203	4300	6503	19039499	SO:0001819	synonymous_variant	80834	exon6				CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1701C>T	1.37:g.19166912G>A			19039499	NM_152232	Q5TZ19	Silent	SNP	ENST00000375371.3	37	CCDS187.1																																																																																				0.617	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1		
LAMC1	3915	broad.mit.edu	37	1	183099599	183099599	+	Missense_Mutation	SNP	C	C	T	rs148780198		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:183099599C>T	ENST00000258341.4	+	19	3658	c.3401C>T	c.(3400-3402)gCg>gTg	p.A1134V		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1134	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.A1134V(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						GCTGAACAAGCGCGTGCCCAT	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		19799	0.001		0.0	False		,,,				2504	0.0				p.A1134V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3401T	1						.						98.0	91.0	94.0					1																	183099599		2203	4300	6503	181366222	SO:0001583	missense	3915	exon19			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.3401C>T	1.37:g.183099599C>T	ENSP00000258341:p.Ala1134Val		181366222	NM_002293	Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	CCDS1351.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	31	5.065103	0.93898	.	.	ENSG00000135862	ENST00000258341	T	0.23552	1.9	4.76	4.76	0.60689	.	0.052227	0.85682	D	0.000000	T	0.49966	0.1588	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.53208	-0.8471	10	0.72032	D	0.01	.	17.7087	0.88316	0.0:1.0:0.0:0.0	.	1134	P11047	LAMC1_HUMAN	V	1134	ENSP00000258341:A1134V	ENSP00000258341:A1134V	A	+	2	0	LAMC1	181366222	1.000000	0.71417	0.977000	0.42913	0.963000	0.63663	6.481000	0.73608	2.339000	0.79563	0.561000	0.74099	GCG		0.458	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293	
EMC1	23065	broad.mit.edu	37	1	19566320	19566320	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:19566320A>G	ENST00000477853.1	-	8	988	c.946T>C	c.(946-948)Ttc>Ctc	p.F316L	EMC1_ENST00000375208.3_Missense_Mutation_p.F294L|EMC1_ENST00000375199.3_Missense_Mutation_p.F316L|RP1-43E13.2_ENST00000437898.1_RNA	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	316						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)		p.F316L(2)									ACCTGTGGGAAGTTTTTAAGC	0.502																																					p.F316L												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.T946C	1						.						83.0	86.0	85.0					1																	19566320		2203	4300	6503	19438907	SO:0001583	missense	23065	exon8				CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"""KIAA0090"""	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.946T>C	1.37:g.19566320A>G	ENSP00000420608:p.Phe316Leu		19438907	NM_015047	A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Missense_Mutation	SNP	ENST00000477853.1	37	CCDS190.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.26|15.26	2.779530|2.779530	0.49891|0.49891	.|.	.|.	ENSG00000127463|ENSG00000127463	ENST00000477853;ENST00000375199;ENST00000375208|ENST00000375197	T;T;T|.	0.20463|.	2.07;2.07;2.11|.	5.81|5.81	3.52|3.52	0.40303|0.40303	.|.	0.084250|.	0.85682|.	N|.	0.000000|.	T|T	0.55878|0.55878	0.1948|0.1948	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	B;B;D;D|.	0.63880|.	0.183;0.234;0.993;0.988|.	B;B;P;P|.	0.55391|.	0.12;0.042;0.775;0.6|.	T|T	0.47394|0.47394	-0.9121|-0.9121	10|5	0.11182|.	T|.	0.66|.	-20.3714|-20.3714	9.1852|9.1852	0.37165|0.37165	0.8521:0.0:0.1479:0.0|0.8521:0.0:0.1479:0.0	.|.	294;316;316;316|.	Q8N766-4;Q8N766-2;Q8N766-3;Q8N766|.	.;.;.;K0090_HUMAN|.	L|P	316;316;294|50	ENSP00000420608:F316L;ENSP00000364345:F316L;ENSP00000364354:F294L|.	ENSP00000364345:F316L|.	F|L	-|-	1|2	0|0	KIAA0090|KIAA0090	19438907|19438907	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.815000|0.815000	0.46073|0.46073	4.295000|4.295000	0.59049|0.59049	0.478000|0.478000	0.27488|0.27488	0.533000|0.533000	0.62120|0.62120	TTC|CTT		0.502	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047	
TROVE2	6738	broad.mit.edu	37	1	193038219	193038219	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:193038219A>G	ENST00000367446.3	+	2	245	c.35A>G	c.(34-36)aAt>aGt	p.N12S	TROVE2_ENST00000416058.2_5'UTR|TROVE2_ENST00000432079.1_Intron|TROVE2_ENST00000367441.1_Missense_Mutation_p.N12S|TROVE2_ENST00000367445.3_Missense_Mutation_p.N12S|TROVE2_ENST00000367443.1_Missense_Mutation_p.N12S|TROVE2_ENST00000460715.2_Intron|TROVE2_ENST00000400968.2_Missense_Mutation_p.N12S|TROVE2_ENST00000367444.3_Missense_Mutation_p.N12S	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	12					cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)	p.N12S(1)		biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						CAGCCACTGAATGAGAAGCAG	0.393																																					p.N12S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A35G	1						.						91.0	87.0	88.0					1																	193038219		1902	4127	6029	191304842	SO:0001583	missense	6738	exon2			BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"""Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"""	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.35A>G	1.37:g.193038219A>G	ENSP00000356416:p.Asn12Ser		191304842	NM_001173524	B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Missense_Mutation	SNP	ENST00000367446.3	37	CCDS1379.1	.	.	.	.	.	.	.	.	.	.	A	5.973	0.363438	0.11296	.	.	ENSG00000116747	ENST00000400968;ENST00000415442;ENST00000506303;ENST00000367446;ENST00000367443;ENST00000367445;ENST00000367444;ENST00000367441	T;T;T;T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65	5.45	4.33	0.51752	.	0.421048	0.27151	N	0.020695	T	0.04452	0.0122	N	0.02802	-0.49	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.26643	-1.0097	10	0.05436	T	0.98	-20.5845	8.0002	0.30293	0.767:0.0:0.233:0.0	.	12;12;12;12	Q5LJ99;Q5LJ98;Q5LJA0;P10155	.;.;.;RO60_HUMAN	S	12	ENSP00000383752:N12S;ENSP00000401176:N12S;ENSP00000425296:N12S;ENSP00000356416:N12S;ENSP00000356413:N12S;ENSP00000356415:N12S;ENSP00000356414:N12S;ENSP00000356411:N12S	ENSP00000356411:N12S	N	+	2	0	TROVE2	191304842	1.000000	0.71417	0.997000	0.53966	0.767000	0.43475	2.663000	0.46774	0.924000	0.37069	0.455000	0.32223	AAT		0.393	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086688.1	NM_004600	
KCNT2	343450	broad.mit.edu	37	1	196577355	196577355	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:196577355T>C	ENST00000294725.9	-	1	1000	c.85A>G	c.(85-87)Aac>Gac	p.N29D	KCNT2_ENST00000609185.1_Missense_Mutation_p.N29D|KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.N29D|KCNT2_ENST00000367433.5_Missense_Mutation_p.N29D			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	29					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.N29D(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CTGTCGTCGTTTTGCCATCCT	0.517																																					p.N29D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A85G	1						.						203.0	174.0	184.0					1																	196577355		2203	4300	6503	194843978	SO:0001583	missense	343450	exon1			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.85A>G	1.37:g.196577355T>C	ENSP00000294725:p.Asn29Asp		194843978	NM_198503	Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	T	13.43	2.235740	0.39498	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.17054	2.3;2.3;2.56	5.5	4.35	0.52113	.	0.109420	0.41001	D	0.000976	T	0.10208	0.0250	N	0.22421	0.69	0.80722	D	1	B;B;B;B	0.06786	0.0;0.001;0.001;0.0	B;B;B;B	0.09377	0.001;0.003;0.004;0.001	T	0.13656	-1.0501	10	0.11794	T	0.64	-12.177	9.588	0.39528	0.0:0.0:0.1756:0.8244	.	29;29;29;29	A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	D	29	ENSP00000356403:N29D;ENSP00000356401:N29D;ENSP00000294725:N29D	ENSP00000294725:N29D	N	-	1	0	KCNT2	194843978	0.998000	0.40836	0.863000	0.33907	0.992000	0.81027	2.559000	0.45888	1.056000	0.40484	0.528000	0.53228	AAC		0.517	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503	
CAMSAP2	23271	broad.mit.edu	37	1	200822449	200822449	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:200822449C>T	ENST00000236925.4	+	14	3731	c.3682C>T	c.(3682-3684)Cgc>Tgc	p.R1228C	CAMSAP2_ENST00000358823.2_Missense_Mutation_p.R1217C|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.R1201C			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1228					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)	p.R1217C(1)									TGAGAGAGCACGCAGAGAATT	0.373																																					p.R1217C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3649T	1						.						98.0	103.0	101.0					1																	200822449		2203	4300	6503	199089072	SO:0001583	missense	23271	exon13			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.3682C>T	1.37:g.200822449C>T	ENSP00000236925:p.Arg1228Cys		199089072	NM_203459	B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	ENST00000236925.4	37		.	.	.	.	.	.	.	.	.	.	C	23.6	4.435386	0.83885	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.33438	1.53;1.41;1.63	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.59676	0.2211	M	0.78456	2.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.64041	-0.6500	10	0.87932	D	0	-13.3261	19.1288	0.93396	0.0:1.0:0.0:0.0	.	1201;1228;1217	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	C	1217;1201;1228	ENSP00000351684:R1217C;ENSP00000416800:R1201C;ENSP00000236925:R1228C	ENSP00000236925:R1228C	R	+	1	0	CAMSAP1L1	199089072	1.000000	0.71417	0.991000	0.47740	0.996000	0.88848	4.528000	0.60580	2.588000	0.87417	0.655000	0.94253	CGC		0.373	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459	
CACNA1S	779	broad.mit.edu	37	1	201022696	201022696	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:201022696C>T	ENST00000362061.3	-	30	3912	c.3686G>A	c.(3685-3687)cGc>cAc	p.R1229H	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R1210H	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1229					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.R1229H(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GCTGGAGATGCGGGCACTCTC	0.642																																					p.R1229H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3686A	1						.						47.0	48.0	48.0					1																	201022696		2203	4300	6503	199289319	SO:0001583	missense	779	exon30			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.3686G>A	1.37:g.201022696C>T	ENSP00000355192:p.Arg1229His		199289319	NM_000069	A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	.	24.7	4.555847	0.86231	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98455	-4.94;-4.35	4.05	4.05	0.47172	Ion transport (1);	0.301529	0.33023	N	0.005376	D	0.98865	0.9616	M	0.85859	2.78	0.43965	D	0.996648	D	0.71674	0.998	D	0.67900	0.954	D	0.99457	1.0942	10	0.66056	D	0.02	.	16.8345	0.85953	0.0:1.0:0.0:0.0	.	1229	Q13698	CAC1S_HUMAN	H	1229;1210	ENSP00000355192:R1229H;ENSP00000356307:R1210H	ENSP00000355192:R1229H	R	-	2	0	CACNA1S	199289319	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.919000	0.63383	2.265000	0.75225	0.586000	0.80456	CGC		0.642	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069	
CSRP1	1465	broad.mit.edu	37	1	201454411	201454411	+	Splice_Site	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:201454411C>A	ENST00000367306.1	-	6	868	c.505G>T	c.(505-507)Gga>Tga	p.G169*	CSRP1_ENST00000533432.1_Splice_Site_p.G169*|CSRP1_ENST00000532460.1_Splice_Site_p.G169*|CSRP1_ENST00000340006.2_Splice_Site_p.G169*|CSRP1_ENST00000526723.1_Splice_Site_p.G136*|CSRP1_ENST00000531916.1_Intron|CSRP1_ENST00000458271.2_5'Flank			P21291	CSRP1_HUMAN	cysteine and glycine-rich protein 1	169	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				platelet aggregation (GO:0070527)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.G169*(1)		large_intestine(3)|lung(2)|ovary(1)	6						AAACACCCACCTTTGCAGTAA	0.517																																					p.G169X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G505T	1						.						146.0	132.0	136.0					1																	201454411		2203	4300	6503	199721034	SO:0001630	splice_region_variant	1465	exon5			M33146	CCDS1413.1	1q32	2008-02-05			ENSG00000159176	ENSG00000159176			2469	protein-coding gene	gene with protein product		123876		CYRP		2115670, 9925910	Standard	NM_004078		Approved	CSRP, D1S181E	uc021phh.1	P21291	OTTHUMG00000035773	ENST00000367306.1:c.505+1G>T	1.37:g.201454411C>A			199721034	NM_001193572	A8K268|Q5U0J2	Nonsense_Mutation	SNP	ENST00000367306.1	37	CCDS1413.1	.	.	.	.	.	.	.	.	.	.	C	37	6.015379	0.97205	.	.	ENSG00000159176	ENST00000367306;ENST00000545649;ENST00000340006;ENST00000532460;ENST00000533432;ENST00000526723;ENST00000524951	.	.	.	5.68	5.68	0.88126	.	0.055353	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.7625	19.7739	0.96383	0.0:1.0:0.0:0.0	.	.	.	.	X	169;146;169;169;169;136;132	.	.	G	-	1	0	CSRP1	199721034	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	7.774000	0.85478	2.667000	0.90743	0.563000	0.77884	GGA		0.517	CSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087027.1	NM_004078	Nonsense_Mutation
NAV1	89796	broad.mit.edu	37	1	201781081	201781081	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:201781081A>G	ENST00000367296.4	+	26	5423	c.5003A>G	c.(5002-5004)cAt>cGt	p.H1668R	NAV1_ENST00000295624.6_Missense_Mutation_p.H1665R|NAV1_ENST00000367295.1_Missense_Mutation_p.H1274R|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Missense_Mutation_p.H1608R|NAV1_ENST00000367297.4_Missense_Mutation_p.H1660R|NAV1_ENST00000367302.1_Missense_Mutation_p.H1621R	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1668					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.H1665R(1)		breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						ACACCCAACCATGGCTTGCAC	0.478																																					p.H1274R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3821G	1						.						154.0	157.0	156.0					1																	201781081		2203	4300	6503	200047704	SO:0001583	missense	89796	exon23			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.5003A>G	1.37:g.201781081A>G	ENSP00000356265:p.His1668Arg		200047704	NM_001167738	A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	A	22.8	4.335861	0.81801	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000367295;ENST00000367301	T;T;T;T;T;T	0.06933	3.28;3.24;3.24;3.24;3.28;3.25	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.26011	0.0634	L	0.57536	1.79	0.50171	D	0.999857	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.00400	-1.1763	10	0.59425	D	0.04	-18.1486	15.4286	0.75075	1.0:0.0:0.0:0.0	.	1274;1665	Q8NEY1-5;Q8NEY1-3	.;.	R	1621;1668;1665;1660;1608;1274;76	ENSP00000356271:H1621R;ENSP00000356265:H1668R;ENSP00000295624:H1665R;ENSP00000356266:H1660R;ENSP00000356269:H1608R;ENSP00000356264:H1274R	ENSP00000295624:H1665R	H	+	2	0	NAV1	200047704	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.767000	0.68850	2.183000	0.69458	0.528000	0.53228	CAT		0.478	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443	
PLA2G2E	30814	broad.mit.edu	37	1	20246899	20246899	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:20246899C>T	ENST00000375116.3	-	4	387	c.330G>A	c.(328-330)aaG>aaA	p.K110K		NM_014589.1	NP_055404.1	Q9NZK7	PA2GE_HUMAN	phospholipase A2, group IIE	110					glycerophospholipid biosynthetic process (GO:0046474)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.K110K(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aminosalicylic Acid(DB00233)	GGGCAGCCCTCTTGTCACACT	0.617																																					p.K110K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G330A	1						.						78.0	68.0	71.0					1																	20246899		2203	4300	6503	20119486	SO:0001819	synonymous_variant	30814	exon4			AF189279	CCDS200.1	1p36.13	2008-09-19			ENSG00000188784	ENSG00000188784	3.1.1.4		13414	protein-coding gene	gene with protein product						10681567, 11922621	Standard	NM_014589		Approved		uc001bct.1	Q9NZK7	OTTHUMG00000002702	ENST00000375116.3:c.330G>A	1.37:g.20246899C>T			20119486	NM_014589	Q5VXJ8	Silent	SNP	ENST00000375116.3	37	CCDS200.1																																																																																				0.617	PLA2G2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007684.1	NM_014589	
KDM5B	10765	broad.mit.edu	37	1	202742407	202742407	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:202742407C>T	ENST00000367265.3	-	4	1579	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	KDM5B_ENST00000367264.2_Missense_Mutation_p.E139K	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	139	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.E139K(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CCACCTTCTTCTGCAACTAAC	0.393																																					p.E139K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G415A	1						.						111.0	101.0	104.0					1																	202742407		2203	4300	6503	201009030	SO:0001583	missense	10765	exon4			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.415G>A	1.37:g.202742407C>T	ENSP00000356234:p.Glu139Lys		201009030	NM_006618	O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	36	5.708213	0.96821	.	.	ENSG00000117139	ENST00000367265;ENST00000367264	T;T	0.62498	0.02;0.02	5.79	5.79	0.91817	ARID/BRIGHT DNA-binding domain (5);	0.047102	0.85682	D	0.000000	T	0.66228	0.2768	N	0.20401	0.57	0.80722	D	1	P;B	0.52463	0.953;0.274	P;P	0.58013	0.831;0.463	T	0.69727	-0.5067	10	0.72032	D	0.01	-24.5662	20.0361	0.97558	0.0:1.0:0.0:0.0	.	139;139	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	K	139	ENSP00000356234:E139K;ENSP00000356233:E139K	ENSP00000356233:E139K	E	-	1	0	KDM5B	201009030	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.740000	0.93945	0.563000	0.77884	GAA		0.393	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618	
FMOD	2331	broad.mit.edu	37	1	203317219	203317219	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:203317219C>T	ENST00000354955.4	-	2	643	c.180G>A	c.(178-180)ggG>ggA	p.G60G	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	60					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)		p.G60G(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			TGTAGGCTGGCCCTTCATCCA	0.612																																					p.G60G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G180A	1						.						56.0	53.0	54.0					1																	203317219		2203	4300	6503	201583842	SO:0001819	synonymous_variant	2331	exon2			U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3774	protein-coding gene	gene with protein product	"""fibromodulin proteoglycan"""	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.180G>A	1.37:g.203317219C>T			201583842	NM_002023	Q15331|Q8IV47	Silent	SNP	ENST00000354955.4	37	CCDS30976.1	.	.	.	.	.	.	.	.	.	.	C	0.030	-1.343252	0.01277	.	.	ENSG00000122176	ENST00000539467	.	.	.	5.53	-9.32	0.00643	.	0.099558	0.42172	D	0.000757	T	0.32346	0.0826	.	.	.	0.24859	N	0.992356	.	.	.	.	.	.	T	0.36383	-0.9750	6	0.51188	T	0.08	-16.414	8.5641	0.33530	0.1138:0.2046:0.5854:0.0961	.	.	.	.	D	41	.	ENSP00000438680:G41D	G	-	2	0	FMOD	201583842	0.009000	0.17119	0.188000	0.23233	0.058000	0.15608	-2.318000	0.01121	-1.981000	0.00989	-1.098000	0.02139	GGC		0.612	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1	NM_002023	
ATP2B4	493	broad.mit.edu	37	1	203677151	203677151	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:203677151C>T	ENST00000357681.5	+	10	2599	c.1476C>T	c.(1474-1476)agC>agT	p.S492S	ATP2B4_ENST00000367219.3_Silent_p.S480S|ATP2B4_ENST00000341360.2_Silent_p.S492S|ATP2B4_ENST00000391954.2_Silent_p.S492S|ATP2B4_ENST00000367218.3_Silent_p.S492S	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	492				S -> C (in Ref. 3; CAD97686). {ECO:0000305}.	blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)	p.S492S(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AAATCCCAAGCCCTGATGTCT	0.483																																					p.S492S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1476T	1						.						208.0	184.0	192.0					1																	203677151		2203	4300	6503	201943774	SO:0001819	synonymous_variant	493	exon10			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.1476C>T	1.37:g.203677151C>T			201943774	NM_001001396	B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Silent	SNP	ENST00000357681.5	37	CCDS1440.1																																																																																				0.483	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396	
CNTN2	6900	broad.mit.edu	37	1	205041113	205041113	+	Silent	SNP	G	G	A	rs115143667	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:205041113G>A	ENST00000331830.4	+	20	2867	c.2583G>A	c.(2581-2583)gcG>gcA	p.A861A		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	861	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)	p.A861A(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AAGCAGCTGCGGACCGAGTGA	0.632													g|||	28	0.00559105	0.0212	0.0	5008	,	,		18910	0.0		0.0	False		,,,				2504	0.0				p.A861A	Melanoma(183;2548 2817 37099 41192)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2583A	1						.			48,4358	48.9+/-83.8	0,48,2155	75.0	71.0	72.0		2583	-2.7	1.0	1	dbSNP_132	72	0,8600		0,0,4300	no	coding-synonymous	CNTN2	NM_005076.3		0,48,6455	AA,AG,GG		0.0,1.0894,0.3691		861/1041	205041113	48,12958	2203	4300	6503	203307736	SO:0001819	synonymous_variant	6900	exon20			X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.2583G>A	1.37:g.205041113G>A			203307736	NM_005076	P78432|Q5T054	Silent	SNP	ENST00000331830.4	37	CCDS1449.1																																																																																				0.632	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076	
IL24	11009	broad.mit.edu	37	1	207074995	207074995	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:207074995A>T	ENST00000294984.2	+	5	734	c.460A>T	c.(460-462)Agt>Tgt	p.S154C	IL24_ENST00000367093.3_Intron|IL24_ENST00000491169.1_3'UTR|IL24_ENST00000391929.3_Missense_Mutation_p.S155C	NM_001185156.1|NM_006850.3	NP_001172085.1|NP_006841.1	Q13007	IL24_HUMAN	interleukin 24	154					apoptotic process (GO:0006915)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|serine phosphorylation of STAT3 protein (GO:0033136)|wound healing (GO:0042060)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)		p.S154C(1)		endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12	Breast(84;0.201)					ACTGCAACCcagtgtgagtag	0.488																																					p.S155C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A463T	1						.						92.0	84.0	87.0					1																	207074995		2203	4300	6503	205141618	SO:0001583	missense	11009	exon5			U16261	CCDS1471.1, CCDS53465.1, CCDS53466.1, CCDS73021.1	1q32	2011-07-15		2001-06-29	ENSG00000162892	ENSG00000162892		"""Interleukins and interleukin receptors"""	11346	protein-coding gene	gene with protein product	"""melanoma differentiation association protein 7"", ""suppression of tumorigenicity 16 (melanoma differentiation)"", ""IL-4-induced secreted protein"""	604136		ST16		8545104, 8799171	Standard	NM_001185156		Approved	mda-7, IL10B, Mob-5, C49A, FISP, IL-24	uc001heu.2	Q13007	OTTHUMG00000036459	ENST00000294984.2:c.460A>T	1.37:g.207074995A>T	ENSP00000294984:p.Ser154Cys		205141618	NM_001185156	Q2YHE5|Q53XZ7|Q5YLN8|Q96DB0|Q96KG4	Missense_Mutation	SNP	ENST00000294984.2	37	CCDS1471.1	.	.	.	.	.	.	.	.	.	.	A	3.139	-0.176694	0.06380	.	.	ENSG00000162892	ENST00000391929;ENST00000294984	T;T	0.04317	3.65;3.65	4.61	0.517	0.17025	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.166491	0.56097	D	0.000038	T	0.02610	0.0079	L	0.33189	0.99	0.09310	N	0.999995	B;B	0.12013	0.005;0.005	B;B	0.09377	0.004;0.004	T	0.47484	-0.9114	10	0.02654	T	1	-3.1523	4.3388	0.11099	0.4453:0.1747:0.0:0.38	.	155;154	Q53XZ7;Q13007	.;IL24_HUMAN	C	155;154	ENSP00000375795:S155C;ENSP00000294984:S154C	ENSP00000294984:S154C	S	+	1	0	IL24	205141618	0.007000	0.16637	0.202000	0.23494	0.491000	0.33493	0.421000	0.21280	0.259000	0.21709	0.454000	0.30748	AGT		0.488	IL24-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088680.2	NM_006850	
FCAMR	83953	broad.mit.edu	37	1	207135703	207135703	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:207135703A>G	ENST00000324852.4	-	5	981	c.507T>C	c.(505-507)cgT>cgC	p.R169R	FCAMR_ENST00000486178.1_5'Flank|FCAMR_ENST00000400962.3_Silent_p.R169R|FCAMR_ENST00000450945.2_Silent_p.R169R	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	124	Ig-like V-type.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R145R(1)|p.R169R(1)		endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						TGAGGGCCACACGGTCACGAT	0.572																																					p.R169R	Ovarian(199;1883 2142 16966 44409 45154)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T507C	1						.						106.0	99.0	101.0					1																	207135703		1568	3582	5150	205202326	SO:0001819	synonymous_variant	83953	exon5			AF354295	CCDS41460.1, CCDS53468.1	1q32.1	2013-01-14			ENSG00000162897	ENSG00000162897		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	24692	protein-coding gene	gene with protein product		605484				11779189	Standard	NM_001122979		Approved	FKSG87, FCA/MR, CD351	uc001hfa.4	Q8WWV6	OTTHUMG00000036579	ENST00000324852.4:c.507T>C	1.37:g.207135703A>G			205202326	NM_032029	Q32M82|Q8WWV5|Q96SA2	Silent	SNP	ENST00000324852.4	37	CCDS53468.1																																																																																				0.572	FCAMR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088969.2	NM_032029	
MUL1	79594	broad.mit.edu	37	1	20827424	20827424	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:20827424T>C	ENST00000264198.3	-	4	954	c.818A>G	c.(817-819)aAg>aGg	p.K273R		NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN	mitochondrial E3 ubiquitin protein ligase 1	273					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|cellular response to exogenous dsRNA (GO:0071360)|mitochondrial fission (GO:0000266)|mitochondrion localization (GO:0051646)|negative regulation of cell growth (GO:0030308)|negative regulation of chemokine (C-C motif) ligand 5 production (GO:0071650)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of innate immune response (GO:0045824)|negative regulation of mitochondrial fusion (GO:0010637)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein sumoylation (GO:0033235)|protein stabilization (GO:0050821)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)	cytoplasm (GO:0005737)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K273R(1)		endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		CTGCATCTGCTTGAGGCGCAG	0.597																																					p.K273R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A818G	1						.						48.0	49.0	49.0					1																	20827424		2203	4300	6503	20700011	SO:0001583	missense	79594	exon4			BC014010	CCDS208.1	1p36.12	2013-01-11	2010-09-17	2008-03-26	ENSG00000090432	ENSG00000090432		"""RING-type (C3HC4) zinc fingers"""	25762	protein-coding gene	gene with protein product	"""ring finger protein 218"", ""mitochondria-anchored protein ligase"", ""growth inhibition and death E3 ligase"", ""mitochondrial ubiquitin ligase activator of NFKB 1"""	612037	"""chromosome 1 open reading frame 166"""	C1orf166		18591963, 12761501, 18213395, 18207745	Standard	NM_024544		Approved	FLJ12875, MULAN, RNF218, MAPL, GIDE	uc001bdi.4	Q969V5	OTTHUMG00000002838	ENST00000264198.3:c.818A>G	1.37:g.20827424T>C	ENSP00000264198:p.Lys273Arg		20700011	NM_024544	B5M497|Q7Z431|Q9H9B5	Missense_Mutation	SNP	ENST00000264198.3	37	CCDS208.1	.	.	.	.	.	.	.	.	.	.	T	6.403	0.442562	0.12164	.	.	ENSG00000090432	ENST00000264198	T	0.20598	2.06	6.17	2.61	0.31194	.	0.591572	0.19939	N	0.102696	T	0.07999	0.0200	N	0.08118	0	0.25565	N	0.986957	B	0.02656	0.0	B	0.04013	0.001	T	0.40813	-0.9543	10	0.02654	T	1	-7.3706	8.1502	0.31137	0.0:0.2427:0.0:0.7573	.	273	Q969V5	MUL1_HUMAN	R	273	ENSP00000264198:K273R	ENSP00000264198:K273R	K	-	2	0	MUL1	20700011	0.079000	0.21365	0.755000	0.31263	0.978000	0.69477	0.734000	0.26101	0.206000	0.20587	0.533000	0.62120	AAG		0.597	MUL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007951.1	NM_024544	
MUL1	79594	broad.mit.edu	37	1	20827710	20827710	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:20827710G>A	ENST00000264198.3	-	4	668	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W		NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN	mitochondrial E3 ubiquitin protein ligase 1	178					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|cellular response to exogenous dsRNA (GO:0071360)|mitochondrial fission (GO:0000266)|mitochondrion localization (GO:0051646)|negative regulation of cell growth (GO:0030308)|negative regulation of chemokine (C-C motif) ligand 5 production (GO:0071650)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of innate immune response (GO:0045824)|negative regulation of mitochondrial fusion (GO:0010637)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein sumoylation (GO:0033235)|protein stabilization (GO:0050821)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)	cytoplasm (GO:0005737)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R178W(1)		endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		CCTTTGGGCCGCTCACCGCTG	0.582																																					p.R178W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C532T	1						.						86.0	86.0	86.0					1																	20827710		2203	4300	6503	20700297	SO:0001583	missense	79594	exon4			BC014010	CCDS208.1	1p36.12	2013-01-11	2010-09-17	2008-03-26	ENSG00000090432	ENSG00000090432		"""RING-type (C3HC4) zinc fingers"""	25762	protein-coding gene	gene with protein product	"""ring finger protein 218"", ""mitochondria-anchored protein ligase"", ""growth inhibition and death E3 ligase"", ""mitochondrial ubiquitin ligase activator of NFKB 1"""	612037	"""chromosome 1 open reading frame 166"""	C1orf166		18591963, 12761501, 18213395, 18207745	Standard	NM_024544		Approved	FLJ12875, MULAN, RNF218, MAPL, GIDE	uc001bdi.4	Q969V5	OTTHUMG00000002838	ENST00000264198.3:c.532C>T	1.37:g.20827710G>A	ENSP00000264198:p.Arg178Trp		20700297	NM_024544	B5M497|Q7Z431|Q9H9B5	Missense_Mutation	SNP	ENST00000264198.3	37	CCDS208.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230677	0.79688	.	.	ENSG00000090432	ENST00000264198	T	0.26373	1.74	6.17	3.05	0.35203	.	0.000000	0.85682	D	0.000000	T	0.46776	0.1410	M	0.75777	2.31	0.80722	D	1	D	0.76494	0.999	D	0.63957	0.92	T	0.49234	-0.8961	10	0.51188	T	0.08	-34.0517	13.3594	0.60646	0.0:0.0:0.5937:0.4063	.	178	Q969V5	MUL1_HUMAN	W	178	ENSP00000264198:R178W	ENSP00000264198:R178W	R	-	1	2	MUL1	20700297	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.410000	0.59774	0.866000	0.35629	0.655000	0.94253	CGG		0.582	MUL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007951.1	NM_024544	
CR1	1378	broad.mit.edu	37	1	207718750	207718750	+	Silent	SNP	C	C	T	rs548022558		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:207718750C>T	ENST00000367049.4	+	14	2334	c.2334C>T	c.(2332-2334)ccC>ccT	p.P778P	CR1_ENST00000367051.1_Silent_p.P328P|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367052.1_Silent_p.P778P|CR1_ENST00000367053.1_Intron|CR1_ENST00000400960.2_Intron	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	328	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.P778P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCTGTGAGCCCGGCTACGACC	0.587													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14206	0.0		0.0	False		,,,				2504	0.0				p.P778P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2334T	1						.						68.0	40.0	51.0					1																	207718750		1744	2599	4343	205785373	SO:0001819	synonymous_variant	1378	exon14			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.2334C>T	1.37:g.207718750C>T			205785373	NM_000651	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Silent	SNP	ENST00000367049.4	37	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	c	7.365	0.625571	0.14257	.	.	ENSG00000203710	ENST00000529814	T	0.66099	-0.19	2.63	-5.27	0.02763	.	.	.	.	.	T	0.58004	0.2092	.	.	.	0.47245	D	0.999363	.	.	.	.	.	.	T	0.58741	-0.7583	6	0.54805	T	0.06	.	4.7747	0.13173	0.1576:0.2195:0.0:0.6229	.	.	.	.	L	304	ENSP00000434718:P304L	ENSP00000434718:P304L	P	+	2	0	CR1	205785373	0.000000	0.05858	0.278000	0.24718	0.207000	0.24258	-3.330000	0.00509	-1.553000	0.01702	0.298000	0.19748	CCG		0.587	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573	
IRF6	3664	broad.mit.edu	37	1	209969771	209969771	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:209969771T>C	ENST00000367021.3	-	4	473	c.301A>G	c.(301-303)Aag>Gag	p.K101E	IRF6_ENST00000542854.1_Missense_Mutation_p.K6E	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	101					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K101E(1)		cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		GGCACCTCCTTGGTGCCATCA	0.552										HNSCC(57;0.16)																											p.K101E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A301G	1						.						119.0	105.0	110.0					1																	209969771		2203	4300	6503	208036394	SO:0001583	missense	3664	exon4			AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.301A>G	1.37:g.209969771T>C	ENSP00000355988:p.Lys101Glu		208036394	NM_006147	B4DLE2|D3DT90|F5GWX8|G0ZTL0	Missense_Mutation	SNP	ENST00000367021.3	37	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.589982	0.86851	.	.	ENSG00000117595	ENST00000367021;ENST00000542854;ENST00000456314	D;D;D	0.97976	-4.64;-4.56;-4.64	5.63	5.63	0.86233	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (3);	0.044446	0.85682	D	0.000000	D	0.97807	0.9280	M	0.76574	2.34	0.52501	D	0.999959	P	0.39480	0.675	P	0.50708	0.648	D	0.97535	1.0082	9	.	.	.	.	12.9554	0.58424	0.0:0.0:0.1345:0.8655	.	101	O14896	IRF6_HUMAN	E	101;6;101	ENSP00000355988:K101E;ENSP00000440532:K6E;ENSP00000403855:K101E	.	K	-	1	0	IRF6	208036394	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.516000	0.81772	2.145000	0.66743	0.533000	0.62120	AAG		0.552	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147	
KCNK2	3776	broad.mit.edu	37	1	215342564	215342564	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:215342564C>T	ENST00000444842.2	+	4	648	c.498C>T	c.(496-498)cgC>cgT	p.R166R	KCNK2_ENST00000391895.2_Silent_p.R162R|KCNK2_ENST00000391894.2_Silent_p.R151R	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	166					G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)	p.R151R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	TCTCACCACGCACAGAAGGCG	0.368																																					p.R162R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C486T	1						.						135.0	139.0	138.0					1																	215342564		2203	4300	6503	213409187	SO:0001819	synonymous_variant	3776	exon4			AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.498C>T	1.37:g.215342564C>T			213409187	NM_001017424	A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Silent	SNP	ENST00000444842.2	37	CCDS41467.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234634	0.79800	.	.	ENSG00000082482	ENST00000366948	.	.	.	6.16	-3.96	0.04106	.	.	.	.	.	T	0.50343	0.1610	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51252	-0.8729	5	0.40728	T	0.16	.	4.3906	0.11339	0.0841:0.4413:0.1603:0.3143	.	.	.	.	V	123	.	ENSP00000355915:A123V	A	+	2	0	KCNK2	213409187	0.553000	0.26513	0.960000	0.40013	0.976000	0.68499	-0.205000	0.09411	-0.567000	0.06046	-0.813000	0.03139	GCA		0.368	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2	NM_014217	
USH2A	7399	broad.mit.edu	37	1	215802243	215802243	+	Silent	SNP	G	G	A	rs145362017		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:215802243G>A	ENST00000307340.3	-	71	15818	c.15432C>T	c.(15430-15432)agC>agT	p.S5144S	USH2A_ENST00000366943.2_Silent_p.S5168S|SNORD116_ENST00000365628.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5144					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.S5144S(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCTGGCTGACGCTGCGGTGAA	0.537										HNSCC(13;0.011)			G|||	1	0.000199681	0.0008	0.0	5008	,	,		17345	0.0		0.0	False		,,,				2504	0.0				p.S5144S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C15432T	1						.	G		0,4406		0,0,2203	115.0	113.0	114.0		15432	-8.4	0.4	1	dbSNP_134	114	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	USH2A	NM_206933.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		5144/5203	215802243	2,13004	2203	4300	6503	213868866	SO:0001819	synonymous_variant	7399	exon71			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.15432C>T	1.37:g.215802243G>A			213868866	NM_206933	Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	CCDS31025.1																																																																																				0.537	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
USH2A	7399	broad.mit.edu	37	1	215963553	215963553	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:215963553A>G	ENST00000307340.3	-	51	10416	c.10030T>C	c.(10030-10032)Tct>Cct	p.S3344P	USH2A_ENST00000366943.2_Missense_Mutation_p.S3344P	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3344					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.S3344P(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGTGCTTTAGACTCTCCACTG	0.378										HNSCC(13;0.011)																											p.S3344P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T10030C	1						.						125.0	119.0	121.0					1																	215963553		2203	4300	6503	214030176	SO:0001583	missense	7399	exon51			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10030T>C	1.37:g.215963553A>G	ENSP00000305941:p.Ser3344Pro		214030176	NM_206933	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	14.26	2.481434	0.44147	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.13420	2.6;2.59	5.91	5.91	0.95273	Fibronectin, type III (2);	0.000000	0.44688	D	0.000424	T	0.19846	0.0477	M	0.61703	1.905	0.45806	D	0.998682	B	0.32071	0.355	B	0.33121	0.158	T	0.01059	-1.1465	10	0.59425	D	0.04	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	3344	O75445	USH2A_HUMAN	P	3344	ENSP00000305941:S3344P;ENSP00000355910:S3344P	ENSP00000305941:S3344P	S	-	1	0	USH2A	214030176	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.426000	0.66476	2.254000	0.74563	0.533000	0.62120	TCT		0.378	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
USH2A	7399	broad.mit.edu	37	1	216251460	216251460	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:216251460T>G	ENST00000307340.3	-	27	5929	c.5543A>C	c.(5542-5544)aAc>aCc	p.N1848T	RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.N1848T|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1848	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.N1848T(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTGATAAGAGTTCAGCAGTTC	0.463										HNSCC(13;0.011)																											p.N1848T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5543C	1						.						80.0	84.0	83.0					1																	216251460		2203	4300	6503	214318083	SO:0001583	missense	7399	exon27			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5543A>C	1.37:g.216251460T>G	ENSP00000305941:p.Asn1848Thr		214318083	NM_206933	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	13.63	2.294179	0.40594	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.77489	-1.1;-1.1	5.01	-0.455	0.12193	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.681568	0.12407	N	0.471618	T	0.62036	0.2395	L	0.43152	1.355	0.09310	N	1	B	0.27625	0.183	B	0.31495	0.131	T	0.46148	-0.9212	10	0.10111	T	0.7	.	2.1855	0.03885	0.1149:0.2055:0.119:0.5606	.	1848	O75445	USH2A_HUMAN	T	1848	ENSP00000305941:N1848T;ENSP00000355910:N1848T	ENSP00000305941:N1848T	N	-	2	0	USH2A	214318083	0.001000	0.12720	0.000000	0.03702	0.411000	0.31082	1.045000	0.30341	-0.368000	0.08040	-0.297000	0.09499	AAC		0.463	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
USH2A	7399	broad.mit.edu	37	1	216348759	216348759	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:216348759A>C	ENST00000307340.3	-	21	4848	c.4462T>G	c.(4462-4464)Ttt>Gtt	p.F1488V	USH2A_ENST00000366943.2_Missense_Mutation_p.F1488V|USH2A_ENST00000366942.3_Missense_Mutation_p.F1488V	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1488					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCAGGTGGAAACCACCTAAGA	0.433										HNSCC(13;0.011)																											p.F1488V												.	.	0			c.T4462G	1						.						128.0	116.0	120.0					1																	216348759		2203	4300	6503	214415382	SO:0001583	missense	7399	exon21			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.4462T>G	1.37:g.216348759A>C	ENSP00000305941:p.Phe1488Val		214415382	NM_206933	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	11.02	1.516711	0.27123	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.52754	0.65;0.65;0.65	5.56	0.279	0.15677	Fibronectin, type III (1);Immunoglobulin-like fold (1);	1.205190	0.06320	U	0.704313	T	0.23370	0.0565	N	0.08118	0	0.20563	N	0.999881	B;B	0.12630	0.006;0.006	B;B	0.18263	0.021;0.007	T	0.18241	-1.0343	10	0.23302	T	0.38	.	1.7921	0.03053	0.2051:0.1975:0.4467:0.1508	.	1488;1488	O75445-2;O75445	.;USH2A_HUMAN	V	1488	ENSP00000305941:F1488V;ENSP00000355910:F1488V;ENSP00000355909:F1488V	ENSP00000305941:F1488V	F	-	1	0	USH2A	214415382	0.135000	0.22499	0.124000	0.21820	0.966000	0.64601	0.242000	0.18087	0.060000	0.16281	0.445000	0.29226	TTT		0.433	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
IARS2	55699	broad.mit.edu	37	1	220298646	220298646	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:220298646C>T	ENST00000302637.5	+	13	1812	c.1708C>T	c.(1708-1710)Cct>Tct	p.P570S	IARS2_ENST00000366922.1_Missense_Mutation_p.P498S	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	570					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.P570S(1)		NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	GACTCTTCCCCCTGAACAACT	0.388																																					p.P570S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1708T	1						.						90.0	85.0	87.0					1																	220298646		2203	4300	6503	218365269	SO:0001583	missense	55699	exon13			AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.1708C>T	1.37:g.220298646C>T	ENSP00000303279:p.Pro570Ser		218365269	NM_018060	B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Missense_Mutation	SNP	ENST00000302637.5	37	CCDS1523.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.580593	0.28180	.	.	ENSG00000067704	ENST00000366922;ENST00000302637	T;T	0.41065	1.01;1.01	5.55	3.63	0.41609	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.514144	0.22047	N	0.065373	T	0.36635	0.0974	L	0.49350	1.555	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.31420	-0.9944	10	0.54805	T	0.06	-2.1004	10.038	0.42139	0.3193:0.5564:0.1244:0.0	.	570	Q9NSE4	SYIM_HUMAN	S	498;570	ENSP00000355889:P498S;ENSP00000303279:P570S	ENSP00000303279:P570S	P	+	1	0	IARS2	218365269	0.055000	0.20627	0.021000	0.16686	0.826000	0.46750	0.715000	0.25822	0.670000	0.31165	0.467000	0.42956	CCT		0.388	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018060	
HSPG2	3339	broad.mit.edu	37	1	22214100	22214100	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:22214100C>T	ENST00000374695.3	-	8	850	c.771G>A	c.(769-771)cgG>cgA	p.R257R		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	257					angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.R257R(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TTGTCTCTGGCCGGGGCGGTA	0.622																																					p.R257R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G771A	1						.						99.0	116.0	110.0					1																	22214100		2203	4300	6503	22086687	SO:0001819	synonymous_variant	3339	exon8			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.771G>A	1.37:g.22214100C>T			22086687	NM_005529	Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490562	0.64074	.	.	ENSG00000142798	ENST00000412328;ENST00000374673	T	0.57436	0.4	5.09	3.19	0.36642	.	.	.	.	.	T	0.38453	0.1041	.	.	.	0.58432	D	0.999992	P	0.34724	0.465	B	0.33521	0.165	T	0.07770	-1.0755	7	.	.	.	.	8.572	0.33576	0.0:0.7589:0.1546:0.0864	.	180	Q5SZI5	.	D	180;84	ENSP00000405412:G180D	.	G	-	2	0	HSPG2	22086687	0.258000	0.24033	0.016000	0.15963	0.005000	0.04900	0.317000	0.19487	0.545000	0.28902	0.462000	0.41574	GGC		0.622	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529	
HLX	3142	broad.mit.edu	37	1	221057858	221057858	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:221057858A>G	ENST00000366903.6	+	4	2780	c.1279A>G	c.(1279-1281)Agc>Ggc	p.S427G	HLX_ENST00000549319.1_Missense_Mutation_p.S213G	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	427	Ser-rich.				cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.S427G(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		tggtgggagcagcggcggcgg	0.642																																					p.S427G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1279G	1						.						28.0	26.0	27.0					1																	221057858		2203	4300	6503	219124481	SO:0001583	missense	3142	exon4			BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"""Homeoboxes / ANTP class : NKL subclass"""	4978	protein-coding gene	gene with protein product		142995	"""H2.0 (Drosophila)-like homeo box 1"", ""H2.0-like homeobox 1 (Drosophila)"", ""H2.0-like homeobox 1"""	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.1279A>G	1.37:g.221057858A>G	ENSP00000355870:p.Ser427Gly		219124481	NM_021958	B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	ENST00000366903.6	37	CCDS1527.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.741692	0.00675	.	.	ENSG00000136630	ENST00000366903;ENST00000549319	D;D	0.90444	-2.5;-2.67	1.32	-2.63	0.06133	.	1.142920	0.06896	N	0.805122	T	0.74854	0.3771	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.60311	-0.7288	10	0.19147	T	0.46	-0.3329	6.6649	0.23035	0.583:0.0:0.417:0.0	.	427	Q14774	HLX_HUMAN	G	427;213	ENSP00000355870:S427G;ENSP00000449882:S213G	ENSP00000355870:S427G	S	+	1	0	HLX	219124481	0.969000	0.33509	0.006000	0.13384	0.122000	0.20287	0.594000	0.24014	-1.045000	0.03250	-0.589000	0.04120	AGC		0.642	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	NM_021958	
AIDA	64853	broad.mit.edu	37	1	222867564	222867564	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:222867564A>G	ENST00000340020.6	-	3	428	c.222T>C	c.(220-222)agT>agC	p.S74S	AIDA_ENST00000474863.1_5'UTR|AIDA_ENST00000541237.1_Silent_p.S50S|AIDA_ENST00000355727.2_Silent_p.S74S	NM_022831.2	NP_073742.2	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated	74					dorsal/ventral pattern formation (GO:0009953)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|regulation of protein homodimerization activity (GO:0043496)	cytoplasm (GO:0005737)		p.S74S(1)		kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						GTAAAGCTGCACTTCGCAATT	0.318																																					p.S74S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T222C	1						.						129.0	142.0	138.0					1																	222867564		2203	4297	6500	220934187	SO:0001819	synonymous_variant	64853	exon3			BC043142	CCDS1533.1	1q41	2008-05-22	2008-05-22	2008-05-22	ENSG00000186063	ENSG00000186063			25761	protein-coding gene	gene with protein product	"""axin interaction partner and dorsalization antagonist"""	612375	"""chromosome 1 open reading frame 80"""	C1orf80		8619474, 9110174, 17681137	Standard	NM_022831		Approved	FLJ12806	uc001hnn.3	Q96BJ3	OTTHUMG00000037653	ENST00000340020.6:c.222T>C	1.37:g.222867564A>G			220934187	NM_022831	A8K1F0|Q49A81|Q5JRA4|Q658P1|Q9H9E8	Silent	SNP	ENST00000340020.6	37	CCDS1533.1																																																																																				0.318	AIDA-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091818.1	NM_022831	
DISP1	84976	broad.mit.edu	37	1	223179238	223179238	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:223179238A>G	ENST00000284476.6	+	8	4663	c.4499A>G	c.(4498-4500)aAc>aGc	p.N1500S		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1500					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.N1500S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CAAATGCCAAACATGGAAGCC	0.398																																					p.N1500S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4499G	1						.						58.0	54.0	55.0					1																	223179238		2203	4300	6503	221245861	SO:0001583	missense	84976	exon8			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.4499A>G	1.37:g.223179238A>G	ENSP00000284476:p.Asn1500Ser		221245861	NM_032890	Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	A	13.20	2.165634	0.38217	.	.	ENSG00000154309	ENST00000284476	D	0.92048	-2.96	5.52	0.537	0.17144	.	0.644773	0.16124	N	0.228485	D	0.84257	0.5432	L	0.29908	0.895	0.23920	N	0.996462	B	0.10296	0.003	B	0.09377	0.004	T	0.73216	-0.4053	10	0.62326	D	0.03	-9.8079	6.0797	0.19935	0.6732:0.1257:0.2011:0.0	.	1500	Q96F81	DISP1_HUMAN	S	1500	ENSP00000284476:N1500S	ENSP00000284476:N1500S	N	+	2	0	DISP1	221245861	1.000000	0.71417	0.007000	0.13788	0.987000	0.75469	1.817000	0.39002	-0.155000	0.11098	0.533000	0.62120	AAC		0.398	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890	
LEFTY1	10637	broad.mit.edu	37	1	226074670	226074670	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:226074670C>T	ENST00000272134.5	-	4	937	c.858G>A	c.(856-858)ccG>ccA	p.P286P	RP4-559A3.7_ENST00000432920.2_3'UTR|LEFTY1_ENST00000492457.1_5'Flank	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN	left-right determination factor 1	286					cell growth (GO:0016049)|determination of left/right symmetry (GO:0007368)|heart morphogenesis (GO:0003007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)		p.P286P(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					CCAGGAAGCCCGGGGGCTCCA	0.662																																					p.P286P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G858A	1						.						19.0	24.0	22.0					1																	226074670		2203	4300	6503	224141293	SO:0001819	synonymous_variant	10637	exon4			AF081507	CCDS1548.1	1q42.1	2008-02-05	2004-11-17	2004-11-17	ENSG00000243709	ENSG00000243709			6552	protein-coding gene	gene with protein product		603037	"""left-right determination, factor B"""	LEFTB		10053005, 10886363	Standard	NM_020997		Approved	LEFTYB	uc001hpo.3	O75610	OTTHUMG00000037443	ENST00000272134.5:c.858G>A	1.37:g.226074670C>T			224141293	NM_020997	B2R7U0|Q53H67|Q5TE94	Silent	SNP	ENST00000272134.5	37	CCDS1548.1																																																																																				0.662	LEFTY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091155.1	NM_020997	
ACTA1	58	broad.mit.edu	37	1	229568771	229568771	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:229568771G>A	ENST00000366684.3	-	2	194	c.92C>T	c.(91-93)gCc>gTc	p.A31V	ACTA1_ENST00000366683.2_Missense_Mutation_p.A31V	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	31					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)	p.A31V(1)		endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				CGGGAACACGGCCCTAGGGGC	0.697																																					p.A31V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C92T	1						.						32.0	36.0	34.0					1																	229568771		2203	4300	6503	227635394	SO:0001583	missense	58	exon2			J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.92C>T	1.37:g.229568771G>A	ENSP00000355645:p.Ala31Val		227635394	NM_001100	P02568|P99020|Q5T8M9	Missense_Mutation	SNP	ENST00000366684.3	37	CCDS1578.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660969	0.67700	.	.	ENSG00000143632	ENST00000366684;ENST00000308794;ENST00000366683;ENST00000366682;ENST00000342787	D;D	0.89343	-2.5;-2.5	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	D	0.87700	0.6243	L	0.51914	1.62	0.42653	D	0.99345	P	0.44734	0.842	B	0.43194	0.411	D	0.89961	0.4086	10	0.87932	D	0	.	16.4956	0.84242	0.0:0.0:1.0:0.0	.	31	P68133	ACTS_HUMAN	V	31	ENSP00000355645:A31V;ENSP00000355644:A31V	ENSP00000312351:A31V	A	-	2	0	ACTA1	227635394	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	9.639000	0.98448	2.419000	0.82065	0.655000	0.94253	GCC		0.697	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100	
GALNT2	2590	broad.mit.edu	37	1	230379147	230379147	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:230379147G>A	ENST00000366672.4	+	7	775	c.703G>A	c.(703-705)Gag>Aag	p.E235K	GALNT2_ENST00000543760.1_Missense_Mutation_p.E197K|GALNT2_ENST00000541865.1_Missense_Mutation_p.E145K	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	235	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.E235K(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GCACTGGCTGGAGCCCCTCCT	0.642																																					p.E235K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G703A	1						.						45.0	45.0	45.0					1																	230379147		2203	4300	6503	228445770	SO:0001583	missense	2590	exon7			BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.703G>A	1.37:g.230379147G>A	ENSP00000355632:p.Glu235Lys		228445770	NM_004481	A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Missense_Mutation	SNP	ENST00000366672.4	37	CCDS1582.1	.	.	.	.	.	.	.	.	.	.	G	36	5.839646	0.97009	.	.	ENSG00000143641	ENST00000543760;ENST00000366672;ENST00000543291;ENST00000541865	T;T;T	0.66460	-0.21;-0.21;-0.21	5.5	5.5	0.81552	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	D	0.84170	0.5413	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86317	0.1690	10	0.72032	D	0.01	.	18.1604	0.89706	0.0:0.0:1.0:0.0	.	235;197	Q10471;G3V1S6	GALT2_HUMAN;.	K	197;235;116;145	ENSP00000445017:E197K;ENSP00000355632:E235K;ENSP00000444346:E145K	ENSP00000355632:E235K	E	+	1	0	GALNT2	228445770	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.313000	0.96297	2.595000	0.87683	0.462000	0.41574	GAG		0.642	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481	
LUZP1	7798	broad.mit.edu	37	1	23419153	23419153	+	Silent	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:23419153G>T	ENST00000302291.4	-	4	2403	c.1602C>A	c.(1600-1602)tcC>tcA	p.S534S	LUZP1_ENST00000418342.1_Silent_p.S534S|LUZP1_ENST00000314174.5_Silent_p.S534S|LUZP1_ENST00000374623.3_Silent_p.S534S			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	534					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)		p.S534S(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CAGTCTCAGAGGAGGTGTCAG	0.527																																					p.S534S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1602A	1						.						163.0	148.0	153.0					1																	23419153		2203	4300	6503	23291740	SO:0001819	synonymous_variant	7798	exon4			BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.1602C>A	1.37:g.23419153G>T			23291740	NM_033631	Q5TH93|Q8N4X3|Q8TEH1	Silent	SNP	ENST00000302291.4	37	CCDS30628.1																																																																																				0.527	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631	
DISC1	27185	broad.mit.edu	37	1	231829852	231829852	+	Silent	SNP	G	G	A	rs189101828		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:231829852G>A	ENST00000602281.1	+	2	401	c.348G>A	c.(346-348)gcG>gcA	p.A116A	DISC1_ENST00000602873.1_Intron|DISC1_ENST00000366633.3_Silent_p.A116A|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000537876.1_Silent_p.A116A|DISC1_ENST00000539444.1_Silent_p.A116A|DISC1_ENST00000439617.2_Silent_p.A116A|DISC1_ENST00000317586.4_Silent_p.A116A|DISC1_ENST00000535983.1_Silent_p.A116A|DISC1_ENST00000366636.4_Silent_p.A116A	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	116	Interaction with MAP1A.		A -> V (in dbSNP:rs56020408).		canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GAACCTCGGCGCACTTTGGGA	0.607													g|||	1	0.000199681	0.0	0.0	5008	,	,		18462	0.0		0.001	False		,,,				2504	0.0				p.A116A												.	.	0			c.G348A	1						.						40.0	39.0	39.0					1																	231829852		2203	4300	6503	229896475	SO:0001819	synonymous_variant	27185	exon2			AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.348G>A	1.37:g.231829852G>A			229896475	NM_001164539	A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Silent	SNP	ENST00000602281.1	37	CCDS59205.1																																																																																				0.607	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	NM_018662	
LYST	1130	broad.mit.edu	37	1	235940533	235940533	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:235940533C>A	ENST00000389794.3	-	17	5464	c.5290G>T	c.(5290-5292)Ggt>Tgt	p.G1764C	LYST_ENST00000389793.2_Missense_Mutation_p.G1764C|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1764					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.G1764C(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTCATTTGACCTTTAAGTCTA	0.358																																					p.G1764C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5290T	1						.						154.0	155.0	155.0					1																	235940533		2203	4300	6503	234007156	SO:0001583	missense	1130	exon17			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.5290G>T	1.37:g.235940533C>A	ENSP00000374444:p.Gly1764Cys		234007156	NM_000081	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196811	0.79015	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.64438	-0.1;-0.1	5.43	4.52	0.55395	.	0.043597	0.85682	D	0.000000	T	0.74465	0.3720	M	0.65975	2.015	0.80722	D	1	D	0.76494	0.999	P	0.62089	0.898	T	0.77555	-0.2544	10	0.62326	D	0.03	.	14.2669	0.66123	0.0:0.9283:0.0:0.0717	.	1764	Q99698	LYST_HUMAN	C	1764	ENSP00000374444:G1764C;ENSP00000374443:G1764C	ENSP00000374443:G1764C	G	-	1	0	LYST	234007156	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.022000	0.49659	1.440000	0.47531	0.650000	0.86243	GGT		0.358	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5		
NID1	4811	broad.mit.edu	37	1	236212062	236212062	+	Silent	SNP	G	G	A	rs201727792		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:236212062G>A	ENST00000264187.6	-	2	535	c.453C>T	c.(451-453)agC>agT	p.S151S	NID1_ENST00000366595.3_Silent_p.S151S	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	151	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.S151S(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	CAACCACCGCGCTACTAGGCT	0.577													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18425	0.0		0.0	False		,,,				2504	0.0				p.S151S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C453T	1						.						64.0	62.0	63.0					1																	236212062		2203	4300	6503	234278685	SO:0001819	synonymous_variant	4811	exon2			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.453C>T	1.37:g.236212062G>A			234278685	NM_002508	Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Silent	SNP	ENST00000264187.6	37	CCDS1608.1																																																																																				0.577	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508	
RYR2	6262	broad.mit.edu	37	1	237730031	237730031	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:237730031G>A	ENST00000366574.2	+	28	3696	c.3379G>A	c.(3379-3381)Gag>Aag	p.E1127K	RYR2_ENST00000542537.1_Missense_Mutation_p.E1111K|RYR2_ENST00000360064.6_Missense_Mutation_p.E1125K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1127	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.E1125K(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACCGGATCAGGAGCTTGGCTC	0.532																																					p.E1127K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3379A	1						.						209.0	209.0	209.0					1																	237730031		2082	4210	6292	235796654	SO:0001583	missense	6262	exon28			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3379G>A	1.37:g.237730031G>A	ENSP00000355533:p.Glu1127Lys		235796654	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	32	5.128471	0.94473	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.68479	-0.33;-0.33;-0.33	5.29	5.29	0.74685	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000007	T	0.70701	0.3254	M	0.82132	2.575	0.80722	D	1	B	0.30326	0.276	B	0.29267	0.1	T	0.71745	-0.4500	10	0.46703	T	0.11	.	18.9442	0.92615	0.0:0.0:1.0:0.0	.	1127	Q92736	RYR2_HUMAN	K	1127;1125;1111	ENSP00000355533:E1127K;ENSP00000353174:E1125K;ENSP00000443798:E1111K	ENSP00000353174:E1125K	E	+	1	0	RYR2	235796654	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	9.864000	0.99589	2.465000	0.83290	0.655000	0.94253	GAG		0.532	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	broad.mit.edu	37	1	237756832	237756832	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:237756832C>T	ENST00000366574.2	+	33	4649	c.4332C>T	c.(4330-4332)ggC>ggT	p.G1444G	RYR2_ENST00000542537.1_Silent_p.G1428G|RYR2_ENST00000360064.6_Silent_p.G1442G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1444	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.G1442G(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCTGGGTGGGCTGGATTACAT	0.408																																					p.G1444G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4332T	1						.						107.0	99.0	101.0					1																	237756832		1911	4118	6029	235823455	SO:0001819	synonymous_variant	6262	exon33			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4332C>T	1.37:g.237756832C>T			235823455	NM_001035	Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	CCDS55691.1																																																																																				0.408	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	broad.mit.edu	37	1	237819186	237819186	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:237819186T>C	ENST00000366574.2	+	53	8348	c.8031T>C	c.(8029-8031)ccT>ccC	p.P2677P	RYR2_ENST00000542537.1_Silent_p.P2661P|RYR2_ENST00000360064.6_Silent_p.P2675P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2677	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.P2675P(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGCTTTGCCTCCAGACTACA	0.403																																					p.P2677P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T8031C	1						.						55.0	54.0	54.0					1																	237819186		1851	4097	5948	235885809	SO:0001819	synonymous_variant	6262	exon53			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.8031T>C	1.37:g.237819186T>C			235885809	NM_001035	Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	CCDS55691.1																																																																																				0.403	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	broad.mit.edu	37	1	237947596	237947596	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:237947596A>G	ENST00000366574.2	+	90	12901	c.12584A>G	c.(12583-12585)gAc>gGc	p.D4195G	RYR2_ENST00000542537.1_Missense_Mutation_p.D4179G|RYR2_ENST00000360064.6_Missense_Mutation_p.D4201G|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4195					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.D4193G(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTCTGCGAGGACACCATCTTT	0.507																																					p.D4195G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A12584G	1						.						81.0	86.0	85.0					1																	237947596		2014	4186	6200	236014219	SO:0001583	missense	6262	exon90			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12584A>G	1.37:g.237947596A>G	ENSP00000355533:p.Asp4195Gly		236014219	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.453146	0.84209	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.97620	-4.46;-4.46;-4.46	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000003	D	0.98611	0.9535	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.87578	0.998;0.908	D	0.99777	1.1026	10	0.87932	D	0	.	15.6781	0.77344	1.0:0.0:0.0:0.0	.	1169;4195	B4DGV4;Q92736	.;RYR2_HUMAN	G	4195;4201;4179;1169	ENSP00000355533:D4195G;ENSP00000353174:D4201G;ENSP00000443798:D4179G	ENSP00000353174:D4201G	D	+	2	0	RYR2	236014219	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.287000	0.95975	2.109000	0.64355	0.533000	0.62120	GAC		0.507	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
CEP170	9859	broad.mit.edu	37	1	243327952	243327952	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:243327952G>A	ENST00000366542.1	-	13	3361	c.3310C>T	c.(3310-3312)Cgc>Tgc	p.R1104C	CEP170_ENST00000366544.1_Missense_Mutation_p.R1006C|RP11-261C10.4_ENST00000437499.1_RNA|CEP170_ENST00000366543.1_Missense_Mutation_p.R1006C|CEP170_ENST00000490813.1_5'Flank|RP11-261C10.4_ENST00000422938.1_RNA	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1104	Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)		p.R1104C(1)		NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CGTGCTCTGCGCAAGAGGGAA	0.458																																					p.R1006C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3016T	1						.						69.0	64.0	66.0					1																	243327952		1952	4142	6094	241394575	SO:0001583	missense	9859	exon12			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.3310C>T	1.37:g.243327952G>A	ENSP00000355500:p.Arg1104Cys		241394575	NM_001042405	O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	CCDS44339.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.836884	0.71373	.	.	ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000532008	T;T;T	0.78481	-1.14;-1.18;-1.18	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.87676	0.6237	M	0.75777	2.31	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.995;0.995;0.996	D	0.87852	0.2658	9	.	.	.	-4.8178	17.378	0.87398	0.0:0.0:1.0:0.0	.	1067;1006;1006;1104	B1ARM6;Q5SW79-3;Q5SW79-2;Q5SW79	.;.;.;CE170_HUMAN	C	1104;1006;1006;65	ENSP00000355500:R1104C;ENSP00000355502:R1006C;ENSP00000355501:R1006C	.	R	-	1	0	CEP170	241394575	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.159000	0.94728	2.318000	0.78349	0.555000	0.69702	CGC		0.458	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812	
CEP170	9859	broad.mit.edu	37	1	243363909	243363909	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:243363909G>A	ENST00000366542.1	-	6	458	c.407C>T	c.(406-408)gCc>gTc	p.A136V	CEP170_ENST00000366544.1_Missense_Mutation_p.A136V|CEP170_ENST00000366543.1_Missense_Mutation_p.A136V	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	136						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)		p.A136V(1)		NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TATGCTTTTGGCACTTGCAGA	0.403																																					p.A136V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C407T	1						.						6.0	5.0	5.0					1																	243363909		1713	3859	5572	241430532	SO:0001583	missense	9859	exon6			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.407C>T	1.37:g.243363909G>A	ENSP00000355500:p.Ala136Val		241430532	NM_001042405	O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.81|17.81	3.481201|3.481201	0.63849|0.63849	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000424081|ENST00000336415	T;T;T|.	0.32753|.	1.44;1.44;1.44|.	4.96|4.96	4.04|4.04	0.47022|0.47022	.|.	0.297475|.	0.36740|.	N|.	0.002435|.	T|T	0.52224|0.52224	0.1721|0.1721	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	B;B;B|.	0.32101|.	0.039;0.356;0.008|.	B;B;B|.	0.34536|.	0.031;0.185;0.014|.	T|T	0.46512|0.46512	-0.9186|-0.9186	10|5	0.46703|.	T|.	0.11|.	-2.9642|-2.9642	13.143|13.143	0.59446|0.59446	0.0772:0.0:0.9228:0.0|0.0772:0.0:0.9228:0.0	.|.	136;136;136|.	Q5SW79-3;Q5SW79-2;Q5SW79|.	.;.;CE170_HUMAN|.	V|S	136;136;136;34|38	ENSP00000355500:A136V;ENSP00000355502:A136V;ENSP00000355501:A136V|.	ENSP00000355500:A136V|.	A|P	-|-	2|1	0|0	CEP170|CEP170	241430532|241430532	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	2.957000|2.957000	0.49137|0.49137	1.226000|1.226000	0.43582|0.43582	0.555000|0.555000	0.69702|0.69702	GCC|CCA		0.403	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812	
ADSS	159	broad.mit.edu	37	1	244587290	244587290	+	Silent	SNP	G	G	A	rs201478770		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:244587290G>A	ENST00000366535.3	-	6	862	c.546C>T	c.(544-546)tgC>tgT	p.C182C	ADSS_ENST00000462358.1_5'UTR	NM_001126.3	NP_001117.2			adenylosuccinate synthase									p.C182C(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)			AAACAAGGTCGCACATCCTGA	0.378																																					p.C182C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C546T	1						.						71.0	68.0	69.0					1																	244587290		2203	4300	6503	242653913	SO:0001819	synonymous_variant	159	exon6			BC012356	CCDS1624.1	1q44	2008-02-05			ENSG00000035687	ENSG00000035687	6.3.4.4		292	protein-coding gene	gene with protein product		103060				2004783, 1592113	Standard	NM_001126		Approved		uc001iaj.3	P30520	OTTHUMG00000040102	ENST00000366535.3:c.546C>T	1.37:g.244587290G>A			242653913	NM_001126		Silent	SNP	ENST00000366535.3	37	CCDS1624.1																																																																																				0.378	ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096697.1	NM_001126	
KIF26B	55083	broad.mit.edu	37	1	245530431	245530431	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:245530431C>T	ENST00000407071.2	+	3	1201	c.761C>T	c.(760-762)aCc>aTc	p.T254I	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	254					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.T254I(2)|p.T54I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CCCTGTGCCACCTCCAACTAC	0.667																																					p.T254I												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C761T	1						.						18.0	24.0	22.0					1																	245530431		1941	4140	6081	243597054	SO:0001583	missense	55083	exon3			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.761C>T	1.37:g.245530431C>T	ENSP00000385545:p.Thr254Ile		243597054	NM_018012	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886499	0.51908	.	.	ENSG00000162849	ENST00000407071	T	0.78126	-1.15	5.57	5.57	0.84162	.	2.029340	0.02280	N	0.069284	T	0.78597	0.4308	L	0.47716	1.5	0.80722	D	1	P;P	0.47409	0.895;0.624	B;B	0.37943	0.261;0.261	T	0.70854	-0.4759	10	0.66056	D	0.02	.	19.5581	0.95361	0.0:1.0:0.0:0.0	.	254;254	B4DF75;Q2KJY2	.;KI26B_HUMAN	I	254	ENSP00000385545:T254I	ENSP00000385545:T254I	T	+	2	0	KIF26B	243597054	0.747000	0.28283	0.994000	0.49952	0.854000	0.48673	2.444000	0.44890	2.614000	0.88457	0.655000	0.94253	ACC		0.667	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354	
TFB2M	64216	broad.mit.edu	37	1	246704495	246704495	+	Silent	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:246704495A>T	ENST00000366514.4	-	8	1214	c.1029T>A	c.(1027-1029)acT>acA	p.T343T		NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	343					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)|transcription cofactor activity (GO:0003712)	p.T343T(1)		breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			CATCAAGTGGAGTCAATGAAC	0.348																																					p.T343T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1029A	1						.						79.0	68.0	72.0					1																	246704495		2202	4300	6502	244771118	SO:0001819	synonymous_variant	64216	exon8			AK026835	CCDS1627.1	1q44	2008-02-05			ENSG00000162851	ENSG00000162851			18559	protein-coding gene	gene with protein product		607055					Standard	NM_022366		Approved	FLJ23182, FLJ22661, Hkp1	uc001ibn.3	Q9H5Q4	OTTHUMG00000040091	ENST00000366514.4:c.1029T>A	1.37:g.246704495A>T			244771118	NM_022366	Q9H626	Silent	SNP	ENST00000366514.4	37	CCDS1627.1																																																																																				0.348	TFB2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096673.1	NM_022366	
OR2L3	391192	broad.mit.edu	37	1	248224423	248224423	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:248224423C>A	ENST00000359959.3	+	1	440	c.440C>A	c.(439-441)tCt>tAt	p.S147Y	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S147Y(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATAACAGGGTCTTGGATCATA	0.428																																					p.S147Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C440A	1						.						206.0	227.0	220.0					1																	248224423		2203	4300	6503	246291046	SO:0001583	missense	391192	exon1			AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.440C>A	1.37:g.248224423C>A	ENSP00000353044:p.Ser147Tyr		246291046	NM_001004687	B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	CCDS31104.1	.	.	.	.	.	.	.	.	.	.	.	13.04	2.118200	0.37339	.	.	ENSG00000198128	ENST00000359959	T	0.39056	1.1	1.91	1.91	0.25777	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31673	U	0.007242	T	0.68026	0.2956	M	0.93978	3.48	0.24644	N	0.993551	D	0.89917	1.0	D	0.78314	0.991	T	0.59616	-0.7421	10	0.87932	D	0	.	9.0058	0.36111	0.0:0.6828:0.3172:0.0	.	147	Q8NG85	OR2L3_HUMAN	Y	147	ENSP00000353044:S147Y	ENSP00000353044:S147Y	S	+	2	0	OR2L3	246291046	0.000000	0.05858	0.579000	0.28588	0.071000	0.16799	-0.017000	0.12590	1.031000	0.39867	0.462000	0.41574	TCT		0.428	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687	
OR2M4	26245	broad.mit.edu	37	1	248402781	248402781	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:248402781T>C	ENST00000306687.1	+	1	551	c.551T>C	c.(550-552)cTt>cCt	p.L184P		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	184					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L184P(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|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;0.0245)			GTTGCTGCCCTTTTACCTCTA	0.408																																					p.L184P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T551C	1						.						141.0	135.0	137.0					1																	248402781		2203	4300	6503	246469404	SO:0001583	missense	26245	exon1			X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.551T>C	1.37:g.248402781T>C	ENSP00000306688:p.Leu184Pro		246469404	NM_017504	Q15611|Q8NG82	Missense_Mutation	SNP	ENST00000306687.1	37	CCDS31108.1	.	.	.	.	.	.	.	.	.	.	t	14.33	2.503065	0.44558	.	.	ENSG00000171180	ENST00000306687	T	0.00235	8.48	3.34	3.34	0.38264	GPCR, rhodopsin-like superfamily (1);	0.590313	0.12339	N	0.477673	T	0.00906	0.0030	H	0.96996	3.92	0.31824	N	0.62561	D	0.89917	1.0	D	0.80764	0.994	T	0.02758	-1.1114	10	0.87932	D	0	.	11.1016	0.48177	0.0:0.0:0.0:1.0	.	184	Q96R27	OR2M4_HUMAN	P	184	ENSP00000306688:L184P	ENSP00000306688:L184P	L	+	2	0	OR2M4	246469404	0.118000	0.22208	0.717000	0.30585	0.981000	0.71138	3.295000	0.51794	1.499000	0.48617	0.443000	0.29094	CTT		0.408	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504	
OR2T33	391195	broad.mit.edu	37	1	248436188	248436188	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:248436188T>G	ENST00000318021.2	-	1	950	c.929A>C	c.(928-930)aAa>aCa	p.K310T		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K310T(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			TTGCTGGTGTTTTATGTTTAC	0.418																																					p.K310T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A929C	1						.						151.0	152.0	152.0					1																	248436188		2203	4300	6503	246502811	SO:0001583	missense	391195	exon1				CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.929A>C	1.37:g.248436188T>G	ENSP00000324687:p.Lys310Thr		246502811	NM_001004695	B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	7.983	0.751590	0.15778	.	.	ENSG00000177212	ENST00000318021	T	0.37915	1.17	1.54	1.54	0.23209	.	2.438080	0.02400	U	0.080507	T	0.22205	0.0535	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.21552	-1.0242	10	0.52906	T	0.07	.	6.8934	0.24243	0.0:0.0:0.0:1.0	.	310	Q8NG76	O2T33_HUMAN	T	310	ENSP00000324687:K310T	ENSP00000324687:K310T	K	-	2	0	OR2T33	246502811	0.000000	0.05858	0.001000	0.08648	0.103000	0.19146	0.130000	0.15850	0.959000	0.37980	0.147000	0.16070	AAA		0.418	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695	
OR2T12	127064	broad.mit.edu	37	1	248458228	248458228	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:248458228A>G	ENST00000317996.1	-	1	652	c.653T>C	c.(652-654)cTc>cCc	p.L218P		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	218						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L218P(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	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;0.0201)			AGCGAGGATGAGACCATAGGA	0.522																																					p.L218P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T653C	1						.						108.0	93.0	98.0					1																	248458228		2203	4297	6500	246524851	SO:0001583	missense	127064	exon1			BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.653T>C	1.37:g.248458228A>G	ENSP00000324583:p.Leu218Pro		246524851	NM_001004692		Missense_Mutation	SNP	ENST00000317996.1	37	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	a	8.783	0.928641	0.18131	.	.	ENSG00000177201	ENST00000317996	T	0.00183	8.6	1.55	-3.09	0.05331	GPCR, rhodopsin-like superfamily (1);	0.698572	0.11234	U	0.585294	T	0.00271	0.0008	L	0.48877	1.53	0.20563	N	0.999886	D	0.89917	1.0	D	0.80764	0.994	T	0.49762	-0.8905	10	0.36615	T	0.2	.	0.2124	0.00158	0.2352:0.173:0.2574:0.3344	.	218	Q8NG77	O2T12_HUMAN	P	218	ENSP00000324583:L218P	ENSP00000324583:L218P	L	-	2	0	OR2T12	246524851	0.000000	0.05858	0.002000	0.10522	0.314000	0.28054	-5.449000	0.00121	-0.469000	0.06911	0.147000	0.16070	CTC		0.522	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692	
CEP104	9731	broad.mit.edu	37	1	3754080	3754080	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:3754080G>A	ENST00000378230.3	-	9	1219	c.895C>T	c.(895-897)Cga>Tga	p.R299*	CEP104_ENST00000460038.1_5'Flank	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	299						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)	p.R299*(1)		breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						AAAGGTCTTCGCATCTAGAGA	0.453																																					p.R299X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C895T	1						.						53.0	58.0	56.0					1																	3754080		2203	4300	6503	3743940	SO:0001587	stop_gained	9731	exon9			AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.895C>T	1.37:g.3754080G>A	ENSP00000367476:p.Arg299*		3743940	NM_014704	Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Nonsense_Mutation	SNP	ENST00000378230.3	37	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	G	37	6.176452	0.97348	.	.	ENSG00000116198	ENST00000378230	.	.	.	5.44	1.19	0.21007	.	0.639794	0.15563	N	0.255851	.	.	.	.	.	.	0.46167	D	0.998909	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	13.3671	0.60692	0.0:0.0:0.4562:0.5438	.	.	.	.	X	299	.	ENSP00000367476:R299X	R	-	1	2	CEP104	3743940	0.993000	0.37304	0.079000	0.20413	0.216000	0.24613	1.558000	0.36309	-0.035000	0.13691	0.555000	0.69702	CGA		0.453	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704	
NPHP4	261734	broad.mit.edu	37	1	5933362	5933362	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:5933362C>T	ENST00000378156.4	-	23	3530	c.3265G>A	c.(3265-3267)Gac>Aac	p.D1089N	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1089					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.D1089N(1)		NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GACACGGCGTCCATGCCCTTC	0.577																																					p.D1089N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3265A	1						.						114.0	121.0	119.0					1																	5933362		2143	4250	6393	5855949	SO:0001583	missense	261734	exon23			AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.3265G>A	1.37:g.5933362C>T	ENSP00000367398:p.Asp1089Asn		5855949	NM_015102	Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.451036	0.43531	.	.	ENSG00000131697	ENST00000378156	T	0.71222	-0.55	4.59	4.59	0.56863	.	0.528228	0.18794	N	0.130982	T	0.65811	0.2727	L	0.53249	1.67	0.09310	N	1	P	0.41848	0.763	B	0.39840	0.311	T	0.60357	-0.7279	10	0.33940	T	0.23	.	13.241	0.59997	0.0:1.0:0.0:0.0	.	1089	O75161	NPHP4_HUMAN	N	1089	ENSP00000367398:D1089N	ENSP00000367398:D1089N	D	-	1	0	NPHP4	5855949	0.021000	0.18746	0.026000	0.17262	0.002000	0.02628	1.637000	0.37155	2.237000	0.73441	0.555000	0.69702	GAC		0.577	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2		
DNAJC11	55735	broad.mit.edu	37	1	6740975	6740975	+	Silent	SNP	A	A	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:6740975A>C	ENST00000377577.5	-	2	318	c.195T>G	c.(193-195)gcT>gcG	p.A65A	DNAJC11_ENST00000294401.7_Silent_p.A65A|DNAJC11_ENST00000542246.1_Silent_p.A27A|DNAJC11_ENST00000377573.5_5'UTR|DNAJC11_ENST00000349363.6_Silent_p.A27A	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	65	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)		p.A65A(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		GACCTTCATAAGCCTGGTGAA	0.488																																					p.A65A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T195G	1						.						162.0	148.0	153.0					1																	6740975		2203	4300	6503	6663562	SO:0001819	synonymous_variant	55735	exon2			AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.195T>G	1.37:g.6740975A>C			6663562	NM_018198	Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Silent	SNP	ENST00000377577.5	37	CCDS87.1																																																																																				0.488	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198	
TNFRSF9	3604	broad.mit.edu	37	1	7999986	7999986	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:7999986T>C	ENST00000377507.3	-	2	235	c.69A>G	c.(67-69)tcA>tcG	p.S23S		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	23					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.S23S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		GATCCTGCAATGATCTTGTCC	0.443																																					p.S23S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A69G	1						.						134.0	113.0	120.0					1																	7999986		2203	4300	6503	7922573	SO:0001819	synonymous_variant	3604	exon3			L12964	CCDS92.1	1p36	2008-02-05			ENSG00000049249	ENSG00000049249		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11924	protein-coding gene	gene with protein product		602250		ILA		8262389, 8639902	Standard	NM_001561		Approved	CD137, 4-1BB	uc001aot.3	Q07011	OTTHUMG00000001223	ENST00000377507.3:c.69A>G	1.37:g.7999986T>C			7922573	NM_001561		Silent	SNP	ENST00000377507.3	37	CCDS92.1																																																																																				0.443	TNFRSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003622.1		
SRRM1	10250	broad.mit.edu	37	1	24975463	24975463	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:24975463C>T	ENST00000323848.9	+	4	663	c.348C>T	c.(346-348)atC>atT	p.I116I	SRRM1_ENST00000374389.4_Silent_p.I116I|SRRM1_ENST00000447431.2_Silent_p.I116I|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000537199.1_Silent_p.I15I	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	116	Necessary for DNA and RNA-binding.|Necessary for mRNA 3'-end cleavage and cytoplasmic accumulation.|PWI. {ECO:0000255|PROSITE- ProRule:PRU00627}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.I116I(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		AAGAAAACATCGCGGGAATCC	0.383																																					p.I116I	Ovarian(68;897 1494 3282 17478)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C348T	1						.						129.0	139.0	135.0					1																	24975463		2203	4300	6503	24848050	SO:0001819	synonymous_variant	10250	exon4			AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.348C>T	1.37:g.24975463C>T			24848050	NM_005839	O60585|Q5VVN4	Silent	SNP	ENST00000323848.9	37	CCDS255.1																																																																																				0.383	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839	
TMEM57	55219	broad.mit.edu	37	1	25785017	25785017	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:25785017C>T	ENST00000374343.4	+	6	967	c.788C>T	c.(787-789)gCc>gTc	p.A263V	TMEM57_ENST00000399766.3_Intron|TMEM57_ENST00000399763.3_Intron|TMEM57_ENST00000470035.1_3'UTR	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	263					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)		p.A263V(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		GACAAGGATGCCAAAAAACAC	0.353																																					p.A263V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C788T	1						.						118.0	121.0	120.0					1																	25785017		2203	4300	6503	25657604	SO:0001583	missense	55219	exon6			AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.788C>T	1.37:g.25785017C>T	ENSP00000363463:p.Ala263Val		25657604	NM_018202	B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Missense_Mutation	SNP	ENST00000374343.4	37	CCDS30638.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.299841	0.40694	.	.	ENSG00000204178	ENST00000374343	.	.	.	5.78	5.78	0.91487	.	0.199869	0.53938	D	0.000051	T	0.34454	0.0898	N	0.04508	-0.205	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.19160	-1.0314	9	0.29301	T	0.29	-7.8256	12.3263	0.55013	0.0:0.9236:0.0:0.0763	.	263	Q8N5G2	MACOI_HUMAN	V	263	.	ENSP00000363463:A263V	A	+	2	0	TMEM57	25657604	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.876000	0.48498	2.724000	0.93272	0.563000	0.77884	GCC		0.353	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2	NM_018202	
MAN1C1	57134	broad.mit.edu	37	1	26090432	26090432	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:26090432G>T	ENST00000374332.4	+	7	1445	c.1115G>T	c.(1114-1116)aGc>aTc	p.S372I	MAN1C1_ENST00000263979.3_Missense_Mutation_p.S192I|MAN1C1_ENST00000374329.1_Missense_Mutation_p.S143I	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	372					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.S372I(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		AACTTCCTCAGCCCAGTGAGT	0.592																																					p.S372I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1115T	1						.						124.0	109.0	114.0					1																	26090432		2203	4300	6503	25963019	SO:0001583	missense	57134	exon7			AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.1115G>T	1.37:g.26090432G>T	ENSP00000363452:p.Ser372Ile		25963019	NM_020379	A6NNE2|B2RNP2|Q9Y545	Missense_Mutation	SNP	ENST00000374332.4	37	CCDS265.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727736	0.69074	.	.	ENSG00000117643	ENST00000374332;ENST00000374331;ENST00000263979;ENST00000374329	T;T;T	0.72615	-0.67;-0.67;-0.67	5.45	5.45	0.79879	.	0.038573	0.85682	N	0.000000	T	0.80742	0.4681	M	0.93197	3.39	0.43160	D	0.994946	B	0.30146	0.27	B	0.32724	0.151	T	0.83326	-0.0015	10	0.72032	D	0.01	.	18.1094	0.89530	0.0:0.0:1.0:0.0	.	372	Q9NR34	MA1C1_HUMAN	I	372;192;192;143	ENSP00000363452:S372I;ENSP00000263979:S192I;ENSP00000363449:S143I	ENSP00000263979:S192I	S	+	2	0	MAN1C1	25963019	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.290000	0.72712	2.564000	0.86499	0.499000	0.49734	AGC		0.592	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012828.3	NM_020379	
SEPN1	57190	broad.mit.edu	37	1	26142147	26142147	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:26142147G>A	ENST00000374315.1	+	12	1647	c.1609G>A	c.(1609-1611)Gcc>Acc	p.A537T	SEPN1_ENST00000354177.4_Missense_Mutation_p.A537T|RP1-317E23.6_ENST00000527604.1_Intron|SEPN1_ENST00000361547.2_Missense_Mutation_p.A571T|SEPN1_ENST00000494537.1_3'UTR|RP1-317E23.3_ENST00000442055.1_RNA	NM_206926.1	NP_996809.1	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	571						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.A571T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		CCCGTCCACGGCCACCTACAT	0.592																																					p.A571T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1711A	1						.						159.0	164.0	162.0					1																	26142147		2054	4181	6235	26014734	SO:0001583	missense	57190	exon13			AF166125	CCDS41282.1, CCDS41283.1	1p36.13	2014-09-17	2004-02-13		ENSG00000162430	ENSG00000162430		"""EF-hand domain containing"""	15999	protein-coding gene	gene with protein product		606210	"""rigid spine muscular dystrophy 1"""	RSMD1, MDRS1		10608886	Standard	NM_020451		Approved	selN, RSS	uc021ojl.1	Q9NZV5	OTTHUMG00000007375	ENST00000374315.1:c.1609G>A	1.37:g.26142147G>A	ENSP00000363434:p.Ala537Thr		26014734	NM_020451	A6NJG8|A8MQ64|Q6PI70|Q969F6|Q9NUI6	Missense_Mutation	SNP	ENST00000374315.1	37	CCDS41283.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.639221	0.67244	.	.	ENSG00000162430	ENST00000361547;ENST00000354177;ENST00000374315	D;D;D	0.87966	-2.31;-2.32;-2.32	4.76	1.76	0.24704	.	0.264193	0.38778	N	0.001565	T	0.72859	0.3513	N	0.08118	0	0.35819	D	0.824434	B;B	0.14438	0.004;0.01	B;B	0.14578	0.011;0.007	T	0.70029	-0.4984	10	0.62326	D	0.03	-16.5744	10.326	0.43793	0.2301:0.0:0.7699:0.0	.	537;571	Q9NZV5-2;Q9NZV5	.;SELN_HUMAN	T	571;537;537	ENSP00000355141:A571T;ENSP00000346109:A537T;ENSP00000363434:A537T	ENSP00000346109:A537T	A	+	1	0	SEPN1	26014734	0.999000	0.42202	0.905000	0.35620	0.952000	0.60782	2.962000	0.49176	0.534000	0.28695	0.561000	0.74099	GCC		0.592	SEPN1-002	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000019315.2	NM_020451	
THEMIS2	9473	broad.mit.edu	37	1	28209387	28209387	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:28209387T>A	ENST00000373921.3	+	4	1556	c.1552T>A	c.(1552-1554)Ttg>Atg	p.L518M	THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000328928.7_Missense_Mutation_p.L389M|THEMIS2_ENST00000373925.1_Intron	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	518					cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L518M(1)									GCAGCCAGACTTGCCAGAGGG	0.577																																					p.L518M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1552A	1						.						102.0	98.0	99.0					1																	28209387		2033	4166	6199	28081974	SO:0001583	missense	9473	exon4			AF044896	CCDS30653.1, CCDS30654.1, CCDS41290.1, CCDS65461.1	1p35.2	2012-07-10	2012-07-10	2012-07-10	ENSG00000130775	ENSG00000130775			16839	protein-coding gene	gene with protein product	"""induced by contact to basement membrane 1"""		"""chromosome 1 open reading frame 38"""	C1orf38		16219472	Standard	XM_005246041		Approved	ICB-1, Icb-1	uc001bpc.4	Q5TEJ8	OTTHUMG00000003735	ENST00000373921.3:c.1552T>A	1.37:g.28209387T>A	ENSP00000363031:p.Leu518Met		28081974	NM_001105556	A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Missense_Mutation	SNP	ENST00000373921.3	37	CCDS41290.1	.	.	.	.	.	.	.	.	.	.	T	12.06	1.823535	0.32237	.	.	ENSG00000130775	ENST00000328928;ENST00000373921	T;T	0.15603	2.41;2.41	4.98	-0.666	0.11399	.	1.146220	0.06037	N	0.654223	T	0.08088	0.0202	N	0.08118	0	0.09310	N	1	B;B;B	0.25955	0.106;0.106;0.138	B;B;B	0.20184	0.015;0.009;0.028	T	0.35500	-0.9786	10	0.38643	T	0.18	-3.9198	5.2424	0.15479	0.1385:0.5379:0.0:0.3236	.	389;322;518	Q5TEJ8-5;Q5TEJ8-6;Q5TEJ8	.;.;THMS2_HUMAN	M	389;518	ENSP00000329862:L389M;ENSP00000363031:L518M	ENSP00000329862:L389M	L	+	1	2	C1orf38	28081974	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.203000	0.17315	0.201000	0.20466	-0.421000	0.06004	TTG		0.577	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011148.1	NM_004848	
RCC1	1104	broad.mit.edu	37	1	28863279	28863279	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:28863279C>T	ENST00000373833.6	+	12	1243	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W	RCC1_ENST00000373831.3_Missense_Mutation_p.R351W|RCC1_ENST00000373832.1_Missense_Mutation_p.R320W|RCC1_ENST00000398958.2_Missense_Mutation_p.R320W			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	320					chromosome segregation (GO:0007059)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of Ran GTPase activity (GO:0032853)|regulation of mitosis (GO:0007088)|spindle assembly (GO:0051225)|viral process (GO:0016032)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosomal DNA binding (GO:0031492)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.R320W(1)		breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCCTGGGCCGGGCTGAGTA	0.607																																					p.R320W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C958T	1						.						87.0	89.0	89.0					1																	28863279		2203	4300	6503	28735866	SO:0001583	missense	1104	exon9			X12654	CCDS323.1, CCDS41295.1	1p35.3	2008-08-18	2005-05-09	2005-05-09	ENSG00000180198	ENSG00000180198			1913	protein-coding gene	gene with protein product		179710	"""chromosome condensation 1"""	CHC1		7851910	Standard	NM_001048199		Approved		uc001bqf.2	P18754	OTTHUMG00000003645	ENST00000373833.6:c.958C>T	1.37:g.28863279C>T	ENSP00000362939:p.Arg320Trp		28735866	NM_001269	Q16269|Q6NT97	Missense_Mutation	SNP	ENST00000373833.6	37	CCDS323.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989825	0.74589	.	.	ENSG00000180198	ENST00000398958;ENST00000373833;ENST00000373832;ENST00000373831;ENST00000411533	D;D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11;-2.11	5.8	4.81	0.61882	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.92603	0.7650	M	0.72576	2.205	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.995;0.996;0.994	D	0.93062	0.6475	10	0.87932	D	0	-14.2692	15.5114	0.75786	0.173:0.827:0.0:0.0	.	351;337;320	P18754-2;E9PAT9;P18754	.;.;RCC1_HUMAN	W	320;320;320;351;337	ENSP00000381931:R320W;ENSP00000362939:R320W;ENSP00000362938:R320W;ENSP00000362937:R351W;ENSP00000413644:R337W	ENSP00000362937:R351W	R	+	1	2	RCC1	28735866	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.540000	0.36115	2.741000	0.93983	0.655000	0.94253	CGG		0.607	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010323.3	NM_001269	
EPB41	2035	broad.mit.edu	37	1	29385105	29385105	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:29385105A>G	ENST00000343067.4	+	13	1977	c.1850A>G	c.(1849-1851)gAa>gGa	p.E617G	EPB41_ENST00000349460.4_Missense_Mutation_p.E408G|EPB41_ENST00000347529.3_Intron|EPB41_ENST00000398863.2_Intron|EPB41_ENST00000356093.2_Intron|EPB41_ENST00000373798.1_Missense_Mutation_p.E617G|EPB41_ENST00000373797.1_Missense_Mutation_p.E617G|EPB41_ENST00000373800.3_Intron	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	617	Spectrin--actin-binding.				actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.E408G(1)|p.E617G(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		ATGTAGGTGGAAAAAACCCAC	0.408																																					p.E408G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1223G	1						.						82.0	79.0	80.0					1																	29385105		2203	4300	6503	29257692	SO:0001583	missense	2035	exon14			BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"""elliptocytosis 1, RH-linked"""	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.1850A>G	1.37:g.29385105A>G	ENSP00000345259:p.Glu617Gly		29257692	NM_203342	B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Missense_Mutation	SNP	ENST00000343067.4	37	CCDS53288.1	.	.	.	.	.	.	.	.	.	.	A	12.16	1.856038	0.32791	.	.	ENSG00000159023	ENST00000343067;ENST00000398865;ENST00000349460;ENST00000373798;ENST00000373797	D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.86	5.63	5.63	0.86233	.	0.441099	0.23477	N	0.047756	T	0.72220	0.3433	N	0.22421	0.69	0.80722	D	1	B;B;B	0.29805	0.146;0.257;0.001	B;B;B	0.27887	0.084;0.074;0.002	T	0.67393	-0.5682	10	0.18710	T	0.47	.	7.8976	0.29715	0.9048:0.0:0.0952:0.0	.	617;617;408	P11171;P11171-7;P11171-3	41_HUMAN;.;.	G	617;617;408;617;617	ENSP00000345259:E617G;ENSP00000317597:E408G;ENSP00000362904:E617G;ENSP00000362903:E617G	ENSP00000345259:E617G	E	+	2	0	EPB41	29257692	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.435000	0.44811	2.137000	0.66172	0.460000	0.39030	GAA		0.408	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1	NM_203342	
EPB41	2035	broad.mit.edu	37	1	29424377	29424377	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:29424377G>A	ENST00000343067.4	+	17	2370	c.2243G>A	c.(2242-2244)aGt>aAt	p.S748N	EPB41_ENST00000460378.1_3'UTR|EPB41_ENST00000349460.4_Missense_Mutation_p.S525N|EPB41_ENST00000347529.3_Missense_Mutation_p.S659N|EPB41_ENST00000398863.2_Intron|EPB41_ENST00000356093.2_Missense_Mutation_p.S715N|EPB41_ENST00000373798.1_Missense_Mutation_p.S748N|EPB41_ENST00000373800.3_Missense_Mutation_p.S506N	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	748	C-terminal (CTD).				actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.S748N(1)|p.S525N(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		GCTGTGAAAAGTGAAATCCCA	0.453																																					p.S525N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1574A	1						.						148.0	120.0	130.0					1																	29424377		2203	4300	6503	29296964	SO:0001583	missense	2035	exon17			BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"""elliptocytosis 1, RH-linked"""	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.2243G>A	1.37:g.29424377G>A	ENSP00000345259:p.Ser748Asn		29296964	NM_203342	B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Missense_Mutation	SNP	ENST00000343067.4	37	CCDS53288.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452443	0.63290	.	.	ENSG00000159023	ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398861;ENST00000349460;ENST00000373800;ENST00000347529;ENST00000373798	T;T;T;D;T;T	0.84516	-1.04;-1.04;-1.04;-1.86;-1.04;-1.04	5.85	4.88	0.63580	Band 4.1, C-terminal (1);	0.433959	0.28665	N	0.014550	D	0.88548	0.6466	L	0.44542	1.39	0.80722	D	1	P;P;P;P;P;D;P	0.63046	0.899;0.853;0.913;0.929;0.855;0.992;0.692	P;P;P;D;P;D;B	0.68943	0.602;0.568;0.864;0.917;0.709;0.961;0.32	D	0.86677	0.1914	10	0.35671	T	0.21	.	15.5635	0.76269	0.0:0.1378:0.8622:0.0	.	588;748;715;711;659;506;525	E9PEX0;P11171;P11171-2;Q59F12;P11171-5;P11171-4;P11171-3	.;41_HUMAN;.;.;.;.;.	N	711;748;715;588;525;506;659;748	ENSP00000345259:S748N;ENSP00000348397:S715N;ENSP00000317597:S525N;ENSP00000362906:S506N;ENSP00000290100:S659N;ENSP00000362904:S748N	ENSP00000345259:S748N	S	+	2	0	EPB41	29296964	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.398000	0.59697	2.753000	0.94483	0.655000	0.94253	AGT		0.453	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1	NM_203342	
PTPRU	10076	broad.mit.edu	37	1	29630524	29630524	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:29630524G>A	ENST00000345512.3	+	17	2793	c.2664G>A	c.(2662-2664)acG>acA	p.T888T	PTPRU_ENST00000428026.2_Silent_p.T878T|PTPRU_ENST00000356870.3_Silent_p.T878T|PTPRU_ENST00000460170.2_Silent_p.T878T|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000323874.8_Silent_p.T878T|PTPRU_ENST00000373779.3_Silent_p.T878T	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	888	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.T888T(1)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		AGATGAAGACGGCCGAGGGTT	0.652																																					p.T888T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2664A	1						.						49.0	50.0	50.0					1																	29630524		2203	4300	6503	29503111	SO:0001819	synonymous_variant	10076	exon17			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.2664G>A	1.37:g.29630524G>A			29503111	NM_005704	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Silent	SNP	ENST00000345512.3	37	CCDS334.1																																																																																				0.652	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1		
BAI2	576	broad.mit.edu	37	1	32207466	32207466	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:32207466G>A	ENST00000373658.3	-	9	1861	c.1520C>T	c.(1519-1521)aCg>aTg	p.T507M	BAI2_ENST00000398556.3_Missense_Mutation_p.T455M|BAI2_ENST00000398542.1_Missense_Mutation_p.T440M|BAI2_ENST00000398538.1_Missense_Mutation_p.T495M|BAI2_ENST00000257070.4_Missense_Mutation_p.T507M|BAI2_ENST00000527361.1_Missense_Mutation_p.T507M|BAI2_ENST00000398547.1_Missense_Mutation_p.T440M|BAI2_ENST00000440175.2_Missense_Mutation_p.T149M|BAI2_ENST00000373655.2_Missense_Mutation_p.T507M	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	507	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T507M(1)		breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GTAGCCCTGCGTGCCCGTGGC	0.647																																					p.T507M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1520T	1						.						67.0	72.0	70.0					1																	32207466		2203	4299	6502	31980053	SO:0001583	missense	576	exon9			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.1520C>T	1.37:g.32207466G>A	ENSP00000362762:p.Thr507Met		31980053	NM_001703	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	CCDS346.2	.	.	.	.	.	.	.	.	.	.	G	12.58	1.980582	0.34942	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65	4.95	3.79	0.43588	.	0.858176	0.09722	N	0.764283	T	0.33962	0.0881	N	0.16368	0.405	0.09310	N	1	B;B;B;P;B;P;B	0.36837	0.344;0.295;0.295;0.571;0.344;0.473;0.344	B;B;B;B;B;B;B	0.41917	0.263;0.171;0.171;0.37;0.263;0.171;0.263	T	0.18178	-1.0345	10	0.52906	T	0.07	.	4.402	0.11392	0.3137:0.0:0.6863:0.0	.	440;507;495;149;440;507;507	A2A3C3;O60241-4;O60241-3;B4DKC3;A2A3C1;O60241-2;O60241	.;.;.;.;.;.;BAI2_HUMAN	M	455;440;507;507;440;507;507;149;495;445;486	ENSP00000381564:T455M;ENSP00000381555:T440M;ENSP00000362762:T507M;ENSP00000362759:T507M;ENSP00000381550:T440M;ENSP00000257070:T507M;ENSP00000435397:T507M;ENSP00000391071:T149M;ENSP00000381548:T495M;ENSP00000410921:T445M;ENSP00000437219:T486M	ENSP00000257070:T507M	T	-	2	0	BAI2	31980053	0.158000	0.22850	0.058000	0.19502	0.925000	0.55904	3.610000	0.54125	2.457000	0.83068	0.561000	0.74099	ACG		0.647	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703	
KHDRBS1	10657	broad.mit.edu	37	1	32503636	32503636	+	Splice_Site	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:32503636A>G	ENST00000327300.7	+	6	1273	c.1106A>G	c.(1105-1107)tAt>tGt	p.Y369C	KHDRBS1_ENST00000307714.8_3'UTR|KHDRBS1_ENST00000492989.1_Splice_Site_p.Y330C	NM_006559.1	NP_006550.1			KH domain containing, RNA binding, signal transduction associated 1									p.Y369C(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TATGAAGAATATGTAAGAAAT	0.498																																					p.Y369C	Ovarian(173;401 1982 12359 31110 42403)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1106G	1						.						52.0	53.0	53.0					1																	32503636		2203	4300	6503	32276223	SO:0001630	splice_region_variant	10657	exon6			U78971	CCDS350.1, CCDS60067.1	1p32	2008-07-18			ENSG00000121774	ENSG00000121774			18116	protein-coding gene	gene with protein product	"""GAP-associated tyrosine phosphoprotein p62 (Sam68)"""	602489				1374686, 10564820	Standard	NM_006559		Approved	Sam68, p62, FLJ34027	uc001bub.4	Q07666	OTTHUMG00000003921	ENST00000327300.7:c.1107+1A>G	1.37:g.32503636A>G			32276223	NM_006559		Missense_Mutation	SNP	ENST00000327300.7	37	CCDS350.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.202378	0.79127	.	.	ENSG00000121774	ENST00000327300;ENST00000492989;ENST00000355201	T;T	0.55760	0.5;0.51	5.84	5.84	0.93424	.	0.061423	0.64402	D	0.000002	T	0.66137	0.2759	M	0.80183	2.485	0.80722	D	1	P;P	0.49447	0.876;0.924	B;P	0.49752	0.322;0.621	T	0.72090	-0.4395	10	0.87932	D	0	.	16.193	0.82005	1.0:0.0:0.0:0.0	.	369;330	Q07666;Q07666-3	KHDR1_HUMAN;.	C	369;330;345	ENSP00000313829:Y369C;ENSP00000417731:Y330C	ENSP00000313829:Y369C	Y	+	2	0	KHDRBS1	32276223	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.091000	0.89528	2.367000	0.80283	0.528000	0.53228	TAT		0.498	KHDRBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011199.4	NM_006559	Missense_Mutation
TXLNA	200081	broad.mit.edu	37	1	32655783	32655783	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:32655783G>A	ENST00000373609.1	+	5	1177	c.896G>A	c.(895-897)cGc>cAc	p.R299H	TXLNA_ENST00000373610.3_Missense_Mutation_p.R299H			P40222	TXLNA_HUMAN	taxilin alpha	299					B cell activation (GO:0042113)|cell proliferation (GO:0008283)|exocytosis (GO:0006887)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	cytokine activity (GO:0005125)|high molecular weight B cell growth factor receptor binding (GO:0030372)	p.R299H(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TCCAAGCTGCGCCAAGAGAAC	0.557																																					p.R299H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G896A	1						.						80.0	66.0	71.0					1																	32655783		2203	4300	6503	32428370	SO:0001583	missense	200081	exon6			AF516206	CCDS353.1	1p35	2012-02-21			ENSG00000084652	ENSG00000084652			30685	protein-coding gene	gene with protein product		608676				15184072, 14623251	Standard	NM_175852		Approved	DKFZp451J0118	uc001bui.3	P40222	OTTHUMG00000004423	ENST00000373609.1:c.896G>A	1.37:g.32655783G>A	ENSP00000362711:p.Arg299His		32428370	NM_175852	D3DPP6|Q5TFJ6|Q66K62|Q86T54|Q86T85|Q86T86|Q86Y86|Q86YW3|Q8N2Y3	Missense_Mutation	SNP	ENST00000373609.1	37	CCDS353.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422265	0.83559	.	.	ENSG00000084652	ENST00000373610;ENST00000373609	T;T	0.31247	1.5;1.5	4.85	3.91	0.45181	.	0.000000	0.85682	D	0.000000	T	0.51618	0.1685	M	0.77313	2.365	0.58432	D	0.999999	D	0.89917	1.0	D	0.75020	0.985	T	0.48875	-0.8996	10	0.15066	T	0.55	-11.9649	14.1027	0.65068	0.0776:0.0:0.9224:0.0	.	299	P40222	TXLNA_HUMAN	H	299	ENSP00000362712:R299H;ENSP00000362711:R299H	ENSP00000362711:R299H	R	+	2	0	TXLNA	32428370	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.809000	0.75211	2.412000	0.81896	0.650000	0.86243	CGC		0.557	TXLNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012844.1	NM_175852	
TXLNA	200081	broad.mit.edu	37	1	32660718	32660718	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:32660718G>A	ENST00000373609.1	+	10	1844	c.1563G>A	c.(1561-1563)gcG>gcA	p.A521A	TXLNA_ENST00000373610.3_Silent_p.A521A			P40222	TXLNA_HUMAN	taxilin alpha	521					B cell activation (GO:0042113)|cell proliferation (GO:0008283)|exocytosis (GO:0006887)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	cytokine activity (GO:0005125)|high molecular weight B cell growth factor receptor binding (GO:0030372)	p.A521A(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TCACAGAAGCGCCTTGCTACC	0.662																																					p.A521A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1563A	1						.						34.0	36.0	35.0					1																	32660718		2203	4300	6503	32433305	SO:0001819	synonymous_variant	200081	exon11			AF516206	CCDS353.1	1p35	2012-02-21			ENSG00000084652	ENSG00000084652			30685	protein-coding gene	gene with protein product		608676				15184072, 14623251	Standard	NM_175852		Approved	DKFZp451J0118	uc001bui.3	P40222	OTTHUMG00000004423	ENST00000373609.1:c.1563G>A	1.37:g.32660718G>A			32433305	NM_175852	D3DPP6|Q5TFJ6|Q66K62|Q86T54|Q86T85|Q86T86|Q86Y86|Q86YW3|Q8N2Y3	Silent	SNP	ENST00000373609.1	37	CCDS353.1																																																																																				0.662	TXLNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012844.1	NM_175852	
TSSK3	81629	broad.mit.edu	37	1	32829220	32829220	+	Missense_Mutation	SNP	G	G	A	rs146574652		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:32829220G>A	ENST00000373534.3	+	2	675	c.170G>A	c.(169-171)cGg>cAg	p.R57Q	FAM229A_ENST00000415596.1_Intron|FAM229A_ENST00000432622.1_5'Flank	NM_052841.3	NP_443073.1	Q96PN8	TSSK3_HUMAN	testis-specific serine kinase 3	57	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.R57Q(1)		NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)				TTCCTCCCTCGGGAGCTCCAA	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		18459	0.0		0.0	False		,,,				2504	0.001				p.R57Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G170A	1						.	G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	56.0	61.0	59.0		170	5.4	1.0	1	dbSNP_134	59	0,8600		0,0,4300	no	missense	TSSK3	NM_052841.3	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	57/269	32829220	1,13005	2203	4300	6503	32601807	SO:0001583	missense	81629	exon2			AF296450	CCDS362.1	1p35-p34	2008-02-05	2005-03-10	2005-03-12	ENSG00000162526	ENSG00000162526			15473	protein-coding gene	gene with protein product		607660	"""serine/threonine kinase 22C (spermiogenesis associated)"""	STK22C		11597141	Standard	NM_052841		Approved	SPOGA3	uc001bvf.3	Q96PN8	OTTHUMG00000007585	ENST00000373534.3:c.170G>A	1.37:g.32829220G>A	ENSP00000362634:p.Arg57Gln		32601807	NM_052841	Q5TEE5	Missense_Mutation	SNP	ENST00000373534.3	37	CCDS362.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933175	0.73442	2.27E-4	0.0	ENSG00000162526	ENST00000373534	T	0.27890	1.64	5.42	5.42	0.78866	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	0.64402	D	0.000018	T	0.53948	0.1828	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.54483	-0.8287	10	0.87932	D	0	.	16.3232	0.82961	0.0:0.0:1.0:0.0	.	57	Q96PN8	TSSK3_HUMAN	Q	57	ENSP00000362634:R57Q	ENSP00000362634:R57Q	R	+	2	0	TSSK3	32601807	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.599000	0.54045	2.721000	0.93114	0.655000	0.94253	CGG		0.557	TSSK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020049.1		
S100PBP	64766	broad.mit.edu	37	1	33321592	33321592	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:33321592C>T	ENST00000373475.5	+	7	1434	c.1180C>T	c.(1180-1182)Cga>Tga	p.R394*	S100PBP_ENST00000373476.1_Nonsense_Mutation_p.R394*	NM_022753.3	NP_073590.2			S100P binding protein									p.R394*(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CAGGAACATGCGAAGCCACCA	0.517																																					p.R394X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1180T	1						.						123.0	111.0	115.0					1																	33321592		2203	4300	6503	33094179	SO:0001587	stop_gained	64766	exon7			BX647916	CCDS30666.1	1p35.1	2008-02-05			ENSG00000116497	ENSG00000116497			25768	protein-coding gene	gene with protein product	"""S100P binding protein 1"""	611889				12477932	Standard	NM_022753		Approved	FLJ12903, S100PBPR	uc001bwc.4	Q96BU1	OTTHUMG00000003955	ENST00000373475.5:c.1180C>T	1.37:g.33321592C>T	ENSP00000362574:p.Arg394*		33094179	NM_022753		Nonsense_Mutation	SNP	ENST00000373475.5	37	CCDS30666.1	.	.	.	.	.	.	.	.	.	.	C	36	5.803282	0.96960	.	.	ENSG00000116497	ENST00000373476;ENST00000373475	.	.	.	4.79	3.87	0.44632	.	0.196840	0.33253	N	0.005120	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.0812	10.8231	0.46617	0.0:0.7782:0.2218:0.0	.	.	.	.	X	394	.	ENSP00000362574:R394X	R	+	1	2	S100PBP	33094179	0.899000	0.30636	0.990000	0.47175	0.998000	0.95712	0.237000	0.17985	1.617000	0.50277	0.655000	0.94253	CGA		0.517	S100PBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011266.1	NM_022753	
PHC2	1912	broad.mit.edu	37	1	33832776	33832776	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:33832776C>T	ENST00000257118.5	-	6	970	c.917G>A	c.(916-918)gGc>gAc	p.G306D	PHC2_ENST00000419414.2_Missense_Mutation_p.G306D|PHC2_ENST00000373416.1_5'UTR|PHC2_ENST00000431992.1_Missense_Mutation_p.G277D	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	306					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G306D(1)		autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCCAGCCCGGCCTTCCATGCT	0.597																																					p.G306D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G917A	1						.						78.0	77.0	77.0					1																	33832776		2203	4300	6503	33605363	SO:0001583	missense	1912	exon6			AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.917G>A	1.37:g.33832776C>T	ENSP00000257118:p.Gly306Asp		33605363	NM_198040	A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	ENST00000257118.5	37	CCDS378.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.597660	0.46318	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000419414	T;T;T	0.30714	1.97;1.52;1.93	5.75	4.84	0.62591	.	0.494884	0.22932	N	0.053895	T	0.25606	0.0623	L	0.50333	1.59	0.80722	D	1	B;P;B	0.38250	0.257;0.624;0.437	B;B;B	0.34590	0.049;0.186;0.073	T	0.03212	-1.1060	10	0.11794	T	0.64	-1.2869	13.0178	0.58768	0.0:0.8389:0.1611:0.0	.	306;277;306	A8KA40;B7ZLY0;Q8IXK0	.;.;PHC2_HUMAN	D	277;306;306	ENSP00000389436:G277D;ENSP00000257118:G306D;ENSP00000391440:G306D	ENSP00000257118:G306D	G	-	2	0	PHC2	33605363	0.999000	0.42202	1.000000	0.80357	0.970000	0.65996	1.533000	0.36040	1.407000	0.46875	0.563000	0.77884	GGC		0.597	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040	
CSMD2	114784	broad.mit.edu	37	1	34181994	34181994	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:34181994G>A	ENST00000373381.4	-	20	3285	c.3109C>T	c.(3109-3111)Cgg>Tgg	p.R1037W		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	997	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R997W(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCTGGCAGCCGAGATCCAGTT	0.542																																					p.R997W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2989T	1						.						60.0	62.0	61.0					1																	34181994		2203	4300	6503	33954581	SO:0001583	missense	114784	exon20			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.3109C>T	1.37:g.34181994G>A	ENSP00000362479:p.Arg1037Trp		33954581	NM_052896	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37		.	.	.	.	.	.	.	.	.	.	G	20.6	4.015528	0.75161	.	.	ENSG00000121904	ENST00000373381	T	0.18657	2.2	5.58	3.62	0.41486	CUB (5);	0.073660	0.56097	D	0.000034	T	0.31638	0.0803	L	0.45228	1.405	0.80722	D	1	D;D	0.60160	0.987;0.967	P;P	0.57468	0.67;0.821	T	0.02313	-1.1178	10	0.66056	D	0.02	.	12.5553	0.56250	0.0:0.0:0.4817:0.5182	.	997;1037	Q7Z408;E7EUA6	CSMD2_HUMAN;.	W	1037	ENSP00000362479:R1037W	ENSP00000241312:R997W	R	-	1	2	CSMD2	33954581	0.002000	0.14202	0.811000	0.32455	0.905000	0.53344	0.531000	0.23052	0.616000	0.30141	0.555000	0.69702	CGG		0.542	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896	
MACF1	23499	broad.mit.edu	37	1	39823379	39823379	+	Silent	SNP	G	G	A	rs374553228		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:39823379G>A	ENST00000372915.3	+	44	11859	c.11772G>A	c.(11770-11772)cgG>cgA	p.R3924R	MACF1_ENST00000539005.1_Silent_p.R1857R|MACF1_ENST00000361689.2_Silent_p.R1857R|MACF1_ENST00000289893.4_Silent_p.R2359R|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000545844.1_Silent_p.R1857R|MACF1_ENST00000317713.7_Silent_p.R1857R|MACF1_ENST00000564288.1_Silent_p.R3919R|MACF1_ENST00000567887.1_Silent_p.R3956R			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3924					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.R1857R(1)|p.R2359R(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGCTAAAGCGGCAAGGAAGCT	0.478																																					p.R1857R												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G5571A	1						.						72.0	74.0	74.0					1																	39823379		2203	4300	6503	39595966	SO:0001819	synonymous_variant	23499	exon41			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.11772G>A	1.37:g.39823379G>A			39595966	NM_012090	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	G	9.163	1.019278	0.19355	.	.	ENSG00000127603	ENST00000372925	.	.	.	6.07	-2.73	0.05950	.	.	.	.	.	T	0.47967	0.1474	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43442	-0.9391	4	.	.	.	.	5.2009	0.15264	0.1757:0.3399:0.3973:0.0871	.	.	.	.	T	991	.	.	A	+	1	0	MACF1	39595966	0.181000	0.23161	0.963000	0.40424	0.915000	0.54546	-0.362000	0.07602	-0.094000	0.12374	0.655000	0.94253	GCA		0.478	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
OXCT2	64064	broad.mit.edu	37	1	40236245	40236245	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:40236245C>T	ENST00000327582.5	-	1	775	c.683G>A	c.(682-684)cGc>cAc	p.R228H	BMP8B_ENST00000372827.3_Intron|BMP8B_ENST00000397360.2_Intron	NM_022120.1	NP_071403.1	Q9BYC2	SCOT2_HUMAN	3-oxoacid CoA transferase 2	228					ketone body catabolic process (GO:0046952)	mitochondrion (GO:0005739)|motile cilium (GO:0031514)	3-oxoacid CoA-transferase activity (GO:0008260)	p.R228H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	GTTGAAATTGCGGGCGCTTCT	0.612											OREG0013400	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R228H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G683A	1						.						36.0	42.0	40.0					1																	40236245		2193	4292	6485	40008832	SO:0001583	missense	64064	exon1			AB050193	CCDS445.1	1p34	2008-02-05			ENSG00000198754	ENSG00000198754			18606	protein-coding gene	gene with protein product		610289				11214971, 11756565	Standard	NM_022120		Approved	FKSG25, FLJ00030, SCOT-T	uc001ceb.1	Q9BYC2	OTTHUMG00000009249	ENST00000327582.5:c.683G>A	1.37:g.40236245C>T	ENSP00000361914:p.Arg228His	891	40008832	NM_022120	B2RBB4|Q5QPK4|Q8NHR1|Q9H1I4	Missense_Mutation	SNP	ENST00000327582.5	37	CCDS445.1	.	.	.	.	.	.	.	.	.	.	c	21.9	4.209573	0.79240	.	.	ENSG00000198754	ENST00000327582;ENST00000542949	D	0.88509	-2.39	2.58	2.58	0.30949	.	0.112837	0.50627	U	0.000105	D	0.93048	0.7787	.	.	.	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	D	0.92807	0.6261	9	0.54805	T	0.06	.	11.3023	0.49314	0.0:1.0:0.0:0.0	.	228;228	B3KS89;Q9BYC2	.;SCOT2_HUMAN	H	228	ENSP00000361914:R228H	ENSP00000361914:R228H	R	-	2	0	OXCT2	40008832	0.986000	0.35501	0.557000	0.28306	0.015000	0.08874	3.269000	0.51592	1.734000	0.51633	0.604000	0.83254	CGC		0.612	OXCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025656.1	NM_022120	
TRIT1	54802	broad.mit.edu	37	1	40315830	40315830	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:40315830A>G	ENST00000316891.5	-	5	678	c.664T>C	c.(664-666)Tct>Cct	p.S222P	TRIT1_ENST00000545233.1_5'UTR|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000441669.2_Missense_Mutation_p.S142P|TRIT1_ENST00000537440.1_5'UTR|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000372818.1_Missense_Mutation_p.S222P|TRIT1_ENST00000491865.1_Intron	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	222					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|tRNA dimethylallyltransferase activity (GO:0052381)	p.S222P(1)		breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CAAGGGTTAGAGAACTTCAGA	0.463																																					p.S222P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T664C	1						.						101.0	92.0	95.0					1																	40315830		2203	4300	6503	40088417	SO:0001583	missense	54802	exon5			AF074918	CCDS30681.1	1p34.2	2012-10-05			ENSG00000043514	ENSG00000043514	2.5.1.8		20286	protein-coding gene	gene with protein product						11111046, 15870694	Standard	NM_017646		Approved	FLJ20061, IPT	uc021olz.1	Q9H3H1	OTTHUMG00000009245	ENST00000316891.5:c.664T>C	1.37:g.40315830A>G	ENSP00000321810:p.Ser222Pro		40088417	NM_017646	A1A4X7|Q3T7B5|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7	Missense_Mutation	SNP	ENST00000316891.5	37	CCDS30681.1	.	.	.	.	.	.	.	.	.	.	A	4.340	0.062458	0.08388	.	.	ENSG00000043514	ENST00000046894;ENST00000372825;ENST00000441669;ENST00000316891;ENST00000372818;ENST00000534869	T;T	0.43294	0.96;0.95	5.97	0.657	0.17850	.	0.379182	0.33144	N	0.005225	T	0.16171	0.0389	N	0.03050	-0.425	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.04961	-1.0915	10	0.29301	T	0.29	-1.5315	7.887	0.29656	0.2868:0.1041:0.6091:0.0	.	222;222;142	Q9H3H1;Q9H3H1-4;Q9H3H1-5	MOD5_HUMAN;.;.	P	222;142;136;222;222;115	ENSP00000321810:S222P;ENSP00000361905:S222P	ENSP00000046894:S222P	S	-	1	0	TRIT1	40088417	1.000000	0.71417	0.997000	0.53966	0.951000	0.60555	1.618000	0.36954	0.085000	0.17107	-0.256000	0.11100	TCT		0.463	TRIT1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025627.2	NM_017646	
CTPS1	1503	broad.mit.edu	37	1	41463100	41463100	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:41463100C>A	ENST00000372621.4	+	9	1415	c.907C>A	c.(907-909)Ctt>Att	p.L303I	CTPS1_ENST00000372616.1_Missense_Mutation_p.L303I|CTPS1_ENST00000541520.1_Missense_Mutation_p.L72I	NM_001905.2	NP_001896.2			CTP synthase 1									p.L303I(1)		endometrium(3)|lung(10)	13						CTCTATTGCCCTTGTGGGCAA	0.433																																					p.L303I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C907A	1						.						112.0	105.0	108.0					1																	41463100		2203	4300	6503	41235687	SO:0001583	missense	1503	exon9			BC009408	CCDS459.1	1p34.1	2012-05-02	2012-05-02	2012-05-02	ENSG00000171793	ENSG00000171793	6.3.4.2		2519	protein-coding gene	gene with protein product		123860	"""CTP synthase"""	CTPS		1783378	Standard	XM_005270536		Approved		uc001cgk.4	P17812	OTTHUMG00000005712	ENST00000372621.4:c.907C>A	1.37:g.41463100C>A	ENSP00000361704:p.Leu303Ile		41235687	NM_001905		Missense_Mutation	SNP	ENST00000372621.4	37	CCDS459.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.265990	0.40095	.	.	ENSG00000171793	ENST00000372621;ENST00000541520;ENST00000372616	T;T;T	0.51574	0.7;0.72;0.7	5.96	5.06	0.68205	Glutamine amidotransferase type 1 (1);	0.000000	0.85682	D	0.000000	T	0.40145	0.1105	L	0.33339	1.005	0.80722	D	1	B;B	0.25312	0.123;0.032	B;B	0.34489	0.184;0.093	T	0.29027	-1.0025	10	0.40728	T	0.16	.	10.1744	0.42931	0.0:0.8484:0.0:0.1516	.	72;303	B4DR64;P17812	.;PYRG1_HUMAN	I	303;72;303	ENSP00000361704:L303I;ENSP00000442646:L72I;ENSP00000361699:L303I	ENSP00000361699:L303I	L	+	1	0	CTPS	41235687	0.998000	0.40836	0.997000	0.53966	0.980000	0.70556	3.787000	0.55439	1.538000	0.49270	-0.140000	0.14226	CTT		0.433	CTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015629.1	NM_001905	
MPL	4352	broad.mit.edu	37	1	43805797	43805797	+	Splice_Site	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:43805797G>T	ENST00000372470.3	+	5	895	c.853G>T	c.(853-855)Gtg>Ttg	p.V285L	MPL_ENST00000413998.2_Splice_Site_p.V285L	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	MPL proto-oncogene, thrombopoietin receptor	285					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|platelet activation (GO:0030168)|regulation of chemokine production (GO:0032642)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|transmembrane signaling receptor activity (GO:0004888)	p.V285L(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			Eltrombopag(DB06210)|Romiplostim(DB05332)	TGGAGATGCAGGTGAGTCAAC	0.567			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia																														p.V285L	NSCLC(52;534 1204 10016 41452 44427)	yes	Dom	yes	Familial essential thrombocythemia	1	p34	4352	"""myeloproliferative leukemia virus oncogene, thrombopoietin receptor"""	yes	L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G853T	1						.						49.0	47.0	48.0					1																	43805797		2203	4300	6503	43578384	SO:0001630	splice_region_variant	4352	exon5			M90102	CCDS483.1	1p34	2014-09-17	2014-06-26		ENSG00000117400	ENSG00000117400		"""CD molecules"", ""Fibronectin type III domain containing"""	7217	protein-coding gene	gene with protein product		159530	"""myeloproliferative leukemia virus oncogene"""			1608974	Standard	NM_005373		Approved	CD110, TPOR	uc001ciw.3	P40238	OTTHUMG00000007429	ENST00000372470.3:c.853+1G>T	1.37:g.43805797G>T			43578384	NM_005373	Q5JUZ0	Missense_Mutation	SNP	ENST00000372470.3	37	CCDS483.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.979456	0.34942	.	.	ENSG00000117400	ENST00000372468;ENST00000372470;ENST00000413998	T;T	0.80738	-1.41;-1.14	5.98	4.88	0.63580	.	0.592019	0.17970	N	0.155887	T	0.74137	0.3677	L	0.57536	1.79	0.28798	N	0.898913	B;B;B	0.34015	0.293;0.339;0.435	B;B;B	0.29598	0.073;0.065;0.104	T	0.68546	-0.5380	10	0.33141	T	0.24	-2.5355	10.9393	0.47264	0.0969:0.0:0.9031:0.0	.	278;285;285	Q308M1;P40238;Q5JUY5	.;TPOR_HUMAN;.	L	285	ENSP00000361548:V285L;ENSP00000414004:V285L	ENSP00000361546:V285L	V	+	1	0	MPL	43578384	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	2.581000	0.46077	2.837000	0.97791	0.591000	0.81541	GTG		0.567	MPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019522.1	NM_005373	Missense_Mutation
ELOVL1	64834	broad.mit.edu	37	1	43830012	43830012	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:43830012T>C	ENST00000372458.3	-	7	718	c.601A>G	c.(601-603)Atg>Gtg	p.M201V	ELOVL1_ENST00000470769.1_5'UTR|ELOVL1_ENST00000413844.2_Missense_Mutation_p.M174V	NM_001256399.1|NM_001256402.1|NM_022821.3	NP_001243328.1|NP_001243331.1|NP_073732.1	Q9BW60	ELOV1_HUMAN	ELOVL fatty acid elongase 1	201				M -> T (in Ref. 3; BAD96218). {ECO:0000305}.	cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)	p.M201V(1)		endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATGGCTGTCATGTGCTTTTTC	0.502																																					p.M201V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A601G	1						.						184.0	178.0	180.0					1																	43830012		2203	4300	6503	43602599	SO:0001583	missense	64834	exon7			AK001653	CCDS485.1, CCDS57987.1	1p34	2011-05-25	2011-05-25		ENSG00000066322	ENSG00000066322			14418	protein-coding gene	gene with protein product		611813	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1"""				Standard	NM_022821		Approved	Ssc1	uc031pmf.1	Q9BW60	OTTHUMG00000007422	ENST00000372458.3:c.601A>G	1.37:g.43830012T>C	ENSP00000361536:p.Met201Val		43602599	NM_022821	B4DP24|Q53HT2|Q5JUY3|Q8WXU3|Q9NVD9|Q9Y396	Missense_Mutation	SNP	ENST00000372458.3	37	CCDS485.1	.	.	.	.	.	.	.	.	.	.	T	14.44	2.535428	0.45176	.	.	ENSG00000066322	ENST00000372458;ENST00000413844	T;T	0.17528	2.27;2.27	5.7	5.7	0.88788	.	0.072912	0.85682	D	0.000000	T	0.17704	0.0425	L	0.33339	1.005	0.80722	D	1	B;B	0.23128	0.035;0.08	B;B	0.28305	0.088;0.088	T	0.02639	-1.1130	10	0.62326	D	0.03	-14.022	15.9514	0.79843	0.0:0.0:0.0:1.0	.	174;201	B4DP24;Q9BW60	.;ELOV1_HUMAN	V	201;174	ENSP00000361536:M201V;ENSP00000416024:M174V	ENSP00000361536:M201V	M	-	1	0	ELOVL1	43602599	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	4.770000	0.62309	2.171000	0.68590	0.482000	0.46254	ATG		0.502	ELOVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019496.1	NM_022821	
SZT2	23334	broad.mit.edu	37	1	43870113	43870113	+	Silent	SNP	C	C	T	rs187131803		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:43870113C>T	ENST00000562955.1	+	4	390	c.390C>T	c.(388-390)ggC>ggT	p.G130G	SZT2_ENST00000372450.4_Silent_p.G128G|SZT2_ENST00000310739.4_Silent_p.G130G	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	130					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)		p.G128G(1)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GCTGCTTAGGCGGGCTGCTTC	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		19078	0.001		0.0	False		,,,				2504	0.0				p.G128G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C384T	1						.						102.0	95.0	97.0					1																	43870113		2203	4300	6503	43642700	SO:0001819	synonymous_variant	23334	exon4			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.390C>T	1.37:g.43870113C>T			43642700	NM_001012961	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	CCDS30694.2																																																																																				0.542	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284	
IPO13	9670	broad.mit.edu	37	1	44422099	44422099	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:44422099G>A	ENST00000372343.3	+	3	1591	c.929G>A	c.(928-930)cGc>cAc	p.R310H	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	310					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R310H(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GGCATCTGTCGCATCGCTGTG	0.592																																					p.R310H												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G929A	1						.						70.0	65.0	66.0					1																	44422099		2203	4300	6503	44194686	SO:0001583	missense	9670	exon3			AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.929G>A	1.37:g.44422099G>A	ENSP00000361418:p.Arg310His		44194686	NM_014652	D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	ENST00000372343.3	37	CCDS503.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396699	0.83120	.	.	ENSG00000117408	ENST00000372343	.	.	.	5.75	4.81	0.61882	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.43122	0.1233	L	0.45581	1.43	0.80722	D	1	P	0.47545	0.897	B	0.32624	0.149	T	0.55360	-0.8153	9	0.66056	D	0.02	-13.1918	16.8798	0.86060	0.0:0.1277:0.8723:0.0	.	310	O94829	IPO13_HUMAN	H	310	.	ENSP00000361418:R310H	R	+	2	0	IPO13	44194686	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.942000	0.87708	2.721000	0.93114	0.511000	0.50034	CGC		0.592	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652	
B4GALT2	8704	broad.mit.edu	37	1	44456091	44456091	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:44456091C>T	ENST00000356836.6	+	7	1880	c.1090C>T	c.(1090-1092)Cgg>Tgg	p.R364W	B4GALT2_ENST00000372324.1_Missense_Mutation_p.R364W|CCDC24_ENST00000372318.3_5'Flank|B4GALT2_ENST00000309519.7_Missense_Mutation_p.R393W|B4GALT2_ENST00000434555.2_Missense_Mutation_p.R298W	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	364					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)	p.R364W(1)		endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	GGACATTGGGCGGCCTCCGTC	0.612																																					p.R364W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1090T	1						.						128.0	130.0	129.0					1																	44456091		2203	4300	6503	44228678	SO:0001583	missense	8704	exon7			AF038660	CCDS506.1, CCDS55596.1	1p34-p33	2013-02-19			ENSG00000117411	ENSG00000117411		"""Beta 4-glycosyltransferases"""	925	protein-coding gene	gene with protein product		604013				9405390, 9597550	Standard	NM_003780		Approved	beta4Gal-T2	uc010okl.2	O60909	OTTHUMG00000008296	ENST00000356836.6:c.1090C>T	1.37:g.44456091C>T	ENSP00000349293:p.Arg364Trp		44228678	NM_001005417	B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	Missense_Mutation	SNP	ENST00000356836.6	37	CCDS506.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.927411	0.52759	.	.	ENSG00000117411	ENST00000372324;ENST00000434555;ENST00000356836;ENST00000309519	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	5.4	3.4	0.38934	.	0.193915	0.44483	D	0.000447	T	0.39600	0.1084	L	0.34521	1.04	0.35260	D	0.77951	D;D;P	0.69078	0.975;0.997;0.952	B;P;B	0.57776	0.432;0.827;0.339	T	0.53034	-0.8495	10	0.66056	D	0.02	-10.533	8.9935	0.36039	0.2414:0.6799:0.0:0.0787	.	393;298;364	B4DE14;O60909-2;O60909	.;.;B4GT2_HUMAN	W	364;298;364;393	ENSP00000361399:R364W;ENSP00000407468:R298W;ENSP00000349293:R364W;ENSP00000310696:R393W	ENSP00000310696:R393W	R	+	1	2	B4GALT2	44228678	0.989000	0.36119	0.993000	0.49108	0.884000	0.51177	1.389000	0.34453	1.420000	0.47138	0.543000	0.68304	CGG		0.612	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022840.1	NM_003780	
PLK3	1263	broad.mit.edu	37	1	45268976	45268976	+	Missense_Mutation	SNP	G	G	A	rs199844223		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:45268976G>A	ENST00000372201.4	+	8	1224	c.985G>A	c.(985-987)Gtg>Atg	p.V329M	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	329					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)	p.V290M(1)		endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CAGCAGCTGCGTGACAGTCCC	0.572																																					p.V329M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G985A	1						.						62.0	65.0	64.0					1																	45268976		2203	4300	6503	45041563	SO:0001583	missense	1263	exon8			AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"""cytokine-inducible kinase"", ""polo-like kinase 3 (Drosophila)"""	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.985G>A	1.37:g.45268976G>A	ENSP00000361275:p.Val329Met		45041563	NM_004073	Q15767|Q5JR99|Q96CV1	Missense_Mutation	SNP	ENST00000372201.4	37	CCDS515.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.595161	0.28445	.	.	ENSG00000173846	ENST00000372201;ENST00000543983	T	0.25250	1.81	5.52	2.35	0.29111	Protein kinase-like domain (1);	.	.	.	.	T	0.20941	0.0504	L	0.55834	1.745	0.43988	D	0.996684	B	0.30851	0.297	B	0.23018	0.043	T	0.03852	-1.0998	9	0.33141	T	0.24	-2.8788	9.739	0.40406	0.2434:0.0:0.7566:0.0	.	329	Q9H4B4	PLK3_HUMAN	M	329;304	ENSP00000361275:V329M	ENSP00000361275:V329M	V	+	1	0	PLK3	45041563	0.951000	0.32395	0.940000	0.37924	0.964000	0.63967	1.535000	0.36061	0.596000	0.29794	0.561000	0.74099	GTG		0.572	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1	NM_004073	
MUTYH	4595	broad.mit.edu	37	1	45795092	45795092	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:45795092C>T	ENST00000372098.3	-	16	1660	c.1527G>A	c.(1525-1527)caG>caA	p.Q509Q	MUTYH_ENST00000372104.1_Silent_p.Q484Q|MUTYH_ENST00000529984.1_Silent_p.Q179Q|MUTYH_ENST00000372110.3_Silent_p.Q499Q|MUTYH_ENST00000354383.6_Silent_p.Q485Q|MUTYH_ENST00000450313.1_Silent_p.Q512Q|MUTYH_ENST00000372115.3_Silent_p.Q498Q|MUTYH_ENST00000456914.2_Silent_p.Q484Q|MUTYH_ENST00000448481.1_Silent_p.Q495Q|MUTYH_ENST00000372100.5_Silent_p.Q495Q|MUTYH_ENST00000488731.2_Silent_p.Q179Q|MUTYH_ENST00000531105.1_Missense_Mutation_p.G45S|MUTYH_ENST00000528013.2_Silent_p.Q498Q|MUTYH_ENST00000528332.2_Silent_p.Q193Q|MUTYH_ENST00000355498.2_Silent_p.Q484Q			Q9UIF7	MUTYH_HUMAN	mutY homolog	509					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA repair (GO:0006281)|mismatch repair (GO:0006298)	mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|metal ion binding (GO:0046872)|MutSalpha complex binding (GO:0032407)	p.Q509Q(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GAGAGGACACCTGGGACCTTT	0.547			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																												p.Q484Q		yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	mutY homolog (E. coli)		E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1452A	1						.						123.0	136.0	131.0					1																	45795092		2203	4300	6503	45567679	SO:0001819	synonymous_variant	4595	exon16	Familial Cancer Database	MAP, MYH-associated polyposis	U63329	CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1	1p34.1	2014-09-17	2013-09-12		ENSG00000132781	ENSG00000132781			7527	protein-coding gene	gene with protein product		604933	"""mutY (E. coli) homolog"", ""mutY homolog (E. coli)"""			7823963, 10684930	Standard	NM_012222		Approved	MYH	uc009vxp.3	Q9UIF7	OTTHUMG00000007682	ENST00000372098.3:c.1527G>A	1.37:g.45795092C>T			45567679	NM_001048173	D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Silent	SNP	ENST00000372098.3	37	CCDS520.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.21|10.21	1.288389|1.288389	0.23478|0.23478	.|.	.|.	ENSG00000132781|ENSG00000132781	ENST00000531105|ENST00000529892	T|.	0.62364|.	0.03|.	4.39|4.39	-2.3|-2.3	0.06785|0.06785	.|.	.|.	.|.	.|.	.|.	T|T	0.22044|0.22044	0.0531|0.0531	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999994|0.999994	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.30679|0.30679	-0.9970|-0.9970	6|4	0.48119|.	T|.	0.1|.	0.1049|0.1049	4.7252|4.7252	0.12938|0.12938	0.0:0.2854:0.3299:0.3847|0.0:0.2854:0.3299:0.3847	.|.	.|.	.|.	.|.	S|K	45|176	ENSP00000431292:G45S|.	ENSP00000431292:G45S|.	G|R	-|-	1|2	0|0	MUTYH|MUTYH	45567679|45567679	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.948000|0.948000	0.59901|0.59901	-1.208000|-1.208000	0.03005|0.03005	-0.293000|-0.293000	0.08986|0.08986	0.655000|0.655000	0.94253|0.94253	GGT|AGG		0.547	MUTYH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020529.1	NM_012222	
TESK2	10420	broad.mit.edu	37	1	45811096	45811096	+	Missense_Mutation	SNP	G	G	A	rs201715014		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:45811096G>A	ENST00000372086.3	-	11	1532	c.1132C>T	c.(1132-1134)Cgt>Tgt	p.R378C	TESK2_ENST00000538496.1_Missense_Mutation_p.R295C|TESK2_ENST00000341771.6_Missense_Mutation_p.R349C|TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Missense_Mutation_p.R349C	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	378					actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.R362C(2)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					CTCACTGTACGTGGGGGCTTA	0.567																																					p.R378C												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C1132T	1						.						53.0	55.0	54.0					1																	45811096		1992	4156	6148	45583683	SO:0001583	missense	10420	exon11			AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	2.7.12.1		11732	protein-coding gene	gene with protein product		604746				10512679	Standard	NM_007170		Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.1132C>T	1.37:g.45811096G>A	ENSP00000361158:p.Arg378Cys		45583683	NM_007170	Q5T422|Q5T423|Q8N520|Q9Y3Q6	Missense_Mutation	SNP	ENST00000372086.3	37	CCDS41323.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134136	0.56828	.	.	ENSG00000070759	ENST00000372084;ENST00000372086;ENST00000372083;ENST00000341771;ENST00000538496	T;T;T;T	0.77098	-0.95;-0.79;-0.95;-1.07	5.86	4.94	0.65067	.	0.374315	0.25590	N	0.029632	T	0.81635	0.4864	M	0.63428	1.95	0.80722	D	1	D;D	0.65815	0.995;0.992	P;P	0.55824	0.785;0.614	T	0.81355	-0.0970	10	0.45353	T	0.12	-0.7744	10.4951	0.44772	0.0707:0.0:0.7881:0.1413	.	349;378	Q96S53-3;Q96S53	.;TESK2_HUMAN	C	349;378;362;349;295	ENSP00000361156:R349C;ENSP00000361158:R378C;ENSP00000343940:R349C;ENSP00000441746:R295C	ENSP00000343940:R349C	R	-	1	0	TESK2	45583683	0.995000	0.38212	0.999000	0.59377	0.809000	0.45718	2.748000	0.47483	1.478000	0.48253	0.655000	0.94253	CGT		0.567	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020523.1	NM_007170	
POMGNT1	55624	broad.mit.edu	37	1	46658227	46658227	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:46658227T>C	ENST00000371984.3	-	15	1404	c.1247A>G	c.(1246-1248)gAt>gGt	p.D416G	POMGNT1_ENST00000485714.1_5'UTR|POMGNT1_ENST00000371986.3_Missense_Mutation_p.D416G|POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371992.1_Missense_Mutation_p.D416G|POMGNT1_ENST00000535522.1_Missense_Mutation_p.D394G	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	416					protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)	p.D416G(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					CAGGCTGTCATCCTCCTCCAG	0.517																																					p.D416G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1247G	1						.						94.0	92.0	93.0					1																	46658227		2203	4300	6503	46430814	SO:0001583	missense	55624	exon15				CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	2.4.1.-	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	19139	protein-coding gene	gene with protein product	"""protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"""	606822	"""muscle-eye-brain disease"", ""protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"""	MEB		11742540, 12788071	Standard	NM_017739		Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371984.3:c.1247A>G	1.37:g.46658227T>C	ENSP00000361052:p.Asp416Gly		46430814	NM_017739	D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	Missense_Mutation	SNP	ENST00000371984.3	37	CCDS531.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.786735	0.90367	.	.	ENSG00000085998	ENST00000371984;ENST00000371992;ENST00000535522;ENST00000371986	D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.95900	0.8665	M	0.94063	3.49	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.995;0.997;0.997;0.994;0.999	D	0.96984	0.9717	10	0.87932	D	0	-17.9869	15.6766	0.77332	0.0:0.0:0.0:1.0	.	394;394;416;273;416	F5H827;B7Z7Q4;Q5VST3;B7Z7F2;Q8WZA1	.;.;.;.;PMGT1_HUMAN	G	416;416;394;416	ENSP00000361052:D416G;ENSP00000361060:D416G;ENSP00000443767:D394G;ENSP00000361054:D416G	ENSP00000361052:D416G	D	-	2	0	POMGNT1	46430814	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.760000	0.68793	2.099000	0.63709	0.533000	0.62120	GAT		0.517	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020146.1	NM_017739	
SLC5A9	200010	broad.mit.edu	37	1	48703407	48703407	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:48703407G>T	ENST00000438567.2	+	11	1401	c.1349G>T	c.(1348-1350)aGc>aTc	p.S450I	SLC5A9_ENST00000533824.1_Missense_Mutation_p.S471I|SLC5A9_ENST00000236495.5_Missense_Mutation_p.S475I	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	450					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.S468I(1)		breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						ATCATCCAAAGCTCCAACAGT	0.577																																					p.S475I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1424T	1						.						177.0	138.0	151.0					1																	48703407		2203	4300	6503	48475994	SO:0001583	missense	200010	exon12			BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"""Solute carriers"""	22146	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 9"""				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.1349G>T	1.37:g.48703407G>T	ENSP00000401730:p.Ser450Ile		48475994	NM_001135181	B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Missense_Mutation	SNP	ENST00000438567.2	37	CCDS30709.2	.	.	.	.	.	.	.	.	.	.	g	14.28	2.487313	0.44249	.	.	ENSG00000117834	ENST00000533824;ENST00000438567;ENST00000236495	D;D;D	0.88201	-2.35;-2.35;-2.35	5.04	-0.302	0.12796	.	0.369892	0.32518	N	0.005985	D	0.86335	0.5908	L	0.39566	1.225	0.18873	N	0.999983	B;P;B	0.37276	0.229;0.589;0.146	B;P;B	0.48770	0.077;0.589;0.261	T	0.79188	-0.1906	10	0.72032	D	0.01	.	7.51	0.27569	0.2279:0.4662:0.3059:0.0	.	471;450;475	E9PJ08;Q2M3M2;E9PAK4	.;SC5A9_HUMAN;.	I	471;450;475	ENSP00000431900:S471I;ENSP00000401730:S450I;ENSP00000236495:S475I	ENSP00000236495:S475I	S	+	2	0	SLC5A9	48475994	0.000000	0.05858	0.972000	0.41901	0.969000	0.65631	0.686000	0.25392	0.037000	0.15575	-0.831000	0.03077	AGC		0.577	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	XM_117174	
TTC39A	22996	broad.mit.edu	37	1	51787446	51787446	+	Silent	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:51787446C>A	ENST00000447632.2	-	2	144	c.96G>T	c.(94-96)ctG>ctT	p.L32L	TTC39A_ENST00000262676.5_Silent_p.L28L|TTC39A_ENST00000371750.5_Silent_p.L32L|TTC39A_ENST00000451380.1_Silent_p.L31L|TTC39A_ENST00000371747.3_Silent_p.L31L|TTC39A_ENST00000413473.2_Silent_p.L35L|TTC39A_ENST00000262675.7_Silent_p.L4L			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	32								p.0?(2)|p.L32L(1)|p.L4L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						GGAAGAGGTCCAGGGCGGTCA	0.632																																					p.L35L												.	.	4	Whole gene deletion(2)|Substitution - coding silent(2)	large_intestine(2)|thyroid(1)|central_nervous_system(1)	c.G105T	1						.						67.0	68.0	68.0					1																	51787446		1975	4165	6140	51560034	SO:0001819	synonymous_variant	22996	exon2			AB007921	CCDS44143.1, CCDS44144.1, CCDS72789.1, CCDS72790.1	1p32.3	2013-01-11	2008-06-23	2008-06-23	ENSG00000085831	ENSG00000085831		"""Tetratricopeptide (TTC) repeat domain containing"""	18657	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 34"""	C1orf34		9455484, 9461476	Standard	XM_005270643		Approved	KIAA0452, DEME-6	uc010onf.2	Q5SRH9	OTTHUMG00000008193	ENST00000447632.2:c.96G>T	1.37:g.51787446C>A			51560034	NM_001144832	B7Z782|E7EQY9|G3XAF8|O43417|O75040|Q5SRH5|Q5SRH6|Q5SRH7|Q5SRH8|Q5SRI0|Q5SRI1|Q5SRI2|Q5T7S1|Q6PIU8|Q9BT24	Silent	SNP	ENST00000447632.2	37																																																																																					0.632	TTC39A-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000022434.2		
ZCCHC11	23318	broad.mit.edu	37	1	52897013	52897013	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:52897013C>T	ENST00000371544.3	-	28	4642	c.4380G>A	c.(4378-4380)caG>caA	p.Q1460Q	ZCCHC11_ENST00000257177.4_Silent_p.Q1461Q	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1460	Gln-rich.|Pro-rich.				cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.Q1461Q(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GGGCTCCCTGCTGAGGTGGGC	0.537																																					p.Q1461Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4383A	1						.						98.0	86.0	90.0					1																	52897013		2203	4300	6503	52669601	SO:0001819	synonymous_variant	23318	exon28			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.4380G>A	1.37:g.52897013C>T			52669601	NM_001009881	A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Silent	SNP	ENST00000371544.3	37	CCDS30716.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.565|4.565	0.104987|0.104987	0.08731|0.08731	.|.	.|.	ENSG00000134744|ENSG00000134744	ENST00000474453|ENST00000494469	.|.	.|.	.|.	5.37|5.37	3.49|3.49	0.39957|0.39957	.|.	.|.	.|.	.|.	.|.	T|T	0.59348|0.59348	0.2187|0.2187	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.56378|0.56378	-0.7989|-0.7989	4|4	.|.	.|.	.|.	.|.	9.4327|9.4327	0.38620|0.38620	0.0:0.7807:0.0:0.2193|0.0:0.7807:0.0:0.2193	.|.	.|.	.|.	.|.	T|N	306|33	.|.	.|.	A|S	-|-	1|2	0|0	ZCCHC11|ZCCHC11	52669601|52669601	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.661000|0.661000	0.39034|0.39034	2.662000|2.662000	0.46766|0.46766	1.275000|1.275000	0.44379|0.44379	-0.262000|-0.262000	0.10625|0.10625	GCA|AGC		0.537	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288	
ACOT11	26027	broad.mit.edu	37	1	55058258	55058258	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:55058258G>A	ENST00000371316.3	+	4	433	c.351G>A	c.(349-351)cgG>cgA	p.R117R	ACOT11_ENST00000343744.2_Silent_p.R117R|ACOT11_ENST00000481208.1_3'UTR	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	117	Acyl coenzyme A hydrolase 1.				fatty acid metabolic process (GO:0006631)|intracellular signal transduction (GO:0035556)|response to cold (GO:0009409)|response to temperature stimulus (GO:0009266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)	p.R117R(2)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						AGGTGAACCGGGCCTTCAACT	0.602																																					p.R117R	Ovarian(148;1440 1861 22015 32453 51933)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G351A	1						.						108.0	92.0	98.0					1																	55058258		2203	4300	6503	54830846	SO:0001819	synonymous_variant	26027	exon4			AB014607	CCDS592.1, CCDS593.1	1p32.3	2011-09-13	2005-09-08	2005-09-08	ENSG00000162390	ENSG00000162390	3.1.2.-	"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	18156	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 14"""	606803	"""thioesterase, adipose associated"""	THEA		11696000, 16103133, 16940157	Standard	NM_015547		Approved	STARD14, BFIT, KIAA0707, BFIT1, THEM1	uc001cxl.2	Q8WXI4	OTTHUMG00000009891	ENST00000371316.3:c.351G>A	1.37:g.55058258G>A			54830846	NM_147161	B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883	Silent	SNP	ENST00000371316.3	37	CCDS592.1																																																																																				0.602	ACOT11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027356.1	NM_015547	
C1orf87	127795	broad.mit.edu	37	1	60456383	60456383	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:60456383G>T	ENST00000371201.3	-	12	1710	c.1603C>A	c.(1603-1605)Ctc>Atc	p.L535I	C1orf87_ENST00000450089.2_Missense_Mutation_p.L306I|C1orf87_ENST00000486478.1_5'UTR|C1orf87_ENST00000395552.1_Missense_Mutation_p.L169I	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	535							calcium ion binding (GO:0005509)	p.L535I(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GGCTCCAAGAGCATATTTTCT	0.468																																					p.L535I	NSCLC(75;811 1386 4923 13371 51772)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1603A	1						.						204.0	201.0	202.0					1																	60456383		2203	4300	6503	60228971	SO:0001583	missense	127795	exon12			AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"""carcinoma-related EF-hand protein"""					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.1603C>A	1.37:g.60456383G>T	ENSP00000360244:p.Leu535Ile		60228971	NM_152377	Q6ZU07|Q8IVS0	Missense_Mutation	SNP	ENST00000371201.3	37	CCDS614.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.835846	0.32421	.	.	ENSG00000162598	ENST00000371201;ENST00000395552	T;T	0.32515	2.21;1.45	4.89	1.92	0.25849	.	0.414645	0.18740	N	0.132481	T	0.18087	0.0434	L	0.38175	1.15	0.21064	N	0.999792	B	0.27882	0.192	B	0.25759	0.063	T	0.16217	-1.0410	10	0.26408	T	0.33	-2.2864	2.7952	0.05399	0.1669:0.1388:0.5424:0.1519	.	535	Q8N0U7	CA087_HUMAN	I	535;169	ENSP00000360244:L535I;ENSP00000378921:L169I	ENSP00000360244:L535I	L	-	1	0	C1orf87	60228971	0.994000	0.37717	0.954000	0.39281	0.960000	0.62799	1.458000	0.35223	0.230000	0.21059	0.563000	0.77884	CTC		0.468	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024943.1	NM_152377	
ALG6	29929	broad.mit.edu	37	1	63902532	63902532	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:63902532G>A	ENST00000371108.4	+	15	1670	c.1365G>A	c.(1363-1365)ttG>ttA	p.L455L	ALG6_ENST00000494765.1_3'UTR|ALG6_ENST00000263440.4_Silent_p.L457L	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	455					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosyltransferase activity (GO:0046527)	p.L455L(1)		endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TTCTGACGTTGATGACTGTCA	0.383																																					p.L455L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1365A	1						.						240.0	226.0	231.0					1																	63902532		2203	4300	6503	63675120	SO:0001819	synonymous_variant	29929	exon15			AF063604	CCDS30735.1	1p31.3	2013-03-01	2013-03-01		ENSG00000088035	ENSG00000088035	2.4.1.267		23157	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	604566	"""asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""			10359825, 11875054	Standard	NM_013339		Approved		uc021oof.1	Q9Y672	OTTHUMG00000009140	ENST00000371108.4:c.1365G>A	1.37:g.63902532G>A			63675120	NM_013339	B3KMU2|Q5SXR9|Q9H3I0	Silent	SNP	ENST00000371108.4	37	CCDS30735.1																																																																																				0.383	ALG6-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025330.2	NM_013339	
DEPDC1	55635	broad.mit.edu	37	1	68954701	68954701	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:68954701A>T	ENST00000456315.2	-	4	602	c.488T>A	c.(487-489)aTa>aAa	p.I163K	DEPDC1_ENST00000370966.5_Missense_Mutation_p.I163K	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	163					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)	p.I163K(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		TTCATGCTTTATTTTCTCGCC	0.279																																					p.I163K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T488A	1						.						93.0	85.0	88.0					1																	68954701		2201	4292	6493	68727289	SO:0001583	missense	55635	exon4			AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.488T>A	1.37:g.68954701A>T	ENSP00000412292:p.Ile163Lys		68727289	NM_001114120	A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Missense_Mutation	SNP	ENST00000456315.2	37	CCDS44159.1	.	.	.	.	.	.	.	.	.	.	A	8.649	0.897702	0.17686	.	.	ENSG00000024526	ENST00000456315;ENST00000370966;ENST00000370964	T;T	0.14516	2.5;2.5	5.56	1.81	0.25067	.	0.834429	0.11850	N	0.523370	T	0.03011	0.0089	L	0.41824	1.3	0.09310	N	1	B;B	0.30361	0.006;0.277	B;B	0.32465	0.005;0.146	T	0.46386	-0.9195	9	.	.	.	1.198	1.8339	0.03135	0.572:0.1389:0.1555:0.1336	.	163;163	Q5TB30;Q5TB30-2	DEP1A_HUMAN;.	K	163;163;108	ENSP00000412292:I163K;ENSP00000360005:I163K	.	I	-	2	0	DEPDC1	68727289	0.004000	0.15560	0.460000	0.27093	0.961000	0.63080	0.979000	0.29500	0.099000	0.17552	0.528000	0.53228	ATA		0.279	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025514.2	NM_017779	
CTH	1491	broad.mit.edu	37	1	70890067	70890067	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:70890067G>A	ENST00000370938.3	+	5	700	c.556G>A	c.(556-558)Gtg>Atg	p.V186M	CTH_ENST00000411986.2_Missense_Mutation_p.V154M|CTH_ENST00000464926.1_3'UTR|CTH_ENST00000346806.2_Intron	NM_001902.5	NP_001893.2	Q96IQ7	VSIG2_HUMAN	cystathionine gamma-lyase	0	Ig-like C2-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.V186M(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TATTTTGGTCGTGGATAACAC	0.378																																					p.V154M												CTH,lung,NS,Substitution - coding silent,-2 	.	1	Substitution - Missense(1)	large_intestine(1)	c.G460A	1						.						170.0	154.0	160.0					1																	70890067		2203	4300	6503	70662655	SO:0001583	missense	1491	exon4			BC015807	CCDS650.1, CCDS651.1, CCDS53333.1	1p31.1	2014-06-24	2014-06-24		ENSG00000116761	ENSG00000116761	4.4.1.1		2501	protein-coding gene	gene with protein product		607657	"""cystathionase (cystathionine gamma-lyase)"""			1339280	Standard	NM_001902		Approved		uc001dfd.3	P32929	OTTHUMG00000009352	ENST00000370938.3:c.556G>A	1.37:g.70890067G>A	ENSP00000359976:p.Val186Met		70662655	NM_001190463	O95791|Q9NX42	Missense_Mutation	SNP	ENST00000370938.3	37	CCDS650.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.478319	0.84747	.	.	ENSG00000116761	ENST00000411986;ENST00000370938	D;D	0.88046	-2.33;-2.33	5.72	5.72	0.89469	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.95367	0.8496	H	0.94306	3.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	D	0.96062	0.9039	10	0.87932	D	0	-9.8067	18.7179	0.91682	0.0:0.0:1.0:0.0	.	154;186	E9PDV0;P32929	.;CGL_HUMAN	M	154;186	ENSP00000413407:V154M;ENSP00000359976:V186M	ENSP00000359976:V186M	V	+	1	0	CTH	70662655	1.000000	0.71417	0.966000	0.40874	0.660000	0.38997	7.857000	0.86963	2.697000	0.92050	0.644000	0.83932	GTG		0.378	CTH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025918.1	NM_001902	
ERICH3	127254	broad.mit.edu	37	1	75072539	75072539	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:75072539G>T	ENST00000326665.5	-	10	1453	c.1235C>A	c.(1234-1236)tCt>tAt	p.S412Y	C1orf173_ENST00000420661.2_Missense_Mutation_p.S215Y|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		412								p.S412Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTCTTTCCTAGATTTCGGCAA	0.408																																					p.S412Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1235A	1						.						119.0	115.0	116.0					1																	75072539		2203	4299	6502	74845127	SO:0001583	missense	127254	exon10																														ENST00000326665.5:c.1235C>A	1.37:g.75072539G>T	ENSP00000322609:p.Ser412Tyr		74845127	NM_001002912	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.256554	0.22965	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.18174	2.71;2.23	5.14	1.96	0.26148	.	.	.	.	.	T	0.03739	0.0106	N	0.22421	0.69	0.09310	N	1	B;P	0.34546	0.311;0.456	B;B	0.32393	0.055;0.145	T	0.35674	-0.9779	9	0.51188	T	0.08	-0.6571	7.6501	0.28344	0.0836:0.0:0.6111:0.3053	.	215;412	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	Y	412;215	ENSP00000322609:S412Y;ENSP00000398581:S215Y	ENSP00000322609:S412Y	S	-	2	0	C1orf173	74845127	0.379000	0.25123	0.259000	0.24435	0.037000	0.13140	0.645000	0.24782	0.624000	0.30286	0.650000	0.86243	TCT		0.408	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1		
SLC44A5	204962	broad.mit.edu	37	1	75693426	75693426	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:75693426T>G	ENST00000370855.5	-	13	1083	c.970A>C	c.(970-972)Aca>Cca	p.T324P	SLC44A5_ENST00000370859.3_Missense_Mutation_p.T324P|SLC44A5_ENST00000535611.1_Missense_Mutation_p.T194P	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	324					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T324P(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						GTGAACCATGTTTGTTGCAGT	0.338																																					p.T324P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A970C	1						.						105.0	103.0	104.0					1																	75693426		2203	4300	6503	75466014	SO:0001583	missense	204962	exon13			BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.970A>C	1.37:g.75693426T>G	ENSP00000359892:p.Thr324Pro		75466014	NM_152697	B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	CCDS667.1	.	.	.	.	.	.	.	.	.	.	T	14.67	2.604538	0.46423	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.18338	2.64;2.65;2.22	5.91	2.29	0.28610	.	0.146049	0.64402	D	0.000009	T	0.27169	0.0666	M	0.87097	2.86	0.80722	D	1	D;P;D;D;D	0.58970	0.984;0.778;0.984;0.968;0.968	P;P;P;D;P	0.66979	0.844;0.656;0.844;0.948;0.882	T	0.03514	-1.1029	10	0.59425	D	0.04	-6.2763	6.2618	0.20903	0.1194:0.1306:0.0:0.75	.	318;363;324;324;363	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	P	324;363;324;194;317	ENSP00000359896:T324P;ENSP00000359892:T324P;ENSP00000443090:T194P	ENSP00000359892:T324P	T	-	1	0	SLC44A5	75466014	1.000000	0.71417	0.996000	0.52242	0.088000	0.18126	3.029000	0.49712	0.137000	0.18759	0.533000	0.62120	ACA		0.338	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697	
SLC44A5	204962	broad.mit.edu	37	1	75699764	75699764	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:75699764C>T	ENST00000370855.5	-	12	873	c.760G>A	c.(760-762)Gtc>Atc	p.V254I	SLC44A5_ENST00000370859.3_Missense_Mutation_p.V254I|SLC44A5_ENST00000535611.1_Missense_Mutation_p.V124I	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	254					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V254I(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CAACTAAGGACCATGGCAATC	0.393																																					p.V254I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G760A	1						.						111.0	110.0	110.0					1																	75699764		2203	4300	6503	75472352	SO:0001583	missense	204962	exon12			BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.760G>A	1.37:g.75699764C>T	ENSP00000359892:p.Val254Ile		75472352	NM_152697	B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	CCDS667.1	.	.	.	.	.	.	.	.	.	.	C	4.444	0.082262	0.08533	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.17854	2.71;2.69;2.25	5.28	-10.6	0.00265	.	1.286760	0.04975	N	0.464628	T	0.01421	0.0046	N	0.17278	0.47	0.21416	N	0.999693	B;B;B;B;B	0.14438	0.001;0.006;0.001;0.004;0.01	B;B;B;B;B	0.17979	0.005;0.014;0.005;0.012;0.02	T	0.32719	-0.9896	10	0.21014	T	0.42	0.1012	0.0668	0.00018	0.309:0.2078:0.2183:0.2648	.	248;293;254;254;293	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	I	254;293;254;124;247	ENSP00000359896:V254I;ENSP00000359892:V254I;ENSP00000443090:V124I	ENSP00000359892:V254I	V	-	1	0	SLC44A5	75472352	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-3.717000	0.00385	-3.657000	0.00125	-2.225000	0.00294	GTC		0.393	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697	
LPHN2	23266	broad.mit.edu	37	1	82302678	82302678	+	Silent	SNP	T	T	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:82302678T>A	ENST00000370728.1	+	5	654	c.9T>A	c.(7-9)tcT>tcA	p.S3S	LPHN2_ENST00000370717.2_Silent_p.S3S|LPHN2_ENST00000370727.1_Silent_p.S3S|LPHN2_ENST00000370723.1_Silent_p.S3S|LPHN2_ENST00000370715.1_Silent_p.S3S|LPHN2_ENST00000370713.1_Silent_p.S3S|LPHN2_ENST00000370730.1_Silent_p.S3S|LPHN2_ENST00000319517.6_Silent_p.S3S|LPHN2_ENST00000271029.4_Silent_p.S3S|LPHN2_ENST00000359929.3_Silent_p.S3S|LPHN2_ENST00000370721.1_Silent_p.S3S|LPHN2_ENST00000335786.5_Silent_p.S3S|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000394879.1_Silent_p.S3S|LPHN2_ENST00000370725.1_Silent_p.S3S			O95490	LPHN2_HUMAN	latrophilin 2	3					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.S3S(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TAATGGTGTCTTCTGGTTGCA	0.338																																					p.S3S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T9A	1						.						163.0	158.0	160.0					1																	82302678		2203	4300	6503	82075266	SO:0001819	synonymous_variant	23266	exon2			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.9T>A	1.37:g.82302678T>A			82075266	NM_012302	A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Silent	SNP	ENST00000370728.1	37																																																																																					0.338	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302	
ZNHIT6	54680	broad.mit.edu	37	1	86171977	86171977	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:86171977C>T	ENST00000370574.3	-	3	917	c.784G>A	c.(784-786)Gca>Aca	p.A262T	ZNHIT6_ENST00000431532.2_Missense_Mutation_p.A223T			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	262					box C/D snoRNP assembly (GO:0000492)|ribosome biogenesis (GO:0042254)	extracellular vesicular exosome (GO:0070062)|pre-snoRNP complex (GO:0070761)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.A262T(1)		autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						GAAATGTATGCAGTTTTATCT	0.373																																					p.A223T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G667A	1						.						124.0	112.0	116.0					1																	86171977		2203	4300	6503	85944565	SO:0001583	missense	54680	exon4			AL442074	CCDS707.1, CCDS53338.1	1p22.3	2013-01-17	2010-09-15	2008-06-23	ENSG00000117174	ENSG00000117174		"""Zinc fingers, HIT-type"""	26089	protein-coding gene	gene with protein product	"""box C/D snoRNA essential 1 homolog (S. cerevisiae)"""		"""chromosome 1 open reading frame 181"", ""zinc finger, HIT type 6"""	C1orf181		12747765	Standard	NM_017953		Approved	FLJ20729, NY-BR-75, BCD1	uc001dlh.3	Q9NWK9	OTTHUMG00000010576	ENST00000370574.3:c.784G>A	1.37:g.86171977C>T	ENSP00000359606:p.Ala262Thr		85944565	NM_001170670	B2RBA1|B4DP13|D3DT20|Q9H278|Q9H3X3|Q9NWN0	Missense_Mutation	SNP	ENST00000370574.3	37	CCDS707.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.295413	0.60086	.	.	ENSG00000117174	ENST00000431532;ENST00000370574	T;T	0.48522	0.85;0.81	5.43	5.43	0.79202	.	0.117372	0.56097	D	0.000032	T	0.54935	0.1889	L	0.45228	1.405	0.58432	D	0.999997	B;D	0.89917	0.369;1.0	B;D	0.66716	0.127;0.946	T	0.52525	-0.8564	10	0.49607	T	0.09	-17.1507	19.6341	0.95722	0.0:1.0:0.0:0.0	.	223;262	B4DP13;Q9NWK9	.;BCD1_HUMAN	T	223;262	ENSP00000414344:A223T;ENSP00000359606:A262T	ENSP00000359606:A262T	A	-	1	0	ZNHIT6	85944565	1.000000	0.71417	0.995000	0.50966	0.498000	0.33706	4.594000	0.61041	2.724000	0.93272	0.650000	0.86243	GCA		0.373	ZNHIT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029186.1	NM_017953	
GBP3	2635	broad.mit.edu	37	1	89476660	89476660	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:89476660delC	ENST00000370481.4	-	8	1509	c.1289delG	c.(1288-1290)ggcfs	p.G430fs		NM_018284.2	NP_060754.2	Q8WXF7	ATLA1_HUMAN	guanylate binding protein 3	0					axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.G430fs*34(1)		breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		GAGACAATAGCCCCCTGGTTT	0.418																																					p.G430fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1289delG	1						.						193.0	162.0	173.0					1																	89476660		2191	3988	6179	89249248	SO:0001589	frameshift_variant	2635	exon8			BC063819	CCDS717.2	1p22.2	2008-02-05			ENSG00000117226	ENSG00000117226			4184	protein-coding gene	gene with protein product		600413				7518790	Standard	NM_018284		Approved	FLJ10961	uc001dmt.3	Q9H0R5	OTTHUMG00000010616	ENST00000370481.4:c.1289delG	1.37:g.89476660delC	ENSP00000359512:p.Gly430fs		89249248	NM_018284	A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Frame_Shift_Del	DEL	ENST00000370481.4	37	CCDS717.2																																																																																				0.418	GBP3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313541.3	NM_018284	
RPAP2	79871	broad.mit.edu	37	1	92765758	92765758	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:92765758A>G	ENST00000610020.1	+	2	190	c.81A>G	c.(79-81)aaA>aaG	p.K27K	RPAP2_ENST00000484158.1_3'UTR|GLMN_ENST00000534881.1_5'Flank|GLMN_ENST00000370360.3_5'Flank	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	27					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)	p.K27K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		TAGGTACTAAACAGACAAGTA	0.353																																					p.K27K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A81G	1						.						134.0	134.0	134.0					1																	92765758		2203	4300	6503	92538346	SO:0001819	synonymous_variant	79871	exon2			AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"""chromosome 1 open reading frame 82"""	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.81A>G	1.37:g.92765758A>G			92538346	NM_024813	C9JKB5|Q49AS7|Q9H8Y2	Silent	SNP	ENST00000610020.1	37	CCDS740.1																																																																																				0.353	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028368.2	NM_024813	
ABCA4	24	broad.mit.edu	37	1	94577042	94577042	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:94577042G>A	ENST00000370225.3	-	3	340	c.254C>T	c.(253-255)cCc>cTc	p.P85L	ABCA4_ENST00000535735.1_Missense_Mutation_p.P85L	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	85					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.P85L(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCCTGGGGTGGGGCTTTGAAA	0.507																																					p.P85L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C254T	1						.						65.0	64.0	64.0					1																	94577042		2203	4300	6503	94349630	SO:0001583	missense	24	exon3			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.254C>T	1.37:g.94577042G>A	ENSP00000359245:p.Pro85Leu		94349630	NM_000350	O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	CCDS747.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.597317	0.87055	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.99880	-7.45;-7.45	5.63	5.63	0.86233	.	0.174268	0.51477	D	0.000088	D	0.99887	0.9946	M	0.76838	2.35	0.80722	D	1	D;P	0.76494	0.999;0.941	D;P	0.76575	0.988;0.504	D	0.96352	0.9259	10	0.87932	D	0	.	18.5173	0.90939	0.0:0.0:1.0:0.0	.	85;85	F5H6E5;P78363	.;ABCA4_HUMAN	L	85	ENSP00000359245:P85L;ENSP00000437682:P85L	ENSP00000359245:P85L	P	-	2	0	ABCA4	94349630	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	9.423000	0.97461	2.675000	0.91044	0.650000	0.86243	CCC		0.507	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350	
SLC44A3	126969	broad.mit.edu	37	1	95293155	95293155	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:95293155A>G	ENST00000271227.6	+	4	473	c.371A>G	c.(370-372)cAg>cGg	p.Q124R	SLC44A3_ENST00000467909.1_Missense_Mutation_p.Q76R|SLC44A3_ENST00000532427.1_Intron|SLC44A3_ENST00000527077.1_Intron|SLC44A3_ENST00000529450.1_Intron|SLC44A3_ENST00000446120.2_Missense_Mutation_p.Q88R|SLC44A3_ENST00000530397.1_Intron	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	124					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q76R(1)|p.Q124R(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	CCTGAAGAGCAGCTTGACTCC	0.512																																					p.Q124R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A371G	1						.						160.0	147.0	151.0					1																	95293155		2203	4300	6503	95065743	SO:0001583	missense	126969	exon4			BC033858	CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1	1p22.1	2013-05-22	2005-09-06		ENSG00000143036	ENSG00000143036		"""Solute carriers"""	28689	protein-coding gene	gene with protein product			"""solute carrier family, member 3"""			15715662, 12975309	Standard	NM_001114106		Approved	MGC45474, CTL3	uc001dqv.5	Q8N4M1	OTTHUMG00000010700	ENST00000271227.6:c.371A>G	1.37:g.95293155A>G	ENSP00000271227:p.Gln124Arg		95065743	NM_001114106	B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7	Missense_Mutation	SNP	ENST00000271227.6	37	CCDS44176.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.603890	0.87157	.	.	ENSG00000143036	ENST00000446120;ENST00000271227;ENST00000467909;ENST00000422520	T;T;T;T	0.79749	-1.3;-1.3;2.71;-1.3	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000008	D	0.84257	0.5432	L	0.59436	1.845	0.80722	D	1	P;D	0.63880	0.886;0.993	P;D	0.70227	0.53;0.968	D	0.84023	0.0355	10	0.40728	T	0.16	-12.7363	15.597	0.76590	1.0:0.0:0.0:0.0	.	88;124	Q8N4M1-3;Q8N4M1	.;CTL3_HUMAN	R	88;124;76;76	ENSP00000389143:Q88R;ENSP00000271227:Q124R;ENSP00000432789:Q76R;ENSP00000410832:Q76R	ENSP00000271227:Q124R	Q	+	2	0	SLC44A3	95065743	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.458000	0.73509	2.221000	0.72209	0.533000	0.62120	CAG		0.512	SLC44A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029544.3	NM_152369	
SLC44A3	126969	broad.mit.edu	37	1	95357932	95357932	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:95357932delT	ENST00000271227.6	+	14	1818	c.1716delT	c.(1714-1716)gctfs	p.A572fs	SLC44A3_ENST00000467909.1_Frame_Shift_Del_p.A524fs|SLC44A3_ENST00000532427.1_Frame_Shift_Del_p.A492fs|SLC44A3_ENST00000527077.1_Frame_Shift_Del_p.A504fs|SLC44A3_ENST00000529450.1_Frame_Shift_Del_p.A539fs|SLC44A3_ENST00000446120.2_Frame_Shift_Del_p.A536fs	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	572					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F526fs*4(1)|p.A575fs*7(1)|p.A527fs*7(1)|p.F574fs*4(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	TATTGGTAGCTTTTTTTGCCT	0.423																																					p.A572fs												.	.	4	Deletion - Frameshift(2)|Insertion - Frameshift(2)	large_intestine(4)	c.1716delT	1						.						291.0	283.0	286.0					1																	95357932		2203	4300	6503	95130520	SO:0001589	frameshift_variant	126969	exon14			BC033858	CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1	1p22.1	2013-05-22	2005-09-06		ENSG00000143036	ENSG00000143036		"""Solute carriers"""	28689	protein-coding gene	gene with protein product			"""solute carrier family, member 3"""			15715662, 12975309	Standard	NM_001114106		Approved	MGC45474, CTL3	uc001dqv.5	Q8N4M1	OTTHUMG00000010700	ENST00000271227.6:c.1716delT	1.37:g.95357932delT	ENSP00000271227:p.Ala572fs		95130520	NM_001114106	B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7	Frame_Shift_Del	DEL	ENST00000271227.6	37	CCDS44176.1																																																																																				0.423	SLC44A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029544.3	NM_152369	
FRRS1	391059	broad.mit.edu	37	1	100174631	100174631	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:100174631T>A	ENST00000414213.1	-	17	2333	c.1732A>T	c.(1732-1734)Aat>Tat	p.N578Y	FRRS1_ENST00000492943.1_5'Flank|FRRS1_ENST00000287474.5_Silent_p.G568G			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	578						integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)	p.G568G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		AAAGTAACATTCCCACAGACA	0.338																																					p.G568G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1704T	1						.						69.0	70.0	69.0					1																	100174631		2203	4300	6503	99947219	SO:0001583	missense	391059	exon17			AK131302	CCDS30780.1	1p21.3	2009-11-30	2006-02-22	2006-02-22	ENSG00000156869	ENSG00000156869			27622	protein-coding gene	gene with protein product		611578	"""stromal cell derived factor receptor 2 homolog (mouse)"""	SDFR2			Standard	NM_001013660		Approved	SDR2	uc001dsh.1	Q6ZNA5	OTTHUMG00000010768	ENST00000414213.1:c.1732A>T	1.37:g.100174631T>A	ENSP00000393884:p.Asn578Tyr		99947219	NM_001013660	A6NLN7	Silent	SNP	ENST00000414213.1	37		.	.	.	.	.	.	.	.	.	.	T	22.3	4.268354	0.80469	.	.	ENSG00000156869	ENST00000414213	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	T	0.70263	0.3204	.	.	.	0.54753	D	0.999987	.	.	.	.	.	.	T	0.75465	-0.3308	5	0.87932	D	0	-0.5343	15.5061	0.75743	0.0:0.0:0.0:1.0	.	.	.	.	Y	578	.	ENSP00000393884:N578Y	N	-	1	0	FRRS1	99947219	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.963000	0.70372	2.139000	0.66308	0.455000	0.32223	AAT		0.338	FRRS1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001013660	
SF3B4	10262	broad.mit.edu	37	1	149895562	149895562	+	Frame_Shift_Del	DEL	G	G	-	rs387907187		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:149895562delG	ENST00000271628.8	-	6	1731	c.1147delC	c.(1147-1149)catfs	p.H383fs		NM_005850.4	NP_005841.1	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4, 49kDa	383					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.H383fs*>43(1)|p.H383fs*>42(1)		endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GTGTATCCATGGGGGGGCATC	0.622																																					p.H383fs												.	.	2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	large_intestine(2)	c.1147delC	1						.						19.0	23.0	21.0					1																	149895562		2203	4297	6500	148162186	SO:0001589	frameshift_variant	10262	exon6			L35013	CCDS72900.1	1q21.2	2013-02-12	2002-08-29		ENSG00000143368	ENSG00000143368		"""RNA binding motif (RRM) containing"""	10771	protein-coding gene	gene with protein product		605593	"""splicing factor 3b, subunit 4, 49kD"""			7958871	Standard	NM_005850		Approved	SAP49, SF3b49, Hsh49	uc001etk.2	Q15427	OTTHUMG00000012208	ENST00000271628.8:c.1147delC	1.37:g.149895562delG	ENSP00000271628:p.His383fs		148162186	NM_005850	Q5SZ63	Frame_Shift_Del	DEL	ENST00000271628.8	37	CCDS941.1																																																																																				0.622	SF3B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033753.1	NM_005850	
FCRL5	83416	broad.mit.edu	37	1	157494190	157494190	+	Frame_Shift_Del	DEL	G	G	-	rs375237721		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:157494190delG	ENST00000361835.3	-	10	2275	c.2118delC	c.(2116-2118)cccfs	p.P706fs	FCRL5_ENST00000461387.1_5'Flank|FCRL5_ENST00000368190.3_Frame_Shift_Del_p.P706fs|FCRL5_ENST00000368191.3_Frame_Shift_Del_p.P621fs|FCRL5_ENST00000356953.4_Frame_Shift_Del_p.P706fs	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	706	Ig-like C2-type 7.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.S707fs*11(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CTCCTCCAGAGGGGGCTGAGA	0.557																																					p.P706fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2118delC	1						.						68.0	75.0	73.0					1																	157494190		2203	4300	6503	155760814	SO:0001589	frameshift_variant	83416	exon10			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.2118delC	1.37:g.157494190delG	ENSP00000354691:p.Pro706fs		155760814	NM_031281	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Frame_Shift_Del	DEL	ENST00000361835.3	37	CCDS1165.1																																																																																				0.557	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281	
LINC00303	284573	broad.mit.edu	37	1	204006616	204006616	+	lincRNA	SNP	G	G	T	rs558656176	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:204006616G>T	ENST00000367207.3	-	0	404							Q3SY05	CA157_HUMAN	long intergenic non-protein coding RNA 303																		GTCAGGGGAGGCAACGTTGTC	0.607																																					.												.	.	0			.	1						.						101.0	115.0	110.0					1																	204006616		2164	4272	6436	202273239			284573	.			AK097662		1q32.1	2012-10-12	2011-08-10	2011-08-10	ENSG00000176754	ENSG00000176754		"""Long non-coding RNAs"""	26865	non-coding RNA	RNA, long non-coding			"""chromosome 1 open reading frame 157"", ""non-protein coding RNA 303"""	C1orf157, NCRNA00303			Standard	NR_027902		Approved	FLJ40343	uc010pqo.1	Q3SY05	OTTHUMG00000036054		1.37:g.204006616G>T			202273239	.	Q3SY06|Q8N7U1	Missense_Mutation	SNP	ENST00000367207.3	37																																																																																					0.607	LINC00303-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000087885.3	NR_027902	
PLEKHA6	22874	broad.mit.edu	37	1	204228411	204228411	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:204228411delC	ENST00000272203.3	-	8	1298	c.982delG	c.(982-984)gtafs	p.V328fs	PLEKHA6_ENST00000485632.1_5'Flank|PLEKHA6_ENST00000414478.1_Frame_Shift_Del_p.V348fs	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	328	Pro-rich.							p.V328fs*172(2)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GGCGGGGGTACCCCCCGGCGC	0.622																																					p.V328fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.982delG	1						.						43.0	47.0	46.0					1																	204228411		2203	4300	6503	202495034	SO:0001589	frameshift_variant	22874	exon8			AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.982delG	1.37:g.204228411delC	ENSP00000272203:p.Val328fs		202495034	NM_014935	A7MD51|Q5VTI6	Frame_Shift_Del	DEL	ENST00000272203.3	37	CCDS1444.1																																																																																				0.622	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935	
ARV1	64801	broad.mit.edu	37	1	231131567	231131567	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	-	A	-	Unknown	Valid	Germline	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:231131567delA	ENST00000310256.2	+	4	567	c.510delA	c.(508-510)gcafs	p.A170fs	ARV1_ENST00000497753.1_3'UTR|ARV1_ENST00000366658.2_Frame_Shift_Del_p.A130fs	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN	ARV1 homolog (S. cerevisiae)	170					bile acid metabolic process (GO:0008206)|cholesterol transport (GO:0030301)|regulation of cholesterol metabolic process (GO:0090181)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		CCATGACGGCAAAAAAAAAGC	0.383																																					p.A170fs												.	.	0			c.510delA	1						.						81.0	79.0	80.0					1																	231131567		2203	4300	6503	229198190	SO:0001589	frameshift_variant	64801	exon4			AF271780	CCDS1589.1	1q42.2	2014-02-03	2006-04-04		ENSG00000173409	ENSG00000173409			29561	protein-coding gene	gene with protein product		611647	"""ARV1 homolog (yeast)"""			11063737, 12145310, 20663892	Standard	NM_022786		Approved		uc001huh.3	Q9H2C2	OTTHUMG00000037837	ENST00000310256.2:c.510delA	1.37:g.231131567delA	ENSP00000312458:p.Ala170fs		229198190	NM_022786	A8KAI4|Q5VSN7|Q5VSN8|Q5VSN9|Q5VSP0|Q5VSP2|Q9H2H2|Q9H5V6|Q9UFF5	Frame_Shift_Del	DEL	ENST00000310256.2	37	CCDS1589.1																																																																																				0.383	ARV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092362.2	NM_022786	
OR2W3	343171	broad.mit.edu	37	1	248059733	248059733	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:248059733delC	ENST00000360358.3	+	1	845	c.845delC	c.(844-846)accfs	p.T282fs	OR2W3_ENST00000537741.1_Frame_Shift_Del_p.T282fs	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L284fs*14(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AACATTGTCACCCCCCTCCTC	0.507																																					p.T282fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.845delC	1						.						74.0	70.0	71.0					1																	248059733		2203	4300	6503	246126356	SO:0001589	frameshift_variant	343171	exon1			N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.845delC	1.37:g.248059733delC	ENSP00000353516:p.Thr282fs		246126356	NM_001001957	Q6IF06|Q8NG86	Frame_Shift_Del	DEL	ENST00000360358.3	37	CCDS31099.1																																																																																				0.507	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957	
OR2T2	401992	broad.mit.edu	37	1	248616301	248616301	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr1:248616301C>T	ENST00000342927.3	+	1	225	c.203C>T	c.(202-204)tCc>tTc	p.S68F		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S68F(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	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)			AGCCAGCTCTCCATCATGGAT	0.512																																					p.S68F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C203T	1						.						123.0	135.0	131.0					1																	248616301		2202	4281	6483	246682924	SO:0001583	missense	401992	exon1			BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.203C>T	1.37:g.248616301C>T	ENSP00000343062:p.Ser68Phe		246682924	NM_001004136	B2RNM1|B9EH01	Missense_Mutation	SNP	ENST00000342927.3	37	CCDS31116.1	.	.	.	.	.	.	.	.	.	.	c	16.21	3.057978	0.55325	.	.	ENSG00000196240	ENST00000342927	T	0.12361	2.69	3.24	3.24	0.37175	GPCR, rhodopsin-like superfamily (1);	0.143992	0.32503	N	0.006020	T	0.46190	0.1380	M	0.94021	3.485	0.33435	D	0.58158	D	0.76494	0.999	D	0.85130	0.997	T	0.70457	-0.4866	10	0.87932	D	0	.	13.5084	0.61497	0.0:1.0:0.0:0.0	.	68	Q6IF00	OR2T2_HUMAN	F	68	ENSP00000343062:S68F	ENSP00000343062:S68F	S	+	2	0	OR2T2	246682924	0.010000	0.17322	0.979000	0.43373	0.814000	0.46013	2.547000	0.45786	1.676000	0.50930	0.289000	0.19496	TCC		0.512	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136	
PSMF1	9491	broad.mit.edu	37	20	1106274	1106274	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:1106274G>T	ENST00000335877.6	+	2	439	c.263G>T	c.(262-264)aGc>aTc	p.S88I	PSMF1_ENST00000246015.4_Missense_Mutation_p.S88I|PSMF1_ENST00000438768.2_Missense_Mutation_p.S88I|PSMF1_ENST00000333082.3_Missense_Mutation_p.S88I|PSMF1_ENST00000381898.4_5'UTR	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	88	Important for homodimerization and interaction with FBXO7.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteasomal protein catabolic process (GO:1901799)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome core complex (GO:0005839)	endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)	p.S88I(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						GTGGAGAGCAGCATGATCCTC	0.493																																					p.S88I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G263T	20						.						120.0	99.0	107.0					20																	1106274		2203	4300	6503	1054274	SO:0001583	missense	9491	exon2			D88378	CCDS13010.1	20p13	2008-07-02			ENSG00000125818	ENSG00000125818		"""Proteasome (prosome, macropain) subunits"""	9571	protein-coding gene	gene with protein product	"""proteasome inhibitor hP131 subunit"""					10363639	Standard	NM_006814		Approved	PI31	uc002wen.4	Q92530	OTTHUMG00000031656	ENST00000335877.6:c.263G>T	20.37:g.1106274G>T	ENSP00000338039:p.Ser88Ile		1054274	NM_006814	A0AVQ9|D3DVW3|Q9H4I1	Missense_Mutation	SNP	ENST00000335877.6	37	CCDS13010.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764241	0.69878	.	.	ENSG00000125818	ENST00000333082;ENST00000381899;ENST00000246015;ENST00000335877;ENST00000438768	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	4.93	4.93	0.64822	.	0.103295	0.64402	D	0.000005	T	0.59959	0.2232	L	0.53249	1.67	0.80722	D	1	D;D;D	0.65815	0.995;0.995;0.995	P;P;P	0.60886	0.83;0.88;0.817	T	0.58092	-0.7697	10	0.41790	T	0.15	-15.4812	15.1704	0.72869	0.0:0.0:1.0:0.0	.	88;88;88	E7ER20;Q5QPM7;Q92530	.;.;PSMF1_HUMAN	I	88	ENSP00000327704:S88I;ENSP00000371324:S88I;ENSP00000246015:S88I;ENSP00000338039:S88I;ENSP00000401404:S88I	ENSP00000246015:S88I	S	+	2	0	PSMF1	1054274	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	3.246000	0.51414	2.562000	0.86427	0.585000	0.79938	AGC		0.493	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077504.2	NM_178578	
SNPH	9751	broad.mit.edu	37	20	1281257	1281257	+	Silent	SNP	G	G	A	rs372417908		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:1281257G>A	ENST00000381873.3	+	5	446	c.210G>A	c.(208-210)ccG>ccA	p.P70P	SNPH_ENST00000381867.1_Silent_p.P114P	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin	70					brain development (GO:0007420)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|synaptic vesicle docking involved in exocytosis (GO:0016081)	cell junction (GO:0030054)|cytoplasmic microtubule (GO:0005881)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)	syntaxin-1 binding (GO:0017075)	p.P114P(1)|p.P70P(1)		endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TCAAGCCCCCGACCCCGGAGC	0.632																																					p.P70P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G210A	20						.						55.0	49.0	51.0					20																	1281257		2203	4300	6503	1229257	SO:0001819	synonymous_variant	9751	exon5				CCDS13012.1	20p13	2008-07-02			ENSG00000101298	ENSG00000101298			15931	protein-coding gene	gene with protein product		604942				10707983	Standard	NM_014723		Approved	bA314N13.5	uc002wes.3	O15079	OTTHUMG00000031662	ENST00000381873.3:c.210G>A	20.37:g.1281257G>A			1229257	NM_014723	Q8IYI3	Silent	SNP	ENST00000381873.3	37	CCDS13012.1																																																																																				0.632	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145240.2	NM_014723	
TASP1	55617	broad.mit.edu	37	20	13371019	13371019	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:13371019G>A	ENST00000337743.4	-	14	1371	c.1251C>T	c.(1249-1251)agC>agT	p.S417S	TASP1_ENST00000480436.1_5'UTR|TASP1_ENST00000539805.1_Intron	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	417					positive regulation of transcription, DNA-templated (GO:0045893)		threonine-type endopeptidase activity (GO:0004298)	p.S417S(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						AGTTCACTGGGCTCTCCAGGC	0.517																																					p.S417S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1251T	20						.						68.0	53.0	58.0					20																	13371019		2203	4300	6503	13319019	SO:0001819	synonymous_variant	55617	exon14			AK000219	CCDS13116.1	20p12	2005-10-15	2005-10-15	2005-10-15	ENSG00000089123	ENSG00000089123	3.4.25.-		15859	protein-coding gene	gene with protein product		608270	"""chromosome 20 open reading frame 13"""	C20orf13		14636557	Standard	XR_430268		Approved	FLJ20212, dJ585I14.2	uc002woi.3	Q9H6P5	OTTHUMG00000031904	ENST00000337743.4:c.1251C>T	20.37:g.13371019G>A			13319019	NM_017714	B7Z690|B7Z963|Q5TDU9|Q9BQN0|Q9NQ08|Q9NTS6|Q9NXJ2	Silent	SNP	ENST00000337743.4	37	CCDS13116.1																																																																																				0.517	TASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078041.2	NM_017714	
TASP1	55617	broad.mit.edu	37	20	13539709	13539709	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:13539709T>C	ENST00000337743.4	-	8	741	c.621A>G	c.(619-621)gaA>gaG	p.E207E	TASP1_ENST00000480436.1_5'UTR|TASP1_ENST00000539805.1_Intron	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	207					positive regulation of transcription, DNA-templated (GO:0045893)		threonine-type endopeptidase activity (GO:0004298)	p.E207E(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						TGTCCACCCTTTCTGCCAGCT	0.284																																					p.E207E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A621G	20						.						168.0	165.0	166.0					20																	13539709		2203	4300	6503	13487709	SO:0001819	synonymous_variant	55617	exon8			AK000219	CCDS13116.1	20p12	2005-10-15	2005-10-15	2005-10-15	ENSG00000089123	ENSG00000089123	3.4.25.-		15859	protein-coding gene	gene with protein product		608270	"""chromosome 20 open reading frame 13"""	C20orf13		14636557	Standard	XR_430268		Approved	FLJ20212, dJ585I14.2	uc002woi.3	Q9H6P5	OTTHUMG00000031904	ENST00000337743.4:c.621A>G	20.37:g.13539709T>C			13487709	NM_017714	B7Z690|B7Z963|Q5TDU9|Q9BQN0|Q9NQ08|Q9NTS6|Q9NXJ2	Silent	SNP	ENST00000337743.4	37	CCDS13116.1																																																																																				0.284	TASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078041.2	NM_017714	
PDYN	5173	broad.mit.edu	37	20	1961062	1961062	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:1961062C>T	ENST00000217305.2	-	4	897	c.672G>A	c.(670-672)aaG>aaA	p.K224K	PDYN_ENST00000539905.1_Silent_p.K224K|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Silent_p.K224K	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	224					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.K224K(1)|p.K224N(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CGCCATAGCGCTTCTGGTTGT	0.567																																					p.K224K												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	c.G672A	20						.						101.0	110.0	107.0					20																	1961062		2203	4300	6503	1909062	SO:0001819	synonymous_variant	5173	exon3				CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"""Endogenous ligands"""	8820	protein-coding gene	gene with protein product	"""preproenkephalin B"", ""rimorphin"", ""beta-neoendorphin"", ""dynorphin"", ""leu-enkephalin"", ""leumorphin"", ""neoendorphin-dynorphin-enkephalin prepropeptide"""	131340	"""spinocerebellar ataxia 23"""	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.672G>A	20.37:g.1961062C>T			1909062	NM_001190892	A8K0Q3	Silent	SNP	ENST00000217305.2	37	CCDS13023.1																																																																																				0.567	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2		
RRBP1	6238	broad.mit.edu	37	20	17595477	17595477	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:17595477C>T	ENST00000377813.1	-	24	4402	c.4099G>A	c.(4099-4101)Gcc>Acc	p.A1367T	RRBP1_ENST00000246043.4_Missense_Mutation_p.A1367T|RRBP1_ENST00000470422.1_5'UTR|RRBP1_ENST00000455029.2_Missense_Mutation_p.A708T|RRBP1_ENST00000360807.4_Missense_Mutation_p.A934T|RRBP1_ENST00000377807.2_Missense_Mutation_p.A934T			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1367					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)	p.A1367T(1)|p.A934T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						AGTCTCGTGGCGGCGCGCCCC	0.582																																					p.A934T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2800A	20						.						107.0	106.0	106.0					20																	17595477		2203	4300	6503	17543477	SO:0001583	missense	6238	exon25			AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.4099G>A	20.37:g.17595477C>T	ENSP00000367044:p.Ala1367Thr		17543477	NM_001042576	A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	ENST00000377813.1	37		.	.	.	.	.	.	.	.	.	.	C	16.55	3.153835	0.57259	.	.	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000455029	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.48	3.52	0.40303	.	0.000000	0.37348	N	0.002136	T	0.45856	0.1363	M	0.65975	2.015	0.44485	D	0.997426	D;P	0.76494	0.999;0.809	P;B	0.62435	0.902;0.086	T	0.34850	-0.9812	10	0.34782	T	0.22	-10.9481	9.8924	0.41298	0.0:0.8386:0.0:0.1614	.	934;1367	Q9P2E9-3;Q9P2E9	.;RRBP1_HUMAN	T	934;1367;934;1367;708	ENSP00000354045:A934T;ENSP00000367044:A1367T;ENSP00000367038:A934T;ENSP00000246043:A1367T;ENSP00000401206:A708T	ENSP00000246043:A1367T	A	-	1	0	RRBP1	17543477	0.998000	0.40836	0.764000	0.31436	0.081000	0.17604	4.088000	0.57678	1.314000	0.45095	0.561000	0.74099	GCC		0.582	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576	
SLC24A3	57419	broad.mit.edu	37	20	19496186	19496186	+	Missense_Mutation	SNP	C	C	T	rs144636987		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:19496186C>T	ENST00000328041.6	+	3	523	c.326C>T	c.(325-327)gCg>gTg	p.A109V		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	109					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.A109V(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AGACAAGGTGCGGTGGTCCTC	0.542																																					p.A109V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C326T	20						.	C	VAL/ALA	0,4406		0,0,2203	253.0	202.0	219.0		326	5.7	0.4	20	dbSNP_134	219	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC24A3	NM_020689.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	109/645	19496186	1,13005	2203	4300	6503	19444186	SO:0001583	missense	57419	exon3			AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"""Solute carriers"""	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.326C>T	20.37:g.19496186C>T	ENSP00000333519:p.Ala109Val		19444186	NM_020689	B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Missense_Mutation	SNP	ENST00000328041.6	37	CCDS13140.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603080	0.66445	0.0	1.16E-4	ENSG00000185052	ENST00000328041	T	0.64991	-0.13	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.58090	0.2098	M	0.64404	1.975	0.49687	D	0.999812	B	0.29909	0.261	B	0.21546	0.035	T	0.55095	-0.8194	9	.	.	.	.	15.334	0.74238	0.0:1.0:0.0:0.0	.	109	Q9HC58	NCKX3_HUMAN	V	109	ENSP00000333519:A109V	.	A	+	2	0	SLC24A3	19444186	0.995000	0.38212	0.369000	0.25952	0.906000	0.53458	4.488000	0.60300	2.700000	0.92200	0.563000	0.77884	GCG		0.542	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4	NM_020689	
TGM3	7053	broad.mit.edu	37	20	2290899	2290899	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:2290899C>T	ENST00000381458.5	+	3	320	c.257C>T	c.(256-258)gCg>gTg	p.A86V		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	86					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)	p.A86V(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GGCTGGAGTGCGGTGCTTCAG	0.557																																					p.A86V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C257T	20						.						122.0	109.0	114.0					20																	2290899		2203	4300	6503	2238899	SO:0001583	missense	7053	exon3			L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.257C>T	20.37:g.2290899C>T	ENSP00000370867:p.Ala86Val		2238899	NM_003245	A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	ENST00000381458.5	37	CCDS33435.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020297	0.93462	.	.	ENSG00000125780	ENST00000381458;ENST00000420960	D	0.86030	-2.06	5.21	5.21	0.72293	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.92401	0.7588	M	0.80332	2.49	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.92987	0.6411	10	0.59425	D	0.04	.	16.2538	0.82501	0.0:1.0:0.0:0.0	.	86	Q08188	TGM3_HUMAN	V	86	ENSP00000370867:A86V	ENSP00000370867:A86V	A	+	2	0	TGM3	2238899	1.000000	0.71417	0.362000	0.25862	0.267000	0.26476	6.346000	0.72999	2.433000	0.82419	0.313000	0.20887	GCG		0.557	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245	
RIN2	54453	broad.mit.edu	37	20	19956307	19956307	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:19956307C>T	ENST00000255006.6	+	8	1934	c.1785C>T	c.(1783-1785)tgC>tgT	p.C595C	RIN2_ENST00000440354.2_Intron|RIN2_ENST00000484638.1_3'UTR	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	546					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)	p.C546C(1)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						ACAAGGAGTGCCACGTGTCCA	0.582																																					p.C546C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1638T	20						.						45.0	50.0	48.0					20																	19956307		2151	4246	6397	19904307	SO:0001819	synonymous_variant	54453	exon7			AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.1785C>T	20.37:g.19956307C>T			19904307	NM_018993	Q00425|Q5TFT8|Q9BQL3|Q9H071	Silent	SNP	ENST00000255006.6	37	CCDS56182.1																																																																																				0.582	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1		
CD93	22918	broad.mit.edu	37	20	23065992	23065992	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:23065992C>T	ENST00000246006.4	-	1	985	c.838G>A	c.(838-840)Gat>Aat	p.D280N		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	280	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)	p.D280N(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					AAGGAGCCATCCCCCCCTTCA	0.627																																					p.D280N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G838A	20						.						76.0	86.0	82.0					20																	23065992		2203	4300	6503	23013992	SO:0001583	missense	22918	exon1			U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.838G>A	20.37:g.23065992C>T	ENSP00000246006:p.Asp280Asn		23013992	NM_012072	O00274	Missense_Mutation	SNP	ENST00000246006.4	37	CCDS13149.1	.	.	.	.	.	.	.	.	.	.	C	2.378	-0.342778	0.05243	.	.	ENSG00000125810	ENST00000246006;ENST00000413585	D	0.87103	-2.21	5.51	4.56	0.56223	Epidermal growth factor-like (1);	0.537681	0.18049	N	0.153371	T	0.75925	0.3916	N	0.20483	0.58	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.58994	-0.7537	10	0.16420	T	0.52	-6.92	10.2865	0.43570	0.0:0.8471:0.0:0.1529	.	280	Q9NPY3	C1QR1_HUMAN	N	280	ENSP00000246006:D280N	ENSP00000246006:D280N	D	-	1	0	CD93	23013992	0.000000	0.05858	0.006000	0.13384	0.183000	0.23260	-0.220000	0.09215	1.432000	0.47375	0.650000	0.86243	GAT		0.627	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072	
CD93	22918	broad.mit.edu	37	20	23066390	23066390	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:23066390T>A	ENST00000246006.4	-	1	587	c.440A>T	c.(439-441)gAc>gTc	p.D147V		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	147	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)	p.D147V(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CTGGGACAGGTCCAGCAGCAG	0.647																																					p.D147V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A440T	20						.						22.0	28.0	26.0					20																	23066390		2203	4300	6503	23014390	SO:0001583	missense	22918	exon1			U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.440A>T	20.37:g.23066390T>A	ENSP00000246006:p.Asp147Val		23014390	NM_012072	O00274	Missense_Mutation	SNP	ENST00000246006.4	37	CCDS13149.1	.	.	.	.	.	.	.	.	.	.	T	17.89	3.500357	0.64298	.	.	ENSG00000125810	ENST00000246006;ENST00000413585	T	0.80738	-1.41	5.38	4.26	0.50523	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.416130	0.22449	N	0.059906	D	0.85314	0.5668	L	0.57536	1.79	0.54753	D	0.999989	D	0.58970	0.984	P	0.62184	0.899	D	0.85210	0.1020	10	0.72032	D	0.01	-45.3476	10.8985	0.47036	0.0:0.0:0.1581:0.8419	.	147	Q9NPY3	C1QR1_HUMAN	V	147	ENSP00000246006:D147V	ENSP00000246006:D147V	D	-	2	0	CD93	23014390	0.030000	0.19436	0.997000	0.53966	0.950000	0.60333	0.897000	0.28390	0.945000	0.37605	0.533000	0.62120	GAC		0.647	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072	
GZF1	64412	broad.mit.edu	37	20	23345612	23345612	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:23345612C>T	ENST00000338121.5	+	2	669	c.592C>T	c.(592-594)Ccg>Tcg	p.P198S	GZF1_ENST00000542987.1_Intron|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000377051.2_Missense_Mutation_p.P198S			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	198					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)	p.P198S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					AGATTTGCCACCGAAGAAGTC	0.532																																					p.P198S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C592T	20						.						48.0	50.0	50.0					20																	23345612		2203	4300	6503	23293612	SO:0001583	missense	64412	exon1			AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.592C>T	20.37:g.23345612C>T	ENSP00000338290:p.Pro198Ser		23293612	NM_022482	A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	ENST00000338121.5	37	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.820732	0.00595	.	.	ENSG00000125812	ENST00000338121;ENST00000377051	T;T	0.08807	3.05;3.05	4.28	1.24	0.21308	.	0.909869	0.09255	N	0.827282	T	0.04048	0.0113	N	0.17082	0.46	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.46345	-0.9198	10	0.06494	T	0.89	.	4.3796	0.11288	0.0:0.4272:0.1788:0.3941	.	198	Q9H116	GZF1_HUMAN	S	198	ENSP00000338290:P198S;ENSP00000366250:P198S	ENSP00000338290:P198S	P	+	1	0	GZF1	23293612	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.639000	0.05446	0.107000	0.17824	0.637000	0.83480	CCG		0.532	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482	
SNRPB	6628	broad.mit.edu	37	20	2448273	2448273	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:2448273A>G	ENST00000438552.2	-	2	297	c.135T>C	c.(133-135)tgT>tgC	p.C45C	SNRPB_ENST00000339610.6_5'UTR|SNRPB_ENST00000381342.2_Silent_p.C45C|RP4-734P14.4_ENST00000461548.1_3'UTR	NM_198216.1	NP_937859.1	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	45					gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	histone pre-mRNA DCP binding (GO:0071208)|poly(A) RNA binding (GO:0044822)	p.C45C(1)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						TGAACTCATCACAGTCACAGA	0.502																																					p.C45C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T135C	20						.						112.0	87.0	96.0					20																	2448273		2203	4300	6503	2396273	SO:0001819	synonymous_variant	6628	exon2				CCDS13026.1, CCDS13027.1	20p13	2011-10-11			ENSG00000125835	ENSG00000125835			11153	protein-coding gene	gene with protein product		182282		SNRPB1		1376292	Standard	NM_003091		Approved	COD, SmB/SmB', Sm-B/B', snRNP-B	uc002wfz.1	P14678	OTTHUMG00000031694	ENST00000438552.2:c.135T>C	20.37:g.2448273A>G			2396273	NM_003091	Q15490|Q6IB35|Q9UIS5	Silent	SNP	ENST00000438552.2	37	CCDS13026.1																																																																																				0.502	SNRPB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077585.2		
GGTLC1	92086	broad.mit.edu	37	20	23966810	23966810	+	Silent	SNP	G	G	A	rs374771718		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:23966810G>A	ENST00000335694.4	-	3	411	c.207C>T	c.(205-207)agC>agT	p.S69S	GGTLC1_ENST00000286890.4_Silent_p.S69S|GGTLC1_ENST00000278765.4_Silent_p.S69S	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	69					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)	gamma-glutamyltransferase activity (GO:0003840)	p.S69S(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						GCAGGATCCCGCTGACTGGGG	0.582													.|||	1	0.000199681	0.0008	0.0	5008	,	,		14200	0.0		0.0	False		,,,				2504	0.0				p.S69S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C207T	20						.	G	,	2,4404	4.2+/-10.8	0,2,2201	93.0	102.0	99.0		207,207	-0.7	0.0	20		99	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GGTLC1	NM_178311.2,NM_178312.2	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	69/226,69/226	23966810	2,13004	2203	4300	6503	23914810	SO:0001819	synonymous_variant	92086	exon3			AL133466	CCDS13163.1	20p11.21	2010-07-14	2008-03-10	2008-03-10	ENSG00000149435	ENSG00000149435		"""Gamma-glutamyltransferases"""	16437	protein-coding gene	gene with protein product		612338	"""gamma-glutamyltransferase-like activity 4"", ""gamma-glutamyltransferase-like activity 3"""	GGTLA4, GGTLA3		10843999, 18357469	Standard	NM_178311		Approved	dJ831C21.2, dJ831C21.1	uc002wtu.3	Q9BX51	OTTHUMG00000032095	ENST00000335694.4:c.207C>T	20.37:g.23966810G>A			23914810	NM_178312	D3DW43|Q08246	Silent	SNP	ENST00000335694.4	37	CCDS13163.1																																																																																				0.582	GGTLC1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078366.2	NM_178311.2	
PYGB	5834	broad.mit.edu	37	20	25276304	25276304	+	Missense_Mutation	SNP	C	C	T	rs202186644	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:25276304C>T	ENST00000216962.4	+	19	2487	c.2377C>T	c.(2377-2379)Cgg>Tgg	p.R793W	ABHD12_ENST00000376542.3_Intron|PYGB_ENST00000471359.1_3'UTR	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	793					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)	p.R793W(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						CCAGCTGTACCGGGTGAGGCT	0.562													C|||	12	0.00239617	0.0	0.0	5008	,	,		19729	0.0		0.0	False		,,,				2504	0.0123				p.R793W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2377T	20						.						69.0	68.0	69.0					20																	25276304		2203	4300	6503	25224304	SO:0001583	missense	5834	exon19				CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.2377C>T	20.37:g.25276304C>T	ENSP00000216962:p.Arg793Trp		25224304	NM_002862	Q96AK1|Q9NPX8	Missense_Mutation	SNP	ENST00000216962.4	37	CCDS13171.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909381	0.72868	.	.	ENSG00000100994	ENST00000216962	D	0.93659	-3.26	4.64	2.53	0.30540	.	0.422239	0.26038	N	0.026720	D	0.93458	0.7913	M	0.83483	2.645	0.80722	D	1	D	0.53619	0.961	P	0.46320	0.512	D	0.93505	0.6848	10	0.87932	D	0	-14.6114	11.1486	0.48444	0.5459:0.4541:0.0:0.0	.	793	P11216	PYGB_HUMAN	W	793	ENSP00000216962:R793W	ENSP00000216962:R793W	R	+	1	2	PYGB	25224304	0.093000	0.21703	0.996000	0.52242	0.963000	0.63663	0.324000	0.19610	1.302000	0.44855	0.561000	0.74099	CGG		0.562	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862	
NRSN2	80023	broad.mit.edu	37	20	334171	334171	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:334171G>A	ENST00000382291.3	+	4	747	c.507G>A	c.(505-507)caG>caA	p.Q169Q	NRSN2_ENST00000608736.1_Intron|NRSN2_ENST00000382285.2_Silent_p.Q169Q|NRSN2_ENST00000492242.1_3'UTR	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	169						integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)		p.Q169Q(1)		endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				CAGAGCAGCAGTTGTCACCCA	0.617																																					p.Q169Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G507A	20						.						128.0	112.0	117.0					20																	334171		2203	4300	6503	282171	SO:0001819	synonymous_variant	80023	exon4			AL136915	CCDS12996.1	20p13	2008-02-04	2006-07-04	2006-07-04	ENSG00000125841	ENSG00000125841			16229	protein-coding gene	gene with protein product		610666	"""chromosome 20 open reading frame 98"""	C20orf98		16527258	Standard	NM_024958		Approved	dJ1103G7.6	uc002wdi.4	Q9GZP1	OTTHUMG00000031628	ENST00000382291.3:c.507G>A	20.37:g.334171G>A			282171	NM_024958	A8K3B2|Q6FII5|Q9NUD3	Silent	SNP	ENST00000382291.3	37	CCDS12996.1																																																																																				0.617	NRSN2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077446.1	NM_024958	
NINL	22981	broad.mit.edu	37	20	25485550	25485550	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:25485550C>T	ENST00000278886.6	-	6	755	c.682G>A	c.(682-684)Gtc>Atc	p.V228I	NINL_ENST00000422516.1_Missense_Mutation_p.V228I	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	228	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)	p.V228I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TGGAGCCCGACGCTCTGGCAG	0.642																																					p.V228I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G682A	20						.						50.0	52.0	51.0					20																	25485550		2203	4300	6503	25433550	SO:0001583	missense	22981	exon6				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.682G>A	20.37:g.25485550C>T	ENSP00000278886:p.Val228Ile		25433550	NM_025176	A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	C	5.027	0.190703	0.09547	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.79653	-1.29;-1.29	5.18	2.92	0.33932	EF-hand-like domain (1);	0.481287	0.20968	N	0.082445	T	0.49695	0.1572	N	0.02286	-0.61	0.21782	N	0.999545	B;B	0.24651	0.01;0.108	B;B	0.18871	0.011;0.023	T	0.44636	-0.9315	10	0.05833	T	0.94	-13.2297	7.53	0.27677	0.0:0.1938:0.0:0.8062	.	228;228	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	I	228	ENSP00000278886:V228I;ENSP00000410431:V228I	ENSP00000278886:V228I	V	-	1	0	NINL	25433550	0.996000	0.38824	0.925000	0.36789	0.928000	0.56348	0.416000	0.21198	0.450000	0.26774	0.655000	0.94253	GTC		0.642	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176	
DEFB119	245932	broad.mit.edu	37	20	29965237	29965237	+	Missense_Mutation	SNP	G	G	A	rs150495779		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:29965237G>A	ENST00000376321.3	-	2	186	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C	DEFB119_ENST00000339144.3_Missense_Mutation_p.T36M|SNORA40_ENST00000390832.1_RNA|DEFB119_ENST00000492344.1_5'UTR	NM_153289.3	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119	23					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.T36M(2)		large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AGGATGTGGCGTTTGCCTGCC	0.428													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20433	0.0		0.0	False		,,,				2504	0.0				p.R23C												.	.	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)	c.C67T	20						.	G	CYS/ARG,MET/THR	1,4405	2.1+/-5.4	0,1,2202	131.0	123.0	126.0		67,107	1.4	0.0	20	dbSNP_134	126	0,8600		0,0,4300	no	missense,missense	DEFB119	NM_153289.2,NM_173460.1	180,81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	23/85,36/44	29965237	1,13005	2203	4300	6503	29428898	SO:0001583	missense	245932	exon2			AA939044	CCDS13178.1, CCDS33455.1	20q11.21	2007-02-19	2003-10-06		ENSG00000180483	ENSG00000180483		"""Defensins, beta"""	18099	protein-coding gene	gene with protein product			"""defensin, beta 120"""	DEFB120		11854508	Standard	NM_153289		Approved	DEFB-19, DEFB-20	uc002wvu.2	Q8N690	OTTHUMG00000032172	ENST00000376321.3:c.67C>T	20.37:g.29965237G>A	ENSP00000365499:p.Arg23Cys		29428898	NM_153289	Q5GRG1|Q5JWP1|Q5TH42|Q8N689	Missense_Mutation	SNP	ENST00000376321.3	37	CCDS13178.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	11.30|11.30	1.598948|1.598948	0.28445|0.28445	2.27E-4|2.27E-4	0.0|0.0	ENSG00000180483|ENSG00000180483	ENST00000376321|ENST00000339144	T|.	0.31510|.	1.49|.	4.46|4.46	1.4|1.4	0.22301|0.22301	.|.	.|.	.|.	.|.	.|.	T|T	0.54095|0.54095	0.1837|0.1837	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	D|D	0.69078|0.89917	0.997|1.0	P|D	0.50754|0.68765	0.649|0.96	T|T	0.39722|0.39722	-0.9600|-0.9600	8|7	0.66056|0.87932	D|D	0.02|0	.|.	3.479|3.479	0.07595|0.07595	0.2108:0.0:0.5788:0.2104|0.2108:0.0:0.5788:0.2104	.|.	23|36	Q8N690|Q5TH42	DB119_HUMAN|.	C|M	23|36	ENSP00000365499:R23C|.	ENSP00000365499:R23C|ENSP00000345768:T36M	R|T	-|-	1|2	0|0	DEFB119|DEFB119	29428898|29428898	0.003000|0.003000	0.15002|0.15002	0.002000|0.002000	0.10522|0.10522	0.002000|0.002000	0.02628|0.02628	0.530000|0.530000	0.23036|0.23036	0.353000|0.353000	0.24079|0.24079	0.655000|0.655000	0.94253|0.94253	CGC|ACG		0.428	DEFB119-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078514.1	NM_153289	
ASXL1	171023	broad.mit.edu	37	20	31019199	31019199	+	Missense_Mutation	SNP	G	G	A	rs144349534		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:31019199G>A	ENST00000375687.4	+	9	1218	c.794G>A	c.(793-795)cGt>cAt	p.R265H	ASXL1_ENST00000306058.5_Missense_Mutation_p.R260H	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	265	Interaction with KDM1A. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.R265H(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						ACCAACCTCCGTGCCCTGATC	0.498			"""F, N, Mis"""		"""MDS, CMML"""																																p.R265H			Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G794A	20						.	G	HIS/ARG	0,4406		0,0,2203	154.0	149.0	151.0		794	5.1	1.0	20	dbSNP_134	151	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ASXL1	NM_015338.5	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	265/1542	31019199	1,13005	2203	4300	6503	30482860	SO:0001583	missense	171023	exon8			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.794G>A	20.37:g.31019199G>A	ENSP00000364839:p.Arg265His		30482860	NM_015338	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.035798	0.93630	0.0	1.16E-4	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058;ENST00000553345	T;T	0.36157	1.29;1.27	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.63628	0.2527	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.67624	-0.5623	10	0.87932	D	0	-13.0042	18.7857	0.91954	0.0:0.0:1.0:0.0	.	260;265	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	H	265;265;265;204;260;37	ENSP00000364839:R265H;ENSP00000305119:R260H	ENSP00000305119:R260H	R	+	2	0	ASXL1	30482860	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	9.222000	0.95196	2.664000	0.90586	0.650000	0.86243	CGT		0.498	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338	
NOL4L	140688	broad.mit.edu	37	20	31041289	31041289	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:31041289G>A	ENST00000359676.5	-	5	725	c.583C>T	c.(583-585)Cgt>Tgt	p.R195C	RP5-1184F4.5_ENST00000442179.1_RNA|C20orf112_ENST00000475781.1_5'UTR	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	NOL4L_HUMAN		195						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R195C(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						ACAAAGAGACGCACAAACATC	0.627																																					p.R195C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C583T	20						.						115.0	103.0	107.0					20																	31041289		2203	4300	6503	30504950	SO:0001583	missense	140688	exon5																														ENST00000359676.5:c.583C>T	20.37:g.31041289G>A	ENSP00000352704:p.Arg195Cys		30504950	NM_080616	Q5JYB7|Q6P0Y4|Q9BR34|Q9NQF6	Missense_Mutation	SNP	ENST00000359676.5	37	CCDS13202.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.929765	0.92389	.	.	ENSG00000197183	ENST00000359676;ENST00000397984	D	0.82255	-1.59	4.51	4.51	0.55191	.	0.055135	0.85682	D	0.000000	D	0.90573	0.7045	M	0.75085	2.285	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.91970	0.5586	10	0.87932	D	0	-19.531	16.9932	0.86359	0.0:0.0:1.0:0.0	.	195	Q96MY1	CT112_HUMAN	C	195	ENSP00000352704:R195C	ENSP00000352704:R195C	R	-	1	0	C20orf112	30504950	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.263000	0.95617	2.330000	0.79161	0.561000	0.74099	CGT		0.627	C20orf112-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078628.2		
NCOA6	23054	broad.mit.edu	37	20	33328467	33328467	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:33328467T>C	ENST00000374796.2	-	12	8163	c.5593A>G	c.(5593-5595)Atg>Gtg	p.M1865V	NCOA6_ENST00000359003.2_Missense_Mutation_p.M1865V			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1865	EP300/CRSP3-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.M1865V(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TCTGTTCCCATGAGCCCCGGA	0.542																																					p.M1865V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5593G	20						.						107.0	109.0	108.0					20																	33328467		2203	4300	6503	32792128	SO:0001583	missense	23054	exon11			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.5593A>G	20.37:g.33328467T>C	ENSP00000363929:p.Met1865Val		32792128	NM_014071	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.452371	0.00175	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.19105	2.17;2.17	5.65	-11.1	0.00147	.	0.702309	0.14508	N	0.315330	T	0.05364	0.0142	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17349	-1.0372	10	0.12766	T	0.61	4.3255	5.1706	0.15108	0.2452:0.4541:0.0779:0.2227	.	1865	Q14686	NCOA6_HUMAN	V	1865	ENSP00000363929:M1865V;ENSP00000351894:M1865V	ENSP00000351894:M1865V	M	-	1	0	NCOA6	32792128	0.095000	0.21747	0.053000	0.19242	0.143000	0.21401	-0.885000	0.04161	-2.120000	0.00826	-1.709000	0.00716	ATG		0.542	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071	
EDEM2	55741	broad.mit.edu	37	20	33703664	33703664	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:33703664G>T	ENST00000374492.3	-	11	1414	c.1309C>A	c.(1309-1311)Ctc>Atc	p.L437I	SNORD56_ENST00000364281.1_RNA|EDEM2_ENST00000374491.3_Missense_Mutation_p.L400I|EDEM2_ENST00000542871.1_Missense_Mutation_p.L161I|EDEM2_ENST00000541621.1_Missense_Mutation_p.L216I	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	437					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.L437I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			AGGAGGTAGAGGTATTTCACA	0.557																																					p.L437I	Esophageal Squamous(51;906 1021 24535 36410 39145)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1309A	20						.						70.0	66.0	67.0					20																	33703664		2203	4300	6503	33167325	SO:0001583	missense	55741	exon11			AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"""chromosome 20 open reading frame 31"""	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.1309C>A	20.37:g.33703664G>T	ENSP00000363616:p.Leu437Ile		33167325	NM_018217	B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Missense_Mutation	SNP	ENST00000374492.3	37	CCDS13247.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.666513	0.88251	.	.	ENSG00000088298	ENST00000374491;ENST00000374492;ENST00000541621;ENST00000542871	T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95	5.51	5.51	0.81932	.	0.056008	0.64402	D	0.000001	D	0.88702	0.6508	M	0.93016	3.37	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.90410	0.4409	10	0.87932	D	0	-19.7079	13.2633	0.60117	0.0812:0.0:0.9188:0.0	.	216;400;437	G3V1Q0;Q9BV94-2;Q9BV94	.;.;EDEM2_HUMAN	I	400;437;216;161	ENSP00000363615:L400I;ENSP00000363616:L437I;ENSP00000443528:L216I;ENSP00000441642:L161I	ENSP00000363615:L400I	L	-	1	0	EDEM2	33167325	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.225000	0.65294	2.873000	0.98535	0.561000	0.74099	CTC		0.557	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078842.2	NM_018217	
CEP250	11190	broad.mit.edu	37	20	34054847	34054847	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:34054847G>A	ENST00000397527.1	+	8	1269	c.549G>A	c.(547-549)gaG>gaA	p.E183E	CEP250_ENST00000397524.1_Silent_p.E183E|CEP250_ENST00000342580.4_Silent_p.E183E	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	183					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.E183E(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TATGGCGGGAGGTTGTGACAT	0.542																																					p.E183E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G549A	20						.						85.0	76.0	79.0					20																	34054847		2203	4300	6503	33518261	SO:0001819	synonymous_variant	11190	exon8			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.549G>A	20.37:g.34054847G>A			33518261	NM_007186	E1P5Q3|O14812|O60588|Q9H450	Silent	SNP	ENST00000397527.1	37	CCDS13255.1																																																																																				0.542	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186	
CPNE1	8904	broad.mit.edu	37	20	34220551	34220551	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:34220551T>C	ENST00000317619.3	-	5	591	c.197A>G	c.(196-198)tAc>tGc	p.Y66C	RP1-309K20.6_ENST00000541176.2_3'UTR|CPNE1_ENST00000397443.1_Missense_Mutation_p.Y66C|CPNE1_ENST00000397445.1_Missense_Mutation_p.Y66C|CPNE1_ENST00000352393.4_Missense_Mutation_p.Y66C|CPNE1_ENST00000397442.1_Missense_Mutation_p.Y66C|CPNE1_ENST00000397446.1_Missense_Mutation_p.Y66C|CPNE1_ENST00000317677.5_Missense_Mutation_p.Y71C			Q99829	CPNE1_HUMAN	copine I	66	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid metabolic process (GO:0006629)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.Y66C(1)		breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CTCAAAGCGGTACTCAAGCTG	0.537																																					p.Y66C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A197G	20						.						153.0	142.0	146.0					20																	34220551		2203	4300	6503	33683965	SO:0001583	missense	8904	exon4			U83246	CCDS13260.1, CCDS46595.1	20q11.22	2009-06-01			ENSG00000214078	ENSG00000214078			2314	protein-coding gene	gene with protein product		604205				9430674	Standard	NM_152925		Approved	CPN1	uc002xdm.3	Q99829	OTTHUMG00000032356	ENST00000317619.3:c.197A>G	20.37:g.34220551T>C	ENSP00000326126:p.Tyr66Cys		33683965	NM_152927	E1P5Q4|Q6IBL3|Q9H243|Q9NTZ7	Missense_Mutation	SNP	ENST00000317619.3	37	CCDS13260.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.189889	0.78789	.	.	ENSG00000214078	ENST00000352393;ENST00000317677;ENST00000317619;ENST00000397446;ENST00000397445;ENST00000397443;ENST00000397442;ENST00000437340;ENST00000430570;ENST00000412056;ENST00000414664;ENST00000416778;ENST00000439806;ENST00000420363;ENST00000434795;ENST00000440240;ENST00000458038;ENST00000437100;ENST00000414711;ENST00000435747	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.64085	1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;-0.08	5.25	5.25	0.73442	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	U	0.000001	D	0.85813	0.5784	H	0.96970	3.915	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.998;1.0;1.0;1.0	D	0.90578	0.4527	10	0.87932	D	0	-5.2639	14.9826	0.71321	0.0:0.0:0.0:1.0	.	71;66;66;66;70	B0QZ18;E7ENH5;A6PVH9;Q99829;Q59EI4	.;.;.;CPNE1_HUMAN;.	C	66;71;66;66;66;66;66;66;66;66;66;66;66;66;66;66;66;66;66;66	ENSP00000336945:Y66C;ENSP00000317257:Y71C;ENSP00000326126:Y66C;ENSP00000380588:Y66C;ENSP00000380587:Y66C;ENSP00000380585:Y66C;ENSP00000380584:Y66C;ENSP00000415597:Y66C;ENSP00000390626:Y66C;ENSP00000416962:Y66C;ENSP00000404355:Y66C;ENSP00000389662:Y66C;ENSP00000387434:Y66C;ENSP00000401915:Y66C;ENSP00000409794:Y66C;ENSP00000397638:Y66C;ENSP00000390141:Y66C;ENSP00000391483:Y66C;ENSP00000409955:Y66C;ENSP00000412806:Y66C	ENSP00000326126:Y66C	Y	-	2	0	CPNE1	33683965	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.746000	0.85057	2.205000	0.71048	0.528000	0.53228	TAC		0.537	CPNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078909.3	NM_152930	
EPB41L1	2036	broad.mit.edu	37	20	34778692	34778692	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:34778692T>C	ENST00000338074.2	+	11	1434	c.1273T>C	c.(1273-1275)Tac>Cac	p.Y425H	EPB41L1_ENST00000441639.1_Missense_Mutation_p.Y363H|EPB41L1_ENST00000373941.1_Missense_Mutation_p.Y425H|EPB41L1_ENST00000373950.2_Missense_Mutation_p.Y328H|EPB41L1_ENST00000202028.5_Missense_Mutation_p.Y363H|EPB41L1_ENST00000373946.3_Missense_Mutation_p.Y394H	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	425					cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.Y425H(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CAGCAAACGGTACACCATGTC	0.612																																					p.Y425H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1273C	20						.						57.0	50.0	52.0					20																	34778692		2203	4300	6503	34242106	SO:0001583	missense	2036	exon11			AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.1273T>C	20.37:g.34778692T>C	ENSP00000337168:p.Tyr425His		34242106	NM_012156	O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	ENST00000338074.2	37	CCDS13271.1	.	.	.	.	.	.	.	.	.	.	T	18.34	3.602568	0.66445	.	.	ENSG00000088367	ENST00000202028;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000338074;ENST00000373941	D;D;D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22;-2.22;-2.22	5.48	5.48	0.80851	FERM adjacent (FA) (1);	.	.	.	.	D	0.85461	0.5702	L	0.38733	1.17	0.49389	D	0.999783	B;P;B;B;B;B	0.46784	0.197;0.884;0.011;0.181;0.108;0.164	B;P;B;B;B;B	0.48063	0.223;0.565;0.039;0.189;0.127;0.159	D	0.86401	0.1742	9	0.52906	T	0.07	.	14.4057	0.67081	0.0:0.0:0.0:1.0	.	425;425;394;328;328;363	B7Z653;Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2	.;E41L1_HUMAN;.;.;.;.	H	363;328;425;328;363;394;425;425	ENSP00000202028:Y363H;ENSP00000363061:Y328H;ENSP00000399214:Y363H;ENSP00000363057:Y394H;ENSP00000337168:Y425H;ENSP00000363052:Y425H	ENSP00000202028:Y363H	Y	+	1	0	EPB41L1	34242106	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.131000	0.64751	2.068000	0.61886	0.459000	0.35465	TAC		0.612	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156	
ADAM33	80332	broad.mit.edu	37	20	3654770	3654770	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:3654770G>A	ENST00000356518.2	-	8	920	c.679C>T	c.(679-681)Cac>Tac	p.H227Y	ADAM33_ENST00000379861.4_Missense_Mutation_p.H227Y|ADAM33_ENST00000466620.1_5'Flank|ADAM33_ENST00000350009.2_Missense_Mutation_p.H227Y	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	227	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.H227Y(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						AAGTTTCGGTGCCGAGTCAAG	0.652																																					p.H227Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C679T	20						.						95.0	99.0	98.0					20																	3654770		2203	4300	6503	3602770	SO:0001583	missense	80332	exon8			AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"""ADAM metallopeptidase domain containing"""	15478	protein-coding gene	gene with protein product		607114	"""a disintegrin and metalloproteinase domain 33"", ""chromosome 20 open reading frame 153"""	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.679C>T	20.37:g.3654770G>A	ENSP00000348912:p.His227Tyr		3602770	NM_025220	A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Missense_Mutation	SNP	ENST00000356518.2	37	CCDS13058.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311797	0.23821	.	.	ENSG00000149451	ENST00000356518;ENST00000379861;ENST00000350009;ENST00000360630;ENST00000439201;ENST00000322570	T;T;T	0.17054	2.3;2.3;2.3	5.84	4.87	0.63330	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	T	0.26122	0.0637	L	0.42581	1.335	0.09310	N	1	D;B;P;B;B;B	0.57571	0.98;0.449;0.602;0.111;0.136;0.136	P;B;B;B;B;B	0.58130	0.833;0.341;0.378;0.098;0.158;0.158	T	0.08006	-1.0743	9	0.27785	T	0.31	.	9.8504	0.41053	0.0:0.2823:0.5721:0.1457	.	227;239;150;227;227;227	B4DTZ3;B4E1Y6;Q7Z7E1;Q9BZ11-2;Q9BZ11;A2A2L3	.;.;.;.;ADA33_HUMAN;.	Y	227;227;227;150;227;150	ENSP00000348912:H227Y;ENSP00000369190:H227Y;ENSP00000322550:H227Y	ENSP00000318839:H150Y	H	-	1	0	ADAM33	3602770	0.002000	0.14202	0.619000	0.29118	0.181000	0.23173	0.449000	0.21744	1.417000	0.47077	0.563000	0.77884	CAC		0.652	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220	
TLDC2	140711	broad.mit.edu	37	20	35507473	35507473	+	Silent	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:35507473C>A	ENST00000217320.3	+	3	263	c.219C>A	c.(217-219)acC>acA	p.T73T	TLDC2_ENST00000602922.1_Silent_p.T73T	NM_080628.1	NP_542195.1	A0PJX2	TLDC2_HUMAN	TBC/LysM-associated domain containing 2	73								p.T73T(1)									CAAGAGTCACCGGCCATCCCT	0.632																																					p.T73T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C219A	20						.						123.0	96.0	105.0					20																	35507473		2203	4300	6503	34940887	SO:0001819	synonymous_variant	140711	exon3			AL079335	CCDS33465.1	20q11.23	2013-03-14	2013-03-14	2013-03-14	ENSG00000101342	ENSG00000101342			16112	protein-coding gene	gene with protein product	"""hypothetical protein LOC140711"", ""TLD domain containing 2"""		"""chromosome 20 open reading frame 118"""	C20orf118			Standard	NM_080628		Approved	dJ132F21.2	uc002xgg.1	A0PJX2	OTTHUMG00000032400	ENST00000217320.3:c.219C>A	20.37:g.35507473C>A			34940887	NM_080628	B3KVU8	Silent	SNP	ENST00000217320.3	37	CCDS33465.1																																																																																				0.632	TLDC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079060.2	NM_080628	
TGM2	7052	broad.mit.edu	37	20	36766732	36766732	+	Silent	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:36766732G>T	ENST00000361475.2	-	10	1571	c.1398C>A	c.(1396-1398)gcC>gcA	p.A466A	TGM2_ENST00000536724.1_Silent_p.A406A|TGM2_ENST00000536701.1_Silent_p.A385A	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	466					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.A466A(1)		endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CCTCCTTCTCGGCCAGTTTGT	0.562																																					p.A466A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1398A	20						.						109.0	91.0	97.0					20																	36766732		2203	4300	6503	36200146	SO:0001819	synonymous_variant	7052	exon10			M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"""Transglutaminases"""	11778	protein-coding gene	gene with protein product	"""C polypeptide, protein-glutamine-gamma-glutamyltransferase"""	190196	"""transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.1398C>A	20.37:g.36766732G>T			36200146	NM_198951	E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Silent	SNP	ENST00000361475.2	37	CCDS13302.1																																																																																				0.562	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079151.2	NM_198951	
SLC32A1	140679	broad.mit.edu	37	20	37357099	37357099	+	Silent	SNP	C	C	T	rs533540433		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:37357099C>T	ENST00000217420.1	+	2	1658	c.1395C>T	c.(1393-1395)ggC>ggT	p.G465G		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	465					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)	p.G465G(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GCCTCACGGGCGCCGGCCTCT	0.642																																					p.G465G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1395T	20						.						24.0	27.0	26.0					20																	37357099		2199	4294	6493	36790513	SO:0001819	synonymous_variant	140679	exon2			AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.1395C>T	20.37:g.37357099C>T			36790513	NM_080552	Q8N489	Silent	SNP	ENST00000217420.1	37	CCDS13307.1																																																																																				0.642	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552	
CDC25B	994	broad.mit.edu	37	20	3781905	3781905	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:3781905T>A	ENST00000245960.5	+	8	1407	c.710T>A	c.(709-711)cTc>cAc	p.L237H	CDC25B_ENST00000340833.4_Missense_Mutation_p.L196H|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000379598.5_Missense_Mutation_p.L173H|CDC25B_ENST00000439880.2_Missense_Mutation_p.L223H|CDC25B_ENST00000344256.6_Missense_Mutation_p.L173H	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	237					female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.L258H(1)|p.L237H(1)		NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						GGACAGTGTCTCAGTCCTGAC	0.582																																					p.L223H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T668A	20						.						91.0	86.0	87.0					20																	3781905		2203	4300	6503	3729905	SO:0001583	missense	994	exon8				CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1726	protein-coding gene	gene with protein product		116949	"""cell division cycle 25B"", ""cell division cycle 25 homolog B (S. cerevisiae)"", ""cell division cycle 25 homolog B (S. pombe)"""			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.710T>A	20.37:g.3781905T>A	ENSP00000245960:p.Leu237His		3729905	NM_004358	D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Missense_Mutation	SNP	ENST00000245960.5	37	CCDS13067.1	.	.	.	.	.	.	.	.	.	.	T	8.299	0.819385	0.16607	.	.	ENSG00000101224	ENST00000344256;ENST00000379598;ENST00000245960;ENST00000439880;ENST00000340833	T;T;T;T;T	0.25912	1.77;1.77;1.77;1.77;1.77	4.53	0.414	0.16406	.	0.280308	0.34580	N	0.003857	T	0.31327	0.0793	L	0.51422	1.61	0.21553	N	0.999644	P;P;P;P;P;D	0.67145	0.948;0.948;0.948;0.936;0.936;0.996	P;P;P;P;P;P	0.59288	0.744;0.827;0.744;0.627;0.694;0.855	T	0.26087	-1.0113	10	0.14252	T	0.57	-7.2637	9.6082	0.39645	0.0:0.0:0.5607:0.4393	.	173;159;173;196;223;237	B4DQZ3;B4DRC3;B4DIG0;P30305-3;P30305-2;P30305	.;.;.;.;.;MPIP2_HUMAN	H	173;173;237;223;196	ENSP00000339125:L173H;ENSP00000368918:L173H;ENSP00000245960:L237H;ENSP00000405972:L223H;ENSP00000339170:L196H	ENSP00000245960:L237H	L	+	2	0	CDC25B	3729905	0.001000	0.12720	0.712000	0.30502	0.413000	0.31143	0.238000	0.18004	0.273000	0.22049	0.459000	0.35465	CTC		0.582	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077779.2	NM_021874	
PPP1R16B	26051	broad.mit.edu	37	20	37464766	37464766	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:37464766C>T	ENST00000299824.1	+	2	387	c.198C>T	c.(196-198)ttC>ttT	p.F66F	PPP1R16B_ENST00000373331.2_Silent_p.F66F|PPP1R16B_ENST00000468265.1_3'UTR	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	66					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)	p.F66F(1)		biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				AAGTGTCCTTCGAGGCCAGCG	0.652																																					p.F66F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C198T	20						.						22.0	24.0	24.0					20																	37464766		2191	4266	6457	36898180	SO:0001819	synonymous_variant	26051	exon2			AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.198C>T	20.37:g.37464766C>T			36898180	NM_001172735	A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Silent	SNP	ENST00000299824.1	37	CCDS13309.1	.	.	.	.	.	.	.	.	.	.	C	8.623	0.891860	0.17613	.	.	ENSG00000101445	ENST00000438192	.	.	.	5.45	3.5	0.40072	.	.	.	.	.	T	0.58652	0.2137	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53085	-0.8488	4	.	.	.	.	8.8458	0.35170	0.0:0.7121:0.0:0.2879	.	.	.	.	L	9	.	.	S	+	2	0	PPP1R16B	36898180	0.997000	0.39634	1.000000	0.80357	0.631000	0.37964	0.476000	0.22180	0.670000	0.31165	-0.258000	0.10820	TCG		0.652	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568	
CHD6	84181	broad.mit.edu	37	20	40141631	40141631	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:40141631G>A	ENST00000373233.3	-	5	883	c.706C>T	c.(706-708)Cga>Tga	p.R236*	CHD6_ENST00000373222.3_Nonsense_Mutation_p.R271*|CHD6_ENST00000309279.7_Nonsense_Mutation_p.R236*	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	236	Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.R236*(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCCGAGCGTCGTTTCTGTAGG	0.473																																					p.R236X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C706T	20						.						314.0	265.0	282.0					20																	40141631		2203	4300	6503	39575045	SO:0001587	stop_gained	84181	exon5			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.706C>T	20.37:g.40141631G>A	ENSP00000362330:p.Arg236*		39575045	NM_032221	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Nonsense_Mutation	SNP	ENST00000373233.3	37	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	36	5.938217	0.97122	.	.	ENSG00000124177	ENST00000373233;ENST00000309279;ENST00000373222	.	.	.	5.47	4.47	0.54385	.	0.000000	0.49305	D	0.000146	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3522	14.6498	0.68789	0.0:0.0:0.8238:0.1762	.	.	.	.	X	236;236;271	.	ENSP00000308684:R236X	R	-	1	2	CHD6	39575045	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	4.133000	0.57983	1.140000	0.42260	0.655000	0.94253	CGA		0.473	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1		
PTPRT	11122	broad.mit.edu	37	20	40713421	40713421	+	Missense_Mutation	SNP	G	G	A	rs199947379		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:40713421G>A	ENST00000373187.1	-	29	4036	c.4037C>T	c.(4036-4038)aCg>aTg	p.T1346M	PTPRT_ENST00000373198.4_Missense_Mutation_p.T1365M|PTPRT_ENST00000356100.2_Missense_Mutation_p.T1355M|PTPRT_ENST00000373190.1_Missense_Mutation_p.T1345M|PTPRT_ENST00000373201.1_Missense_Mutation_p.T1336M|PTPRT_ENST00000373184.1_Missense_Mutation_p.T1356M|PTPRT_ENST00000373193.3_Missense_Mutation_p.T1349M			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1346	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.		T -> M (found in a patient with severe intellectual disability, behavioral problems, microcephaly, congenital cardiac defect and herniation of the abdominal diaphragm; also observed in some colorectal cancers; reduced phosphatase activity; unknown pathological significance). {ECO:0000269|PubMed:15155950, ECO:0000269|PubMed:24123876}.		cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.T1368M(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGAGGGGGGCGTGTCCCGGTA	0.597																																					p.T1365M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4094T	20						.	G	MET/THR,MET/THR	1,4055		0,1,2027	61.0	66.0	64.0		4037,4094	5.6	1.0	20		64	10,8332		0,10,4161	yes	missense,missense	PTPRT	NM_007050.5,NM_133170.3	81,81	0,11,6188	AA,AG,GG		0.1199,0.0247,0.0887	possibly-damaging,possibly-damaging	1346/1442,1365/1461	40713421	11,12387	2028	4171	6199	40146835	SO:0001583	missense	11122	exon30			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.4037C>T	20.37:g.40713421G>A	ENSP00000362283:p.Thr1346Met		40146835	NM_133170	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.629686	0.67015	2.47E-4	0.001199	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.14640	2.49;2.49;2.49;2.49;2.49;2.49;2.49	5.55	5.55	0.83447	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.053653	0.64402	D	0.000001	T	0.28433	0.0703	M	0.76574	2.34	0.58432	D	0.999996	D;P	0.54772	0.968;0.938	P;P	0.51742	0.549;0.678	T	0.00766	-1.1575	10	0.72032	D	0.01	.	13.9062	0.63836	0.0721:0.0:0.9279:0.0	.	1368;1346	O14522-1;O14522	.;PTPRT_HUMAN	M	1345;1346;1349;1355;1368;1356;1336	ENSP00000362286:T1345M;ENSP00000362283:T1346M;ENSP00000362289:T1349M;ENSP00000348408:T1355M;ENSP00000362294:T1368M;ENSP00000362280:T1356M;ENSP00000362297:T1336M	ENSP00000348408:T1355M	T	-	2	0	PTPRT	40146835	1.000000	0.71417	0.971000	0.41717	0.979000	0.70002	5.535000	0.67173	2.894000	0.99253	0.655000	0.94253	ACG		0.597	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1		
PTPRT	11122	broad.mit.edu	37	20	40730828	40730828	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:40730828C>T	ENST00000373187.1	-	26	3649	c.3650G>A	c.(3649-3651)tGc>tAc	p.C1217Y	PTPRT_ENST00000373198.4_Missense_Mutation_p.C1236Y|PTPRT_ENST00000356100.2_Missense_Mutation_p.C1226Y|PTPRT_ENST00000373190.1_Missense_Mutation_p.C1216Y|PTPRT_ENST00000373201.1_Missense_Mutation_p.C1207Y|PTPRT_ENST00000373184.1_Missense_Mutation_p.C1227Y|PTPRT_ENST00000373193.3_Missense_Mutation_p.C1220Y			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1217	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.C1239Y(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GAAGGGCAGGCAGCGGTCCAG	0.577																																					p.C1236Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3707A	20						.						80.0	84.0	83.0					20																	40730828		2149	4271	6420	40164242	SO:0001583	missense	11122	exon27			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3650G>A	20.37:g.40730828C>T	ENSP00000362283:p.Cys1217Tyr		40164242	NM_133170	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931324	0.92389	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57;2.57;2.57	5.48	5.48	0.80851	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.36991	0.0987	L	0.58810	1.83	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.998;0.999	T	0.04320	-1.0960	10	0.72032	D	0.01	.	19.354	0.94404	0.0:1.0:0.0:0.0	.	1239;1217	O14522-1;O14522	.;PTPRT_HUMAN	Y	1216;1217;1220;1226;1239;1227;1207	ENSP00000362286:C1216Y;ENSP00000362283:C1217Y;ENSP00000362289:C1220Y;ENSP00000348408:C1226Y;ENSP00000362294:C1239Y;ENSP00000362280:C1227Y;ENSP00000362297:C1207Y	ENSP00000348408:C1226Y	C	-	2	0	PTPRT	40164242	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.588000	0.87417	0.650000	0.86243	TGC		0.577	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1		
L3MBTL1	26013	broad.mit.edu	37	20	42162723	42162723	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:42162723C>T	ENST00000427442.2	+	14	1682	c.1523C>T	c.(1522-1524)gCc>gTc	p.A508V	L3MBTL1_ENST00000373134.1_Missense_Mutation_p.A440V|L3MBTL1_ENST00000444063.1_Missense_Mutation_p.A440V|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.A508V|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.A440V			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	440					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.A508V(1)		breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						CCCACCTGGGCCTTCAAGGTG	0.567																																					p.A508V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1523T	20						.						64.0	69.0	67.0					20																	42162723		2203	4300	6503	41596137	SO:0001583	missense	26013	exon14			U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"""Zinc fingers, C2HC-type containing"", ""Sterile alpha motif (SAM) domain containing"""	15905	protein-coding gene	gene with protein product	"""lethal (3) malignant brain tumor l(3)"""	608802	"""l(3)mbt (Drosophila)-like"", ""l(3)mbt-like (Drosophila)"""	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.1523C>T	20.37:g.42162723C>T	ENSP00000402107:p.Ala508Val		41596137	NM_032107	B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Missense_Mutation	SNP	ENST00000427442.2	37	CCDS46602.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.7|22.7	4.323316|4.323316	0.81580|0.81580	.|.	.|.	ENSG00000185513|ENSG00000185513	ENST00000427442;ENST00000418998;ENST00000373135;ENST00000444063;ENST00000373134;ENST00000422861;ENST00000373133|ENST00000445228	T;T;T;T;T;T|.	0.39997|.	1.05;1.05;1.05;1.05;1.05;1.05|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.049499|.	0.85682|.	D|.	0.000000|.	T|T	0.72977|0.72977	0.3528|0.3528	L|L	0.60455|0.60455	1.87|1.87	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D;D|.	0.89917|.	0.999;0.993;1.0;1.0|.	D;P;D;D|.	0.87578|.	0.937;0.786;0.997;0.998|.	T|T	0.69347|0.69347	-0.5169|-0.5169	10|5	0.20519|.	T|.	0.43|.	.|.	18.7951|18.7951	0.91991|0.91991	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	508;92;440;440|.	Q9Y468-5;Q9Y468-3;Q9Y468-2;Q9Y468-1|.	.;.;.;.|.	V|S	508;508;440;440;440;226;92|131	ENSP00000402107:A508V;ENSP00000398516:A508V;ENSP00000362227:A440V;ENSP00000403316:A440V;ENSP00000362226:A440V;ENSP00000410139:A226V|.	ENSP00000362225:A92V|.	A|P	+|+	2|1	0|0	L3MBTL1|L3MBTL1	41596137|41596137	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	5.810000|5.810000	0.69179|0.69179	2.804000|2.804000	0.96469|0.96469	0.655000|0.655000	0.94253|0.94253	GCC|CCT		0.567	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107	
WFDC5	149708	broad.mit.edu	37	20	43739056	43739056	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:43739056G>A	ENST00000307971.4	-	3	430	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W	WFDC5_ENST00000372789.4_Missense_Mutation_p.R118W			Q8TCV5	WFDC5_HUMAN	WAP four-disulfide core domain 5	118	WAP 2. {ECO:0000255|PROSITE- ProRule:PRU00722}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R118W(1)		kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				GCAGGATCCCGGCAATCCCGC	0.612																																					p.R118W	NSCLC(199;98 2227 9943 13455 41914)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C352T	20						.						15.0	18.0	17.0					20																	43739056		2203	4299	6502	43172470	SO:0001583	missense	149708	exon3			AY038181	CCDS33475.1	20q13.11	2013-01-21			ENSG00000175121	ENSG00000175121		"""WAP four-disulfide core domain containing"""	20477	protein-coding gene	gene with protein product		605161				12206714, 10680116	Standard	NM_145652		Approved	WAP1, dJ211D12.5	uc002xne.2	Q8TCV5	OTTHUMG00000046411	ENST00000307971.4:c.352C>T	20.37:g.43739056G>A	ENSP00000312381:p.Arg118Trp		43172470	NM_145652	Q5H981|Q6UWE4	Missense_Mutation	SNP	ENST00000307971.4	37		.	.	.	.	.	.	.	.	.	.	g	13.61	2.288847	0.40494	.	.	ENSG00000175121	ENST00000372789;ENST00000307971	T;T	0.73047	-0.71;-0.71	5.07	0.234	0.15390	Whey acidic protein, 4-disulphide core (5);4-disulphide core (1);	0.000000	0.48286	D	0.000183	T	0.81847	0.4909	M	0.83118	2.625	0.30412	N	0.778976	D	0.89917	1.0	D	0.80764	0.994	T	0.79032	-0.1969	10	0.40728	T	0.16	-10.5635	11.9933	0.53188	0.0:0.0:0.2953:0.7047	.	118	Q8TCV5	WFDC5_HUMAN	W	118	ENSP00000361875:R118W;ENSP00000312381:R118W	ENSP00000312381:R118W	R	-	1	2	WFDC5	43172470	0.909000	0.30893	0.844000	0.33320	0.165000	0.22458	0.302000	0.19192	0.153000	0.19213	-0.358000	0.07595	CGG		0.612	WFDC5-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000107192.1		
SEMG1	6406	broad.mit.edu	37	20	43836981	43836981	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:43836981A>G	ENST00000372781.3	+	2	1100	c.1043A>G	c.(1042-1044)tAc>tGc	p.Y348C	SEMG1_ENST00000244069.6_Missense_Mutation_p.Y288C	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	348	2 X 60 AA tandem repeats, type 1.|Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)	p.Y348C(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AAAATATCATACCAATCTTCA	0.393																																					p.Y348C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1043G	20						.						82.0	76.0	78.0					20																	43836981		2203	4300	6503	43270395	SO:0001583	missense	6406	exon2				CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"""semen coagulating protein"", ""cancer/testis antigen 103"""	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.1043A>G	20.37:g.43836981A>G	ENSP00000361867:p.Tyr348Cys		43270395	NM_003007	Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Missense_Mutation	SNP	ENST00000372781.3	37	CCDS13345.1	.	.	.	.	.	.	.	.	.	.	A	0.046	-1.265354	0.01433	.	.	ENSG00000124233	ENST00000244069;ENST00000372781	T;T	0.11385	2.78;2.78	1.13	-1.92	0.07618	.	.	.	.	.	T	0.18299	0.0439	L	0.48642	1.525	0.09310	N	1	B;D	0.76494	0.012;0.999	B;D	0.83275	0.005;0.996	T	0.14559	-1.0468	9	0.30854	T	0.27	.	4.3991	0.11377	0.582:0.0:0.418:0.0	.	288;348	P04279-2;P04279	.;SEMG1_HUMAN	C	288;348	ENSP00000244069:Y288C;ENSP00000361867:Y348C	ENSP00000244069:Y288C	Y	+	2	0	SEMG1	43270395	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.191000	0.03055	-0.667000	0.05303	-0.539000	0.04255	TAC		0.393	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007	
SNX21	90203	broad.mit.edu	37	20	44463723	44463723	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:44463723A>G	ENST00000491381.1	+	3	483	c.415A>G	c.(415-417)Aac>Gac	p.N139D	SNX21_ENST00000372541.1_Missense_Mutation_p.N130D|SNX21_ENST00000462307.1_Missense_Mutation_p.N139D|SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000372542.1_Missense_Mutation_p.N130D|TNNC2_ENST00000372557.1_5'Flank|SNX21_ENST00000342644.5_Missense_Mutation_p.N139D			Q969T3	SNX21_HUMAN	sorting nexin family member 21	139	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.N139D(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				GACCAGCGCTAACGTTGTCAA	0.602																																					p.N139D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A415G	20						.						53.0	51.0	52.0					20																	44463723		2203	4300	6503	43897130	SO:0001583	missense	90203	exon3			AK095851	CCDS13376.1, CCDS13377.1, CCDS42883.1	20q13.12	2013-01-10	2006-07-24	2006-07-24	ENSG00000124104	ENSG00000124104		"""Sorting nexins"", ""Tetratricopeptide (TTC) repeat domain containing"""	16154	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 161"""	C20orf161		12461558, 12459172	Standard	NM_152897		Approved	dJ337O18.4, SNX-L	uc002xpv.1	Q969T3	OTTHUMG00000032624	ENST00000491381.1:c.415A>G	20.37:g.44463723A>G	ENSP00000418593:p.Asn139Asp		43897130	NM_152897	Q5JZH5|Q5JZH6|Q5JZH7|Q8WUR6|Q9BR16	Missense_Mutation	SNP	ENST00000491381.1	37	CCDS13377.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.979922	0.74360	.	.	ENSG00000124104	ENST00000462307;ENST00000491381;ENST00000342644;ENST00000372542;ENST00000372541;ENST00000372545	T;T;T	0.29397	1.57;1.57;1.57	5.25	4.15	0.48705	Phox homologous domain (4);	0.159173	0.56097	D	0.000037	T	0.29524	0.0736	L	0.43152	1.355	0.29340	N	0.866093	B;P;P;P;B;P	0.44090	0.096;0.826;0.826;0.493;0.287;0.801	B;B;B;B;B;B	0.44315	0.017;0.446;0.446;0.085;0.074;0.339	T	0.11567	-1.0582	10	0.44086	T	0.13	-11.1189	10.459	0.44567	0.8366:0.1634:0.0:0.0	.	130;130;139;139;139;139	Q5JZH4;Q5JZH3;Q969T3;Q5JZH7;Q05DJ0;Q5JZH5	.;.;SNX21_HUMAN;.;.;.	D	139;139;139;130;130;130	ENSP00000418593:N139D;ENSP00000344586:N139D;ENSP00000361620:N130D	ENSP00000344586:N139D	N	+	1	0	SNX21	43897130	1.000000	0.71417	0.993000	0.49108	0.975000	0.68041	7.281000	0.78621	0.997000	0.38969	0.460000	0.39030	AAC		0.602	SNX21-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079534.1	NM_033421	
MMP9	4318	broad.mit.edu	37	20	44637648	44637648	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:44637648T>C	ENST00000372330.3	+	1	102	c.83T>C	c.(82-84)cTt>cCt	p.L28P		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	28					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L28P(1)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	CAGTCCACCCTTGTGCTCTTC	0.632																																					p.L28P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T83C	20						.						51.0	44.0	46.0					20																	44637648		2203	4300	6503	44071055	SO:0001583	missense	4318	exon1				CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.83T>C	20.37:g.44637648T>C	ENSP00000361405:p.Leu28Pro		44071055	NM_004994	B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	ENST00000372330.3	37	CCDS13390.1	.	.	.	.	.	.	.	.	.	.	T	3.997	-0.003346	0.07773	.	.	ENSG00000100985	ENST00000372330	T	0.20598	2.06	4.55	-0.96	0.10340	.	1.068220	0.07213	N	0.859528	T	0.14184	0.0343	L	0.29908	0.895	0.09310	N	1	B	0.28208	0.203	B	0.23419	0.046	T	0.33266	-0.9875	10	0.87932	D	0	.	5.6066	0.17383	0.2799:0.0:0.2903:0.4299	.	28	P14780	MMP9_HUMAN	P	28	ENSP00000361405:L28P	ENSP00000361405:L28P	L	+	2	0	MMP9	44071055	0.005000	0.15991	0.000000	0.03702	0.002000	0.02628	1.573000	0.36472	-0.289000	0.09038	-0.689000	0.03729	CTT		0.632	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1		
SLC13A3	64849	broad.mit.edu	37	20	45242172	45242172	+	Missense_Mutation	SNP	C	C	T	rs373953053		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:45242172C>T	ENST00000279027.4	-	2	322	c.304G>A	c.(304-306)Gcc>Acc	p.A102T	SLC13A3_ENST00000417157.2_Missense_Mutation_p.A55T|SLC13A3_ENST00000339636.3_Missense_Mutation_p.A102T|SLC13A3_ENST00000413164.2_Missense_Mutation_p.A102T|SLC13A3_ENST00000372121.1_Missense_Mutation_p.A102T|SLC13A3_ENST00000495082.1_Missense_Mutation_p.A55T|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000472148.1_Missense_Mutation_p.A55T|SLC13A3_ENST00000290317.5_Missense_Mutation_p.A55T|SLC13A3_ENST00000396360.1_Missense_Mutation_p.A55T	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	102					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)	p.A102T(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	TCCTCAATGGCGCTGGCCATG	0.577																																					p.A102T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G304A	20						.	C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	72.0	60.0	64.0		163,304,163,10,304	6.2	1.0	20		64	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	SLC13A3	NM_001011554.2,NM_001193339.1,NM_001193340.1,NM_001193342.1,NM_022829.5	58,58,58,58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	55/556,102/553,55/521,4/505,102/603	45242172	1,13005	2203	4300	6503	44675579	SO:0001583	missense	64849	exon2			AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.304G>A	20.37:g.45242172C>T	ENSP00000279027:p.Ala102Thr		44675579	NM_001193339	B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	ENST00000279027.4	37	CCDS13400.1	.	.	.	.	.	.	.	.	.	.	C	35	5.495996	0.96355	0.0	1.16E-4	ENSG00000158296	ENST00000290317;ENST00000396360;ENST00000279027;ENST00000472148;ENST00000413164;ENST00000495082;ENST00000468915;ENST00000420568;ENST00000372121;ENST00000417157;ENST00000339636	T;T;T;T;T;T;T;T;T;T;T	0.04406	3.63;3.63;3.63;3.63;3.63;3.63;3.63;3.63;3.63;3.63;3.63	6.17	6.17	0.99709	.	0.161221	0.56097	D	0.000032	T	0.26085	0.0636	M	0.79805	2.47	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.998;0.997	D;P;D;P;D	0.71870	0.975;0.876;0.957;0.851;0.928	T	0.00054	-1.2184	10	0.87932	D	0	-22.3086	20.8794	0.99867	0.0:1.0:0.0:0.0	.	102;55;55;55;102	B4DIR8;Q8WWT9-3;F6WI18;C9J4A3;Q8WWT9	.;.;.;.;S13A3_HUMAN	T	55;55;102;55;102;55;55;65;102;55;102	ENSP00000290317:A55T;ENSP00000379648:A55T;ENSP00000279027:A102T;ENSP00000420177:A55T;ENSP00000415852:A102T;ENSP00000419621:A55T;ENSP00000417784:A55T;ENSP00000395095:A65T;ENSP00000361193:A102T;ENSP00000397955:A55T;ENSP00000344912:A102T	ENSP00000279027:A102T	A	-	1	0	SLC13A3	44675579	1.000000	0.71417	0.981000	0.43875	0.977000	0.68977	6.120000	0.71596	2.941000	0.99782	0.655000	0.94253	GCC		0.577	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2		
PREX1	57580	broad.mit.edu	37	20	47324938	47324938	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:47324938C>T	ENST00000371941.3	-	6	665	c.643G>A	c.(643-645)Ggc>Agc	p.G215S	PREX1_ENST00000396220.1_Missense_Mutation_p.G215S	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	215	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G215S(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGGTGCTTGCCGGGAGTCCTC	0.577																																					p.G215S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G643A	20						.						102.0	112.0	108.0					20																	47324938		2203	4300	6503	46758345	SO:0001583	missense	57580	exon6			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.643G>A	20.37:g.47324938C>T	ENSP00000361009:p.Gly215Ser		46758345	NM_020820	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433195	0.25813	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.61392	0.11;0.11	5.64	4.69	0.59074	Dbl homology (DH) domain (5);	0.403999	0.19623	U	0.109876	T	0.25827	0.0629	N	0.03948	-0.315	0.09310	N	1	B	0.27416	0.178	B	0.19391	0.025	T	0.18023	-1.0350	10	0.09843	T	0.71	.	5.259	0.15563	0.3277:0.5297:0.0:0.1426	.	215	Q8TCU6	PREX1_HUMAN	S	215	ENSP00000361009:G215S;ENSP00000379522:G215S	ENSP00000361009:G215S	G	-	1	0	PREX1	46758345	0.951000	0.32395	0.749000	0.31150	0.976000	0.68499	3.748000	0.55142	1.359000	0.45940	0.655000	0.94253	GGC		0.577	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820	
CSE1L	1434	broad.mit.edu	37	20	47683023	47683023	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:47683023G>A	ENST00000262982.2	+	5	575	c.452G>A	c.(451-453)cGt>cAt	p.R151H	CSE1L_ENST00000542325.1_Intron|CSE1L_ENST00000396192.3_Missense_Mutation_p.R151H	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	151					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)	p.R151H(2)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			GGAGTCCTCCGTACAGCACAT	0.343																																					p.R151H												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G452A	20						.						98.0	92.0	94.0					20																	47683023		2203	4300	6503	47116430	SO:0001583	missense	1434	exon5			U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"""Exportins"""	2431	protein-coding gene	gene with protein product	"""cellular apoptosis susceptibility"""	601342	"""chromosome segregation 1 (yeast homolog)-like"""			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.452G>A	20.37:g.47683023G>A	ENSP00000262982:p.Arg151His		47116430	NM_001316	A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	ENST00000262982.2	37	CCDS13412.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.041334	0.35989	.	.	ENSG00000124207	ENST00000262982;ENST00000396192	T;T	0.68331	-0.32;-0.32	5.03	5.03	0.67393	Armadillo-like helical (1);Armadillo-type fold (1);	0.048885	0.85682	D	0.000000	T	0.46833	0.1413	N	0.20610	0.595	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.38693	-0.9649	10	0.15066	T	0.55	-11.8389	9.5366	0.39226	0.1588:0.0:0.8412:0.0	.	151;151	F8W904;P55060	.;XPO2_HUMAN	H	151	ENSP00000262982:R151H;ENSP00000379495:R151H	ENSP00000262982:R151H	R	+	2	0	CSE1L	47116430	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	6.745000	0.74860	2.481000	0.83766	0.455000	0.32223	CGT		0.343	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2	NM_001316	
SLC23A2	9962	broad.mit.edu	37	20	4913125	4913125	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:4913125C>T	ENST00000379333.1	-	3	476	c.84G>A	c.(82-84)aaG>aaA	p.K28K	SLC23A2_ENST00000424750.2_Silent_p.K28K|SLC23A2_ENST00000338244.1_Silent_p.K28K|SLC23A2_ENST00000468355.1_5'UTR	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	28					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)	p.K28K(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						AAGCTGGGTGCTTTGCCTCGT	0.408																																					p.K28K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G84A	20						.						213.0	175.0	188.0					20																	4913125		2203	4300	6503	4861125	SO:0001819	synonymous_variant	9962	exon3			AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.84G>A	20.37:g.4913125C>T			4861125	NM_203327	B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Silent	SNP	ENST00000379333.1	37	CCDS13085.1																																																																																				0.408	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1		
DDX27	55661	broad.mit.edu	37	20	47852952	47852952	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:47852952G>A	ENST00000371764.4	+	14	1694	c.1685G>A	c.(1684-1686)cGc>cAc	p.R562H	DDX27_ENST00000484427.1_3'UTR|ZNFX1_ENST00000469991.1_5'Flank	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	562	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.R562H(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGGGCTGGGCGCTCAGTCTCT	0.522																																					p.R562H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1685A	20						.						79.0	82.0	81.0					20																	47852952		2203	4300	6503	47286359	SO:0001583	missense	55661	exon14			AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.1685G>A	20.37:g.47852952G>A	ENSP00000360828:p.Arg562His		47286359	NM_017895	A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Missense_Mutation	SNP	ENST00000371764.4	37	CCDS13416.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492246	0.84962	.	.	ENSG00000124228	ENST00000371764	T	0.01548	4.78	6.17	6.17	0.99709	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.06280	0.0162	L	0.39633	1.23	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.59757	-0.7394	10	0.16420	T	0.52	-9.2994	18.3732	0.90420	0.0:0.0:1.0:0.0	.	562	Q96GQ7	DDX27_HUMAN	H	562	ENSP00000360828:R562H	ENSP00000360828:R562H	R	+	2	0	DDX27	47286359	1.000000	0.71417	1.000000	0.80357	0.345000	0.29048	9.827000	0.99397	2.941000	0.99782	0.655000	0.94253	CGC		0.522	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1		
TSHZ2	128553	broad.mit.edu	37	20	51872323	51872323	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:51872323G>A	ENST00000371497.5	+	2	3213	c.2326G>A	c.(2326-2328)Gag>Aag	p.E776K	TSHZ2_ENST00000329613.6_Missense_Mutation_p.E773K|TSHZ2_ENST00000603338.2_Missense_Mutation_p.E773K|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	776					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CAAGAAAGCCGAGTCCTCGCA	0.557																																					p.E776K												.	.	0			c.G2326A	20						.						110.0	105.0	107.0					20																	51872323		2203	4300	6503	51305730	SO:0001583	missense	128553	exon2			AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.2326G>A	20.37:g.51872323G>A	ENSP00000360552:p.Glu776Lys		51305730	NM_173485	B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	G	7.930	0.740440	0.15642	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.13778	2.56;2.56	5.09	5.09	0.68999	.	0.177337	0.49916	D	0.000125	T	0.15739	0.0379	M	0.63428	1.95	0.47819	D	0.999521	D	0.54772	0.968	B	0.37387	0.248	T	0.12451	-1.0547	10	0.24483	T	0.36	4.0037	18.4935	0.90855	0.0:0.0:1.0:0.0	.	776	Q9NRE2	TSH2_HUMAN	K	776;773;302	ENSP00000360552:E776K;ENSP00000333114:E773K	ENSP00000333114:E773K	E	+	1	0	TSHZ2	51305730	1.000000	0.71417	0.981000	0.43875	0.971000	0.66376	4.837000	0.62796	2.349000	0.79799	0.579000	0.79373	GAG		0.557	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485	
MC3R	4159	broad.mit.edu	37	20	54824847	54824847	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:54824847C>T	ENST00000243911.2	+	1	1060	c.948C>T	c.(946-948)ggC>ggT	p.G316G		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	316					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)	p.G353G(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TTCTCTGTGGCTGCAACGGCA	0.502																																					p.G316G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C948T	20						.						148.0	144.0	145.0					20																	54824847		2203	4300	6503	54258254	SO:0001819	synonymous_variant	4159	exon1				CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"""GPCR / Class A : Melanocortin receptors"""	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.948C>T	20.37:g.54824847C>T			54258254	NM_019888	Q4KN27|Q9H517	Silent	SNP	ENST00000243911.2	37	CCDS13449.2																																																																																				0.502	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2		
RBM38	55544	broad.mit.edu	37	20	55982709	55982709	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:55982709G>A	ENST00000356208.5	+	4	702	c.527G>A	c.(526-528)aGc>aAc	p.S176N	RBM38_ENST00000440234.2_3'UTR|RBM38_ENST00000371219.2_Missense_Mutation_p.S95N	NM_017495.5	NP_059965.2	Q9H0Z9	RBM38_HUMAN	RNA binding motif protein 38	176					3'-UTR-mediated mRNA stabilization (GO:0070935)|cell cycle (GO:0007049)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|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)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|regulation of myotube differentiation (GO:0010830)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S176N(1)		large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			ACGCCGGCCAGCCCGGCCTAC	0.672																																					p.A176T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G526A	20						.						28.0	37.0	34.0					20																	55982709		2132	4217	6349	55416115	SO:0001583	missense	55544	exon4			X75314	CCDS46617.1, CCDS46618.1	20q13.31	2013-02-12	2006-07-11	2006-07-11	ENSG00000132819	ENSG00000132819		"""RNA binding motif (RRM) containing"""	15818	protein-coding gene	gene with protein product		612428	"""RNA-binding region (RNP1, RRM) containing 1"""	RNPC1			Standard	NM_017495		Approved	HSRNASEB, SEB4D, seb4B, dJ800J21.2	uc010zzj.2	Q9H0Z9	OTTHUMG00000032820	ENST00000356208.5:c.527G>A	20.37:g.55982709G>A	ENSP00000348538:p.Ser176Asn		55416115	NM_017495	A6NDK1|A6NMU6|Q15350|Q15351|Q9BYK3|Q9BYK4	Missense_Mutation	SNP	ENST00000356208.5	37	CCDS46617.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.603678	0.46423	.	.	ENSG00000132819	ENST00000356208;ENST00000371219	T;T	0.18810	2.7;2.19	4.55	2.54	0.30619	.	0.155187	0.44483	D	0.000442	T	0.11196	0.0273	N	0.22421	0.69	0.46586	D	0.999113	B	0.09022	0.002	B	0.04013	0.001	T	0.12941	-1.0528	10	0.15499	T	0.54	-5.0456	7.1361	0.25529	0.163:0.1421:0.6949:0.0	.	176	Q9H0Z9	RBM38_HUMAN	N	176;95	ENSP00000348538:S176N;ENSP00000360263:S95N	ENSP00000348538:S176N	S	+	2	0	RBM38	55416115	1.000000	0.71417	0.999000	0.59377	0.906000	0.53458	4.268000	0.58883	1.043000	0.40175	0.462000	0.41574	AGC		0.672	RBM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079843.4	NM_183425	
ZBP1	81030	broad.mit.edu	37	20	56179811	56179811	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:56179811C>T	ENST00000371173.3	-	8	1285	c.1108G>A	c.(1108-1110)Gac>Aac	p.D370N	ZBP1_ENST00000340462.4_Missense_Mutation_p.D347N|ZBP1_ENST00000395822.3_Missense_Mutation_p.D295N	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	370					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)	p.D370N(1)		large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			GATTGTGTGTCTGCGGGACGA	0.557																																					p.D369N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1105A	20						.						160.0	124.0	136.0					20																	56179811		2203	4300	6503	55613217	SO:0001583	missense	81030	exon8			AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"""DNA-dependent activator of IRFs"""	606750	"""chromosome 20 open reading frame 183"""	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.1108G>A	20.37:g.56179811C>T	ENSP00000360215:p.Asp370Asn		55613217	NM_001160417	A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Missense_Mutation	SNP	ENST00000371173.3	37	CCDS13461.1	.	.	.	.	.	.	.	.	.	.	C	0.200	-1.045824	0.01997	.	.	ENSG00000124256	ENST00000371173;ENST00000395822;ENST00000340462;ENST00000357677	T;T;T	0.12879	3.01;2.64;3.01	2.16	2.16	0.27623	.	.	.	.	.	T	0.07052	0.0179	N	0.14661	0.345	0.22541	N	0.999007	B;P;P	0.36647	0.389;0.563;0.563	B;B;B	0.34931	0.113;0.192;0.192	T	0.31223	-0.9951	9	0.19590	T	0.45	.	7.8581	0.29493	0.0:1.0:0.0:0.0	.	370;295;370	A2RRL9;A2A2F7;Q9H171	.;.;ZBP1_HUMAN	N	370;295;347;370	ENSP00000360215:D370N;ENSP00000379167:D295N;ENSP00000344954:D347N	ENSP00000344954:D347N	D	-	1	0	ZBP1	55613217	0.000000	0.05858	0.006000	0.13384	0.002000	0.02628	0.372000	0.20467	1.523000	0.49018	0.514000	0.50259	GAC		0.557	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	NM_030776	
NELFCD	51497	broad.mit.edu	37	20	57564694	57564694	+	Splice_Site	SNP	C	C	T	rs11542234		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:57564694C>T	ENST00000344018.3	+	6	710	c.683C>T	c.(682-684)gCc>gTc	p.A228V	NELFCD_ENST00000602795.1_Splice_Site_p.A237V			Q8IXH7	NELFD_HUMAN	negative elongation factor complex member C/D	228					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	membrane (GO:0016020)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)		p.A228V(1)									CCTGAGTTTGCCGTAAGTTCT	0.448																																					p.A228V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C683T	20						.						82.0	96.0	91.0					20																	57564694		2203	4300	6503	56998089	SO:0001630	splice_region_variant	51497	exon6			AF161479	CCDS13473.1, CCDS13473.2	20q13	2013-01-31	2013-01-31	2013-01-31	ENSG00000101158	ENSG00000101158			15934	protein-coding gene	gene with protein product	"""trihydrophobin 1"""	605297	"""TH1-like (Drosophila homolog)"", ""TH1-like (Drosophila)"""	TH1L		11030415, 11042152	Standard	NM_198976		Approved	HSPC130, TH1, NELF-C, NELF-D	uc002yag.4	Q8IXH7	OTTHUMG00000032861	ENST00000344018.3:c.684+1C>T	20.37:g.57564694C>T			56998089	NM_198976	B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3	Missense_Mutation	SNP	ENST00000344018.3	37		.	.	.	.	.	.	.	.	.	.	C	18.19	3.569547	0.65765	.	.	ENSG00000101158	ENST00000344018	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.73567	0.3603	L	0.48174	1.505	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.997	D;D;D	0.87578	0.998;0.989;0.983	T	0.67309	-0.5703	9	0.23891	T	0.37	-26.8961	18.0843	0.89453	0.0:1.0:0.0:0.0	.	228;237;228	B4E2K1;E1P5H4;Q8IXH7	.;.;NELFD_HUMAN	V	228	.	ENSP00000342300:A228V	A	+	2	0	TH1L	56998089	1.000000	0.71417	0.974000	0.42286	0.951000	0.60555	7.441000	0.80485	2.717000	0.92951	0.655000	0.94253	GCC		0.448	NELFCD-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198976	Missense_Mutation
CTSZ	1522	broad.mit.edu	37	20	57576672	57576672	+	Missense_Mutation	SNP	G	G	A	rs201081854		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:57576672G>A	ENST00000217131.5	-	3	453	c.335C>T	c.(334-336)gCg>gTg	p.A112V		NM_001336.3	NP_001327.2	Q9UBR2	CATZ_HUMAN	cathepsin Z	112					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)	p.A112V(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	10	all_lung(29;0.00711)		Colorectal(105;0.109)			GGAGGGCCACGCTCCCTTCCT	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		21200	0.0		0.0	False		,,,				2504	0.001				p.A112V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C335T	20						.	G	VAL/ALA	0,4406		0,0,2203	167.0	124.0	139.0		335	2.3	0.1	20		139	1,8599	1.2+/-3.3	0,1,4299	no	missense	CTSZ	NM_001336.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	112/304	57576672	1,13005	2203	4300	6503	57010067	SO:0001583	missense	1522	exon3			AF032906	CCDS13474.1	20q13.32	2012-02-10			ENSG00000101160	ENSG00000101160		"""Cathepsins"""	2547	protein-coding gene	gene with protein product	"""cathepsin X"", ""carboxypeptidase LB"", ""cathepsin IV"", ""cathepsin B2"", ""cathepsin Y"", ""cathepsin Z1"", ""cysteine-type carboxypeptidase"", ""lysosomal carboxypeptidase B"""	603169				9642240	Standard	NM_001336		Approved	CTSX	uc002yai.2	Q9UBR2	OTTHUMG00000032858	ENST00000217131.5:c.335C>T	20.37:g.57576672G>A	ENSP00000217131:p.Ala112Val		57010067	NM_001336	B2RC40|O75331|Q9UQV5|Q9UQV6	Missense_Mutation	SNP	ENST00000217131.5	37	CCDS13474.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.357988	0.24598	0.0	1.16E-4	ENSG00000101160	ENST00000217131	T	0.45668	0.89	5.26	2.3	0.28687	Peptidase C1A, papain C-terminal (2);	0.221117	0.46442	D	0.000297	T	0.27663	0.0680	L	0.45470	1.425	0.58432	D	0.999998	P;B	0.40875	0.731;0.367	B;B	0.25884	0.064;0.02	T	0.04203	-1.0969	10	0.41790	T	0.15	.	10.2776	0.43519	0.2301:0.0:0.7699:0.0	.	112;112	Q5U000;Q9UBR2	.;CATZ_HUMAN	V	112	ENSP00000217131:A112V	ENSP00000217131:A112V	A	-	2	0	CTSZ	57010067	1.000000	0.71417	0.081000	0.20488	0.247000	0.25773	4.931000	0.63469	0.255000	0.21593	-0.944000	0.02675	GCG		0.612	CTSZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079899.1	NM_001336	
CHGB	1114	broad.mit.edu	37	20	5903182	5903182	+	Missense_Mutation	SNP	G	G	A	rs200903465		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:5903182G>A	ENST00000378961.4	+	4	596	c.392G>A	c.(391-393)cGa>cAa	p.R131Q		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	131						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)	p.R131Q(1)		breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GGGCACAGCCGAGAGCGAGCG	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13813	0.0		0.0	False		,,,				2504	0.0				p.R131Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G392A	20						.						28.0	30.0	29.0					20																	5903182		2203	4300	6503	5851182	SO:0001583	missense	1114	exon4				CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.392G>A	20.37:g.5903182G>A	ENSP00000368244:p.Arg131Gln		5851182	NM_001819	A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	ENST00000378961.4	37	CCDS13092.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	20.8	4.053980	0.75960	.	.	ENSG00000089199	ENST00000378961;ENST00000455042	T;T	0.02656	4.21;4.21	5.57	-4.48	0.03515	.	1.613670	0.03717	N	0.251184	T	0.04588	0.0125	M	0.67953	2.075	0.09310	N	1	B	0.24576	0.106	B	0.15484	0.013	T	0.45948	-0.9226	10	0.62326	D	0.03	-0.0428	8.7516	0.34620	0.6367:0.1187:0.2446:0.0	.	131	P05060	SCG1_HUMAN	Q	131;111	ENSP00000368244:R131Q;ENSP00000416643:R111Q	ENSP00000368244:R131Q	R	+	2	0	CHGB	5851182	0.000000	0.05858	0.008000	0.14137	0.855000	0.48748	-0.001000	0.12947	-0.601000	0.05783	0.563000	0.77884	CGA		0.607	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819	
FAM217B	63939	broad.mit.edu	37	20	58519673	58519673	+	Silent	SNP	G	G	A	rs200236348		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:58519673G>A	ENST00000358293.3	+	5	1090	c.675G>A	c.(673-675)aaG>aaA	p.K225K	FAM217B_ENST00000469084.1_3'UTR|FAM217B_ENST00000360816.3_Silent_p.K225K	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	225								p.K225K(1)									GGAGAAGTAAGCTAATTGCTA	0.537																																					p.K225K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G675A	20						.						43.0	48.0	46.0					20																	58519673		2203	4300	6503	57953068	SO:0001819	synonymous_variant	63939	exon5			AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 177"""	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.675G>A	20.37:g.58519673G>A			57953068	NM_001190826	B3KWH1|Q9NTA3	Silent	SNP	ENST00000358293.3	37	CCDS13484.1																																																																																				0.537	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268139.1	NM_022106	
DIDO1	11083	broad.mit.edu	37	20	61542332	61542332	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:61542332G>A	ENST00000266070.4	-	3	958	c.633C>T	c.(631-633)ggC>ggT	p.G211G	DIDO1_ENST00000354665.4_Silent_p.G211G|DIDO1_ENST00000370366.1_Silent_p.G211G|DIDO1_ENST00000395335.2_Silent_p.G211G|DIDO1_ENST00000395340.1_Silent_p.G211G|DIDO1_ENST00000395343.1_Silent_p.G211G|DIDO1_ENST00000370371.4_Silent_p.G211G|DIDO1_ENST00000266071.5_Silent_p.G211G|DIDO1_ENST00000370368.1_Silent_p.G211G	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	211					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.G211G(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGGGCAGGACGCCCTCCACAG	0.637																																					p.G211G	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C633T	20						.						59.0	63.0	62.0					20																	61542332		2203	4300	6503	61012777	SO:0001819	synonymous_variant	11083	exon3			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.633C>T	20.37:g.61542332G>A			61012777	NM_022105	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	CCDS33506.1																																																																																				0.637	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796	
SLC52A3	113278	broad.mit.edu	37	20	744381	744381	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:744381C>T	ENST00000217254.7	-	3	1075	c.834G>A	c.(832-834)acG>acA	p.T278T	SLC52A3_ENST00000473664.1_Intron|SLC52A3_ENST00000381944.3_Silent_p.T278T	NM_033409.3	NP_212134.3	Q9NQ40	S52A3_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	278			T -> M (in dbSNP:rs3746803). {ECO:0000269|PubMed:15489334}.		cellular response to heat (GO:0034605)|riboflavin metabolic process (GO:0006771)|riboflavin transport (GO:0032218)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	riboflavin transporter activity (GO:0032217)	p.T278T(1)									TGCTGTCCACCGTGCCTGCAG	0.642																																					p.T278T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G834A	20						.						51.0	49.0	50.0					20																	744381		2203	4300	6503	692381	SO:0001819	synonymous_variant	113278	exon3			AL118502	CCDS13007.1	20p13	2013-07-17	2013-07-17	2012-02-29	ENSG00000101276	ENSG00000101276		"""Solute carriers"""	16187	protein-coding gene	gene with protein product	"""hypothetical protein LOC113278"""	613350	"""chromosome 20 open reading frame 54"""	C20orf54		11780052, 19122205	Standard	NM_033409		Approved	bA371L19.1, hRFT2, RFVT3	uc002wed.4	Q9NQ40	OTTHUMG00000031647	ENST00000217254.7:c.834G>A	20.37:g.744381C>T			692381	NM_033409	A8K6P1|Q5W1A0|Q5W1A1|Q8NCL7|Q96GD5	Silent	SNP	ENST00000217254.7	37	CCDS13007.1																																																																																				0.642	SLC52A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077482.2	NM_033409	
ANGPT4	51378	broad.mit.edu	37	20	860412	860412	+	Missense_Mutation	SNP	C	C	A	rs370994711		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:860412C>A	ENST00000381922.3	-	6	1133	c.1031G>T	c.(1030-1032)cGg>cTg	p.R344L	ANGPT4_ENST00000546022.1_Missense_Mutation_p.R344L	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	344	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.R344L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CTTCCAGTTCCGCTGAAAATT	0.607																																					p.R344L	Pancreas(181;481 2077 3259 31286 49856)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1031T	20						.						83.0	74.0	77.0					20																	860412		2203	4300	6503	808412	SO:0001583	missense	51378	exon6			AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.1031G>T	20.37:g.860412C>A	ENSP00000371347:p.Arg344Leu		808412	NM_015985	B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	ENST00000381922.3	37	CCDS13009.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268862	0.80469	.	.	ENSG00000101280	ENST00000381922;ENST00000546022	T;T	0.42131	1.49;0.98	5.34	5.34	0.76211	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	T	0.69949	0.3168	M	0.87900	2.915	0.44254	D	0.9971	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.98	T	0.74569	-0.3622	10	0.66056	D	0.02	.	18.2135	0.89878	0.0:1.0:0.0:0.0	.	344;344	B4E3J9;Q9Y264	.;ANGP4_HUMAN	L	344	ENSP00000371347:R344L;ENSP00000439605:R344L	ENSP00000371347:R344L	R	-	2	0	ANGPT4	808412	0.915000	0.31059	1.000000	0.80357	0.641000	0.38312	2.465000	0.45075	2.776000	0.95493	0.655000	0.94253	CGG		0.607	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985	
PLCB1	23236	broad.mit.edu	37	20	8782728	8782728	+	Intron	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:8782728C>T	ENST00000338037.6	+	31	3450				PLCB1_ENST00000378641.3_Missense_Mutation_p.S1150L|PLCB1_ENST00000378637.2_Missense_Mutation_p.S1150L	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)						activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.S1150L(1)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TCATTCTTGTCGGAAACTTGC	0.493																																					p.S1150L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3449T	20						.						110.0	92.0	98.0					20																	8782728		2203	4300	6503	8730728	SO:0001627	intron_variant	23236	exon32			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.3423+11820C>T	20.37:g.8782728C>T			8730728	NM_182734	D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378016	0.61735	.	.	ENSG00000182621	ENST00000378641;ENST00000378637;ENST00000535719	T;T	0.19394	2.15;2.15	5.87	5.87	0.94306	.	.	.	.	.	T	0.31167	0.0788	L	0.29908	0.895	0.28165	N	0.928804	D	0.53619	0.961	P	0.58820	0.846	T	0.07290	-1.0780	9	0.29301	T	0.29	.	16.0731	0.80948	0.0:1.0:0.0:0.0	.	1150	Q9NQ66-2	.	L	1150;1150;1070	ENSP00000367908:S1150L;ENSP00000367904:S1150L	ENSP00000367904:S1150L	S	+	2	0	PLCB1	8730728	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.128000	0.42045	2.941000	0.99782	0.655000	0.94253	TCG		0.493	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3		
SPAG4	6676	broad.mit.edu	37	20	34208803	34208803	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:34208803delC	ENST00000374273.3	+	12	1285	c.1173delC	c.(1171-1173)gacfs	p.D391fs		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	391	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|motile cilium (GO:0031514)	structural molecule activity (GO:0005198)	p.P393fs*7(1)		NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			CCCAGAATGACCCCCCAGCTG	0.577																																					p.D391fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1173delC	20						.						85.0	83.0	84.0					20																	34208803		2203	4300	6503	33672217	SO:0001589	frameshift_variant	6676	exon12			AF043344	CCDS13259.1	20q11.2	2010-04-23			ENSG00000061656	ENSG00000061656			11214	protein-coding gene	gene with protein product	"""acrosomal protein ACR55"", ""Sad1 and UNC84 domain containing 4"", ""cancer/testis antigen 127"""	603038				9691178, 10373309	Standard	NM_003116		Approved	SUN4, CT127	uc002xdb.1	Q9NPE6	OTTHUMG00000032352	ENST00000374273.3:c.1173delC	20.37:g.34208803delC	ENSP00000363391:p.Asp391fs		33672217	NM_003116	O43648	Frame_Shift_Del	DEL	ENST00000374273.3	37	CCDS13259.1																																																																																				0.577	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078896.1	NM_003116	
C20orf166-AS1	253868	broad.mit.edu	37	20	61143743	61143743	+	RNA	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:61143743G>A	ENST00000475015.1	-	0	595				C20orf166-AS1_ENST00000436101.1_RNA|C20orf166-AS1_ENST00000412495.1_RNA			Q96NR2	C2AS1_HUMAN	C20orf166 antisense RNA 1									p.G35G(1)									CTCCATGACCGCCCTTGGCTT	0.662																																					.												.	.	1	Substitution - coding silent(1)	large_intestine(1)	.	20						.						89.0	80.0	83.0					20																	61143743		2203	4300	6503	60554188			253868	.			AK054875		20q13.33	2012-10-12	2012-08-15	2011-08-10	ENSG00000174403	ENSG00000174403		"""Long non-coding RNAs"""	26393	non-coding RNA	RNA, long non-coding			"""chromosome 20 open reading frame 200"", ""non-protein coding RNA 335"", ""C20orf166 antisense RNA 1 (non-protein coding)"""	C20orf200, NCRNA00335			Standard	NR_033263		Approved	FLJ30313	uc002ycz.3	Q96NR2	OTTHUMG00000048002		20.37:g.61143743G>A			60554188	.	Q52LN1	Silent	SNP	ENST00000475015.1	37																																																																																					0.662	C20orf166-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000109266.2	NR_033263	
C20orf166-AS1	253868	broad.mit.edu	37	20	61143819	61143819	+	RNA	SNP	G	G	T	rs111651569	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:61143819G>T	ENST00000475015.1	-	0	519				C20orf166-AS1_ENST00000436101.1_RNA|C20orf166-AS1_ENST00000412495.1_RNA			Q96NR2	C2AS1_HUMAN	C20orf166 antisense RNA 1									p.A10E(1)									CCCCTCGTGCGCGAGGTGCCC	0.672																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	20						.						107.0	97.0	100.0					20																	61143819		2203	4300	6503	60554264			253868	.			AK054875		20q13.33	2012-10-12	2012-08-15	2011-08-10	ENSG00000174403	ENSG00000174403		"""Long non-coding RNAs"""	26393	non-coding RNA	RNA, long non-coding			"""chromosome 20 open reading frame 200"", ""non-protein coding RNA 335"", ""C20orf166 antisense RNA 1 (non-protein coding)"""	C20orf200, NCRNA00335			Standard	NR_033263		Approved	FLJ30313	uc002ycz.3	Q96NR2	OTTHUMG00000048002		20.37:g.61143819G>T			60554264	.	Q52LN1	Missense_Mutation	SNP	ENST00000475015.1	37																																																																																					0.672	C20orf166-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000109266.2	NR_033263	
MYT1	4661	broad.mit.edu	37	20	62848581	62848581	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr20:62848581G>A	ENST00000328439.1	+	11	2157	c.1793G>A	c.(1792-1794)cGc>cAc	p.R598H	MYT1_ENST00000360149.4_Missense_Mutation_p.R300H|MYT1_ENST00000536311.1_Missense_Mutation_p.R598H	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R598H(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TTTGGCAAACGCATGCTTGCC	0.512																																					p.R598H	GBM(59;481 1041 20555 21139 33705)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1793A	20						.						109.0	101.0	104.0					20																	62848581		2203	4300	6503	62319025	SO:0001583	missense	4661	exon11			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.1793G>A	20.37:g.62848581G>A	ENSP00000327465:p.Arg598His		62319025	NM_004535	B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244531	0.79912	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.60920	0.15;0.15;0.15	5.55	5.55	0.83447	Myelin transcription factor 1 (1);	0.000000	0.85682	D	0.000000	T	0.71986	0.3405	L	0.48877	1.53	0.80722	D	1	D;D;D	0.89917	1.0;0.969;1.0	D;P;D	0.81914	0.985;0.786;0.995	T	0.72239	-0.4351	10	0.56958	D	0.05	-27.1996	19.5144	0.95157	0.0:0.0:1.0:0.0	.	598;598;300	F5H7M8;Q01538;Q6P6D5	.;MYT1_HUMAN;.	H	300;598;598	ENSP00000353269:R300H;ENSP00000327465:R598H;ENSP00000442412:R598H	ENSP00000327465:R598H	R	+	2	0	MYT1	62319025	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.725000	0.98778	2.618000	0.88619	0.655000	0.94253	CGC		0.512	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535	
LIPI	149998	broad.mit.edu	37	21	15554164	15554164	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr21:15554164C>T	ENST00000536861.1	-	4	557	c.558G>A	c.(556-558)ggG>ggA	p.G186G	LIPI_ENST00000344577.2_Silent_p.G207G			Q6XZB0	LIPI_HUMAN	lipase, member I	186					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)	p.G207G(1)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		AGAACCTTGGCCCAGCAGGGT	0.408																																					p.G207G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G621A	21						.						85.0	81.0	82.0					21																	15554164		2203	4300	6503	14476035	SO:0001819	synonymous_variant	149998	exon4			BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"""membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17"""	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.558G>A	21.37:g.15554164C>T			14476035	NM_198996	G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Silent	SNP	ENST00000536861.1	37		.	.	.	.	.	.	.	.	.	.	C	1.978	-0.434957	0.04669	.	.	ENSG00000188992	ENST00000400211	.	.	.	5.46	-4.6	0.03390	.	.	.	.	.	T	0.38878	0.1057	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40001	-0.9586	4	.	.	.	.	2.7882	0.05380	0.0927:0.2271:0.2754:0.4048	.	.	.	.	T	66	.	.	A	-	1	0	LIPI	14476035	0.008000	0.16893	0.982000	0.44146	0.240000	0.25518	-1.254000	0.02874	-0.471000	0.06891	-0.165000	0.13383	GCC		0.408	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996	
USP25	29761	broad.mit.edu	37	21	17198655	17198655	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr21:17198655T>C	ENST00000285679.6	+	13	1806	c.1437T>C	c.(1435-1437)agT>agC	p.S479S	USP25_ENST00000285681.2_Silent_p.S479S|USP25_ENST00000400183.2_Silent_p.S479S|USP25_ENST00000351097.5_Intron	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	479	USP.				cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)	p.S479S(1)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		CCCCACCTAGTGGTTCCATAC	0.403																																					p.S479S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1437C	21						.						195.0	161.0	172.0					21																	17198655		2203	4300	6503	16120526	SO:0001819	synonymous_variant	29761	exon13			AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.1437T>C	21.37:g.17198655T>C			16120526	NM_013396	C0LSZ0|Q6DHZ9|Q9H9W1	Silent	SNP	ENST00000285679.6	37	CCDS33515.1																																																																																				0.403	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1		
TMPRSS15	5651	broad.mit.edu	37	21	19698832	19698832	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr21:19698832G>A	ENST00000284885.3	-	16	1871	c.1838C>T	c.(1837-1839)aCt>aTt	p.T613I		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	613	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.T613I(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GAGAAGCACAGTCATTCTGTT	0.458																																					p.T613I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1838T	21						.						223.0	183.0	197.0					21																	19698832		2203	4300	6503	18620703	SO:0001583	missense	5651	exon16				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1838C>T	21.37:g.19698832G>A	ENSP00000284885:p.Thr613Ile		18620703	NM_002772	Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217336	0.58560	.	.	ENSG00000154646	ENST00000284885	T	0.21543	2.0	5.27	5.27	0.74061	CUB (5);	0.066934	0.64402	D	0.000008	T	0.44265	0.1285	M	0.64260	1.97	0.43218	D	0.995098	D	0.89917	1.0	D	0.81914	0.995	T	0.14952	-1.0454	9	.	.	.	.	16.7401	0.85457	0.0:0.0:1.0:0.0	.	613	P98073	ENTK_HUMAN	I	613	ENSP00000284885:T613I	.	T	-	2	0	TMPRSS15	18620703	1.000000	0.71417	1.000000	0.80357	0.265000	0.26407	4.128000	0.57951	2.612000	0.88384	0.650000	0.86243	ACT		0.458	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772	
NCAM2	4685	broad.mit.edu	37	21	22696779	22696779	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr21:22696779C>T	ENST00000400546.1	+	6	945	c.696C>T	c.(694-696)tgC>tgT	p.C232C	NCAM2_ENST00000284894.7_Silent_p.C90C|NCAM2_ENST00000535285.1_Silent_p.C257C	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	232	Ig-like C2-type 3.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.C232C(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CATTTTCCTGCAGGGCCTCAG	0.498																																					p.C232C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C696T	21						.						99.0	99.0	99.0					21																	22696779		1927	4132	6059	21618650	SO:0001819	synonymous_variant	4685	exon6				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.696C>T	21.37:g.22696779C>T			21618650	NM_004540	A8MQ06|B7Z841|Q7Z7F2	Silent	SNP	ENST00000400546.1	37	CCDS42910.1																																																																																				0.498	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540	
ADAMTS5	11096	broad.mit.edu	37	21	28302367	28302367	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr21:28302367G>C	ENST00000284987.5	-	7	2184	c.2063C>G	c.(2062-2064)aCt>aGt	p.T688S	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	688	Cys-rich.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T688S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CCTACATTCAGTGCCATCGGT	0.468																																					p.T688S	Esophageal Squamous(53;683 1080 10100 14424 45938)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2063G	21						.						181.0	160.0	167.0					21																	28302367		2203	4300	6503	27224238	SO:0001583	missense	11096	exon7			AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.2063C>G	21.37:g.28302367G>C	ENSP00000284987:p.Thr688Ser		27224238	NM_007038	Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893361	0.52121	.	.	ENSG00000154736	ENST00000284987	T	0.76709	-1.04	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.91123	0.7205	M	0.92026	3.265	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	D	0.92002	0.5611	10	0.87932	D	0	.	20.428	0.99075	0.0:0.0:1.0:0.0	.	688	Q9UNA0	ATS5_HUMAN	S	688	ENSP00000284987:T688S	ENSP00000284987:T688S	T	-	2	0	ADAMTS5	27224238	1.000000	0.71417	0.752000	0.31206	0.165000	0.22458	9.111000	0.94308	2.837000	0.97791	0.655000	0.94253	ACT		0.468	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1		
RWDD2B	10069	broad.mit.edu	37	21	30378833	30378833	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr21:30378833C>T	ENST00000493196.1	-	5	965	c.865G>A	c.(865-867)Gga>Aga	p.G289R	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	289								p.G289R(1)		endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						ATGTGGTTTCCCCTGGCTCCA	0.393																																					p.G289R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G865A	21						.						128.0	115.0	120.0					21																	30378833		2203	4300	6503	29300704	SO:0001583	missense	10069	exon5			AF212232	CCDS13582.1	21q22.11	2012-12-07	2007-07-17	2007-07-17	ENSG00000156253	ENSG00000156253			1302	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 6"""	C21orf6		10729227	Standard	NM_016940		Approved	GL011	uc002yms.3	P57060	OTTHUMG00000078805	ENST00000493196.1:c.865G>A	21.37:g.30378833C>T	ENSP00000418693:p.Gly289Arg		29300704	NM_016940		Missense_Mutation	SNP	ENST00000493196.1	37	CCDS13582.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.601476	0.66445	.	.	ENSG00000156253	ENST00000493196	.	.	.	5.45	5.45	0.79879	Domain of unknown function DUF1115 (1);	0.000000	0.85682	D	0.000000	T	0.76478	0.3993	L	0.53729	1.69	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77004	0.989;0.988	T	0.74890	-0.3510	9	0.48119	T	0.1	-24.9191	19.4929	0.95059	0.0:1.0:0.0:0.0	.	289;289	Q53FD2;P57060	.;RWD2B_HUMAN	R	289	.	ENSP00000418693:G289R	G	-	1	0	RWDD2B	29300704	1.000000	0.71417	1.000000	0.80357	0.039000	0.13416	7.320000	0.79064	2.835000	0.97688	0.650000	0.86243	GGA		0.393	RWDD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171858.1		
HUNK	30811	broad.mit.edu	37	21	33371338	33371338	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr21:33371338G>A	ENST00000270112.2	+	11	2346	c.1986G>A	c.(1984-1986)cgG>cgA	p.R662R		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	662					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R662R(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						GCCGAGGCCGGTTCCCTATGA	0.627																																					p.R662R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1986A	21						.						47.0	51.0	50.0					21																	33371338		2203	4300	6503	32293209	SO:0001819	synonymous_variant	30811	exon11			AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"""hormonally upregulated Neu-associated kinase"""			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.1986G>A	21.37:g.33371338G>A			32293209	NM_014586		Silent	SNP	ENST00000270112.2	37	CCDS13610.1																																																																																				0.627	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586	
EVA1C	59271	broad.mit.edu	37	21	33825633	33825633	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr21:33825633A>G	ENST00000300255.2	+	2	647	c.174A>G	c.(172-174)aaA>aaG	p.K58K	EVA1C_ENST00000382699.3_Silent_p.K58K|EVA1C_ENST00000401402.3_Silent_p.K58K	NM_058187.3	NP_478067.2	P58658	EVA1C_HUMAN	eva-1 homolog C (C. elegans)	58						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.K58K(1)									ACCTAACCAAACTCCTGCAAA	0.507											OREG0003572	type=REGULATORY REGION|Gene=C21orf63|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.K58K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A174G	21						.						38.0	35.0	36.0					21																	33825633		2203	4300	6503	32747504	SO:0001819	synonymous_variant	59271	exon2			AF358258	CCDS13614.1, CCDS68186.1	21q22.11	2012-11-05	2012-11-05	2012-11-05	ENSG00000166979	ENSG00000166979			13239	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 64"", ""chromosome 21 open reading frame 63"", ""family with sequence similarity 176, member C"""	C21orf64, C21orf63, FAM176C		11707072, 19470522	Standard	NM_058187		Approved	B18, PRED34, B19	uc002ypr.1	P58658	OTTHUMG00000064922	ENST00000300255.2:c.174A>G	21.37:g.33825633A>G		843	32747504	NM_058187	A6ND58|Q8IXZ0	Silent	SNP	ENST00000300255.2	37	CCDS13614.1																																																																																				0.507	EVA1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139403.1	NM_058187	
UMODL1	89766	broad.mit.edu	37	21	43543114	43543114	+	Missense_Mutation	SNP	G	G	A	rs201855268|rs138728872	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr21:43543114G>A	ENST00000408910.2	+	17	3001	c.3001G>A	c.(3001-3003)Gcc>Acc	p.A1001T	UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400427.1_Missense_Mutation_p.A1057T|UMODL1_ENST00000400424.2_Missense_Mutation_p.A929T|UMODL1_ENST00000408989.2_Missense_Mutation_p.A1129T	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1001	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)	p.A929T(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GGTGGTTGTCGCCATCCAGAA	0.622																																					p.A1057T	Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3169A	21						.						84.0	91.0	89.0					21																	43543114		2169	4266	6435	42416183	SO:0001583	missense	89766	exon16				CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.3001G>A	21.37:g.43543114G>A	ENSP00000386147:p.Ala1001Thr		42416183	NM_001199527	C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.272409	0.23221	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	3.13	0.274	0.15654	Zona pellucida sperm-binding protein (3);	1.345410	0.05541	N	0.565800	T	0.67135	0.2861	L	0.33485	1.01	0.09310	N	0.999995	B;B	0.32350	0.366;0.279	B;B	0.21360	0.034;0.029	T	0.51036	-0.8756	9	.	.	.	-5.8068	6.8413	0.23965	0.4274:0.0:0.5726:0.0	.	1129;1001	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	T	1057;929;1129;1001	ENSP00000383279:A1057T;ENSP00000383276:A929T;ENSP00000386126:A1129T;ENSP00000386147:A1001T	.	A	+	1	0	UMODL1	42416183	0.064000	0.20934	0.024000	0.17045	0.868000	0.49771	0.144000	0.16135	0.045000	0.15804	0.313000	0.20887	GCC		0.622	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2		
TRPM2	7226	broad.mit.edu	37	21	45786639	45786639	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr21:45786639C>T	ENST00000397928.1	+	4	871	c.426C>T	c.(424-426)taC>taT	p.Y142Y	TRPM2_ENST00000300481.9_Silent_p.Y142Y|TRPM2_ENST00000397932.2_Silent_p.Y142Y|TRPM2_ENST00000300482.5_Silent_p.Y142Y	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	142					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)	p.Y142Y(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TCCCGCAGTACGTCCGAGTCT	0.647																																					p.Y142Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C426T	21						.						68.0	60.0	63.0					21																	45786639		2203	4300	6503	44611067	SO:0001819	synonymous_variant	7226	exon4			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.426C>T	21.37:g.45786639C>T			44611067	NM_003307	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	ENST00000397928.1	37	CCDS13710.1																																																																																				0.647	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307	
TSPEAR	54084	broad.mit.edu	37	21	45947308	45947308	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr21:45947308C>A	ENST00000323084.4	-	7	1081	c.1016G>T	c.(1015-1017)gGg>gTg	p.G339V	TSPEAR_ENST00000397916.1_Missense_Mutation_p.G271V	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	339					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)		p.G339V(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CACAAAGAGCCCCACCTGAGG	0.542																																					p.G339V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1016T	21						.						253.0	217.0	229.0					21																	45947308		2203	4300	6503	44771736	SO:0001583	missense	54084	exon7			AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.1016G>T	21.37:g.45947308C>A	ENSP00000321987:p.Gly339Val		44771736	NM_144991		Missense_Mutation	SNP	ENST00000323084.4	37	CCDS13712.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.331146	0.60853	.	.	ENSG00000175894	ENST00000323084;ENST00000397918;ENST00000397916;ENST00000341581	T;T	0.15834	2.39;2.41	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.45357	0.1338	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.49606	-0.8922	10	0.87932	D	0	-10.5364	18.4736	0.90783	0.0:1.0:0.0:0.0	.	339	Q8WU66	TSEAR_HUMAN	V	339;192;271;340	ENSP00000321987:G339V;ENSP00000381012:G271V	ENSP00000321987:G339V	G	-	2	0	TSPEAR	44771736	1.000000	0.71417	1.000000	0.80357	0.144000	0.21451	7.100000	0.76989	2.355000	0.79922	0.563000	0.77884	GGG		0.542	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991	
PCNT	5116	broad.mit.edu	37	21	47773208	47773208	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr21:47773208G>A	ENST00000359568.5	+	10	1754	c.1647G>A	c.(1645-1647)agG>agA	p.R549R	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	549	Glu-rich.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)		p.R549R(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGGGGGCGAGGGAAGATGCTC	0.498																																					p.R549R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1647A	21						.						69.0	76.0	73.0					21																	47773208		2203	4300	6503	46597636	SO:0001819	synonymous_variant	5116	exon10			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.1647G>A	21.37:g.47773208G>A			46597636	NM_006031	O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	CCDS33592.1																																																																																				0.498	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031	
OR11H1	81061	broad.mit.edu	37	22	16449126	16449126	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr22:16449126G>T	ENST00000252835.4	-	1	679	c.679C>A	c.(679-681)Ctc>Atc	p.L227I		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L227I(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		ATAATAAAGAGGAAGTTACCA	0.433																																					p.L227I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C679A	22						.						59.0	60.0	60.0					22																	16449126		2201	4294	6495	14829126	SO:0001583	missense	81061	exon1			AP000535, AF399611	CCDS74807.1	22q11.1	2012-08-09			ENSG00000130538	ENSG00000130538		"""GPCR / Class A : Olfactory receptors"""	15404	protein-coding gene	gene with protein product						12213199	Standard	NM_001005239		Approved	OR22-1	uc011agd.2	Q8NG94	OTTHUMG00000030069	ENST00000252835.4:c.679C>A	22.37:g.16449126G>T	ENSP00000252835:p.Leu227Ile		14829126	NM_001005239	Q6IEX0|Q96R32	Missense_Mutation	SNP	ENST00000252835.4	37	CCDS33594.1	.	.	.	.	.	.	.	.	.	.	g	8.379	0.837069	0.16891	.	.	ENSG00000130538	ENST00000252835	T	0.38401	1.14	1.88	-3.08	0.05347	GPCR, rhodopsin-like superfamily (1);	0.939339	0.08699	N	0.906731	T	0.28995	0.0720	L	0.54323	1.7	0.09310	N	1	B	0.28900	0.227	B	0.32864	0.154	T	0.39961	-0.9588	10	0.46703	T	0.11	.	3.5012	0.07673	0.5266:0.2219:0.2515:0.0	.	227	Q8NG94	O11H1_HUMAN	I	227	ENSP00000252835:L227I	ENSP00000252835:L227I	L	-	1	0	OR11H1	14829126	0.000000	0.05858	0.941000	0.38009	0.871000	0.50021	-0.379000	0.07437	-0.308000	0.08792	0.368000	0.22195	CTC		0.433	OR11H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074923.2	NM_001005239	
DGCR8	54487	broad.mit.edu	37	22	20073954	20073954	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr22:20073954T>C	ENST00000351989.3	+	2	897	c.468T>C	c.(466-468)agT>agC	p.S156S	MIR1306_ENST00000408439.1_RNA|DGCR8_ENST00000407755.1_Silent_p.S156S|DGCR8_ENST00000383024.2_Silent_p.S156S|MIR3618_ENST00000580330.1_RNA	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	156	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)	p.S156S(1)		NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					GCCCTGTCAGTGGGGACGTGC	0.592																																					p.S156S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T468C	22						.						142.0	127.0	132.0					22																	20073954		2203	4300	6503	18453954	SO:0001819	synonymous_variant	54487	exon2			AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.468T>C	22.37:g.20073954T>C			18453954	NM_001190326	B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Silent	SNP	ENST00000351989.3	37	CCDS13773.1																																																																																				0.592	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1		
ZNF74	7625	broad.mit.edu	37	22	20755613	20755613	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr22:20755613C>T	ENST00000400451.2	+	4	808	c.294C>T	c.(292-294)ggC>ggT	p.G98G	ZNF74_ENST00000403682.3_Nonsense_Mutation_p.R70*|ZNF74_ENST00000405993.1_Intron|ZNF74_ENST00000357502.5_Nonsense_Mutation_p.R104*|ZNF74_ENST00000356671.5_Silent_p.G98G	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	98	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G98G(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TGGAACGAGGCGAGGAGCCAT	0.637																																					p.G98G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C294T	22						.						35.0	38.0	37.0					22																	20755613		2077	4229	6306	19085613	SO:0001819	synonymous_variant	7625	exon4			X71623	CCDS42982.1, CCDS58794.1	22q11.2	2013-01-08	2006-05-12		ENSG00000185252	ENSG00000185252		"""Zinc fingers, C2H2-type"", ""-"""	13144	protein-coding gene	gene with protein product		194548	"""zinc finger protein 74 (Cos52)"""			1639391, 10591208	Standard	NM_003426		Approved	Cos52, Zfp520, ZNF520	uc010gsm.4	Q16587	OTTHUMG00000150687	ENST00000400451.2:c.294C>T	22.37:g.20755613C>T			19085613	NM_003426	B5MCE3|B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07	Silent	SNP	ENST00000400451.2	37	CCDS42982.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240539	0.79912	.	.	ENSG00000185252	ENST00000403682;ENST00000357502	.	.	.	3.78	-7.56	0.01322	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.8327	0.29353	0.0918:0.1164:0.0913:0.7005	.	.	.	.	X	70;104	.	ENSP00000350101:R104X	R	+	1	2	ZNF74	19085613	0.000000	0.05858	0.062000	0.19696	0.106000	0.19336	-5.153000	0.00146	-2.888000	0.00316	-1.202000	0.01658	CGA		0.637	ZNF74-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319648.2	NM_003426	
HIC2	23119	broad.mit.edu	37	22	21800926	21800926	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr22:21800926G>A	ENST00000443632.2	+	2	2114	c.1742G>A	c.(1741-1743)cGt>cAt	p.R581H	HIC2_ENST00000407598.2_Missense_Mutation_p.R581H|HIC2_ENST00000407464.2_Missense_Mutation_p.R581H			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	581					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.R581H(1)		NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				GAGCACATGCGTGTGCACTCG	0.642																																					p.R581H	NSCLC(23;437 858 2282 27947 40366)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1742A	22						.						74.0	64.0	67.0					22																	21800926		2203	4300	6503	20130926	SO:0001583	missense	23119	exon3			AB028943	CCDS13789.1	22q11.21	2013-01-09			ENSG00000169635	ENSG00000169635		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18595	protein-coding gene	gene with protein product		607712				11554746	Standard	NM_015094		Approved	KIAA1020, HRG22, ZBTB30, ZNF907	uc002zur.4	Q96JB3	OTTHUMG00000150781	ENST00000443632.2:c.1742G>A	22.37:g.21800926G>A	ENSP00000387757:p.Arg581His		20130926	NM_015094	Q504T6|Q96KR3|Q9NSM9|Q9UPX9	Missense_Mutation	SNP	ENST00000443632.2	37	CCDS13789.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790237	0.90367	.	.	ENSG00000169635	ENST00000407464;ENST00000407598;ENST00000443632	T;T;T	0.25749	1.78;1.78;1.78	4.79	4.79	0.61399	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.44222	0.1283	L	0.49699	1.58	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	T	0.37549	-0.9701	10	0.87932	D	0	.	15.4344	0.75133	0.0:0.0:1.0:0.0	.	581	Q96JB3	HIC2_HUMAN	H	581	ENSP00000385319:R581H;ENSP00000384889:R581H;ENSP00000387757:R581H	ENSP00000385319:R581H	R	+	2	0	HIC2	20130926	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	9.547000	0.98100	2.503000	0.84419	0.558000	0.71614	CGT		0.642	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320061.2		
PPIL2	23759	broad.mit.edu	37	22	22036780	22036780	+	Missense_Mutation	SNP	G	G	A	rs201854982	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr22:22036780G>A	ENST00000335025.8	+	8	533	c.442G>A	c.(442-444)Gag>Aag	p.E148K	PPIL2_ENST00000492445.2_Missense_Mutation_p.E148K|PPIL2_ENST00000412327.1_Missense_Mutation_p.E148K|PPIL2_ENST00000406385.1_Missense_Mutation_p.E148K|PPIL2_ENST00000456792.2_Missense_Mutation_p.E127K|PPIL2_ENST00000398831.3_Missense_Mutation_p.E148K					peptidylprolyl isomerase (cyclophilin)-like 2									p.E148K(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					GCTGACCGACGAGCCCTTCTC	0.602													G|||	3	0.000599042	0.0	0.0	5008	,	,		18626	0.003		0.0	False		,,,				2504	0.0				p.E148K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G442A	22						.	G	LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	110.0	88.0	95.0		442,442,442	3.9	1.0	22		95	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	PPIL2	NM_014337.3,NM_148175.2,NM_148176.2	56,56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	148/521,148/521,148/528	22036780	1,13005	2203	4300	6503	20366780	SO:0001583	missense	23759	exon8				CCDS13793.1	22q11.21	2013-01-29			ENSG00000100023	ENSG00000100023		"""U-box domain containing"""	9261	protein-coding gene	gene with protein product	"""U-box domain containing 7"""	607588				10591208	Standard	NM_014337		Approved	UBOX7, CYC4, Cyp-60	uc002zvh.4	Q13356	OTTHUMG00000030174	ENST00000335025.8:c.442G>A	22.37:g.22036780G>A	ENSP00000334553:p.Glu148Lys		20366780	NM_148176		Missense_Mutation	SNP	ENST00000335025.8	37	CCDS13793.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	33	5.218966	0.95104	0.0	1.16E-4	ENSG00000100023	ENST00000412327;ENST00000335025;ENST00000398831;ENST00000492445;ENST00000406385;ENST00000456792	T;T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67;1.67	4.92	3.89	0.44902	.	0.000000	0.85682	D	0.000000	T	0.45856	0.1363	M	0.71920	2.185	0.80722	D	1	P;P;D	0.57257	0.896;0.873;0.979	P;B;P	0.55112	0.563;0.286;0.769	T	0.47302	-0.9128	10	0.54805	T	0.06	.	12.982	0.58570	0.079:0.0:0.921:0.0	.	127;148;148	E7EW80;Q13356-2;Q13356	.;.;PPIL2_HUMAN	K	148;148;148;148;148;127	ENSP00000390427:E148K;ENSP00000334553:E148K;ENSP00000381812:E148K;ENSP00000445312:E148K;ENSP00000384299:E148K;ENSP00000396228:E127K	ENSP00000334553:E148K	E	+	1	0	PPIL2	20366780	1.000000	0.71417	0.983000	0.44433	0.928000	0.56348	7.687000	0.84139	2.470000	0.83445	0.579000	0.79373	GAG		0.602	PPIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075028.4		
BCR	613	broad.mit.edu	37	22	23613759	23613759	+	Missense_Mutation	SNP	C	C	T	rs201579887		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr22:23613759C>T	ENST00000305877.8	+	6	2652	c.1901C>T	c.(1900-1902)aCg>aTg	p.T634M	BCR_ENST00000359540.3_Missense_Mutation_p.T634M	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	634	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.T634M(1)	BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	AAGGATCCAACGACCAAGAAC	0.527			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								C|||	1	0.000199681	0.0	0.0	5008	,	,		22284	0.0		0.001	False		,,,				2504	0.0				p.T634M			Dom	yes		22	22q11.21	613	breakpoint cluster region		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1901T	22						.						123.0	92.0	102.0					22																	23613759		2203	4300	6503	21943759	SO:0001583	missense	613	exon6				CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.1901C>T	22.37:g.23613759C>T	ENSP00000303507:p.Thr634Met		21943759	NM_021574	P78501|Q12842|Q4LE80|Q6NZI3	Missense_Mutation	SNP	ENST00000305877.8	37	CCDS13806.1	.	.	.	.	.	.	.	.	.	.	C	7.927	0.739753	0.15642	.	.	ENSG00000186716	ENST00000305877;ENST00000359540;ENST00000334149;ENST00000427791	T;T;T	0.43294	0.95;0.95;0.95	5.34	2.12	0.27331	Dbl homology (DH) domain (5);	0.268001	0.41194	D	0.000925	T	0.30324	0.0761	L	0.39245	1.2	0.80722	D	1	B;P;P;P	0.38420	0.027;0.46;0.576;0.63	B;B;B;B	0.35470	0.042;0.153;0.129;0.203	T	0.06232	-1.0838	10	0.59425	D	0.04	.	8.7123	0.34391	0.0:0.7632:0.0:0.2368	.	223;299;634;634	B4E065;Q12843;P11274-2;P11274	.;.;.;BCR_HUMAN	M	634;634;299;118	ENSP00000303507:T634M;ENSP00000352535:T634M;ENSP00000396531:T118M	ENSP00000303507:T634M	T	+	2	0	BCR	21943759	0.971000	0.33674	0.003000	0.11579	0.042000	0.13812	4.041000	0.57339	0.347000	0.23924	-0.140000	0.14226	ACG		0.527	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327	
BCR	613	broad.mit.edu	37	22	23627225	23627225	+	Missense_Mutation	SNP	C	C	T	rs189814131		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr22:23627225C>T	ENST00000305877.8	+	10	2994	c.2243C>T	c.(2242-2244)aCg>aTg	p.T748M	BCR_ENST00000359540.3_Missense_Mutation_p.T748M	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	748	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.T748M(1)	BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	CCCAGCAAAACGCAGCAGTAT	0.557			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								C|||	1	0.000199681	0.0	0.0	5008	,	,		22878	0.001		0.0	False		,,,				2504	0.0				p.T748M			Dom	yes		22	22q11.21	613	breakpoint cluster region		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2243T	22						.						118.0	86.0	97.0					22																	23627225		2203	4300	6503	21957225	SO:0001583	missense	613	exon10				CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.2243C>T	22.37:g.23627225C>T	ENSP00000303507:p.Thr748Met		21957225	NM_021574	P78501|Q12842|Q4LE80|Q6NZI3	Missense_Mutation	SNP	ENST00000305877.8	37	CCDS13806.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.92	2.678197	0.47886	.	.	ENSG00000186716	ENST00000305877;ENST00000359540;ENST00000334149;ENST00000427791	T;T;T	0.75589	-0.95;-0.95;2.72	5.06	0.226	0.15353	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.342026	0.32624	N	0.005847	T	0.65811	0.2727	L	0.34521	1.04	0.80722	D	1	P;D;D;D;D	0.61697	0.788;0.99;0.967;0.98;0.967	B;P;P;P;P	0.53809	0.404;0.735;0.735;0.616;0.627	T	0.63972	-0.6516	10	0.72032	D	0.01	.	2.5154	0.04667	0.2531:0.3487:0.3038:0.0944	.	337;413;366;748;748	B4E065;Q12843;Q12844;P11274-2;P11274	.;.;.;.;BCR_HUMAN	M	748;748;413;232	ENSP00000303507:T748M;ENSP00000352535:T748M;ENSP00000396531:T232M	ENSP00000303507:T748M	T	+	2	0	BCR	21957225	0.948000	0.32251	0.999000	0.59377	0.961000	0.63080	1.238000	0.32707	0.611000	0.30052	0.655000	0.94253	ACG		0.557	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327	
LRP5L	91355	broad.mit.edu	37	22	25753241	25753241	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr22:25753241G>T	ENST00000402785.2	-	2	515	c.419C>A	c.(418-420)gCc>gAc	p.A140D	LRP5L_ENST00000402859.2_Missense_Mutation_p.A140D|LRP5L_ENST00000444995.3_Missense_Mutation_p.A140D			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	140					canonical Wnt signaling pathway (GO:0060070)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)		Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.A140D(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						GTCTGTCTTGGCATCTCCCCA	0.652																																					p.A140D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C419A	22						.						122.0	96.0	105.0					22																	25753241		2201	4300	6501	24083241	SO:0001583	missense	91355	exon4			AL137651	CCDS33626.1	22q11.23	2013-05-30			ENSG00000100068	ENSG00000100068			25323	protein-coding gene	gene with protein product							Standard	NM_182492		Approved	DKFZp434O0213	uc011ajz.2	A4QPB2	OTTHUMG00000150900	ENST00000402785.2:c.419C>A	22.37:g.25753241G>T	ENSP00000384562:p.Ala140Asp		24083241	NM_001135772	B0QYF3|B0QYF4|B2RPI5	Missense_Mutation	SNP	ENST00000402785.2	37	CCDS33626.1	.	.	.	.	.	.	.	.	.	.	g	13.79	2.342172	0.41498	.	.	ENSG00000100068	ENST00000402859;ENST00000444995;ENST00000402785	D;D;D	0.96491	-4.03;-4.03;-4.03	2.25	2.25	0.28309	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	D	0.98406	0.9470	H	0.96111	3.77	0.54753	D	0.999988	D;D	0.76494	0.998;0.999	D;D	0.74023	0.925;0.982	D	0.98346	1.0541	9	0.87932	D	0	.	10.6235	0.45493	0.0:0.0:1.0:0.0	.	140;140	A4QPB2-2;A4QPB2	.;LRP5L_HUMAN	D	140	ENSP00000384291:A140D;ENSP00000407283:A140D;ENSP00000384562:A140D	ENSP00000384562:A140D	A	-	2	0	LRP5L	24083241	1.000000	0.71417	0.998000	0.56505	0.116000	0.19942	8.776000	0.91776	1.564000	0.49628	0.173000	0.16961	GCC		0.652	LRP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320477.2	NM_182492	
GAL3ST1	9514	broad.mit.edu	37	22	30951318	30951318	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr22:30951318G>A	ENST00000402321.1	-	3	1211	c.894C>T	c.(892-894)acC>acT	p.T298T	GAL3ST1_ENST00000406361.1_Silent_p.T298T|GAL3ST1_ENST00000443111.2_Silent_p.T298T|GAL3ST1_ENST00000406955.1_Silent_p.T298T|GAL3ST1_ENST00000338911.5_Silent_p.T298T|GAL3ST1_ENST00000401975.1_Silent_p.T298T|GAL3ST1_ENST00000402369.1_Silent_p.T298T			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	298					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)	p.T298T(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						TGTTCCAGGCGGTGGCGCGCC	0.692																																					p.T298T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C894T	22						.						24.0	29.0	27.0					22																	30951318		2200	4297	6497	29281318	SO:0001819	synonymous_variant	9514	exon4			D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"""Sulfotransferases, membrane-bound"""	24240	protein-coding gene	gene with protein product	"""cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"""	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.894C>T	22.37:g.30951318G>A			29281318	NM_004861	Q96C63	Silent	SNP	ENST00000402321.1	37	CCDS13879.1																																																																																				0.692	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	NM_004861	
SFI1	9814	broad.mit.edu	37	22	31971354	31971354	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr22:31971354C>T	ENST00000400288.2	+	10	1165	c.1060C>T	c.(1060-1062)Cgc>Tgc	p.R354C	SFI1_ENST00000432498.1_Missense_Mutation_p.R354C|SFI1_ENST00000443326.1_Missense_Mutation_p.R272C|SFI1_ENST00000400289.1_Missense_Mutation_p.R272C|SFI1_ENST00000540643.1_Missense_Mutation_p.R330C|SFI1_ENST00000414585.1_Missense_Mutation_p.R201C|SFI1_ENST00000443011.1_Missense_Mutation_p.R201C	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	354					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.R354C(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						GGCCCTGCGGCGCGCCTTTAC	0.557																																					p.R354C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1060T	22						.						70.0	75.0	73.0					22																	31971354		2022	4185	6207	30301354	SO:0001583	missense	9814	exon10			AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.1060C>T	22.37:g.31971354C>T	ENSP00000383145:p.Arg354Cys		30301354	NM_014775	A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	ENST00000400288.2	37	CCDS43004.1	.	.	.	.	.	.	.	.	.	.	C	7.730	0.699002	0.15106	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000421060;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288	T;T;T;T;T;T;T	0.62232	2.5;2.63;0.04;0.04;0.04;0.04;0.04	5.49	-0.673	0.11373	.	0.226037	0.36854	N	0.002380	T	0.31857	0.0810	N	0.08118	0	0.42362	D	0.992417	B;B;B;B;B;B	0.29115	0.233;0.048;0.008;0.099;0.007;0.024	B;B;B;B;B;B	0.23716	0.048;0.016;0.004;0.022;0.007;0.022	T	0.02004	-1.1231	10	0.42905	T	0.14	.	4.1446	0.10210	0.5361:0.27:0.1113:0.0827	.	330;272;272;354;354;330	A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3;A8K8P3-5	.;.;.;.;SFI1_HUMAN;.	C	354;330;272;330;201;201;272;354	ENSP00000402679:R354C;ENSP00000443025:R330C;ENSP00000416469:R272C;ENSP00000397148:R201C;ENSP00000401199:R201C;ENSP00000383146:R272C;ENSP00000383145:R354C	ENSP00000383145:R354C	R	+	1	0	SFI1	30301354	0.672000	0.27530	0.618000	0.29105	0.012000	0.07955	-0.218000	0.09240	-0.351000	0.08249	-0.137000	0.14449	CGC		0.557	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775	
DEPDC5	9681	broad.mit.edu	37	22	32239747	32239747	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr22:32239747A>G	ENST00000382112.3	+	28	2793	c.2723A>G	c.(2722-2724)aAg>aGg	p.K908R	DEPDC5_ENST00000400248.2_Missense_Mutation_p.K908R|DEPDC5_ENST00000535622.1_Missense_Mutation_p.K839R|DEPDC5_ENST00000266091.3_Missense_Mutation_p.K917R|DEPDC5_ENST00000400249.2_Missense_Mutation_p.K908R|DEPDC5_ENST00000382111.2_Missense_Mutation_p.K917R|DEPDC5_ENST00000400246.1_Missense_Mutation_p.K917R|DEPDC5_ENST00000382105.2_Missense_Mutation_p.K839R	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	917					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)	p.K908R(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GAGGAGTACAAGTGGAATTAC	0.512																																					p.K908R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2723G	22						.						80.0	77.0	78.0					22																	32239747		1872	4096	5968	30569747	SO:0001583	missense	9681	exon29			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.2723A>G	22.37:g.32239747A>G	ENSP00000371546:p.Lys908Arg		30569747	NM_014662	A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.000978	0.93227	.	.	ENSG00000100150	ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	T;T;T;T;T;T;T;T	0.32272	1.49;1.92;1.92;1.91;1.46;1.92;1.91;1.92	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.48786	0.1519	L	0.44542	1.39	0.80722	D	1	B;D;D;D;D;D	0.76494	0.216;0.999;0.998;0.998;0.995;0.996	B;D;D;D;P;P	0.78314	0.234;0.937;0.991;0.941;0.852;0.874	T	0.47355	-0.9124	10	0.72032	D	0.01	.	15.5473	0.76112	1.0:0.0:0.0:0.0	.	238;917;839;917;908;908	B4DSS1;B9EGN9;B4DH93;O75140-4;A8MPX9;O75140	.;.;.;.;.;DEPD5_HUMAN	R	839;917;908;839;917;839;908;917;908	ENSP00000440210:K839R;ENSP00000266091:K917R;ENSP00000383108:K908R;ENSP00000383105:K917R;ENSP00000371539:K839R;ENSP00000371546:K908R;ENSP00000371545:K917R;ENSP00000383107:K908R	ENSP00000266091:K917R	K	+	2	0	DEPDC5	30569747	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.327000	0.90012	2.274000	0.75844	0.533000	0.62120	AAG		0.512	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662	
SLC5A4	6527	broad.mit.edu	37	22	32643472	32643472	+	Missense_Mutation	SNP	G	G	A	rs138159172	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr22:32643472G>A	ENST00000266086.4	-	5	414	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	135					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.R135W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCACCAAACCGCTTCTTGAGA	0.488																																					p.R135W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C403T	22						.	G	TRP/ARG	0,4406		0,0,2203	105.0	84.0	91.0		403	-1.6	1.0	22	dbSNP_134	91	2,8598	2.2+/-6.3	0,2,4298	no	missense	SLC5A4	NM_014227.2	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	135/660	32643472	2,13004	2203	4300	6503	30973472	SO:0001583	missense	6527	exon5			U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"""Solute carriers"""	11039	protein-coding gene	gene with protein product			"""solute carrier family 5 (low affinity glucose cotransporter), member 4"""			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.403C>T	22.37:g.32643472G>A	ENSP00000266086:p.Arg135Trp		30973472	NM_014227	O15279	Missense_Mutation	SNP	ENST00000266086.4	37	CCDS13903.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643695	0.67244	0.0	2.33E-4	ENSG00000100191	ENST00000266086	D	0.96200	-3.94	5.17	-1.6	0.08426	.	0.000000	0.85682	D	0.000000	D	0.98257	0.9423	H	0.97365	3.99	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.98645	1.0677	10	0.87932	D	0	.	14.4751	0.67541	0.0:0.0:0.3683:0.6317	.	135	Q9NY91	SC5A4_HUMAN	W	135	ENSP00000266086:R135W	ENSP00000266086:R135W	R	-	1	2	SLC5A4	30973472	1.000000	0.71417	0.998000	0.56505	0.864000	0.49448	1.333000	0.33816	0.004000	0.14682	-0.274000	0.10170	CGG		0.488	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315724.1	NM_014227	
MCM5	4174	broad.mit.edu	37	22	35808651	35808652	+	Missense_Mutation	DNP	GC	GC	TT	rs373582533		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	GC	GC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr22:35808651_35808652GC>TT	ENST00000216122.4	+	8	1222_1223	c.1068_1069GC>TT	c.(1066-1071)ctGCtc>ctTTtc	p.L357F	MCM5_ENST00000465557.1_3'UTR|MCM5_ENST00000382011.5_Missense_Mutation_p.L314F	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	357	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.L356>?(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						TTGCCTGCCTGCTCTTTGGGGG	0.564																																					.												.	.	1	Complex(1)	large_intestine(1)	c.1068_1069TT	22						.																																			34138652	SO:0001583	missense	4174	exon8				CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"""minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)"", ""MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"""	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	Exception_encountered	22.37:g.35808651_35808652delinsTT	ENSP00000216122:p.Leu357Phe		34138651	NM_006739	O60785|Q14578|Q9BTJ4|Q9BWL8	Missense_Mutation	DNP	ENST00000216122.4	37	CCDS13915.1																																																																																				0.564	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3		
RBFOX2	23543	broad.mit.edu	37	22	36140242	36140242	+	Nonstop_Mutation	SNP	T	T	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr22:36140242T>A	ENST00000405409.2	-	12	1472	c.1104A>T	c.(1102-1104)tgA>tgT	p.*368C	RBFOX2_ENST00000414461.2_Nonstop_Mutation_p.*371C|RBFOX2_ENST00000359369.4_Nonstop_Mutation_p.*371C|RBFOX2_ENST00000397303.2_3'UTR|RBFOX2_ENST00000416721.2_3'UTR|RBFOX2_ENST00000449924.2_3'UTR|RBFOX2_ENST00000262829.7_3'UTR	NM_001031695.2|NM_001082576.1|NM_001082577.1|NM_014309.2	NP_001026865.1|NP_001076045.1|NP_001076046.1|NP_055124.1	O43251	RFOX2_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 2	0	Ala-rich.				dendrite morphogenesis (GO:0048813)|intracellular estrogen receptor signaling pathway (GO:0030520)|mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of cell proliferation (GO:0042127)|regulation of definitive erythrocyte differentiation (GO:0010724)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.*368C(1)		endometrium(4)|large_intestine(7)|lung(7)	18						TGCAGGGGTCTCACGTCACTT	0.438																																					p.X368C												.	.	1	Nonstop extension(1)	large_intestine(1)	c.A1104T	22						.						36.0	37.0	37.0					22																	36140242		2203	4300	6503	34470188	SO:0001578	stop_lost	23543	exon12			AL009266	CCDS13921.1, CCDS43013.1, CCDS46699.1, CCDS46700.1, CCDS46701.1	22q12-q13	2013-02-12	2010-09-10	2010-09-10	ENSG00000100320	ENSG00000100320		"""RNA binding motif (RRM) containing"""	9906	protein-coding gene	gene with protein product	"""hexaribonucleotide binding protein 2"""	612149	"""RNA binding motif protein 9"""	RBM9			Standard	NM_014309		Approved	HNRBP2, FOX-2, HRNBP2	uc003aon.4	O43251	OTTHUMG00000150585	ENST00000405409.2:c.1104A>T	22.37:g.36140242T>A			34470188	NM_014309	A4F5G8|A8K5Z5|B0QYY8|B0QYY9|Q0PRL5|Q0VH35|Q5TF71|Q6IC09|Q8TD00|Q8WYB1|Q96DZ6|Q96NL7|Q9UGW4|Q9UH33	Nonstop_Mutation	SNP	ENST00000405409.2	37	CCDS13921.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.112167	0.77210	.	.	ENSG00000100320	ENST00000405409;ENST00000338644;ENST00000414461;ENST00000359369	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3798	0.83452	0.0:0.0:0.0:1.0	.	.	.	.	C	368;401;371;371	.	.	X	-	3	0	RBFOX2	34470188	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.505000	0.66981	2.271000	0.75665	0.533000	0.62120	TGA		0.438	RBFOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318976.3		
MYH9	4627	broad.mit.edu	37	22	36745257	36745257	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr22:36745257A>G	ENST00000216181.5	-	2	255	c.25T>C	c.(25-27)Tat>Cat	p.Y9H	MYH9_ENST00000401701.1_Missense_Mutation_p.Y9H	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	9					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.Y9H(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						ACATAGAGATACTTATCGGCA	0.507			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																												p.Y9H			Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T25C	22						.						55.0	55.0	55.0					22																	36745257		2203	4300	6503	35075203	SO:0001583	missense	4627	exon2	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.25T>C	22.37:g.36745257A>G	ENSP00000216181:p.Tyr9His		35075203	NM_002473	A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.891503	0.91889	.	.	ENSG00000100345	ENST00000216181;ENST00000401701;ENST00000456729	D;T;T	0.88509	-2.39;-1.49;-1.47	5.32	5.32	0.75619	.	0.061096	0.64402	D	0.000003	D	0.90198	0.6936	L	0.31065	0.9	0.58432	D	0.999992	D;P	0.63046	0.992;0.939	P;P	0.62649	0.905;0.615	D	0.91686	0.5362	10	0.87932	D	0	.	15.2804	0.73778	1.0:0.0:0.0:0.0	.	9;9	Q5BKV1;P35579	.;MYH9_HUMAN	H	9	ENSP00000216181:Y9H;ENSP00000384631:Y9H;ENSP00000414852:Y9H	ENSP00000216181:Y9H	Y	-	1	0	MYH9	35075203	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.339000	0.96797	2.016000	0.59253	0.460000	0.39030	TAT		0.507	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473	
EIF3D	8664	broad.mit.edu	37	22	36915530	36915530	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr22:36915530C>T	ENST00000216190.8	-	8	1003	c.633G>A	c.(631-633)acG>acA	p.T211T	EIF3D_ENST00000405442.1_Silent_p.T211T|EIF3D_ENST00000541106.1_Silent_p.T162T	NM_003753.3	NP_003744.1			eukaryotic translation initiation factor 3, subunit D									p.T211T(1)		cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						TCTCACTCCTCGTGGTGATGC	0.552																																					p.T211T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G633A	22						.						232.0	188.0	203.0					22																	36915530		2203	4300	6503	35245476	SO:0001819	synonymous_variant	8664	exon8			U54558	CCDS13930.1	22q13.1	2007-07-27	2007-07-27	2007-07-27	ENSG00000100353	ENSG00000100353			3278	protein-coding gene	gene with protein product		603915	"""eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDa"""	EIF3S7		9341143	Standard	NM_003753		Approved	eIF3-p66, eIF3-zeta, eIF3d	uc003apr.3	O15371	OTTHUMG00000150599	ENST00000216190.8:c.633G>A	22.37:g.36915530C>T			35245476	NM_003753		Silent	SNP	ENST00000216190.8	37	CCDS13930.1																																																																																				0.552	EIF3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319026.1		
NCF4	4689	broad.mit.edu	37	22	37272040	37272040	+	Intron	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr22:37272040G>A	ENST00000248899.6	+	9	942				NCF4_ENST00000397147.4_Missense_Mutation_p.A325T	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa						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)|immune response (GO:0006955)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of catalytic activity (GO:0043085)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|membrane (GO:0016020)|NADPH oxidase complex (GO:0043020)|phagolysosome (GO:0032010)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein dimerization activity (GO:0046983)|superoxide-generating NADPH oxidase activator activity (GO:0016176)	p.A325T(1)		cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16					Dextromethorphan(DB00514)	CCAGCCTGATGCCTCCTTACT	0.587																																					p.A325T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G973A	22						.						29.0	29.0	29.0					22																	37272040		2203	4300	6503	35601986	SO:0001627	intron_variant	4689	exon8			X77094	CCDS13934.1, CCDS13935.1	22q13.1	2014-09-17	2002-08-29		ENSG00000100365	ENSG00000100365			7662	protein-coding gene	gene with protein product	"""neutrophil NADPH oxidase factor 4"""	601488	"""neutrophil cytosolic factor 4 (40kD)"""			8839867	Standard	NM_013416		Approved	p40phox, SH3PXD4	uc003apy.4	Q15080	OTTHUMG00000150548	ENST00000248899.6:c.759-31G>A	22.37:g.37272040G>A			35601986	NM_013416	A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Missense_Mutation	SNP	ENST00000248899.6	37	CCDS13934.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.39|15.39	2.820687|2.820687	0.50633|0.50633	.|.	.|.	ENSG00000100365|ENSG00000100365	ENST00000397147|ENST00000415063	T|.	0.60424|.	0.19|.	4.13|4.13	1.95|1.95	0.26073|0.26073	.|.	1.615180|.	0.03329|.	N|.	0.193093|.	T|T	0.32704|0.32704	0.0838|0.0838	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|.	0.17038|.	0.02|.	B|.	0.08055|.	0.003|.	T|T	0.22382|0.22382	-1.0218|-1.0218	8|4	.|.	.|.	.|.	0.0384|0.0384	7.184|7.184	0.25789|0.25789	0.2227:0.0:0.7773:0.0|0.2227:0.0:0.7773:0.0	.|.	325|.	A8K4F9|.	.|.	T|Y	325|188	ENSP00000380334:A325T|.	.|.	A|C	+|+	1|2	0|0	NCF4|NCF4	35601986|35601986	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.028000|0.028000	0.11728|0.11728	0.106000|0.106000	0.15354|0.15354	0.452000|0.452000	0.26830|0.26830	0.650000|0.650000	0.86243|0.86243	GCC|TGC		0.587	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318863.1	NM_000631	
KDELR3	11015	broad.mit.edu	37	22	38882385	38882385	+	IGR	SNP	T	T	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr22:38882385T>A	ENST00000216014.4	+	0	1728				DDX17_ENST00000444597.1_Missense_Mutation_p.D34V|DDX17_ENST00000381633.3_Missense_Mutation_p.D505V|DDX17_ENST00000396821.3_Missense_Mutation_p.D584V	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein retention in ER lumen (GO:0006621)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ER retention sequence binding (GO:0046923)	p.D582V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					GTCACACTCATCCTGATACAT	0.468																																					p.D584V	Ovarian(11;103 529 24120 28493 32980)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1751T	22						.						51.0	47.0	48.0					22																	38882385		2203	4300	6503	37212331	SO:0001628	intergenic_variant	10521	exon13			AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196			6306	protein-coding gene	gene with protein product							Standard	NM_006855		Approved		uc003avu.3	O43731	OTTHUMG00000153520		22.37:g.38882385T>A			37212331	NM_001098504	A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Missense_Mutation	SNP	ENST00000216014.4	37	CCDS13972.1	.	.	.	.	.	.	.	.	.	.	T	11.31	1.602293	0.28534	.	.	ENSG00000100201	ENST00000396821;ENST00000381633;ENST00000415748;ENST00000444597;ENST00000403230;ENST00000404499	T;T;T	0.28454	1.61;1.64;1.61	5.32	5.32	0.75619	.	0.313880	0.34268	N	0.004118	T	0.35038	0.0918	L	0.55481	1.735	0.80722	D	1	P;P;P	0.52061	0.824;0.82;0.95	B;B;P	0.45099	0.201;0.366;0.469	T	0.11591	-1.0581	10	0.41790	T	0.15	-14.6905	15.3006	0.73949	0.0:0.0:0.0:1.0	.	586;582;36	Q59F66;Q92841-4;Q9UQL5	.;.;.	V	584;505;36;34;582;586	ENSP00000380033:D584V;ENSP00000371046:D505V;ENSP00000385536:D582V	ENSP00000371046:D505V	D	-	2	0	DDX17	37212331	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.731000	0.68554	2.002000	0.58637	0.533000	0.62120	GAT		0.468	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331474.1		
RPL3	6122	broad.mit.edu	37	22	39709650	39709650	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr22:39709650T>C	ENST00000216146.4	-	8	1209	c.1036A>G	c.(1036-1038)Acc>Gcc	p.T346A	SNORD83A_ENST00000386747.1_RNA|SNORD83B_ENST00000386745.1_RNA|RPL3_ENST00000401609.1_Missense_Mutation_p.T294A|RPL3_ENST00000465618.1_5'UTR	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	346					cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.T346A(1)		breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)				Homoharringtonine(DB04865)	TTGCGGAGGGTGAGCACCCGC	0.577																																					p.T297A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A889G	22						.						222.0	224.0	223.0					22																	39709650		2203	4300	6503	38039596	SO:0001583	missense	6122	exon8			AB007166	CCDS13988.1	22q13	2011-04-06			ENSG00000100316	ENSG00000100316		"""L ribosomal proteins"""	10332	protein-coding gene	gene with protein product		604163				2891103, 9582194	Standard	NM_000967		Approved	L3	uc003axi.3	P39023	OTTHUMG00000151079	ENST00000216146.4:c.1036A>G	22.37:g.39709650T>C	ENSP00000346001:p.Thr346Ala		38039596	NM_001033853	B2RDV9|Q15548|Q5I0G0	Missense_Mutation	SNP	ENST00000216146.4	37	CCDS13988.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.554122	0.86231	.	.	ENSG00000100316	ENST00000401609;ENST00000216146	T;T	0.24350	1.86;1.86	5.45	5.45	0.79879	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.52805	0.1757	M	0.86651	2.83	0.80722	D	1	P;B;P;P	0.45240	0.732;0.059;0.525;0.854	P;B;B;P	0.56648	0.636;0.085;0.437;0.803	T	0.60188	-0.7312	10	0.66056	D	0.02	.	15.5198	0.75857	0.0:0.0:0.0:1.0	.	317;294;346;297	Q8TBW1;G5E9G0;P39023;B3KS36	.;.;RL3_HUMAN;.	A	294;346	ENSP00000386101:T294A;ENSP00000346001:T346A	ENSP00000346001:T346A	T	-	1	0	RPL3	38039596	1.000000	0.71417	0.216000	0.23742	0.995000	0.86356	8.035000	0.88872	2.074000	0.62210	0.459000	0.35465	ACC		0.577	RPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321196.1	NM_000967	
SLC25A17	10478	broad.mit.edu	37	22	41173075	41173075	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr22:41173075T>C	ENST00000435456.2	-	7	795	c.662A>G	c.(661-663)tAt>tGt	p.Y221C	SLC25A17_ENST00000402844.3_Missense_Mutation_p.Y139C|SLC25A17_ENST00000491545.1_5'UTR|SLC25A17_ENST00000542412.1_Missense_Mutation_p.Y148C|SLC25A17_ENST00000544408.1_Missense_Mutation_p.Y184C	NM_006358.2	NP_006349.1	O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17	221					ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|cellular lipid metabolic process (GO:0044255)|coenzyme A transmembrane transport (GO:0035349)|FAD transmembrane transport (GO:0035350)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|fatty acid transport (GO:0015908)|NAD transport (GO:0043132)|nucleotide transmembrane transport (GO:1901679)|small molecule metabolic process (GO:0044281)	integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|chaperone binding (GO:0051087)|coenzyme A transmembrane transporter activity (GO:0015228)|FAD transmembrane transporter activity (GO:0015230)|FMN transmembrane transporter activity (GO:0044610)|NAD transporter activity (GO:0051724)	p.Y221C(1)		central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						CTGCAGGGGATAGGTCACCGT	0.438																																					p.Y221C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A662G	22						.						93.0	77.0	83.0					22																	41173075		2203	4300	6503	39503021	SO:0001583	missense	10478	exon7			Y12860	CCDS14005.1, CCDS74868.1	22q13.2	2013-05-22	2002-08-29		ENSG00000100372	ENSG00000100372		"""Solute carriers"""	10987	protein-coding gene	gene with protein product	"""peroxisomal membrane protein (34kD)"""	606795	"""solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kD), member 17"""			9874197	Standard	NM_006358		Approved	PMP34	uc003azc.3	O43808	OTTHUMG00000151139	ENST00000435456.2:c.662A>G	22.37:g.41173075T>C	ENSP00000390722:p.Tyr221Cys		39503021	NM_006358	A8KA59|Q5TFL0|Q9UGW8|Q9UGY7	Missense_Mutation	SNP	ENST00000435456.2	37	CCDS14005.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.175119	0.78564	.	.	ENSG00000100372	ENST00000435456;ENST00000402844;ENST00000544408;ENST00000542412	T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48	5.65	5.65	0.86999	Mitochondrial carrier domain (2);	0.052206	0.85682	D	0.000000	D	0.91355	0.7273	M	0.92077	3.27	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.92913	0.6349	10	0.87932	D	0	-1.407	12.0312	0.53399	0.0:0.0691:0.0:0.9309	.	148;184;221	F5GYD1;B4DU97;O43808	.;.;PM34_HUMAN	C	221;139;184;148	ENSP00000390722:Y221C;ENSP00000385303:Y139C;ENSP00000438355:Y184C;ENSP00000446471:Y148C	ENSP00000385303:Y139C	Y	-	2	0	SLC25A17	39503021	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	3.888000	0.56204	2.281000	0.76405	0.528000	0.53228	TAT		0.438	SLC25A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321487.1	NM_006358	
SLC25A17	10478	broad.mit.edu	37	22	41175104	41175104	+	Silent	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr22:41175104A>T	ENST00000435456.2	-	5	493	c.360T>A	c.(358-360)acT>acA	p.T120T	SLC25A17_ENST00000402844.3_Silent_p.T38T|SLC25A17_ENST00000491545.1_5'UTR|SLC25A17_ENST00000542412.1_Silent_p.T47T|SLC25A17_ENST00000544408.1_Silent_p.T83T	NM_006358.2	NP_006349.1	O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17	120	Necessary for targeting to peroxisomes and interaction with PEX19.				ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|cellular lipid metabolic process (GO:0044255)|coenzyme A transmembrane transport (GO:0035349)|FAD transmembrane transport (GO:0035350)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|fatty acid transport (GO:0015908)|NAD transport (GO:0043132)|nucleotide transmembrane transport (GO:1901679)|small molecule metabolic process (GO:0044281)	integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|chaperone binding (GO:0051087)|coenzyme A transmembrane transporter activity (GO:0015228)|FAD transmembrane transporter activity (GO:0015230)|FMN transmembrane transporter activity (GO:0044610)|NAD transporter activity (GO:0051724)	p.T120T(1)		central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						CCCAGAGTGGAGTTGTTAGCA	0.383																																					p.T120T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T360A	22						.						113.0	98.0	103.0					22																	41175104		2203	4300	6503	39505050	SO:0001819	synonymous_variant	10478	exon5			Y12860	CCDS14005.1, CCDS74868.1	22q13.2	2013-05-22	2002-08-29		ENSG00000100372	ENSG00000100372		"""Solute carriers"""	10987	protein-coding gene	gene with protein product	"""peroxisomal membrane protein (34kD)"""	606795	"""solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kD), member 17"""			9874197	Standard	NM_006358		Approved	PMP34	uc003azc.3	O43808	OTTHUMG00000151139	ENST00000435456.2:c.360T>A	22.37:g.41175104A>T			39505050	NM_006358	A8KA59|Q5TFL0|Q9UGW8|Q9UGY7	Silent	SNP	ENST00000435456.2	37	CCDS14005.1																																																																																				0.383	SLC25A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321487.1	NM_006358	
EP300	2033	broad.mit.edu	37	22	41545897	41545897	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr22:41545897C>T	ENST00000263253.7	+	14	3731	c.2512C>T	c.(2512-2514)Cgt>Tgt	p.R838C		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	838					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.R838C(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGTACCTAGTCGTACCCCCAC	0.577			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																												p.R838C			Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2512T	22						.						108.0	67.0	81.0					22																	41545897		2203	4300	6503	39875843	SO:0001583	missense	2033	exon14	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.2512C>T	22.37:g.41545897C>T	ENSP00000263253:p.Arg838Cys		39875843	NM_001429	B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392480	0.62066	.	.	ENSG00000100393	ENST00000263253	D	0.83506	-1.73	6.08	6.08	0.98989	.	0.000000	0.42821	D	0.000660	T	0.82047	0.4952	N	0.08118	0	0.58432	D	0.999997	D	0.89917	1.0	P	0.60117	0.869	D	0.83857	0.0266	10	0.45353	T	0.12	-8.7368	20.6721	0.99693	0.0:1.0:0.0:0.0	.	838	Q09472	EP300_HUMAN	C	838	ENSP00000263253:R838C	ENSP00000263253:R838C	R	+	1	0	EP300	39875843	1.000000	0.71417	0.999000	0.59377	0.929000	0.56500	4.030000	0.57260	2.894000	0.99253	0.591000	0.81541	CGT		0.577	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429	
TEF	7008	broad.mit.edu	37	22	41783365	41783365	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr22:41783365G>T	ENST00000266304.4	+	2	284	c.168G>T	c.(166-168)aaG>aaT	p.K56N	TEF_ENST00000406644.3_Missense_Mutation_p.K26N	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN	thyrotrophic embryonic factor	56					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K56N(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						ATAAGGAAAAGGGGAAGGAAA	0.557																																					p.K26N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G78T	22						.						59.0	60.0	59.0					22																	41783365		2203	4300	6503	40113311	SO:0001583	missense	7008	exon2				CCDS14014.1, CCDS46716.1	22q13.2	2013-01-10			ENSG00000167074	ENSG00000167074		"""basic leucine zipper proteins"""	11722	protein-coding gene	gene with protein product		188595				7835883, 15665112	Standard	NM_001145398		Approved	KIAA1655	uc003azy.4	Q10587	OTTHUMG00000150968	ENST00000266304.4:c.168G>T	22.37:g.41783365G>T	ENSP00000266304:p.Lys56Asn		40113311	NM_001145398	B0QYS8|B2RC22|Q15729|Q7Z3J7|Q8IU94|Q96TG4	Missense_Mutation	SNP	ENST00000266304.4	37	CCDS14014.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.11|13.11	2.140120|2.140120	0.37825|0.37825	.|.	.|.	ENSG00000167074|ENSG00000167074	ENST00000406644;ENST00000433913;ENST00000266304|ENST00000413942	.|.	.|.	.|.	5.16|5.16	1.83|1.83	0.25207|0.25207	.|.	0.242496|.	0.46442|.	D|.	0.000283|.	T|T	0.50274|0.50274	0.1606|0.1606	L|L	0.38953|0.38953	1.18|1.18	0.38784|0.38784	D|D	0.954826|0.954826	B;B;B|.	0.19331|.	0.011;0.011;0.035|.	B;B;B|.	0.14023|.	0.003;0.003;0.01|.	T|T	0.44605|0.44605	-0.9317|-0.9317	9|5	0.45353|.	T|.	0.12|.	-24.3524|-24.3524	8.4681|8.4681	0.32969|0.32969	0.3888:0.0:0.6112:0.0|0.3888:0.0:0.6112:0.0	.|.	61;56;26|.	B4DIH3;Q10587;Q10587-2|.	.;TEF_HUMAN;.|.	N|M	26;26;56|22	.|.	ENSP00000266304:K56N|.	K|R	+|+	3|2	2|0	TEF|TEF	40113311|40113311	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	1.819000|1.819000	0.39022|0.39022	0.716000|0.716000	0.32124|0.32124	0.655000|0.655000	0.94253|0.94253	AAG|AGG		0.557	TEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320692.1	NM_003216	
POLR3H	171568	broad.mit.edu	37	22	41928734	41928734	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr22:41928734A>G	ENST00000355209.4	-	3	567	c.224T>C	c.(223-225)gTg>gCg	p.V75A	POLR3H_ENST00000420561.1_5'UTR|POLR3H_ENST00000396504.2_Missense_Mutation_p.V75A|POLR3H_ENST00000407461.1_Missense_Mutation_p.V75A|POLR3H_ENST00000337566.5_Intron	NM_001018050.2	NP_001018060.1	Q9Y535	RPC8_HUMAN	polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)	75					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|nucleobase-containing compound metabolic process (GO:0006139)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.V75A(1)		breast(1)|lung(5)|skin(1)|urinary_tract(1)	8						ATGAAACACCACGCAGCGAAA	0.567											OREG0026590	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.V75A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T224C	22						.						130.0	112.0	118.0					22																	41928734		2203	4300	6503	40258680	SO:0001583	missense	171568	exon4			AB051452	CCDS14018.1, CCDS33651.1	22q13	2013-01-21			ENSG00000100413	ENSG00000100413		"""RNA polymerase subunits"""	30349	protein-coding gene	gene with protein product						11258795, 12391170	Standard	XR_244356		Approved	RPC8, KIAA1665	uc003baf.3	Q9Y535	OTTHUMG00000150971	ENST00000355209.4:c.224T>C	22.37:g.41928734A>G	ENSP00000347345:p.Val75Ala	904	40258680	NM_138338	B0QYH9|Q5M7Y8|Q96AE3|Q9BY95	Missense_Mutation	SNP	ENST00000355209.4	37	CCDS14018.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.934311	0.73442	.	.	ENSG00000100413	ENST00000396504;ENST00000355209;ENST00000407461	.	.	.	5.39	5.39	0.77823	RNA polymerase Rpb7, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.70736	0.3258	M	0.83118	2.625	0.80722	D	1	P	0.41159	0.74	P	0.44673	0.457	T	0.75476	-0.3304	9	0.56958	D	0.05	.	14.5954	0.68400	1.0:0.0:0.0:0.0	.	75	Q9Y535	RPC8_HUMAN	A	75	.	ENSP00000347345:V75A	V	-	2	0	POLR3H	40258680	1.000000	0.71417	1.000000	0.80357	0.257000	0.26127	9.109000	0.94291	2.048000	0.60808	0.454000	0.30748	GTG		0.567	POLR3H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320701.1	NM_138338	
XRCC6	2547	broad.mit.edu	37	22	42052927	42052927	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr22:42052927C>T	ENST00000359308.4	+	9	1967	c.1312C>T	c.(1312-1314)Ccc>Tcc	p.P438S	XRCC6_ENST00000428575.2_Missense_Mutation_p.P305S|XRCC6_ENST00000405878.1_Missense_Mutation_p.P438S|XRCC6_ENST00000360079.3_Missense_Mutation_p.P438S|XRCC6_ENST00000402580.3_Missense_Mutation_p.P397S|XRCC6_ENST00000405506.1_Missense_Mutation_p.P388S			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	438	Ku.				brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)	p.P438S(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						GGTCTTTTTACCCTTTGCTGA	0.413								Non-homologous end-joining																													p.P438S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1312T	22						.						76.0	72.0	73.0					22																	42052927		2203	4300	6503	40382873	SO:0001583	missense	2547	exon10			J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"""Ku autoantigen, 70kDa"""	152690	"""thyroid autoantigen 70kD (Ku antigen)"", ""thyroid autoantigen 70kDa (Ku antigen)"""	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.1312C>T	22.37:g.42052927C>T	ENSP00000352257:p.Pro438Ser		40382873	NM_001469	B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Missense_Mutation	SNP	ENST00000359308.4	37	CCDS14021.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614289	0.87359	.	.	ENSG00000196419	ENST00000360079;ENST00000402580;ENST00000428575;ENST00000359308;ENST00000405878;ENST00000402409;ENST00000405506	.	.	.	5.46	5.46	0.80206	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);DNA helicase, ATP-dependent, Ku type (2);	0.000000	0.85682	D	0.000000	D	0.86594	0.5970	M	0.93062	3.375	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.996;0.999	D	0.89305	0.3629	9	0.66056	D	0.02	-13.943	18.9158	0.92505	0.0:1.0:0.0:0.0	.	388;438;397;438	B1AHC9;B1AHC7;B1AHC8;P12956	.;.;.;XRCC6_HUMAN	S	438;397;305;438;438;438;388	.	ENSP00000352257:P438S	P	+	1	0	XRCC6	40382873	1.000000	0.71417	0.925000	0.36789	0.708000	0.40852	7.341000	0.79300	2.572000	0.86782	0.655000	0.94253	CCC		0.413	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321688.1	NM_001469	
XRCC6	2547	broad.mit.edu	37	22	42059786	42059786	+	Silent	SNP	G	G	A	rs369068201		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr22:42059786G>A	ENST00000359308.4	+	12	2452	c.1797G>A	c.(1795-1797)ctG>ctA	p.L599L	XRCC6_ENST00000428575.2_Silent_p.L466L|XRCC6_ENST00000405878.1_Silent_p.L599L|XRCC6_ENST00000360079.3_Silent_p.L599L|XRCC6_ENST00000402580.3_Silent_p.L558L|XRCC6_ENST00000405506.1_Silent_p.L549L			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	599	Interaction with DEAF1.|SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)	p.L599L(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						AGCAGGAGCTGCTGGAAGCCC	0.637								Non-homologous end-joining																													p.L599L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1797A	22						.	G		0,4406		0,0,2203	44.0	42.0	43.0		1797	1.8	1.0	22		43	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	XRCC6	NM_001469.3		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		599/610	42059786	1,13003	2203	4299	6502	40389732	SO:0001819	synonymous_variant	2547	exon13			J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"""Ku autoantigen, 70kDa"""	152690	"""thyroid autoantigen 70kD (Ku antigen)"", ""thyroid autoantigen 70kDa (Ku antigen)"""	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.1797G>A	22.37:g.42059786G>A			40389732	NM_001469	B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Silent	SNP	ENST00000359308.4	37	CCDS14021.1																																																																																				0.637	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321688.1	NM_001469	
TCF20	6942	broad.mit.edu	37	22	42608915	42608915	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr22:42608915A>G	ENST00000359486.3	-	1	2533	c.2397T>C	c.(2395-2397)gcT>gcC	p.A799A	TCF20_ENST00000404876.1_5'Flank|TCF20_ENST00000335626.4_Silent_p.A799A	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	799					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.A799A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGCCCCTGCTAGCTAATTCAT	0.483																																					p.A799A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2397C	22						.						61.0	56.0	58.0					22																	42608915		2203	4300	6503	40938859	SO:0001819	synonymous_variant	6942	exon1			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.2397T>C	22.37:g.42608915A>G			40938859	NM_005650	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Silent	SNP	ENST00000359486.3	37	CCDS14033.1																																																																																				0.483	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492	
MCAT	27349	broad.mit.edu	37	22	43529305	43529305	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr22:43529305T>C	ENST00000290429.6	-	4	962	c.917A>G	c.(916-918)tAc>tGc	p.Y306C	MCAT_ENST00000327555.5_3'UTR	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	306					fatty acid biosynthetic process (GO:0006633)|metabolic process (GO:0008152)	mitochondrion (GO:0005739)	[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)	p.Y306C(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				GGGATGCCTGTATCTATGCGC	0.562																																					p.Y306C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A917G	22						.						98.0	94.0	95.0					22																	43529305		2203	4300	6503	41859249	SO:0001583	missense	27349	exon4			AL359401	CCDS14045.1, CCDS33660.1	22q13.2	2010-04-27			ENSG00000100294	ENSG00000100294	2.3.1.39		29622	protein-coding gene	gene with protein product		614479				12882974	Standard	NM_173467		Approved	MT, MCT, fabD, FASN2C, NET62	uc003bdl.1	Q8IVS2	OTTHUMG00000150704	ENST00000290429.6:c.917A>G	22.37:g.43529305T>C	ENSP00000290429:p.Tyr306Cys		41859249	NM_173467	B0QY72|O95510|O95511	Missense_Mutation	SNP	ENST00000290429.6	37	CCDS33660.1	.	.	.	.	.	.	.	.	.	.	T	14.96	2.690153	0.48097	.	.	ENSG00000100294	ENST00000290429	T	0.44881	0.91	5.46	5.46	0.80206	Acyl transferase/acyl hydrolase/lysophospholipase (1);Acyl transferase (1);Acyl transferase domain (1);	0.000000	0.85682	D	0.000000	T	0.71668	0.3367	M	0.91510	3.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78365	-0.2232	10	0.56958	D	0.05	-13.3354	15.5454	0.76093	0.0:0.0:0.0:1.0	.	306	Q8IVS2	FABD_HUMAN	C	306	ENSP00000290429:Y306C	ENSP00000290429:Y306C	Y	-	2	0	MCAT	41859249	1.000000	0.71417	0.182000	0.23118	0.034000	0.12701	5.874000	0.69652	2.073000	0.62155	0.533000	0.62120	TAC		0.562	MCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319677.2	NM_173467	
SAMM50	25813	broad.mit.edu	37	22	44372012	44372012	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr22:44372012G>A	ENST00000350028.4	+	8	883	c.726G>A	c.(724-726)gcG>gcA	p.A242A	SAMM50_ENST00000396202.3_Silent_p.A32A	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	242					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)		p.A242A(1)		endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CAAGGACGGCGTCATTTGCTG	0.463																																					p.A242A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G726A	22						.						117.0	107.0	111.0					22																	44372012		2203	4300	6503	42703345	SO:0001819	synonymous_variant	25813	exon8			AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"""sorting and assembly machinery component 50 homolog (S. cerevisiae)"""			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.726G>A	22.37:g.44372012G>A			42703345	NM_015380	Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Silent	SNP	ENST00000350028.4	37	CCDS14055.1																																																																																				0.463	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318898.2	NM_015380	
PARVG	64098	broad.mit.edu	37	22	44602296	44602296	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr22:44602296C>G	ENST00000444313.3	+	14	1470	c.986C>G	c.(985-987)gCc>gGc	p.A329G	PARVG_ENST00000415224.1_Missense_Mutation_p.A329G|PARVG_ENST00000422871.1_Missense_Mutation_p.A329G	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	329					actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	actin binding (GO:0003779)	p.A329G(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				CCCCATGGAGCCCCGAATTGA	0.612																																					p.A329G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C986G	22						.						88.0	86.0	87.0					22																	44602296		2203	4300	6503	42933629	SO:0001583	missense	64098	exon14			AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964		"""Parvins"""	14654	protein-coding gene	gene with protein product		608122				11171322	Standard	NM_022141		Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.986C>G	22.37:g.44602296C>G	ENSP00000391583:p.Ala329Gly		42933629	NM_001137606	B4DDW5|E7EVM6|Q9BQX5|Q9NSG1	Missense_Mutation	SNP	ENST00000444313.3	37	CCDS14057.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.668232	0.29604	.	.	ENSG00000138964	ENST00000422871;ENST00000444313;ENST00000415224	T;T;T	0.77489	-1.1;-1.1;-1.1	3.51	3.51	0.40186	.	0.814440	0.10600	N	0.655775	T	0.61022	0.2314	N	0.08118	0	0.09310	N	0.999997	B	0.17038	0.02	B	0.17433	0.018	T	0.54702	-0.8254	10	0.56958	D	0.05	-13.4078	11.2175	0.48835	0.0:1.0:0.0:0.0	.	329	Q9HBI0	PARVG_HUMAN	G	329	ENSP00000391453:A329G;ENSP00000391583:A329G;ENSP00000416761:A329G	ENSP00000416761:A329G	A	+	2	0	PARVG	42933629	0.002000	0.14202	0.207000	0.23584	0.090000	0.18270	0.491000	0.22419	1.876000	0.54355	0.313000	0.20887	GCC		0.612	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318238.4	NM_022141	
SMC1B	27127	broad.mit.edu	37	22	45789554	45789554	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr22:45789554T>C	ENST00000357450.4	-	9	1504	c.1505A>G	c.(1504-1506)gAg>gGg	p.E502G	SMC1B_ENST00000404354.3_Missense_Mutation_p.E502G	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	502	Flexible hinge.				meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.E502G(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTCCAGAACCTCTGCTCTCTT	0.348																																					p.E502G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1505G	22						.						136.0	122.0	126.0					22																	45789554		1849	4102	5951	44168218	SO:0001583	missense	27127	exon9			AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.1505A>G	22.37:g.45789554T>C	ENSP00000350036:p.Glu502Gly		44168218	NM_148674	A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.789171	0.90367	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	D;D	0.86366	-2.11;-2.11	6.16	6.16	0.99307	SMCs flexible hinge (1);RecF/RecN/SMC (1);	0.000000	0.64402	D	0.000009	D	0.94631	0.8269	M	0.90082	3.085	0.80722	D	1	D;D;D	0.89917	0.971;0.988;1.0	P;P;D	0.77004	0.802;0.606;0.989	D	0.94707	0.7888	10	0.48119	T	0.1	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	502;502;502	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	G	502	ENSP00000350036:E502G;ENSP00000385902:E502G	ENSP00000350036:E502G	E	-	2	0	SMC1B	44168218	1.000000	0.71417	0.953000	0.39169	0.922000	0.55478	7.302000	0.78861	2.367000	0.80283	0.528000	0.53228	GAG		0.348	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674	
BRD1	23774	broad.mit.edu	37	22	50217350	50217350	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr22:50217350C>T	ENST00000216267.8	-	1	1102	c.616G>A	c.(616-618)Gag>Aag	p.E206K	BRD1_ENST00000342989.5_5'Flank|BRD1_ENST00000459821.1_5'Flank|BRD1_ENST00000404760.1_Missense_Mutation_p.E206K|BRD1_ENST00000457780.2_Missense_Mutation_p.E206K|BRD1_ENST00000404034.1_Missense_Mutation_p.E206K|BRD1_ENST00000542442.1_5'Flank	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	206					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)	p.E206K(1)		endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GACTGCTGCTCGCCCTGCTTC	0.602																																					p.E206K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G616A	22						.						65.0	53.0	57.0					22																	50217350		2203	4300	6503	48603354	SO:0001583	missense	23774	exon1			AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.616G>A	22.37:g.50217350C>T	ENSP00000216267:p.Glu206Lys		48603354	NM_014577	A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804041	0.31869	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780	T;T;T;D	0.87729	2.55;2.55;2.55;-2.29	4.72	4.72	0.59763	Zinc finger, FYVE/PHD-type (1);	0.259968	0.38548	N	0.001648	T	0.77691	0.4168	N	0.22421	0.69	0.51482	D	0.999929	P;P;P	0.50710	0.898;0.898;0.938	B;B;B	0.36719	0.178;0.116;0.231	T	0.78548	-0.2162	9	.	.	.	.	17.6696	0.88213	0.0:1.0:0.0:0.0	.	206;206;206	Q86X06;O95696;O95696-2	.;BRD1_HUMAN;.	K	206	ENSP00000216267:E206K;ENSP00000384076:E206K;ENSP00000385858:E206K;ENSP00000410042:E206K	.	E	-	1	0	BRD1	48603354	0.968000	0.33430	0.942000	0.38095	0.933000	0.57130	2.173000	0.42472	2.162000	0.67917	0.453000	0.30009	GAG		0.602	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577	
UPB1	51733	broad.mit.edu	37	22	24896213	24896213	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr22:24896213delC	ENST00000326010.5	+	2	587	c.243delC	c.(241-243)atcfs	p.I81fs	UPB1_ENST00000382760.2_Frame_Shift_Del_p.I81fs|UPB1_ENST00000413389.2_Intron	NM_016327.2	NP_057411.1	Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	81	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	beta-ureidopropionase activity (GO:0003837)|metal ion binding (GO:0046872)	p.L83fs*18(2)		endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					AGAACAGAATCCCCCTCCCCG	0.552																																					p.I81fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.243delC	22						.						69.0	73.0	72.0					22																	24896213		2203	4300	6503	23226213	SO:0001589	frameshift_variant	51733	exon2			AB013885	CCDS13827.1	22q11.2	2008-04-11			ENSG00000100024	ENSG00000100024			16297	protein-coding gene	gene with protein product		606673				10542323	Standard	XR_244378		Approved	BUP1	uc003aaf.3	Q9UBR1	OTTHUMG00000150749	ENST00000326010.5:c.243delC	22.37:g.24896213delC	ENSP00000324343:p.Ile81fs		23226213	NM_016327	A3KMF8|Q9UIR3	Frame_Shift_Del	DEL	ENST00000326010.5	37	CCDS13827.1																																																																																				0.552	UPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319869.1		
SELO	83642	broad.mit.edu	37	22	50649111	50649111	+	Silent	SNP	G	G	A	rs373314121		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr22:50649111G>A	ENST00000380903.2	+	5	1180	c.1122G>A	c.(1120-1122)gcG>gcA	p.A374A	SELO_ENST00000492092.1_3'UTR|RP3-402G11.28_ENST00000608016.1_RNA	NM_031454.1	NP_113642.1	Q9BVL4	SELO_HUMAN		374								p.A374A(1)					all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		GCCGCTACGCGTACAGCAAGC	0.687											OREG0026676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A374A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1122A	22						.	G		1,4271		0,1,2135	45.0	55.0	52.0		1122	-11.6	0.0	22		52	1,8463		0,1,4231	no	coding-synonymous	SELO	NM_031454.1		0,2,6366	AA,AG,GG		0.0118,0.0234,0.0157		374/670	50649111	2,12734	2136	4232	6368	48991238	SO:0001819	synonymous_variant	83642	exon5																														ENST00000380903.2:c.1122G>A	22.37:g.50649111G>A		971	48991238	NM_031454	Q2TAL2|Q5JZ81|Q8WUI0	Silent	SNP	ENST00000380903.2	37	CCDS43034.1																																																																																				0.687	SELO-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000075003.2		
TTN	7273	broad.mit.edu	37	2	179498216	179498217	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:179498216_179498217insT	ENST00000591111.1	-	182	38170_38171	c.37946_37947insA	c.(37945-37947)aagfs	p.K12649fs	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.K5350fs|TTN_ENST00000460472.2_Frame_Shift_Ins_p.K5225fs|TTN_ENST00000342175.6_Frame_Shift_Ins_p.K5417fs|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.K11722fs|TTN_ENST00000589042.1_Frame_Shift_Ins_p.K14290fs|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12649	Ig-like 84.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.A5226fs*4(1)|p.A5351fs*4(1)|p.A11723fs*4(1)|p.A5418fs*4(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAGGTCCGCCTTTTTGATTTT	0.426																																					p.K5350fs												.	.	4	Insertion - Frameshift(4)	large_intestine(4)	c.16050_16051insA	2						.																																			179206462	SO:0001589	frameshift_variant	7273	exon61			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.37947dupA	2.37:g.179498221_179498221dupT	ENSP00000465570:p.Lys12649fs		179206461	NM_133432	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Ins	INS	ENST00000591111.1	37																																																																																					0.426	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
NMUR1	10316	broad.mit.edu	37	2	232393632	232393633	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:232393632_232393633insC	ENST00000305141.4	-	2	232_233	c.99_100insG	c.(97-102)gggcacfs	p.H34fs		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	34					activation of phospholipase C activity (GO:0007202)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|chloride transport (GO:0006821)|G-protein coupled receptor signaling pathway (GO:0007186)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|smooth muscle contraction (GO:0006939)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuromedin U receptor activity (GO:0001607)|neuropeptide receptor activity (GO:0008188)	p.H34fs*3(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GGGTCAAAGTGCCCCCTGGCCG	0.589																																					p.H34fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.100_101insG	2						.																																			232101877	SO:0001589	frameshift_variant	10316	exon2			AF044600	CCDS2486.1	2q37.1	2012-08-08	2004-05-27	2004-05-28	ENSG00000171596	ENSG00000171596		"""GPCR / Class A : Neuromedin U receptors"""	4518	protein-coding gene	gene with protein product		604153	"""G protein-coupled receptor 66"""	GPR66		9782091	Standard	NM_006056		Approved	GPC-R, FM-3, NMU1R	uc002vry.4	Q9HB89	OTTHUMG00000133225	ENST00000305141.4:c.100dupG	2.37:g.232393637_232393637dupC	ENSP00000305877:p.His34fs		232101876	NM_006056	O43664|Q7LDP6|Q8NE20	Frame_Shift_Ins	INS	ENST00000305141.4	37	CCDS2486.1																																																																																				0.589	NMUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256961.1	NM_006056	
DNMT3A	1788	broad.mit.edu	37	2	25505430	25505431	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:25505430_25505431insC	ENST00000264709.3	-	4	664_665	c.327_328insG	c.(325-330)gggcagfs	p.Q110fs	DNMT3A_ENST00000321117.5_Frame_Shift_Ins_p.Q110fs|DNMT3A_ENST00000406659.3_Frame_Shift_Ins_p.Q110fs	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	110					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.Q110fs*14(2)|p.Q110fs*52(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGCCCTTCTGCCCCCCAGCAG	0.658			"""Mis, F, N, S"""		AML																																p.Q110fs			Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	.	.	3	Insertion - Frameshift(2)|Deletion - Frameshift(1)	large_intestine(2)|haematopoietic_and_lymphoid_tissue(1)	c.328_329insG	2						.																																			25358935	SO:0001589	frameshift_variant	1788	exon4				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.328dupG	2.37:g.25505436_25505436dupC	ENSP00000264709:p.Gln110fs		25358934	NM_175630	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Frame_Shift_Ins	INS	ENST00000264709.3	37	CCDS33157.1																																																																																				0.658	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552	
CYP1B1	1545	broad.mit.edu	37	2	38301663	38301664	+	Frame_Shift_Ins	INS	-	-	G	rs587778875|rs67543922		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:38301663_38301664insG	ENST00000260630.3	-	2	1269_1270	c.868_869insC	c.(868-870)cgcfs	p.R290fs	CYP1B1_ENST00000407341.1_Frame_Shift_Ins_p.R290fs|CYP1B1_ENST00000494864.1_Intron|CYP1B1-AS1_ENST00000431999.1_RNA|CYP1B1-AS1_ENST00000589303.1_RNA	NM_000104.3	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	290					angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|blood vessel morphogenesis (GO:0048514)|cell adhesion (GO:0007155)|cellular aromatic compound metabolic process (GO:0006725)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to organic cyclic compound (GO:0071407)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell-cell adhesion (GO:0071603)|epoxygenase P450 pathway (GO:0019373)|estrogen metabolic process (GO:0008210)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|membrane lipid catabolic process (GO:0046466)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nitric oxide biosynthetic process (GO:0006809)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to toxic substance (GO:0009636)|retinal blood vessel morphogenesis (GO:0061304)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|toxin metabolic process (GO:0009404)|trabecular meshwork development (GO:0002930)|visual perception (GO:0007601)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.R290fs*37(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Biotin(DB00121)|Caffeine(DB00201)|Clozapine(DB00363)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Flutamide(DB00499)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Melatonin(DB01065)|Mitoxantrone(DB01204)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Primaquine(DB01087)|Procarbazine(DB01168)|Progesterone(DB00396)|Propofol(DB00818)|Tamoxifen(DB00675)|Testosterone(DB00624)|Theophylline(DB00277)	CATCATGTcgcggggggcggcc	0.619																																					p.R290fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.869_870insC	2	GRCh37	CI972587	CYP1B1	I		.																																			38155168	SO:0001589	frameshift_variant	1545	exon2			U56438	CCDS1793.1	2p22.2	2008-02-05	2003-01-14		ENSG00000138061	ENSG00000138061		"""Cytochrome P450s"""	2597	protein-coding gene	gene with protein product		601771	"""cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)"""	GLC3A		8175734, 15128046	Standard	NM_000104		Approved	CP1B	uc002rqo.2	Q16678	OTTHUMG00000100970	ENST00000260630.3:c.869dupC	2.37:g.38301669_38301669dupG	ENSP00000260630:p.Arg290fs		38155167	NM_000104	Q5TZW8|Q93089|Q9H316	Frame_Shift_Ins	INS	ENST00000260630.3	37	CCDS1793.1																																																																																				0.619	CYP1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218580.3	NM_000104	
RRM2	6241	broad.mit.edu	37	2	10264910	10264910	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:10264910A>G	ENST00000304567.5	+	5	571	c.502A>G	c.(502-504)Atg>Gtg	p.M168V	RRM2_ENST00000360566.2_Missense_Mutation_p.M228V	NM_001034.3	NP_001025.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	168					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)	p.M168V(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)	Cladribine(DB00242)|Gallium nitrate(DB05260)	CCAAATTGCCATGGAAAACAT	0.378																																					p.M228V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A682G	2						.						77.0	77.0	77.0					2																	10264910		2203	4300	6503	10182361	SO:0001583	missense	6241	exon5				CCDS1669.1, CCDS54334.1	2p25-p24	2012-10-02	2009-07-10		ENSG00000171848	ENSG00000171848	1.17.4.1		10452	protein-coding gene	gene with protein product		180390	"""ribonucleotide reductase M2 polypeptide"""				Standard	NM_001034		Approved		uc021vdr.1	P31350	OTTHUMG00000090449	ENST00000304567.5:c.502A>G	2.37:g.10264910A>G	ENSP00000302955:p.Met168Val		10182361	NM_001165931	B2R9B5|J3KP43|Q5WRU7	Missense_Mutation	SNP	ENST00000304567.5	37	CCDS1669.1	.	.	.	.	.	.	.	.	.	.	A	11.31	1.602328	0.28534	.	.	ENSG00000171848	ENST00000360566;ENST00000304567;ENST00000474701	D;D;D	0.97328	-4.34;-4.34;-4.34	5.08	5.08	0.68730	Ferritin/ribonucleotide reductase-like (1);Ribonucleotide reductase-related (1);	0.033763	0.85682	D	0.000000	D	0.95421	0.8513	L	0.56280	1.765	0.80722	D	1	B	0.27380	0.177	B	0.28991	0.097	D	0.94188	0.7438	10	0.48119	T	0.1	-5.078	14.8608	0.70379	1.0:0.0:0.0:0.0	.	168	P31350	RIR2_HUMAN	V	228;168;118	ENSP00000353770:M228V;ENSP00000302955:M168V;ENSP00000419177:M118V	ENSP00000302955:M168V	M	+	1	0	RRM2	10182361	1.000000	0.71417	1.000000	0.80357	0.163000	0.22366	9.233000	0.95337	1.911000	0.55334	0.459000	0.35465	ATG		0.378	RRM2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364902.2		
CHST10	9486	broad.mit.edu	37	2	101010036	101010036	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:101010036T>A	ENST00000264249.3	-	7	1127	c.742A>T	c.(742-744)Aac>Tac	p.N248Y	CHST10_ENST00000542617.1_Missense_Mutation_p.N296Y|CHST10_ENST00000409701.1_Missense_Mutation_p.N248Y	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	248					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)	p.N248Y(1)		breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						CATCTGTGGTTCGGATCGCCG	0.517																																					p.N248Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A742T	2						.						263.0	240.0	248.0					2																	101010036		2203	4300	6503	100376468	SO:0001583	missense	9486	exon7			BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"""Sulfotransferases, membrane-bound"""	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.742A>T	2.37:g.101010036T>A	ENSP00000264249:p.Asn248Tyr		100376468	NM_004854	Q53T18	Missense_Mutation	SNP	ENST00000264249.3	37	CCDS2047.1	.	.	.	.	.	.	.	.	.	.	T	19.20	3.781129	0.70222	.	.	ENSG00000115526	ENST00000264249;ENST00000542617;ENST00000409701	T;T;T	0.73363	-0.74;-0.74;-0.74	5.91	5.91	0.95273	.	0.171295	0.64402	D	0.000004	T	0.81847	0.4909	L	0.49126	1.545	0.49051	D	0.999741	D	0.67145	0.996	D	0.63381	0.914	T	0.82602	-0.0376	10	0.54805	T	0.06	-48.2505	16.3436	0.83110	0.0:0.0:0.0:1.0	.	248	O43529	CHSTA_HUMAN	Y	248;296;248	ENSP00000264249:N248Y;ENSP00000438869:N296Y;ENSP00000387309:N248Y	ENSP00000264249:N248Y	N	-	1	0	CHST10	100376468	1.000000	0.71417	0.917000	0.36280	0.869000	0.49853	3.565000	0.53798	2.269000	0.75478	0.533000	0.62120	AAC		0.517	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253162.1	NM_004854	
ODC1	4953	broad.mit.edu	37	2	10584677	10584677	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:10584677C>T	ENST00000234111.4	-	4	709	c.199G>A	c.(199-201)Gca>Aca	p.A67T	ODC1_ENST00000446285.1_Intron|ODC1_ENST00000405333.1_Missense_Mutation_p.A67T|SNORA80B_ENST00000383906.1_RNA	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	67					cellular nitrogen compound metabolic process (GO:0034641)|kidney development (GO:0001822)|polyamine metabolic process (GO:0006595)|positive regulation of cell proliferation (GO:0008284)|putrescine biosynthetic process from ornithine (GO:0033387)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ornithine decarboxylase activity (GO:0004586)|protein homodimerization activity (GO:0042803)	p.A67T(1)		NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Spermine(DB00127)	CATTTGACTGCATAAAAGGGG	0.483																																					p.A67T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G199A	2						.						100.0	95.0	96.0					2																	10584677		2203	4300	6503	10502128	SO:0001583	missense	4953	exon4				CCDS1672.1	2p25	2012-10-02			ENSG00000115758	ENSG00000115758	4.1.1.17		8109	protein-coding gene	gene with protein product		165640					Standard	NM_002539		Approved	ODC	uc002rao.1	P11926	OTTHUMG00000090450	ENST00000234111.4:c.199G>A	2.37:g.10584677C>T	ENSP00000234111:p.Ala67Thr		10502128	NM_002539	Q53TU3|Q6LDS9	Missense_Mutation	SNP	ENST00000234111.4	37	CCDS1672.1	.	.	.	.	.	.	.	.	.	.	C	35	5.419147	0.96092	.	.	ENSG00000115758	ENST00000234111;ENST00000405333;ENST00000443218	T;T	0.77750	-1.12;-1.12	5.37	5.37	0.77165	Orn/DAP/Arg decarboxylase 2, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88058	0.6335	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.86094	0.1552	10	0.30854	T	0.27	.	19.1175	0.93348	0.0:1.0:0.0:0.0	.	67	P11926	DCOR_HUMAN	T	67	ENSP00000234111:A67T;ENSP00000385333:A67T	ENSP00000234111:A67T	A	-	1	0	ODC1	10502128	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.950000	0.70265	2.508000	0.84585	0.655000	0.94253	GCA		0.483	ODC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206896.2		
PDIA6	10130	broad.mit.edu	37	2	10930912	10930912	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:10930912G>A	ENST00000272227.3	-	7	779	c.632C>T	c.(631-633)aCg>aTg	p.T211M	PDIA6_ENST00000404371.2_Missense_Mutation_p.T263M|PDIA6_ENST00000540494.1_Missense_Mutation_p.T208M|PDIA6_ENST00000404824.2_Missense_Mutation_p.T259M|PDIA6_ENST00000381611.4_Missense_Mutation_p.T216M	NM_001282707.1|NM_005742.2	NP_001269636.1|NP_005733.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	211	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein disulfide isomerase activity (GO:0003756)	p.T211M(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		TTTTCCTTTCGTCTGCTCTTT	0.448																																					p.T211M	GBM(73;509 1219 34219 41343 41551)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C632T	2						.						152.0	146.0	148.0					2																	10930912		2203	4300	6503	10848363	SO:0001583	missense	10130	exon7			BC001312	CCDS1675.1, CCDS62852.1, CCDS62853.1, CCDS62854.1, CCDS62855.1	2p25.1	2009-11-20	2005-06-29	2005-03-03	ENSG00000143870	ENSG00000143870	5.3.4.1	"""Protein disulfide isomerases"""	30168	protein-coding gene	gene with protein product	"""protein disulfide isomerase-related protein"""	611099	"""thioredoxin domain containing 7 (protein disulfide isomerase)"", ""protein disulfide isomerase-associated 6"""	TXNDC7		7590364, 12204115	Standard	XM_005246145		Approved	P5, ERp5	uc002rau.3	Q15084	OTTHUMG00000090479	ENST00000272227.3:c.632C>T	2.37:g.10930912G>A	ENSP00000272227:p.Thr211Met		10848363	NM_005742	B3KY95|B5MCQ5|B7Z254|B7Z4M8|F8WA83|Q53RC7|Q6ZSH5|Q99778	Missense_Mutation	SNP	ENST00000272227.3	37	CCDS1675.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.089459	0.76756	.	.	ENSG00000143870	ENST00000272227;ENST00000404371;ENST00000404824;ENST00000540494;ENST00000381611	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	5.93	5.05	0.67936	Thioredoxin domain (1);Thioredoxin-like fold (3);Disulphide isomerase (1);	0.000000	0.85682	D	0.000000	T	0.53222	0.1783	L	0.31578	0.945	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.996;1.0	T	0.58092	-0.7697	10	0.87932	D	0	.	14.9935	0.71412	0.068:0.0:0.932:0.0	.	208;259;263;211	B7Z254;B5MCQ5;Q15084-2;Q15084	.;.;.;PDIA6_HUMAN	M	211;263;259;208;216	ENSP00000272227:T211M;ENSP00000385385:T263M;ENSP00000384459:T259M;ENSP00000438778:T208M;ENSP00000371024:T216M	ENSP00000272227:T211M	T	-	2	0	PDIA6	10848363	1.000000	0.71417	0.127000	0.21898	0.913000	0.54294	9.842000	0.99487	1.518000	0.48934	0.655000	0.94253	ACG		0.448	PDIA6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206933.1	NM_005742	
SLC9A2	6549	broad.mit.edu	37	2	103318898	103318898	+	Silent	SNP	G	G	A	rs374054836		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:103318898G>A	ENST00000233969.2	+	9	1924	c.1782G>A	c.(1780-1782)acG>acA	p.T594T	SLC9A2_ENST00000469286.1_3'UTR	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	594					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.T594T(1)		breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GGAAGGTCACGTCCAGTGAAA	0.303																																					p.T594T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1782A	2						.	G		0,4406		0,0,2203	76.0	83.0	80.0		1782	-11.5	0.7	2		80	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC9A2	NM_003048.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		594/813	103318898	1,13005	2203	4300	6503	102685330	SO:0001819	synonymous_variant	6549	exon9				CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.1782G>A	2.37:g.103318898G>A			102685330	NM_003048	B2RMS2	Silent	SNP	ENST00000233969.2	37	CCDS2062.1																																																																																				0.303	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2		
CHCHD5	84269	broad.mit.edu	37	2	113343680	113343680	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:113343680C>A	ENST00000324913.5	+	2	339	c.132C>A	c.(130-132)tgC>tgA	p.C44*	AC012442.5_ENST00000414784.1_RNA|CHCHD5_ENST00000409719.1_Nonsense_Mutation_p.C44*|CHCHD5_ENST00000489052.1_3'UTR	NM_032309.2	NP_115685.1	Q9BSY4	CHCH5_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 5	44						mitochondrion (GO:0005739)		p.C44*(1)		NS(1)|endometrium(1)|large_intestine(4)|urinary_tract(1)	7						TTGCCCAGTGCACATCCTCCC	0.627																																					p.C44X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C132A	2						.						66.0	69.0	68.0					2																	113343680		2203	4300	6503	113060151	SO:0001587	stop_gained	84269	exon2			BC004498	CCDS2098.1	2q14.1	2012-10-15	2004-01-19	2004-01-21	ENSG00000125611	ENSG00000125611		"""Coiled-coil-helix-coiled-coil-helix domain containing"""	17840	protein-coding gene	gene with protein product	"""mitochondrial intermembrane space cysteine motif protein of 14 kDa homolog (S. cerevisiae)"""		"""chromosome 2 open reading frame 9"""	C2orf9		22842048	Standard	NM_032309		Approved	MGC11104, MIC14	uc002thz.1	Q9BSY4	OTTHUMG00000131312	ENST00000324913.5:c.132C>A	2.37:g.113343680C>A	ENSP00000325655:p.Cys44*		113060151	NM_032309	Q585T4|Q8N8C4	Nonsense_Mutation	SNP	ENST00000324913.5	37	CCDS2098.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358862	0.82353	.	.	ENSG00000125611	ENST00000324913;ENST00000409719	.	.	.	5.43	4.55	0.56014	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-35.5831	12.174	0.54176	0.0:0.9162:0.0:0.0838	.	.	.	.	X	44	.	ENSP00000325655:C44X	C	+	3	2	CHCHD5	113060151	1.000000	0.71417	0.997000	0.53966	0.812000	0.45895	2.085000	0.41634	1.429000	0.47314	0.650000	0.86243	TGC		0.627	CHCHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254081.2	NM_032309	
LPIN1	23175	broad.mit.edu	37	2	11925031	11925031	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:11925031G>A	ENST00000256720.2	+	9	1363	c.1270G>A	c.(1270-1272)Gca>Aca	p.A424T	LPIN1_ENST00000425416.2_Missense_Mutation_p.A430T|LPIN1_ENST00000449576.2_Missense_Mutation_p.A509T|LPIN1_ENST00000396099.1_Missense_Mutation_p.A466T|LPIN1_ENST00000404113.2_5'Flank|LPIN1_ENST00000396097.1_Missense_Mutation_p.A154T	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	424					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)	p.A424T(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TTCCGGACTCGCAAAACATGC	0.632											OREG0014445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A424T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1270A	2						.						47.0	49.0	48.0					2																	11925031		2203	4300	6503	11842482	SO:0001583	missense	23175	exon9			D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.1270G>A	2.37:g.11925031G>A	ENSP00000256720:p.Ala424Thr	675	11842482	NM_145693	A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.642532	0.29246	.	.	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097	T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45	5.68	-11.4	0.00090	.	1.622520	0.02772	N	0.119803	T	0.39600	0.1084	N	0.16368	0.405	0.09310	N	0.999999	B;B	0.13145	0.007;0.002	B;B	0.09377	0.004;0.001	T	0.15407	-1.0438	10	0.12766	T	0.61	0.0071	5.7873	0.18340	0.3189:0.4295:0.1819:0.0697	.	509;424	F5GY24;Q14693	.;LPIN1_HUMAN	T	509;466;430;424;154	ENSP00000397908:A509T;ENSP00000379406:A466T;ENSP00000401522:A430T;ENSP00000256720:A424T;ENSP00000379404:A154T	ENSP00000256720:A424T	A	+	1	0	LPIN1	11842482	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.448000	0.02394	-3.149000	0.00231	-0.253000	0.11424	GCA		0.632	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693	
DDX18	8886	broad.mit.edu	37	2	118582546	118582546	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:118582546T>A	ENST00000263239.2	+	9	1365	c.1237T>A	c.(1237-1239)Ttc>Atc	p.F413I		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	413	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)	p.F413I(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGAAAAGAGATTCCTTCTGCT	0.363																																					p.F413I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1237A	2						.						118.0	112.0	114.0					2																	118582546		2203	4300	6503	118299016	SO:0001583	missense	8886	exon9			X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"""DEAD-boxes"""	2741	protein-coding gene	gene with protein product		606355	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"""			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.1237T>A	2.37:g.118582546T>A	ENSP00000263239:p.Phe413Ile		118299016	NM_006773	Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Missense_Mutation	SNP	ENST00000263239.2	37	CCDS2120.1	.	.	.	.	.	.	.	.	.	.	T	29.9	5.046572	0.93740	.	.	ENSG00000088205	ENST00000263239;ENST00000539346	T	0.04406	3.63	5.17	5.17	0.71159	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.05868	0.0153	L	0.39020	1.185	0.80722	D	1	B	0.25169	0.119	B	0.21360	0.034	T	0.34104	-0.9842	10	0.45353	T	0.12	.	15.3109	0.74031	0.0:0.0:0.0:1.0	.	413	Q9NVP1	DDX18_HUMAN	I	413;152	ENSP00000263239:F413I	ENSP00000263239:F413I	F	+	1	0	DDX18	118299016	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.407000	0.80029	2.089000	0.63090	0.528000	0.53228	TTC		0.363	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3	NM_006773	
GLI2	2736	broad.mit.edu	37	2	121684941	121684941	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:121684941G>A	ENST00000452319.1	+	3	213	c.153G>A	c.(151-153)ccG>ccA	p.P51P	GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000361492.4_Silent_p.P51P|GLI2_ENST00000435313.2_3'UTR					GLI family zinc finger 2									p.P51P(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CTGCAGTGCCGCAGCATCTCT	0.502																																					p.P51P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G153A	2						.						235.0	200.0	212.0					2																	121684941		2203	4300	6503	121401411	SO:0001819	synonymous_variant	2736	exon2				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.153G>A	2.37:g.121684941G>A			121401411	NM_005270		Silent	SNP	ENST00000452319.1	37	CCDS33283.1																																																																																				0.502	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270	
MYO7B	4648	broad.mit.edu	37	2	128335809	128335809	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:128335809C>T	ENST00000409816.2	+	8	983	c.951C>T	c.(949-951)gaC>gaT	p.D317D	MYO7B_ENST00000428314.1_Silent_p.D317D|MYO7B_ENST00000389524.4_Silent_p.D317D			Q6PIF6	MYO7B_HUMAN	myosin VIIB	317	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.D317D(2)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AGAGCTGGGACGTCATCAAGC	0.607																																					p.D317D												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C951T	2						.						53.0	58.0	57.0					2																	128335809		2106	4214	6320	128052279	SO:0001819	synonymous_variant	4648	exon9				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.951C>T	2.37:g.128335809C>T			128052279	NM_001080527	Q14786|Q8TEE1	Silent	SNP	ENST00000409816.2	37	CCDS46405.1																																																																																				0.607	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001	
SAP130	79595	broad.mit.edu	37	2	128744395	128744395	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:128744395C>A	ENST00000259235.3	-	14	2129	c.2000G>T	c.(1999-2001)cGg>cTg	p.R667L	SAP130_ENST00000357702.5_Missense_Mutation_p.R667L|SAP130_ENST00000259234.6_Missense_Mutation_p.R640L	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	667					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)	p.R667L(1)		NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TATGCTTGGCCGTGGCGATGA	0.542																																					p.R667L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2000T	2						.						145.0	130.0	135.0					2																	128744395		2203	4300	6503	128460865	SO:0001583	missense	79595	exon14			BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.2000G>T	2.37:g.128744395C>A	ENSP00000259235:p.Arg667Leu		128460865	NM_001145928	B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	ENST00000259235.3	37	CCDS2153.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872996	0.72180	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	6.17	5.3	0.74995	.	0.054981	0.85682	D	0.000000	T	0.65801	0.2726	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;0.999;0.998	D;D;D;D;D	0.87578	0.998;0.998;0.994;0.992;0.994	T	0.63093	-0.6714	9	0.27785	T	0.31	-11.7763	15.4435	0.75208	0.0:0.9342:0.0:0.0658	.	667;640;667;197;304	B7ZLM3;Q96DP1;Q9H0E3;Q9H0E3-2;B3KRT9	.;.;SP130_HUMAN;.;.	L	667;667;640	.	ENSP00000259234:R640L	R	-	2	0	SAP130	128460865	1.000000	0.71417	0.959000	0.39883	0.670000	0.39368	7.354000	0.79424	1.633000	0.50488	0.655000	0.94253	CGG		0.542	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545	
NCKAP5	344148	broad.mit.edu	37	2	133483326	133483326	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:133483326C>T	ENST00000409261.1	-	19	5960	c.5587G>A	c.(5587-5589)Gca>Aca	p.A1863T	NCKAP5_ENST00000317721.6_Missense_Mutation_p.A1863T|NCKAP5_ENST00000405974.3_Missense_Mutation_p.A544T|NCKAP5_ENST00000409213.1_Missense_Mutation_p.A544T	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1863								p.A383T(1)|p.A1863T(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ATTCTGGGTGCCTTGTCCTAA	0.453																																					p.A544T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1630A	2						.						90.0	86.0	87.0					2																	133483326		1958	4163	6121	133199796	SO:0001583	missense	344148	exon17			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.5587G>A	2.37:g.133483326C>T	ENSP00000387128:p.Ala1863Thr		133199796	NM_207481	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.868132	0.32977	.	.	ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661	T;T;T;T	0.44083	2.93;0.93;2.93;0.93	4.8	2.96	0.34315	.	.	.	.	.	T	0.21509	0.0518	N	0.08118	0	0.19300	N	0.99998	B;B	0.13145	0.003;0.007	B;B	0.12837	0.004;0.008	T	0.17048	-1.0382	9	0.40728	T	0.16	.	6.033	0.19690	0.1518:0.6857:0.0:0.1625	.	544;1863	O14513-2;O14513	.;NCKP5_HUMAN	T	1863;544;1863;544;544	ENSP00000387128:A1863T;ENSP00000386952:A544T;ENSP00000380603:A1863T;ENSP00000385692:A544T	ENSP00000380603:A1863T	A	-	1	0	NCKAP5	133199796	0.891000	0.30450	0.586000	0.28679	0.922000	0.55478	0.922000	0.28734	0.601000	0.29879	0.563000	0.77884	GCA		0.453	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481	
MAP3K19	80122	broad.mit.edu	37	2	135722480	135722480	+	Missense_Mutation	SNP	C	C	G	rs150711518	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:135722480C>G	ENST00000375845.3	-	10	3957	c.3927G>C	c.(3925-3927)caG>caC	p.Q1309H	MAP3K19_ENST00000392917.3_Missense_Mutation_p.Q441H|MAP3K19_ENST00000358371.4_Missense_Mutation_p.Q1196H|MAP3K19_ENST00000392918.3_Missense_Mutation_p.Q443H|MAP3K19_ENST00000375844.3_Missense_Mutation_p.Q491H	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	1309	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.Q1309H(1)									GTCGCTCATGCTGGTCCCTAA	0.438																																					p.Q1309H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3927C	2						.	C	HIS/GLN,HIS/GLN	0,4406		0,0,2203	58.0	51.0	54.0		1473,3927	4.0	1.0	2	dbSNP_134	54	4,8596	3.0+/-9.4	0,4,4296	yes	missense,missense	YSK4	NM_001018046.1,NM_025052.3	24,24	0,4,6499	GG,GC,CC		0.0465,0.0,0.0308	probably-damaging,probably-damaging	491/511,1309/1329	135722480	4,13002	2203	4300	6503	135438950	SO:0001583	missense	80122	exon10			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.3927G>C	2.37:g.135722480C>G	ENSP00000365005:p.Gln1309His		135438950	NM_025052	B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	C	15.31	2.795344	0.50208	0.0	4.65E-4	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000375844;ENST00000392918;ENST00000392917	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	5.82	4.03	0.46877	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	0.44483	D	0.000448	T	0.26991	0.0661	N	0.11673	0.155	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;0.998;0.998;1.0	D;D;D;P;D	0.87578	0.942;0.993;0.929;0.904;0.998	T	0.07616	-1.0763	10	0.36615	T	0.2	.	7.7965	0.29150	0.0:0.738:0.0:0.262	.	441;1196;443;491;1309	B7ZMH9;Q56UN5-3;Q56UN5-4;Q56UN5-5;Q56UN5	.;.;.;.;YSK4_HUMAN	H	1309;1196;491;443;441	ENSP00000365005:Q1309H;ENSP00000351140:Q1196H;ENSP00000365004:Q491H;ENSP00000376650:Q443H;ENSP00000376649:Q441H	ENSP00000351140:Q1196H	Q	-	3	2	YSK4	135438950	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.888000	0.28268	0.812000	0.34326	0.561000	0.74099	CAG		0.438	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052	
NXPH2	11249	broad.mit.edu	37	2	139429161	139429161	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:139429161C>T	ENST00000272641.3	-	2	232	c.126G>A	c.(124-126)acG>acA	p.T42T		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	42	II.				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.T42T(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		TGCCGACCAACGTCCCTGGAG	0.532																																					p.T42T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G126A	2						.						90.0	90.0	90.0					2																	139429161		1973	4170	6143	139145631	SO:0001819	synonymous_variant	11249	exon2			AF043467	CCDS46421.1	2q22.1	2008-05-15			ENSG00000144227	ENSG00000144227			8076	protein-coding gene	gene with protein product		604635				9570794	Standard	NM_007226		Approved	NPH2	uc002tvi.3	O95156	OTTHUMG00000153636	ENST00000272641.3:c.126G>A	2.37:g.139429161C>T			139145631	NM_007226	B7WP24|Q494R1|Q75QC3	Silent	SNP	ENST00000272641.3	37	CCDS46421.1																																																																																				0.532	NXPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331901.1		
ARHGAP15	55843	broad.mit.edu	37	2	143913207	143913207	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:143913207G>A	ENST00000295095.6	+	2	315	c.148G>A	c.(148-150)Ggg>Agg	p.G50R	ARHGAP15_ENST00000409869.1_Missense_Mutation_p.G50R	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	50					positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)	p.G50R(1)		endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		CACCGATGTCGGGAAGGTCAC	0.423																																					p.G50R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G148A	2						.						103.0	94.0	97.0					2																	143913207		2203	4300	6503	143629677	SO:0001583	missense	55843	exon2			AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.148G>A	2.37:g.143913207G>A	ENSP00000295095:p.Gly50Arg		143629677	NM_018460	Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Missense_Mutation	SNP	ENST00000295095.6	37	CCDS2184.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910810	0.72983	.	.	ENSG00000075884	ENST00000409869;ENST00000295095	T	0.08008	3.14	6.07	6.07	0.98685	.	0.175021	0.50627	D	0.000102	T	0.05273	0.0140	N	0.24115	0.695	0.31002	N	0.720205	D;B	0.55385	0.971;0.013	B;B	0.39531	0.302;0.003	T	0.21314	-1.0249	10	0.15066	T	0.55	.	10.2131	0.43152	0.0699:0.1371:0.793:0.0	.	50;50	B4E0R3;Q53QZ3	.;RHG15_HUMAN	R	50	ENSP00000295095:G50R	ENSP00000295095:G50R	G	+	1	0	ARHGAP15	143629677	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	3.307000	0.51888	2.884000	0.98904	0.655000	0.94253	GGG		0.423	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460	
KIF5C	3800	broad.mit.edu	37	2	149835467	149835467	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:149835467C>T	ENST00000435030.1	+	13	1693	c.1325C>T	c.(1324-1326)gCt>gTt	p.A442V	KIF5C_ENST00000397413.1_Missense_Mutation_p.A210V|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.A347V			O60282	KIF5C_HUMAN	kinesin family member 5C	442					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.A345V(1)|p.A442V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		AGCCAGCTGGCTGAAAAGCTG	0.358																																					p.A418V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1253T	2						.						79.0	79.0	79.0					2																	149835467		1873	4110	5983	149543713	SO:0001583	missense	3800	exon12			AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.1325C>T	2.37:g.149835467C>T	ENSP00000393379:p.Ala442Val		149543713	NM_004522	O95079|Q2YDC5	Missense_Mutation	SNP	ENST00000435030.1	37		.	.	.	.	.	.	.	.	.	.	C	8.089	0.774052	0.16051	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000397413	T;T;T	0.72505	-0.66;-0.66;-0.66	5.65	5.65	0.86999	.	0.054246	0.64402	D	0.000001	T	0.54615	0.1869	.	.	.	0.52501	D	0.999952	B	0.02656	0.0	B	0.04013	0.001	T	0.48246	-0.9052	9	0.14656	T	0.56	.	13.1248	0.59349	0.0:0.9278:0.0:0.0721	.	442	O60282	KIF5C_HUMAN	V	442;347;345;210	ENSP00000393379:A442V;ENSP00000410115:A347V;ENSP00000380560:A210V	ENSP00000334176:A345V	A	+	2	0	KIF5C	149543713	0.993000	0.37304	1.000000	0.80357	0.998000	0.95712	2.592000	0.46171	2.941000	0.99782	0.655000	0.94253	GCT		0.358	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522	
RIF1	55183	broad.mit.edu	37	2	152321615	152321615	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:152321615A>G	ENST00000243326.5	+	29	6064	c.5581A>G	c.(5581-5583)Act>Gct	p.T1861A	RIF1_ENST00000444746.2_Missense_Mutation_p.T1861A|RIF1_ENST00000430328.2_Missense_Mutation_p.T1861A|RIF1_ENST00000428287.2_Missense_Mutation_p.T1861A|RIF1_ENST00000453091.2_Missense_Mutation_p.T1861A			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.T1861A(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AAATTTTAAAACTGTTGGCCC	0.373																																					p.T1861A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5581G	2						.						58.0	63.0	61.0					2																	152321615		2203	4300	6503	152029861	SO:0001583	missense	55183	exon30			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.5581A>G	2.37:g.152321615A>G	ENSP00000243326:p.Thr1861Ala		152029861	NM_001177664	A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	A	10.22	1.290935	0.23564	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.08370	3.1;3.1;3.1;3.1;3.1	5.68	-6.57	0.01842	.	0.847490	0.10936	N	0.617798	T	0.03390	0.0098	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.42882	-0.9425	10	0.17369	T	0.5	-0.6478	3.7667	0.08626	0.2279:0.1069:0.4549:0.2103	.	1861;1861	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	A	1861	ENSP00000390181:T1861A;ENSP00000414615:T1861A;ENSP00000415691:T1861A;ENSP00000243326:T1861A;ENSP00000416123:T1861A	ENSP00000243326:T1861A	T	+	1	0	RIF1	152029861	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-0.316000	0.08071	-1.250000	0.02497	-0.263000	0.10527	ACT		0.373	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3		
NEB	4703	broad.mit.edu	37	2	152346574	152346574	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:152346574T>G	ENST00000172853.10	-	148	19894	c.19747A>C	c.(19747-19749)Acc>Ccc	p.T6583P	NEB_ENST00000509223.2_Missense_Mutation_p.T352P|RIF1_ENST00000457745.1_Intron|NEB_ENST00000397336.2_Missense_Mutation_p.T414P|NEB_ENST00000498015.2_5'Flank|NEB_ENST00000409198.1_Missense_Mutation_p.T6583P|NEB_ENST00000604864.1_Missense_Mutation_p.T8439P|NEB_ENST00000397345.3_Missense_Mutation_p.T8439P|NEB_ENST00000427231.2_Missense_Mutation_p.T8439P|NEB_ENST00000603639.1_Missense_Mutation_p.T8439P			P20929	NEBU_HUMAN	nebulin	6583	Interaction with SVIL.				muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.T8439P(1)|p.T6583P(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGCTCTGTGGTTTTTGCATGT	0.408																																					p.T8439P												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A25315C	2						.						300.0	278.0	284.0					2																	152346574		1861	4112	5973	152054820	SO:0001583	missense	4703	exon181			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.19747A>C	2.37:g.152346574T>G	ENSP00000172853:p.Thr6583Pro		152054820	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.5|22.5	4.298342|4.298342	0.81025|0.81025	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000397337;ENST00000434685|ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853;ENST00000397336;ENST00000509223	T;T|T;T;T;T;T;T;T	0.10288|0.07688	4.1;2.89|3.3;3.34;3.34;3.17;3.3;3.87;4.05	5.21|5.21	5.21|5.21	0.72293|0.72293	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.25680|0.25680	0.0625|0.0625	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	.|D;D;P;B;D;B	.|0.71674	.|0.994;0.998;0.904;0.09;0.998;0.075	.|P;D;P;B;D;B	.|0.76071	.|0.832;0.914;0.616;0.029;0.987;0.144	T|T	0.00583|0.00583	-1.1659|-1.1659	7|10	0.54805|0.44086	T|T	0.06|0.13	.|.	14.7694|14.7694	0.69665|0.69665	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|352;414;352;6583;2921;8439	.|B7Z6B9;B7Z6P9;B7Z6N8;P20929;Q14215;F8WCL5	.|.;.;.;NEBU_HUMAN;.;.	N|P	572;679|6583;8439;8439;2539;2921;6583;414;352	ENSP00000380498:K572N;ENSP00000389074:K679N|ENSP00000386259:T6583P;ENSP00000380505:T8439P;ENSP00000416578:T8439P;ENSP00000410961:T2921P;ENSP00000172853:T6583P;ENSP00000380497:T414P;ENSP00000427083:T352P	ENSP00000380498:K572N|ENSP00000172853:T6583P	K|T	-|-	3|1	2|0	NEB|NEB	152054820|152054820	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.922000|0.922000	0.55478|0.55478	4.624000|4.624000	0.61254|0.61254	1.962000|1.962000	0.57031|0.57031	0.459000|0.459000	0.35465|0.35465	AAA|ACC		0.408	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
CACNB4	785	broad.mit.edu	37	2	152698423	152698423	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:152698423C>T	ENST00000539935.1	-	13	1363	c.1296G>A	c.(1294-1296)ggG>ggA	p.G432G	CACNB4_ENST00000427385.1_Silent_p.G414G|CACNB4_ENST00000397327.2_Silent_p.G385G|CACNB4_ENST00000360283.6_Silent_p.G399G|CACNB4_ENST00000201943.5_Intron|CACNB4_ENST00000534999.1_Silent_p.G398G	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	432					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.G432G(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	ATACCTGTAACCCAGAAATTG	0.473																																					p.G414G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1242A	2						.						115.0	116.0	116.0					2																	152698423		1974	4152	6126	152406669	SO:0001819	synonymous_variant	785	exon13			AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"""Calcium channel subunits"""	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.1296G>A	2.37:g.152698423C>T			152406669	NM_001005746	A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Silent	SNP	ENST00000539935.1	37	CCDS46426.1																																																																																				0.473	CACNB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338385.4	NM_000726.3	
RPRM	56475	broad.mit.edu	37	2	154335064	154335064	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:154335064C>T	ENST00000325926.3	-	1	258	c.16G>A	c.(16-18)Ggc>Agc	p.G6S	AC012501.2_ENST00000424322.1_RNA	NM_019845.2	NP_062819.1	Q9NS64	RPRM_HUMAN	reprimo, TP53 dependent G2 arrest mediator candidate	6					cell cycle arrest (GO:0007050)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.G6S(1)		large_intestine(2)|lung(1)|prostate(1)	4						GTCTGGTTGCCTAGGGCCGGA	0.736																																					p.G6S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G16A	2						.						11.0	11.0	11.0					2																	154335064		2097	4126	6223	154043310	SO:0001583	missense	56475	exon1			AK074808	CCDS2198.1	2q24.1	2011-01-26	2005-12-01		ENSG00000177519	ENSG00000177519			24201	protein-coding gene	gene with protein product	"""candidate mediator of the p53 dependent G2 arrest"", ""REPRIMO"""	612171	"""reprimo, TP53 dependant G2 arrest mediator candidate"""			10930422	Standard	NM_019845		Approved	FLJ90327, REPRIMO	uc002tyq.1	Q9NS64	OTTHUMG00000131905	ENST00000325926.3:c.16G>A	2.37:g.154335064C>T	ENSP00000314946:p.Gly6Ser		154043310	NM_019845	B2R4V1	Missense_Mutation	SNP	ENST00000325926.3	37	CCDS2198.1	.	.	.	.	.	.	.	.	.	.	C	7.847	0.723240	0.15439	.	.	ENSG00000177519	ENST00000325926	.	.	.	4.54	3.65	0.41850	.	0.438220	0.22170	N	0.063654	T	0.18593	0.0446	N	0.08118	0	0.29857	N	0.827946	B	0.15141	0.012	B	0.06405	0.002	T	0.20107	-1.0285	9	0.07813	T	0.8	1.4247	8.646	0.34005	0.0:0.8931:0.0:0.1069	.	6	Q9NS64	RPRM_HUMAN	S	6	.	ENSP00000314946:G6S	G	-	1	0	RPRM	154043310	0.053000	0.20554	0.970000	0.41538	0.974000	0.67602	0.621000	0.24418	1.094000	0.41399	0.591000	0.81541	GGC		0.736	RPRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254856.1	NM_019845	
GPD2	2820	broad.mit.edu	37	2	157425389	157425389	+	Silent	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:157425389A>T	ENST00000310454.6	+	10	1590	c.1218A>T	c.(1216-1218)acA>acT	p.T406T	GPD2_ENST00000438166.2_Silent_p.T406T|GPD2_ENST00000409674.1_Silent_p.T406T|GPD2_ENST00000409125.4_Silent_p.T179T|GPD2_ENST00000540309.1_Intron	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	406					camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)	p.T406T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						CTCTTGTTACAGACCCCAAAT	0.433																																					p.T406T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1218T	2						.						224.0	205.0	211.0					2																	157425389		2203	4300	6503	157133635	SO:0001819	synonymous_variant	2820	exon10				CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"""EF-hand domain containing"""	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.1218A>T	2.37:g.157425389A>T			157133635	NM_001083112	A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Silent	SNP	ENST00000310454.6	37	CCDS2202.1																																																																																				0.433	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254910.3		
BAZ2B	29994	broad.mit.edu	37	2	160239213	160239213	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:160239213G>A	ENST00000392783.2	-	25	4357	c.3862C>T	c.(3862-3864)Cgc>Tgc	p.R1288C	BAZ2B_ENST00000355831.2_Missense_Mutation_p.R1254C|BAZ2B_ENST00000343439.5_Missense_Mutation_p.R1188C|BAZ2B_ENST00000392782.1_Missense_Mutation_p.R1252C	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1288					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R1288C(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CTTCGCTTGCGTCCTGGAGTG	0.478																																					p.R1288C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3862T	2						.						122.0	120.0	121.0					2																	160239213		2144	4250	6394	159947459	SO:0001583	missense	29994	exon25			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.3862C>T	2.37:g.160239213G>A	ENSP00000376534:p.Arg1288Cys		159947459	NM_013450	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.226398	0.79576	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.02606	4.23;4.23;4.23;4.25	5.69	5.69	0.88448	.	0.201184	0.24492	U	0.038050	T	0.10981	0.0268	L	0.36672	1.1	0.49915	D	0.999833	D;D	0.89917	1.0;0.999	D;P	0.72338	0.977;0.844	T	0.02190	-1.1198	10	0.72032	D	0.01	-1.2319	19.861	0.96785	0.0:0.0:1.0:0.0	.	1252;1288	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	C	1252;1288;1254;1188	ENSP00000376533:R1252C;ENSP00000376534:R1288C;ENSP00000348087:R1254C;ENSP00000339670:R1188C	ENSP00000339670:R1188C	R	-	1	0	BAZ2B	159947459	1.000000	0.71417	0.996000	0.52242	0.965000	0.64279	4.663000	0.61532	2.687000	0.91594	0.585000	0.79938	CGC		0.478	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2		
FAP	2191	broad.mit.edu	37	2	163074538	163074538	+	Silent	SNP	G	G	A	rs185593943		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:163074538G>A	ENST00000188790.4	-	9	927	c.720C>T	c.(718-720)ggC>ggT	p.G240G	FAP_ENST00000443424.1_Silent_p.G215G	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha									p.G240G(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						ATTGTTCATCGCCATAATAGG	0.348													G|||	1	0.000199681	0.0	0.0	5008	,	,		18706	0.0		0.001	False		,,,				2504	0.0				p.G240G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C720T	2						.						109.0	112.0	111.0					2																	163074538		2203	4300	6503	162782784	SO:0001819	synonymous_variant	2191	exon9			U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.720C>T	2.37:g.163074538G>A			162782784	NM_004460		Silent	SNP	ENST00000188790.4	37	CCDS33311.1																																																																																				0.348	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2		
KCNH7	90134	broad.mit.edu	37	2	163291722	163291722	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:163291722A>T	ENST00000332142.5	-	8	2039	c.1940T>A	c.(1939-1941)gTc>gAc	p.V647D	KCNH7_ENST00000328032.4_Missense_Mutation_p.V640D	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	647					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.V647D(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	AATCAACATGACACAAATTGA	0.343																																					p.V640D	GBM(196;1492 2208 17507 24132 45496)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1919A	2						.						98.0	94.0	95.0					2																	163291722		2203	4300	6503	162999968	SO:0001583	missense	90134	exon7			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1940T>A	2.37:g.163291722A>T	ENSP00000331727:p.Val647Asp		162999968	NM_173162	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.413735	0.83449	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.98747	-5.11;-5.11	5.9	5.9	0.94986	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98848	0.9611	M	0.63843	1.955	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.74348	0.983;0.968	D	0.99896	1.1148	10	0.87932	D	0	.	16.3322	0.83039	1.0:0.0:0.0:0.0	.	640;647	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	D	647;640	ENSP00000331727:V647D;ENSP00000333781:V640D	ENSP00000333781:V640D	V	-	2	0	KCNH7	162999968	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.251000	0.74343	0.528000	0.53228	GTC		0.343	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272	
SCN3A	6328	broad.mit.edu	37	2	165997443	165997443	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:165997443A>C	ENST00000360093.3	-	13	2228	c.1737T>G	c.(1735-1737)agT>agG	p.S579R	SCN3A_ENST00000283254.7_Missense_Mutation_p.S579R|SCN3A_ENST00000409101.3_Missense_Mutation_p.S579R	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	579					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.S579R(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GACCTCTGAAACTGAAAATGC	0.453																																					p.S579R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1737G	2						.						88.0	78.0	81.0					2																	165997443		2203	4300	6503	165705689	SO:0001583	missense	6328	exon13			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.1737T>G	2.37:g.165997443A>C	ENSP00000353206:p.Ser579Arg		165705689	NM_006922	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37		.	.	.	.	.	.	.	.	.	.	A	15.60	2.881796	0.51908	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.93604	-3.25;-3.25;-3.25;-3.25	6.07	5.19	0.71726	Domain of unknown function DUF3451 (1);	0.000000	0.85682	D	0.000000	D	0.96352	0.8810	M	0.85099	2.735	0.80722	D	1	P;D;D;D;D	0.76494	0.884;0.997;0.999;0.999;0.997	P;D;D;D;P	0.81914	0.887;0.995;0.994;0.994;0.864	D	0.96348	0.9256	10	0.87932	D	0	.	9.3721	0.38261	0.2059:0.0:0.7941:0.0	.	579;579;579;579;579	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	R	579	ENSP00000353206:S579R;ENSP00000283254:S579R;ENSP00000386726:S579R;ENSP00000403348:S579R	ENSP00000283254:S579R	S	-	3	2	SCN3A	165705689	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.639000	0.46570	1.552000	0.49463	-0.242000	0.12053	AGT		0.453	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922	
XIRP2	129446	broad.mit.edu	37	2	168100923	168100923	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:168100923A>C	ENST00000409195.1	+	9	3110	c.3021A>C	c.(3019-3021)gaA>gaC	p.E1007D	XIRP2_ENST00000409273.1_Missense_Mutation_p.E785D|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E1007D|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	832					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.E1007D(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCCAGCAAGAAGAAATCGTAA	0.378																																					p.E785D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2355C	2						.						64.0	60.0	61.0					2																	168100923		1863	4111	5974	167809169	SO:0001583	missense	129446	exon7			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.3021A>C	2.37:g.168100923A>C	ENSP00000386840:p.Glu1007Asp		167809169	NM_001199144	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	14.02	2.409710	0.42715	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.14766	2.52;2.52;2.48	6.08	2.37	0.29283	.	0.000000	0.85682	D	0.000000	T	0.33818	0.0876	M	0.78637	2.42	0.50039	D	0.999843	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	T	0.01608	-1.1313	10	0.54805	T	0.06	-24.4166	9.1216	0.36791	0.7166:0.0:0.2834:0.0	.	832;832;785	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	D	1007;1007;785	ENSP00000386840:E1007D;ENSP00000295237:E1007D;ENSP00000387255:E785D	ENSP00000295237:E1007D	E	+	3	2	XIRP2	167809169	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	1.264000	0.33015	0.169000	0.19679	-0.274000	0.10170	GAA		0.378	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
XIRP2	129446	broad.mit.edu	37	2	168107137	168107137	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:168107137A>G	ENST00000409195.1	+	9	9324	c.9235A>G	c.(9235-9237)Aca>Gca	p.T3079A	XIRP2_ENST00000409273.1_Missense_Mutation_p.T2857A|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T3079A|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2904				E -> G (in Ref. 8; CAD91137). {ECO:0000305}.	actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.T3079A(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAAAGAGAAAACAGTACAGCA	0.368																																					p.T2857A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A8569G	2						.						81.0	78.0	79.0					2																	168107137		1893	4120	6013	167815383	SO:0001583	missense	129446	exon7			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9235A>G	2.37:g.168107137A>G	ENSP00000386840:p.Thr3079Ala		167815383	NM_001199144	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-2.015724	0.00422	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02525	4.26;4.26;4.26	4.84	-0.603	0.11630	.	1.018130	0.07827	N	0.960775	T	0.01661	0.0053	N	0.19112	0.55	0.09310	N	0.999997	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.08055	0.001;0.003;0.001	T	0.47420	-0.9119	10	0.05721	T	0.95	-0.2824	4.0986	0.10004	0.5548:0.0:0.1741:0.2711	.	2904;2904;2857	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	A	3079;3079;2857;493	ENSP00000386840:T3079A;ENSP00000295237:T3079A;ENSP00000387255:T2857A	ENSP00000295237:T3079A	T	+	1	0	XIRP2	167815383	0.016000	0.18221	0.680000	0.29994	0.231000	0.25187	0.361000	0.20267	0.001000	0.14605	0.455000	0.32223	ACA		0.368	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
LRP2	4036	broad.mit.edu	37	2	170030538	170030538	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:170030538G>A	ENST00000263816.3	-	56	11190	c.10905C>T	c.(10903-10905)tgC>tgT	p.C3635C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3635	LDL-receptor class A 29. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.C3635C(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GGCCCGGCCGGCAGGTCCTGC	0.547																																					p.C3635C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C10905T	2						.						79.0	70.0	73.0					2																	170030538		2203	4300	6503	169738784	SO:0001819	synonymous_variant	4036	exon56				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.10905C>T	2.37:g.170030538G>A			169738784	NM_004525	O00711|Q16215	Silent	SNP	ENST00000263816.3	37	CCDS2232.1																																																																																				0.547	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
LRP2	4036	broad.mit.edu	37	2	170038100	170038100	+	Missense_Mutation	SNP	G	G	A	rs140572511	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:170038100G>A	ENST00000263816.3	-	52	10312	c.10027C>T	c.(10027-10029)Cgc>Tgc	p.R3343C	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3343					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.R3343C(2)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ATGTATGCGCGGTGACCCCAG	0.483													G|||	3	0.000599042	0.0	0.0014	5008	,	,		18730	0.002		0.0	False		,,,				2504	0.0				p.R3343C												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C10027T	2						.	G	CYS/ARG	0,4406		0,0,2203	134.0	111.0	119.0		10027	4.8	0.0	2	dbSNP_134	119	1,8599	1.2+/-3.3	0,1,4299	yes	missense	LRP2	NM_004525.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	3343/4656	170038100	1,13005	2203	4300	6503	169746346	SO:0001583	missense	4036	exon52				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.10027C>T	2.37:g.170038100G>A	ENSP00000263816:p.Arg3343Cys		169746346	NM_004525	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	15.37	2.814695	0.50527	0.0	1.16E-4	ENSG00000081479	ENST00000263816;ENST00000536293	D	0.96685	-4.09	5.66	4.78	0.61160	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.458423	0.24096	N	0.041592	D	0.97888	0.9306	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.65874	0.939	D	0.97976	1.0346	10	0.52906	T	0.07	.	13.7627	0.62977	0.0:0.0:0.7207:0.2793	.	3343	P98164	LRP2_HUMAN	C	3343;38	ENSP00000263816:R3343C	ENSP00000263816:R3343C	R	-	1	0	LRP2	169746346	0.877000	0.30153	0.002000	0.10522	0.223000	0.24884	4.038000	0.57318	1.375000	0.46248	0.655000	0.94253	CGC		0.483	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
FASTKD1	79675	broad.mit.edu	37	2	170428480	170428480	+	Silent	SNP	A	A	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:170428480A>C	ENST00000453153.2	-	2	406	c.60T>G	c.(58-60)gcT>gcG	p.A20A	FASTKD1_ENST00000453929.2_Silent_p.A20A	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	20					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.A20A(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						ATGGACAAATAGCTCTTAGAC	0.353																																					p.A20A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T60G	2						.						61.0	59.0	60.0					2																	170428480		2203	4300	6503	170136726	SO:0001819	synonymous_variant	79675	exon2			AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.60T>G	2.37:g.170428480A>C			170136726	NM_024622	Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Silent	SNP	ENST00000453153.2	37	CCDS33318.1																																																																																				0.353	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	NM_024622	
GAD1	2571	broad.mit.edu	37	2	171687697	171687697	+	Missense_Mutation	SNP	G	G	A	rs141910612		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:171687697G>A	ENST00000358196.3	+	5	1092	c.542G>A	c.(541-543)cGc>cAc	p.R181H	GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000344257.5_Missense_Mutation_p.R181H|GAD1_ENST00000375272.1_Missense_Mutation_p.R181H	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	181					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)	p.R181H(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						TATGGGGTTCGCACAGGTAAG	0.527																																					p.R181H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G542A	2						.	G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	106.0	107.0	107.0		542,542	5.0	1.0	2	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GAD1	NM_000817.2,NM_013445.3	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	181/595,181/225	171687697	1,13005	2203	4300	6503	171395943	SO:0001583	missense	2571	exon5				CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"""glutamate decarboxylase 1 (brain, 67kD)"""	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.542G>A	2.37:g.171687697G>A	ENSP00000350928:p.Arg181His		171395943	NM_000817	Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	37	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.304101	0.81136	0.0	1.16E-4	ENSG00000128683	ENST00000358196;ENST00000375272;ENST00000344257	T;T;T	0.35605	1.3;1.3;1.3	5.9	5.01	0.66863	Pyridoxal phosphate-dependent transferase, major domain (1);	0.090727	0.85682	D	0.000000	T	0.53094	0.1775	L	0.45470	1.425	0.80722	D	1	D;P	0.76494	0.999;0.928	D;B	0.66602	0.945;0.173	T	0.56432	-0.7980	10	0.66056	D	0.02	-13.1981	17.0466	0.86505	0.0:0.1272:0.8728:0.0	.	181;181	Q99259;Q99259-3	DCE1_HUMAN;.	H	181	ENSP00000350928:R181H;ENSP00000364421:R181H;ENSP00000341167:R181H	ENSP00000341167:R181H	R	+	2	0	GAD1	171395943	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.647000	0.83462	1.470000	0.48102	0.643000	0.83706	CGC		0.527	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2		
GAD1	2571	broad.mit.edu	37	2	171709246	171709246	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:171709246C>A	ENST00000358196.3	+	13	1757	c.1207C>A	c.(1207-1209)Cct>Act	p.P403T		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	403					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)	p.P403T(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						CACCTGGAACCCTCACAAGAT	0.512																																					p.P403T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1207A	2						.						180.0	140.0	154.0					2																	171709246		2203	4300	6503	171417492	SO:0001583	missense	2571	exon13				CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"""glutamate decarboxylase 1 (brain, 67kD)"""	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.1207C>A	2.37:g.171709246C>A	ENSP00000350928:p.Pro403Thr		171417492	NM_000817	Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	37	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	C	33	5.279539	0.95489	.	.	ENSG00000128683	ENST00000358196	T	0.51325	0.71	5.91	5.91	0.95273	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.80025	0.4548	H	0.95224	3.64	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85036	0.0920	10	0.87932	D	0	-10.423	20.2983	0.98569	0.0:1.0:0.0:0.0	.	403	Q99259	DCE1_HUMAN	T	403	ENSP00000350928:P403T	ENSP00000350928:P403T	P	+	1	0	GAD1	171417492	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.802000	0.96397	0.655000	0.94253	CCT		0.512	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2		
RAPGEF4	11069	broad.mit.edu	37	2	173855625	173855625	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:173855625A>G	ENST00000397081.3	+	15	1605	c.1462A>G	c.(1462-1464)Aat>Gat	p.N488D	RAPGEF4_ENST00000264111.6_Missense_Mutation_p.N487D|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.N317D|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.N335D|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.N344D|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.N335D|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.N488D|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.N268D|RAPGEF4_ENST00000473043.1_3'UTR	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	488					blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.N488D(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			CAGAGCTTCTAATCAAGGAAA	0.423																																					p.N488D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1462G	2						.						113.0	111.0	112.0					2																	173855625		1966	4167	6133	173563871	SO:0001583	missense	11069	exon15			U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.1462A>G	2.37:g.173855625A>G	ENSP00000380271:p.Asn488Asp		173563871	NM_007023	B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	ENST00000397081.3	37	CCDS42775.1	.	.	.	.	.	.	.	.	.	.	A	13.57	2.276397	0.40294	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000539767;ENST00000535187	T;T;T;T;T;T;T;T	0.64438	0.13;0.13;-0.1;0.01;0.02;0.13;0.13;-0.08	5.61	5.61	0.85477	Ras guanine nucleotide exchange factor, domain (1);	0.199486	0.51477	D	0.000089	T	0.53948	0.1828	L	0.43152	1.355	0.40738	D	0.982803	B;B;B;B	0.19817	0.037;0.039;0.004;0.001	B;B;B;B	0.24394	0.053;0.018;0.008;0.002	T	0.54370	-0.8304	10	0.48119	T	0.1	.	10.1908	0.43026	0.9257:0.0:0.0743:0.0	.	315;317;344;488	B7Z805;B7Z2R0;Q8WZA2-3;Q8WZA2	.;.;.;RPGF4_HUMAN	D	487;488;488;344;317;335;335;315;268	ENSP00000264111:N487D;ENSP00000380271:N488D;ENSP00000387104:N488D;ENSP00000380276:N344D;ENSP00000440135:N317D;ENSP00000440250:N335D;ENSP00000437384:N335D;ENSP00000438011:N268D	ENSP00000264111:N487D	N	+	1	0	RAPGEF4	173563871	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.142000	0.58044	2.133000	0.65898	0.460000	0.39030	AAT		0.423	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023	
SP3	6670	broad.mit.edu	37	2	174820364	174820364	+	Silent	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:174820364G>T	ENST00000310015.6	-	4	1406	c.876C>A	c.(874-876)gcC>gcA	p.A292A	SP3_ENST00000483084.1_5'Flank|SP3_ENST00000455789.2_Silent_p.A239A|SP3_ENST00000418194.2_Silent_p.A224A	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	292					B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.A292A(1)	EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			AATGTCCGTCGGCATTAATGC	0.423																																					p.A289A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C867A	2						.						103.0	104.0	104.0					2																	174820364		2203	4300	6503	174528610	SO:0001819	synonymous_variant	6670	exon4			M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.876C>A	2.37:g.174820364G>T			174528610	NM_001172712	A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Silent	SNP	ENST00000310015.6	37	CCDS2254.1	.	.	.	.	.	.	.	.	.	.	g	4.642	0.119400	0.08881	.	.	ENSG00000172845	ENST00000416195	.	.	.	5.8	-1.93	0.07594	.	.	.	.	.	T	0.48169	0.1485	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41448	-0.9508	4	.	.	.	.	4.9846	0.14183	0.4438:0.0:0.2009:0.3553	.	.	.	.	Q	249	.	.	P	-	2	0	SP3	174528610	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	1.178000	0.31981	0.081000	0.16988	-0.970000	0.02610	CCG		0.423	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255452.1	NM_003111	
TTC30A	92104	broad.mit.edu	37	2	178482983	178482983	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:178482983T>C	ENST00000355689.5	-	1	711	c.447A>G	c.(445-447)ggA>ggG	p.G149G	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	149					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)		p.G149G(1)		autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			CATTGTCGCCTCCACTTTCTT	0.577																																					p.G149G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A447G	2						.						133.0	134.0	134.0					2																	178482983		2203	4300	6503	178191229	SO:0001819	synonymous_variant	92104	exon1			AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"""Tetratricopeptide (TTC) repeat domain containing"""	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.447A>G	2.37:g.178482983T>C			178191229	NM_152275	A8K8N0|Q8IVP2	Silent	SNP	ENST00000355689.5	37	CCDS2276.1																																																																																				0.577	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2	NM_152275	
RBM45	129831	broad.mit.edu	37	2	178990776	178990776	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:178990776C>T	ENST00000286070.5	+	9	1390	c.1298C>T	c.(1297-1299)gCc>gTc	p.A433V		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	435	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A433V(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			GCCAAGTATGCCGATAGAATA	0.388																																					p.A433V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1298T	2						.						160.0	145.0	150.0					2																	178990776		2203	4300	6503	178699022	SO:0001583	missense	129831	exon9			AF526533	CCDS33335.1	2q31.2	2013-02-12			ENSG00000155636	ENSG00000155636		"""RNA binding motif (RRM) containing"""	24468	protein-coding gene	gene with protein product	"""developmentally regulated RNA binding protein 1"""	608888				12220514	Standard	XM_005246287		Approved	DRB1, FLJ44612	uc002ulv.3	Q8IUH3	OTTHUMG00000154202	ENST00000286070.5:c.1298C>T	2.37:g.178990776C>T	ENSP00000286070:p.Ala433Val		178699022	NM_152945	Q6NYL0|Q8NFC9	Missense_Mutation	SNP	ENST00000286070.5	37	CCDS33335.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.361173|5.361173	0.95877|0.95877	.|.	.|.	ENSG00000155636|ENSG00000155636	ENST00000286070|ENST00000455903	T|.	0.06218|.	3.33|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.047688|.	0.85682|.	D|.	0.000000|.	T|T	0.74030|0.74030	0.3663|0.3663	M|M	0.62266|0.62266	1.93|1.93	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.74674|.	0.984|.	T|T	0.70898|0.70898	-0.4747|-0.4747	10|5	0.51188|.	T|.	0.08|.	-18.3773|-18.3773	18.9233|18.9233	0.92534|0.92534	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	433|.	Q8IUH3-3|.	.|.	V|S	433|94	ENSP00000286070:A433V|.	ENSP00000286070:A433V|.	A|P	+|+	2|1	0|0	RBM45|RBM45	178699022|178699022	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	7.450000|7.450000	0.80656|0.80656	2.703000|2.703000	0.92315|0.92315	0.655000|0.655000	0.94253|0.94253	GCC|CCG		0.388	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334375.2	NM_152945	
TTN	7273	broad.mit.edu	37	2	179397815	179397815	+	Silent	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:179397815A>T	ENST00000591111.1	-	308	98828	c.98604T>A	c.(98602-98604)ctT>ctA	p.L32868L	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN_ENST00000359218.5_Silent_p.L25569L|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000460472.2_Silent_p.L25444L|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.L25636L|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000342992.6_Silent_p.L31941L|TTN_ENST00000589042.1_Silent_p.L34509L|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585358.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32868					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.L31939L(1)|p.L25444L(1)|p.L25569L(1)|p.L25636L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCGGTTTATAAAGGACAGCAG	0.428																																					p.F25444Y												.	.	4	Substitution - coding silent(4)	large_intestine(4)	c.T76331A	2						.						209.0	207.0	208.0					2																	179397815		1892	4104	5996	179106061	SO:0001819	synonymous_variant	7273	exon186			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.98604T>A	2.37:g.179397815A>T			179106061	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179411868	179411868	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:179411868G>A	ENST00000591111.1	-	290	89685	c.89461C>T	c.(89461-89463)Cca>Tca	p.P29821S	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P22522S|TTN_ENST00000460472.2_Missense_Mutation_p.P22397S|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P22589S|TTN_ENST00000342992.6_Missense_Mutation_p.P28894S|TTN_ENST00000589042.1_Missense_Mutation_p.P31462S|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29821	Fibronectin type-III 117. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.P22589S(1)|p.P22397S(1)|p.P28892S(1)|p.P22522S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTAAGCATGGCACTTTGTTT	0.423																																					p.C22396C												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C67188T	2						.						327.0	318.0	321.0					2																	179411868		1909	4136	6045	179120114	SO:0001583	missense	7273	exon168			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.89461C>T	2.37:g.179411868G>A	ENSP00000465570:p.Pro29821Ser		179120114	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	14.91	2.675932	0.47886	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	6.03	5.16	0.70880	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52741	0.1753	L	0.60845	1.875	0.58432	D	0.999998	B;B;B;B	0.25441	0.126;0.126;0.126;0.126	B;B;B;B	0.27170	0.077;0.077;0.077;0.077	T	0.54616	-0.8267	9	0.87932	D	0	.	15.5956	0.76578	0.0658:0.0:0.9342:0.0	.	22397;22522;22589;29821	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	28894;22397;22589;22522;22394	ENSP00000343764:P28894S;ENSP00000434586:P22397S;ENSP00000340554:P22589S;ENSP00000352154:P22522S	ENSP00000340554:P22589S	P	-	1	0	TTN	179120114	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.876000	0.87215	1.556000	0.49512	0.655000	0.94253	CCA		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179412020	179412020	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:179412020G>A	ENST00000591111.1	-	290	89533	c.89309C>T	c.(89308-89310)gCt>gTt	p.A29770V	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A22471V|TTN_ENST00000460472.2_Missense_Mutation_p.A22346V|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A22538V|TTN_ENST00000342992.6_Missense_Mutation_p.A28843V|TTN_ENST00000589042.1_Missense_Mutation_p.A31411V|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29770	Fibronectin type-III 117. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.A22538V(1)|p.A22471V(1)|p.A28841V(1)|p.A22346V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGGTAGGAGCGCTTGGTGG	0.388																																					p.L22346F												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C67036T	2						.						95.0	89.0	91.0					2																	179412020		1860	4103	5963	179120266	SO:0001583	missense	7273	exon168			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.89309C>T	2.37:g.179412020G>A	ENSP00000465570:p.Ala29770Val		179120266	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	20.2	3.956581	0.73902	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.61742	0.08;0.08;0.08;0.08	6.03	6.03	0.97812	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66307	0.2776	L	0.56769	1.78	0.48341	D	0.99963	P;P;P;P	0.51537	0.946;0.946;0.946;0.946	P;P;P;P	0.48952	0.596;0.596;0.596;0.596	T	0.68224	-0.5465	9	0.87932	D	0	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	22346;22471;22538;29770	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	28843;22346;22538;22471;22343	ENSP00000343764:A28843V;ENSP00000434586:A22346V;ENSP00000340554:A22538V;ENSP00000352154:A22471V	ENSP00000340554:A22538V	A	-	2	0	TTN	179120266	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.866000	0.99616	2.854000	0.98071	0.655000	0.94253	GCT		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179435747	179435747	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:179435747T>G	ENST00000591111.1	-	276	70413	c.70189A>C	c.(70189-70191)Atc>Ctc	p.I23397L	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I16098L|TTN_ENST00000460472.2_Missense_Mutation_p.I15973L|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I16165L|TTN_ENST00000342992.6_Missense_Mutation_p.I22470L|TTN_ENST00000589042.1_Missense_Mutation_p.I25038L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23397	Fibronectin type-III 70. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.I15973L(1)|p.I16098L(1)|p.I22468L(1)|p.I16165L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAACCAGTGATCTTGCTTCCA	0.438																																					p.R15972S												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.A47916C	2						.						163.0	165.0	164.0					2																	179435747		1895	4118	6013	179143993	SO:0001583	missense	7273	exon154			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.70189A>C	2.37:g.179435747T>G	ENSP00000465570:p.Ile23397Leu		179143993	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	12.80	2.046142	0.36085	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	5.28	4.1	0.47936	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.59729	0.2215	M	0.76727	2.345	0.45046	D	0.998061	B;B;B;B	0.30763	0.294;0.294;0.294;0.294	B;B;B;B	0.34652	0.187;0.187;0.187;0.187	T	0.62086	-0.6928	9	0.87932	D	0	.	11.5172	0.50529	0.0:0.0714:0.0:0.9286	.	15973;16098;16165;23397	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	22470;15973;16165;16098;15971	ENSP00000343764:I22470L;ENSP00000434586:I15973L;ENSP00000340554:I16165L;ENSP00000352154:I16098L	ENSP00000340554:I16165L	I	-	1	0	TTN	179143993	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.128000	0.57951	0.928000	0.37168	0.528000	0.53228	ATC		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179440529	179440529	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:179440529G>A	ENST00000591111.1	-	276	65631	c.65407C>T	c.(65407-65409)Cct>Tct	p.P21803S	TTN-AS1_ENST00000590807.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P14504S|TTN_ENST00000460472.2_Missense_Mutation_p.P14379S|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P14571S|TTN_ENST00000342992.6_Missense_Mutation_p.P20876S|TTN_ENST00000589042.1_Missense_Mutation_p.P23444S|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21803	Fibronectin type-III 58. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.P14571S(1)|p.P14504S(1)|p.P20874S(1)|p.P14379S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGTCTGTAGGCCGCAGGTTG	0.507																																					p.G14378G												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C43134T	2						.						95.0	100.0	98.0					2																	179440529		2105	4241	6346	179148775	SO:0001583	missense	7273	exon154			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.65407C>T	2.37:g.179440529G>A	ENSP00000465570:p.Pro21803Ser		179148775	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	11.08	1.532387	0.27387	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	5.66	5.66	0.87406	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.56702	0.2003	L	0.34521	1.04	0.48288	D	0.999623	P;P;P;P	0.52692	0.885;0.885;0.955;0.955	P;P;P;P	0.54889	0.589;0.589;0.763;0.763	T	0.59402	-0.7461	9	0.87932	D	0	.	15.2347	0.73419	0.0:0.1401:0.8599:0.0	.	14379;14504;14571;21803	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	20876;14379;14571;14504;14377	ENSP00000343764:P20876S;ENSP00000434586:P14379S;ENSP00000340554:P14571S;ENSP00000352154:P14504S	ENSP00000340554:P14571S	P	-	1	0	TTN	179148775	1.000000	0.71417	0.995000	0.50966	0.830000	0.47004	4.718000	0.61930	2.680000	0.91292	0.650000	0.86243	CCT		0.507	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179466155	179466155	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:179466155T>C	ENST00000591111.1	-	237	50870	c.50646A>G	c.(50644-50646)ggA>ggG	p.G16882G	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Silent_p.G9583G|TTN_ENST00000460472.2_Silent_p.G9458G|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.G9650G|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Silent_p.G15955G|TTN_ENST00000589042.1_Silent_p.G18523G|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16882	Fibronectin type-III 22. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.G9458G(1)|p.G9583G(1)|p.G15955G(1)|p.G9650G(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCAGGCTTTTCCATCAATAG	0.458																																					p.G9458G												.	.	4	Substitution - coding silent(4)	large_intestine(4)	c.A28374G	2						.						135.0	130.0	132.0					2																	179466155		1941	4132	6073	179174400	SO:0001819	synonymous_variant	7273	exon115			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.50646A>G	2.37:g.179466155T>C			179174400	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179468822	179468822	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:179468822T>C	ENST00000591111.1	-	232	49893	c.49669A>G	c.(49669-49671)Att>Gtt	p.I16557V	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I9258V|TTN_ENST00000460472.2_Missense_Mutation_p.I9133V|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I9325V|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I15630V|TTN_ENST00000589042.1_Missense_Mutation_p.I18198V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16557	Fibronectin type-III 20. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.I9325V(1)|p.I15630V(1)|p.I9258V(1)|p.I9133V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGCCAGTAATTGGAGAGCCA	0.493																																					p.I9133V												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.A27397G	2						.						187.0	188.0	187.0					2																	179468822		1906	4129	6035	179177067	SO:0001583	missense	7273	exon110			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.49669A>G	2.37:g.179468822T>C	ENSP00000465570:p.Ile16557Val		179177067	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	14.09	2.431569	0.43122	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60171	0.21;0.21;0.21;0.21	6.16	6.16	0.99307	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72228	0.3434	L	0.51422	1.61	0.58432	D	0.999999	D;D;D;D	0.63880	0.993;0.993;0.993;0.993	D;D;D;D	0.76071	0.987;0.987;0.987;0.987	T	0.74064	-0.3785	9	0.87932	D	0	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	9133;9258;9325;16557	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	15630;9133;9325;9258;9133	ENSP00000343764:I15630V;ENSP00000434586:I9133V;ENSP00000340554:I9325V;ENSP00000352154:I9258V	ENSP00000340554:I9325V	I	-	1	0	TTN	179177067	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.230000	0.72301	2.367000	0.80283	0.528000	0.53228	ATT		0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179469957	179469957	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:179469957G>A	ENST00000591111.1	-	230	49248	c.49024C>T	c.(49024-49026)Cct>Tct	p.P16342S	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P9043S|TTN_ENST00000460472.2_Missense_Mutation_p.P8918S|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P9110S|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P15415S|TTN_ENST00000589042.1_Missense_Mutation_p.P17983S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16342	Ig-like 100.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.P8918S(1)|p.P15415S(1)|p.P9043S(1)|p.P9110S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGTGGACAGGCTCTCCTGCC	0.428																																					p.P8918S												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C26752T	2						.						38.0	37.0	37.0					2																	179469957		1872	4091	5963	179178202	SO:0001583	missense	7273	exon108			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.49024C>T	2.37:g.179469957G>A	ENSP00000465570:p.Pro16342Ser		179178202	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	12.37	1.917673	0.33815	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.38722	1.12;1.12;1.12;1.12	5.74	5.74	0.90152	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.31638	0.0803	N	0.16037	0.36	0.48830	D	0.999713	B;B;P;P	0.43788	0.433;0.433;0.689;0.817	B;B;B;B	0.38880	0.175;0.175;0.175;0.284	T	0.26573	-1.0099	9	0.87932	D	0	.	19.9346	0.97133	0.0:0.0:1.0:0.0	.	8918;9043;9110;16342	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	15415;8918;9110;9043;8918	ENSP00000343764:P15415S;ENSP00000434586:P8918S;ENSP00000340554:P9110S;ENSP00000352154:P9043S	ENSP00000340554:P9110S	P	-	1	0	TTN	179178202	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.235000	0.51328	2.712000	0.92718	0.563000	0.77884	CCT		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179481263	179481263	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:179481263A>T	ENST00000591111.1	-	207	43556	c.43332T>A	c.(43330-43332)agT>agA	p.S14444R	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S7145R|TTN_ENST00000460472.2_Missense_Mutation_p.S7020R|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S7212R|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S13517R|TTN_ENST00000589042.1_Missense_Mutation_p.S16085R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA			Q8WZ42	TITIN_HUMAN	titin	14444	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.S7212R(1)|p.S7020R(1)|p.S13517R(1)|p.S7145R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGTTAACGGACTTCCTCCAT	0.428																																					p.S7020R												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.T21060A	2						.						171.0	161.0	164.0					2																	179481263		1936	4130	6066	179189508	SO:0001583	missense	7273	exon85			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.43332T>A	2.37:g.179481263A>T	ENSP00000465570:p.Ser14444Arg		179189508	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	A	10.03	1.238886	0.22711	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.91	4.56	0.56223	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69913	0.3164	M	0.79343	2.45	0.44515	D	0.997468	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.73347	-0.4011	9	0.87932	D	0	.	9.7017	0.40192	0.8535:0.0:0.1465:0.0	.	7020;7145;7212;14444	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	13517;7020;7212;7145;7020	ENSP00000343764:S13517R;ENSP00000434586:S7020R;ENSP00000340554:S7212R;ENSP00000352154:S7145R	ENSP00000340554:S7212R	S	-	3	2	TTN	179189508	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	2.398000	0.44486	2.254000	0.74563	0.533000	0.62120	AGT		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179516633	179516633	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:179516633T>C	ENST00000591111.1	-	160	35060	c.34836A>G	c.(34834-34836)ccA>ccG	p.P11612P	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Silent_p.P10685P|TTN_ENST00000589042.1_Silent_p.P13119P|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11612	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.P10685P(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCGCTGGCTCTGGCTCTTCCA	0.527																																					p.P10685P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A32055G	2						.						29.0	30.0	30.0					2																	179516633		1910	4132	6042	179224878	SO:0001819	synonymous_variant	7273	exon159			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34836A>G	2.37:g.179516633T>C			179224878	NM_133378	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.527	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179538427	179538427	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:179538427C>T	ENST00000591111.1	-	148	33821	c.33597G>A	c.(33595-33597)gtG>gtA	p.V11199V	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Silent_p.V10272V|TTN_ENST00000589042.1_Silent_p.V11573V|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11199	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V10272V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTCTTAATCACTTCAGGCA	0.343																																					p.V10272V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G30816A	2						.						90.0	84.0	86.0					2																	179538427		1817	4071	5888	179246672	SO:0001819	synonymous_variant	7273	exon147			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.33597G>A	2.37:g.179538427C>T			179246672	NM_133378	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.343	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179539821	179539821	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:179539821C>A	ENST00000591111.1	-	146	33659	c.33435G>T	c.(33433-33435)aaG>aaT	p.K11145N	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K10218N|TTN_ENST00000589042.1_Missense_Mutation_p.K11519N|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11145	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.K10218N(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCTTCCACCTTCTTAGGCA	0.358																																					p.K10218N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G30654T	2						.						94.0	90.0	91.0					2																	179539821		1839	4079	5918	179248066	SO:0001583	missense	7273	exon145			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.33435G>T	2.37:g.179539821C>A	ENSP00000465570:p.Lys11145Asn		179248066	NM_133378	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	8.097	0.775788	0.16051	.	.	ENSG00000155657	ENST00000342992	T	0.70631	-0.5	5.7	0.78	0.18556	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.64983	0.2648	M	0.64170	1.965	0.80722	D	1	B	0.17667	0.023	B	0.20955	0.032	T	0.59375	-0.7466	9	0.87932	D	0	.	8.9889	0.36010	0.0:0.2895:0.0:0.7105	.	11145	Q8WZ42	TITIN_HUMAN	N	10218	ENSP00000343764:K10218N	ENSP00000343764:K10218N	K	-	3	2	TTN	179248066	0.001000	0.12720	0.733000	0.30861	0.319000	0.28217	0.026000	0.13599	-0.086000	0.12550	-0.484000	0.04775	AAG		0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179569237	179569237	+	Splice_Site	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:179569237C>T	ENST00000591111.1	-	103	29235	c.29011G>A	c.(29011-29013)Gag>Aag	p.E9671K	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Splice_Site_p.E8744K|TTN_ENST00000589042.1_Splice_Site_p.E9988K|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13747	Ig-like 78.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTAACTTACCAATTACAGTT	0.383																																					p.E8744K												.	.	0			c.G26230A	2						.						85.0	80.0	82.0					2																	179569237		1891	4117	6008	179277482	SO:0001630	splice_region_variant	7273	exon102			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.29011+1G>A	2.37:g.179569237C>T			179277482	NM_133378	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	19.53	3.844237	0.71488	.	.	ENSG00000155657	ENST00000342992	T	0.46819	0.86	5.99	5.99	0.97316	Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55016	0.1894	L	0.45581	1.43	0.80722	D	1	D	0.58268	0.982	P	0.51266	0.664	T	0.45366	-0.9266	8	.	.	.	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	9671	Q8WZ42	TITIN_HUMAN	K	8744	ENSP00000343764:E8744K	.	E	-	1	0	TTN	179277482	1.000000	0.71417	0.988000	0.46212	0.923000	0.55619	7.818000	0.86416	2.840000	0.97914	0.655000	0.94253	GAG		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Missense_Mutation
TTN	7273	broad.mit.edu	37	2	179644127	179644127	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:179644127C>A	ENST00000591111.1	-	23	4016	c.3792G>T	c.(3790-3792)aaG>aaT	p.K1264N	TTN_ENST00000359218.5_Missense_Mutation_p.K1218N|TTN_ENST00000460472.2_Missense_Mutation_p.K1218N|TTN_ENST00000360870.5_Missense_Mutation_p.K1264N|TTN_ENST00000342175.6_Missense_Mutation_p.K1218N|TTN_ENST00000342992.6_Missense_Mutation_p.K1264N|TTN_ENST00000589042.1_Missense_Mutation_p.K1264N|RP11-88L24.4_ENST00000582038.2_RNA			Q8WZ42	TITIN_HUMAN	titin	33468					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.K1218N(3)|p.K1264N(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTAATGTAGTCTTTATTATTC	0.299																																					p.K1264N												.	.	5	Substitution - Missense(5)	large_intestine(5)	c.G3792T	2						.						27.0	28.0	28.0					2																	179644127		2196	4287	6483	179352372	SO:0001583	missense	7273	exon23			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.3792G>T	2.37:g.179644127C>A	ENSP00000465570:p.Lys1264Asn		179352372	NM_133379	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	10.72	1.429371	0.25726	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.64803	-0.12;0.14;0.13;0.12;0.29	5.87	3.13	0.36017	Ribonuclease H-like (1);	.	.	.	.	T	0.48995	0.1531	L	0.32530	0.975	0.23063	N	0.998353	B;B;B;B;P	0.42518	0.016;0.016;0.016;0.126;0.782	B;B;B;B;B	0.37650	0.008;0.008;0.008;0.015;0.255	T	0.34750	-0.9816	9	0.87932	D	0	.	9.0592	0.36425	0.0:0.7295:0.0:0.2705	.	1218;1218;1218;1264;1264	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	N	1264;1218;1218;1218;1218;1264	ENSP00000343764:K1264N;ENSP00000434586:K1218N;ENSP00000340554:K1218N;ENSP00000352154:K1218N;ENSP00000354117:K1264N	ENSP00000340554:K1218N	K	-	3	2	TTN	179352372	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	0.472000	0.22116	0.403000	0.25479	0.655000	0.94253	AAG		0.299	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
MYT1L	23040	broad.mit.edu	37	2	1843092	1843092	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:1843092G>A	ENST00000399161.2	-	21	3656	c.2909C>T	c.(2908-2910)gCg>gTg	p.A970V	MYT1L_ENST00000407844.1_5'UTR|MYT1L_ENST00000428368.2_Missense_Mutation_p.A968V|MYT1L_ENST00000471668.1_5'UTR	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	970					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.A970V(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GCGATGGGACGCGTACTTCCC	0.637																																					p.A968V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2903T	2						.						46.0	54.0	52.0					2																	1843092		2038	4150	6188	1822099	SO:0001583	missense	23040	exon21			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2909C>T	2.37:g.1843092G>A	ENSP00000382114:p.Ala970Val		1822099	NM_015025	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37		.	.	.	.	.	.	.	.	.	.	G	18.18	3.567216	0.65651	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000399157;ENST00000428368	T;T	0.50001	0.76;0.77	5.76	5.76	0.90799	.	0.048351	0.85682	D	0.000000	T	0.52597	0.1744	M	0.68317	2.08	0.58432	D	0.999999	P;P	0.50528	0.936;0.921	B;B	0.42386	0.386;0.267	T	0.57266	-0.7841	10	0.51188	T	0.08	-35.9375	19.9772	0.97314	0.0:0.0:1.0:0.0	.	970;968	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	V	970;916;24;968	ENSP00000382114:A970V;ENSP00000396103:A968V	ENSP00000295067:A916V	A	-	2	0	MYT1L	1822099	1.000000	0.71417	0.992000	0.48379	0.499000	0.33736	7.893000	0.87330	2.724000	0.93272	0.563000	0.77884	GCG		0.637	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025	
CCDC141	285025	broad.mit.edu	37	2	179701635	179701635	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:179701635C>T	ENST00000420890.2	-	23	4428	c.4311G>A	c.(4309-4311)gaG>gaA	p.E1437E	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Silent_p.E862E	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1437	Ig-like.							p.E862E(1)|p.E1437E(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCAGTGTAGGCTCTGGAAATC	0.418																																					p.E1437E												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G4311A	2						.						84.0	82.0	82.0					2																	179701635		2203	4300	6503	179409880	SO:0001819	synonymous_variant	285025	exon23			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.4311G>A	2.37:g.179701635C>T			179409880	NM_173648	H7C0P1|J3KNW6|Q8N8H3	Silent	SNP	ENST00000420890.2	37																																																																																					0.418	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648	
NCKAP1	10787	broad.mit.edu	37	2	183888545	183888545	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:183888545G>A	ENST00000361354.4	-	2	580	c.208C>T	c.(208-210)Cgc>Tgc	p.R70C	Y_RNA_ENST00000365271.1_RNA|NCKAP1_ENST00000360982.2_Missense_Mutation_p.R76C	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	70					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)	p.R76C(1)		breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTGTTGTTGCGGGTTTCTACA	0.368																																					p.R70C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C208T	2						.						164.0	164.0	164.0					2																	183888545		2203	4298	6501	183596790	SO:0001583	missense	10787	exon2			AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.208C>T	2.37:g.183888545G>A	ENSP00000355348:p.Arg70Cys		183596790	NM_013436	O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188157	0.78789	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.38240	1.15;1.15	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.59224	0.2178	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.99	T	0.60296	-0.7291	10	0.87932	D	0	-6.8577	19.5718	0.95423	0.0:0.0:1.0:0.0	.	70;76	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	C	70;76	ENSP00000355348:R70C;ENSP00000354251:R76C	ENSP00000354251:R76C	R	-	1	0	NCKAP1	183596790	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	7.849000	0.86908	2.715000	0.92844	0.585000	0.79938	CGC		0.368	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842	
NT5C1B	93034	broad.mit.edu	37	2	18765458	18765458	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:18765458C>T	ENST00000359846.2	-	6	1044	c.967G>A	c.(967-969)Ggc>Agc	p.G323S	NT5C1B_ENST00000600945.1_Missense_Mutation_p.G323S|RNU6-1215P_ENST00000384441.1_RNA|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.G323S|NT5C1B_ENST00000304081.4_Missense_Mutation_p.G263S|NT5C1B_ENST00000460052.1_5'Flank	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	323					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)	p.G323S(1)		endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				ATTTTCCTGCCGTCCACCATG	0.552																																					p.G263S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G787A	2						.						165.0	157.0	160.0					2																	18765458		2203	4300	6503	18628939	SO:0001583	missense	93034	exon5			AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.967G>A	2.37:g.18765458C>T	ENSP00000352904:p.Gly323Ser		18628939	NM_033253	B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	ENST00000359846.2	37	CCDS33150.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.177290	0.38413	.	.	ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846	D	0.88586	-2.4	5.58	4.71	0.59529	.	0.366985	0.32852	N	0.005561	T	0.69663	0.3136	N	0.02674	-0.535	0.31997	N	0.603868	B;B;B;B;B;B;B;B;B	0.30326	0.091;0.091;0.091;0.091;0.07;0.085;0.147;0.091;0.276	B;B;B;B;B;B;B;B;B	0.20767	0.014;0.014;0.014;0.014;0.003;0.014;0.031;0.014;0.024	T	0.68213	-0.5468	10	0.05525	T	0.97	-13.8612	14.8118	0.70000	0.0:0.9306:0.0:0.0694	.	306;340;263;306;265;115;263;323;323	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-3;Q96P26-2;Q96P26;Q96P26-4	.;.;.;.;.;.;.;5NT1B_HUMAN;.	S	323;265;263;323	ENSP00000412639:G265S	ENSP00000305979:G263S	G	-	1	0	NT5C1B-RDH14;NT5C1B	18628939	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	5.734000	0.68580	1.495000	0.48549	0.650000	0.86243	GGC		0.552	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1		
ZNF804A	91752	broad.mit.edu	37	2	185800768	185800768	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:185800768T>C	ENST00000302277.6	+	4	1239	c.645T>C	c.(643-645)tcT>tcC	p.S215S		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	215							metal ion binding (GO:0046872)	p.S215S(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TCGGCTTTTCTTTTGCATTTC	0.433																																					p.S215S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T645C	2						.						66.0	67.0	66.0					2																	185800768		2203	4300	6503	185509013	SO:0001819	synonymous_variant	91752	exon4			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.645T>C	2.37:g.185800768T>C			185509013	NM_194250	A7E253|Q6ZN26	Silent	SNP	ENST00000302277.6	37	CCDS2291.1																																																																																				0.433	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250	
COL3A1	1281	broad.mit.edu	37	2	189863040	189863040	+	Missense_Mutation	SNP	G	G	A	rs587779475|rs189846410		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:189863040G>A	ENST00000304636.3	+	28	2142	c.1972G>A	c.(1972-1974)Gaa>Aaa	p.E658K	COL3A1_ENST00000317840.5_Missense_Mutation_p.E658K	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	658	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.E658K(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	AAAACCTGGGGAACCAGTAAG	0.353													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15674	0.0		0.0	False		,,,				2504	0.0				p.E658K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1972A	2						.						56.0	58.0	58.0					2																	189863040		2203	4300	6503	189571285	SO:0001583	missense	1281	exon28			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.1972G>A	2.37:g.189863040G>A	ENSP00000304408:p.Glu658Lys		189571285	NM_000090	D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	CCDS2297.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	18.87	3.716071	0.68844	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.93247	-3.19;-3.19	5.63	5.63	0.86233	.	0.134260	0.33553	N	0.004796	D	0.89132	0.6628	N	0.21617	0.685	0.58432	D	0.999996	B	0.30104	0.268	B	0.32583	0.148	D	0.85242	0.1039	10	0.18276	T	0.48	.	20.0401	0.97581	0.0:0.0:1.0:0.0	.	658	P02461	CO3A1_HUMAN	K	658	ENSP00000304408:E658K;ENSP00000315243:E658K	ENSP00000304408:E658K	E	+	1	0	COL3A1	189571285	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.242000	0.95408	2.805000	0.96524	0.655000	0.94253	GAA		0.353	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090	
ASNSD1	54529	broad.mit.edu	37	2	190531841	190531841	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:190531841G>A	ENST00000260952.4	+	4	1396	c.983G>A	c.(982-984)gGg>gAg	p.G328E	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	328	Asparagine synthetase.				asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)	p.G328E(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			CTGTTTTCTGGGGGCATTGAT	0.388																																					p.G328E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G983A	2						.						212.0	203.0	206.0					2																	190531841		2203	4300	6503	190240086	SO:0001583	missense	54529	exon4			AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.983G>A	2.37:g.190531841G>A	ENSP00000260952:p.Gly328Glu		190240086	NM_019048	D3DPH6|Q3LIC3|Q4ZG45	Missense_Mutation	SNP	ENST00000260952.4	37	CCDS2300.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.742393	0.89573	.	.	ENSG00000138381	ENST00000260952;ENST00000420250	D;D	0.91577	-2.87;-2.87	6.17	6.17	0.99709	Rossmann-like alpha/beta/alpha sandwich fold (1);Asparagine synthase (1);	0.043967	0.85682	D	0.000000	D	0.96953	0.9005	M	0.94101	3.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96875	0.9642	10	0.87932	D	0	-0.9646	20.8794	0.99867	0.0:0.0:1.0:0.0	.	328	Q9NWL6	ASND1_HUMAN	E	328	ENSP00000260952:G328E;ENSP00000406790:G328E	ENSP00000260952:G328E	G	+	2	0	ASNSD1	190240086	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	9.430000	0.97488	2.941000	0.99782	0.655000	0.94253	GGG		0.388	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3	NM_019048	
MYT1L	23040	broad.mit.edu	37	2	1926664	1926664	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:1926664C>A	ENST00000399161.2	-	10	1624	c.877G>T	c.(877-879)Gac>Tac	p.D293Y	MYT1L_ENST00000428368.2_Missense_Mutation_p.D293Y	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	293					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.D293Y(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TTTCTACTGTCTTGCTGCGAC	0.463																																					p.D293Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G877T	2						.						197.0	197.0	197.0					2																	1926664		2080	4217	6297	1905671	SO:0001583	missense	23040	exon10			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.877G>T	2.37:g.1926664C>A	ENSP00000382114:p.Asp293Tyr		1905671	NM_015025	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37		.	.	.	.	.	.	.	.	.	.	C	12.89	2.073795	0.36566	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.55760	0.5;0.5	6.05	6.05	0.98169	.	0.121338	0.53938	D	0.000049	T	0.51058	0.1652	L	0.29908	0.895	0.54753	D	0.999989	P;P	0.42649	0.681;0.786	B;B	0.44044	0.254;0.439	T	0.50533	-0.8817	10	0.56958	D	0.05	-47.5429	20.6032	0.99464	0.0:1.0:0.0:0.0	.	293;293	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	Y	293;241;293	ENSP00000382114:D293Y;ENSP00000396103:D293Y	ENSP00000295067:D241Y	D	-	1	0	MYT1L	1905671	0.997000	0.39634	0.084000	0.20598	0.036000	0.12997	3.563000	0.53784	2.875000	0.98604	0.643000	0.83706	GAC		0.463	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025	
ANKAR	150709	broad.mit.edu	37	2	190541334	190541334	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:190541334C>T	ENST00000520309.1	+	2	206	c.118C>T	c.(118-120)Cgg>Tgg	p.R40W	ANKAR_ENST00000281412.6_5'UTR|ANKAR_ENST00000461516.1_Intron|ANKAR_ENST00000313581.4_Missense_Mutation_p.R40W|ANKAR_ENST00000431575.2_5'UTR|ANKAR_ENST00000438402.2_Missense_Mutation_p.R40W	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	40						integral component of membrane (GO:0016021)		p.R40W(1)		breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AAAATATGATCGGAGTGAAAT	0.388																																					p.R40W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C118T	2						.						85.0	76.0	78.0					2																	190541334		692	1591	2283	190249579	SO:0001583	missense	150709	exon2			AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.118C>T	2.37:g.190541334C>T	ENSP00000427882:p.Arg40Trp		190249579	NM_144708	Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	C	18.06	3.539814	0.65085	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402	T;T;T	0.53206	0.65;0.65;0.63	5.51	4.63	0.57726	.	.	.	.	.	T	0.62720	0.2451	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.66280	-0.5963	9	0.87932	D	0	.	14.2535	0.66035	0.2689:0.7311:0.0:0.0	.	40	Q7Z5J8	ANKAR_HUMAN	W	40	ENSP00000427882:R40W;ENSP00000313513:R40W;ENSP00000397243:R40W	ENSP00000313513:R40W	R	+	1	2	ANKAR	190249579	0.994000	0.37717	1.000000	0.80357	0.789000	0.44602	1.792000	0.38754	1.296000	0.44742	0.563000	0.77884	CGG		0.388	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708	
MATN3	4148	broad.mit.edu	37	2	20205946	20205946	+	Missense_Mutation	SNP	G	G	A	rs563628955		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:20205946G>A	ENST00000407540.3	-	2	411	c.349C>T	c.(349-351)Cca>Tca	p.P117S	AC079145.4_ENST00000416575.1_RNA|MATN3_ENST00000421259.2_Missense_Mutation_p.P117S	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	117	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.P117S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGTCGGCTGGCCCAATGTCC	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		19340	0.0		0.0	False		,,,				2504	0.001				p.P117S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C349T	2						.						47.0	50.0	49.0					2																	20205946		1985	4154	6139	20069427	SO:0001583	missense	4148	exon2			AJ001047	CCDS46226.1	2p24-p23	2008-06-03			ENSG00000132031	ENSG00000132031			6909	protein-coding gene	gene with protein product		602109				9287130, 9350998	Standard	NM_002381		Approved	EDM5, HOA	uc002rdl.3	O15232	OTTHUMG00000151788	ENST00000407540.3:c.349C>T	2.37:g.20205946G>A	ENSP00000383894:p.Pro117Ser		20069427	NM_002381	B2CPU0|Q4ZG02	Missense_Mutation	SNP	ENST00000407540.3	37	CCDS46226.1	.	.	.	.	.	.	.	.	.	.	G	5.895	0.349245	0.11182	.	.	ENSG00000132031	ENST00000407540;ENST00000421259	D;D	0.84516	-1.86;-1.86	5.84	-0.526	0.11913	von Willebrand factor, type A (3);	0.902297	0.09677	N	0.770230	T	0.80727	0.4678	L	0.48642	1.525	0.09310	N	1	B;B	0.24258	0.1;0.014	B;B	0.25614	0.062;0.032	T	0.65849	-0.6068	10	0.45353	T	0.12	-3.7897	12.7118	0.57094	0.1888:0.3684:0.4428:0.0	.	117;117	B2CPU0;O15232	.;MATN3_HUMAN	S	117	ENSP00000383894:P117S;ENSP00000398753:P117S	ENSP00000383894:P117S	P	-	1	0	MATN3	20069427	0.000000	0.05858	0.002000	0.10522	0.023000	0.10783	-0.040000	0.12104	-0.407000	0.07576	-1.261000	0.01458	CCA		0.522	MATN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323925.1	NM_002381	
STAT1	6772	broad.mit.edu	37	2	191841679	191841679	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:191841679C>T	ENST00000361099.3	-	22	2333	c.1946G>A	c.(1945-1947)cGc>cAc	p.R649H	STAT1_ENST00000392322.3_Missense_Mutation_p.R649H|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Missense_Mutation_p.R649H|STAT1_ENST00000392323.2_Missense_Mutation_p.R651H	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	649	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)	p.R649H(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			TTTGTAATTGCGAATGATGTC	0.403																																					p.R649H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1946A	2						.						117.0	110.0	113.0					2																	191841679		2203	4300	6503	191549924	SO:0001583	missense	6772	exon22				CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.1946G>A	2.37:g.191841679C>T	ENSP00000354394:p.Arg649His		191549924	NM_007315	A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	37	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.850068	0.91277	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323	D;D;D;D	0.96992	-4.2;-4.2;-4.2;-4.2	5.47	5.47	0.80525	SH2 motif (3);	0.046236	0.85682	D	0.000000	D	0.97383	0.9144	L	0.52759	1.655	0.80722	D	1	D;P	0.89917	1.0;0.936	D;P	0.78314	0.991;0.581	D	0.96958	0.9699	10	0.45353	T	0.12	-20.2056	19.5104	0.95139	0.0:1.0:0.0:0.0	.	649;649	P42224-2;P42224	.;STAT1_HUMAN	H	649;649;649;651	ENSP00000354394:R649H;ENSP00000386244:R649H;ENSP00000376136:R649H;ENSP00000376137:R651H	ENSP00000354394:R649H	R	-	2	0	STAT1	191549924	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.870000	0.69620	2.847000	0.97988	0.655000	0.94253	CGC		0.403	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315	
CASP8	841	broad.mit.edu	37	2	202149965	202149965	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:202149965T>C	ENST00000432109.2	+	9	1418	c.1229T>C	c.(1228-1230)gTt>gCt	p.V410A	CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Missense_Mutation_p.V326A|CASP8_ENST00000264275.5_Missense_Mutation_p.V427A|CASP8_ENST00000323492.7_Missense_Mutation_p.V395A|CASP8_ENST00000358485.4_Missense_Mutation_p.V469A	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	410					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.V427A(1)|p.V469A(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AATAACTGTGTTTCCTACCGA	0.498										HNSCC(4;0.00038)																											p.V395A	Melanoma(82;831 1348 20716 36952 40159)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1184C	2						.						78.0	71.0	73.0					2																	202149965		2203	4300	6503	201858210	SO:0001583	missense	841	exon7			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.1229T>C	2.37:g.202149965T>C	ENSP00000412523:p.Val410Ala		201858210	NM_033356	O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	T	19.31	3.803704	0.70682	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	T;T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91;1.91	5.64	5.64	0.86602	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (1);	0.196105	0.44902	D	0.000402	T	0.43875	0.1267	L	0.58583	1.82	0.80722	D	1	D;P;P;P;P	0.89917	1.0;0.825;0.561;0.697;0.916	D;P;P;P;P	0.70935	0.971;0.517;0.804;0.56;0.733	T	0.39921	-0.9590	10	0.72032	D	0.01	.	9.5223	0.39143	0.0:0.0783:0.0:0.9217	.	326;469;410;395;427	Q14790-3;Q14790-9;Q14790;Q14790-2;Q14790-4	.;.;CASP8_HUMAN;.;.	A	395;326;410;427;469;395;189	ENSP00000376091:V395A;ENSP00000264274:V326A;ENSP00000412523:V410A;ENSP00000264275:V427A;ENSP00000351273:V469A;ENSP00000325722:V395A;ENSP00000394434:V189A	ENSP00000264274:V326A	V	+	2	0	CASP8	201858210	0.991000	0.36638	1.000000	0.80357	0.760000	0.43138	2.618000	0.46393	2.145000	0.66743	0.459000	0.35465	GTT		0.498	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228	
TRAK2	66008	broad.mit.edu	37	2	202263063	202263063	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:202263063C>A	ENST00000332624.3	-	6	923	c.495G>T	c.(493-495)caG>caT	p.Q165H	TRAK2_ENST00000430254.1_Missense_Mutation_p.Q165H	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	165	HAP1 N-terminal.				protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)	p.Q165H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						ATAGCTCATGCTGCAGCTGAT	0.348																																					p.Q165H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G495T	2						.						86.0	79.0	82.0					2																	202263063		2203	4300	6503	201971308	SO:0001583	missense	66008	exon6			AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.495G>T	2.37:g.202263063C>A	ENSP00000328875:p.Gln165His		201971308	NM_015049	E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	ENST00000332624.3	37	CCDS2347.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.470941	0.63625	.	.	ENSG00000115993	ENST00000332624;ENST00000542292;ENST00000430254	T;T	0.16897	2.31;2.31	5.45	3.23	0.37069	.	0.000000	0.85682	D	0.000000	T	0.33294	0.0858	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	T	0.01294	-1.1393	10	0.48119	T	0.1	.	13.4846	0.61357	0.0:0.9111:0.0:0.0889	.	165;165	E7EV21;O60296	.;TRAK2_HUMAN	H	165;71;165	ENSP00000328875:Q165H;ENSP00000409333:Q165H	ENSP00000328875:Q165H	Q	-	3	2	TRAK2	201971308	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.409000	0.34680	0.525000	0.28522	0.563000	0.77884	CAG		0.348	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049	
ALS2	57679	broad.mit.edu	37	2	202626428	202626428	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:202626428C>A	ENST00000264276.6	-	4	661	c.289G>T	c.(289-291)Gca>Tca	p.A97S	ALS2_ENST00000467448.1_Missense_Mutation_p.A97S|ALS2_ENST00000496244.1_5'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	97					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.A97S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CTTCCTGTTGCCACAGTAATA	0.507																																					p.A97S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G289T	2						.						123.0	119.0	121.0					2																	202626428		1994	4171	6165	202334673	SO:0001583	missense	57679	exon4			AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.289G>T	2.37:g.202626428C>A	ENSP00000264276:p.Ala97Ser		202334673	NM_001135745	Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.880812	0.91740	.	.	ENSG00000003393	ENST00000264276;ENST00000467448;ENST00000409632;ENST00000410052	T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39	6.07	6.07	0.98685	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.054405	0.64402	D	0.000001	D	0.85965	0.5820	L	0.52266	1.64	0.80722	D	1	P;D;P;P	0.61697	0.875;0.99;0.741;0.919	P;P;B;B	0.57371	0.46;0.819;0.238;0.408	D	0.84677	0.0715	10	0.49607	T	0.09	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	97;97;97;97	Q96Q42-2;Q96Q42-3;Q6IQ41;Q96Q42	.;.;.;ALS2_HUMAN	S	97	ENSP00000264276:A97S;ENSP00000429223:A97S;ENSP00000386384:A97S;ENSP00000386948:A97S	ENSP00000264276:A97S	A	-	1	0	ALS2	202334673	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.900000	0.69853	2.885000	0.99019	0.655000	0.94253	GCA		0.507	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919	
NBEAL1	65065	broad.mit.edu	37	2	204001398	204001398	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:204001398A>G	ENST00000449802.1	+	28	4712	c.4379A>G	c.(4378-4380)gAt>gGt	p.D1460G		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1460								p.D1460G(1)|p.D170G(1)		NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GAAAAGTCTGATGATGATACT	0.343																																					p.D1460G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A4379G	2						.						113.0	107.0	109.0					2																	204001398		1866	4098	5964	203709643	SO:0001583	missense	65065	exon28			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.4379A>G	2.37:g.204001398A>G	ENSP00000399903:p.Asp1460Gly		203709643	NM_001114132	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.530270	0.85706	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.58358	0.34	5.79	5.79	0.91817	.	0.624103	0.17654	N	0.166599	T	0.72510	0.3469	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.74200	-0.3742	10	0.66056	D	0.02	.	15.7837	0.78286	1.0:0.0:0.0:0.0	.	1460;1449	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	G	1460	ENSP00000399903:D1460G	ENSP00000344985:D1460G	D	+	2	0	NBEAL1	203709643	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.100000	0.76989	2.201000	0.70794	0.528000	0.53228	GAT		0.343	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4		
NRP2	8828	broad.mit.edu	37	2	206608133	206608133	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:206608133G>T	ENST00000357785.5	+	9	1529	c.1498G>T	c.(1498-1500)Ggt>Tgt	p.G500C	NRP2_ENST00000357118.4_Missense_Mutation_p.G500C|NRP2_ENST00000412873.2_Missense_Mutation_p.G500C|NRP2_ENST00000540178.1_Missense_Mutation_p.G500C|NRP2_ENST00000355117.4_Missense_Mutation_p.G500C|NRP2_ENST00000360409.3_Missense_Mutation_p.G500C|NRP2_ENST00000417189.1_Missense_Mutation_p.G500C|NRP2_ENST00000540841.1_Missense_Mutation_p.G500C|NRP2_ENST00000272849.3_Missense_Mutation_p.G500C			Q99435	NELL2_HUMAN	neuropilin 2	0	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.G500C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GACAGTGAAAGGTGTCATCAT	0.577																																					p.G500C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1498T	2						.						66.0	69.0	68.0					2																	206608133		2203	4300	6503	206316378	SO:0001583	missense	8828	exon9			AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.1498G>T	2.37:g.206608133G>T	ENSP00000350432:p.Gly500Cys		206316378	NM_201266	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537417	0.65085	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	D;D;D;D;D;D;D;D;D	0.99282	-5.68;-5.68;-5.68;-5.05;-5.05;-5.68;-5.68;-5.68;-5.68	5.96	5.96	0.96718	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.99616	0.9860	M	0.93507	3.425	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.997;0.998;1.0;0.997;0.997;0.997	D	0.98171	1.0452	10	0.87932	D	0	-24.8491	20.3928	0.98949	0.0:0.0:1.0:0.0	.	500;500;500;500;500;500	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	C	500	ENSP00000353582:G500C;ENSP00000439658:G500C;ENSP00000439261:G500C;ENSP00000347238:G500C;ENSP00000387519:G500C;ENSP00000349632:G500C;ENSP00000350432:G500C;ENSP00000407626:G500C;ENSP00000272849:G500C	ENSP00000272849:G500C	G	+	1	0	NRP2	206316378	1.000000	0.71417	0.714000	0.30535	0.023000	0.10783	9.789000	0.99068	2.813000	0.96785	0.655000	0.94253	GGT		0.577	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1		
CRYGB	1419	broad.mit.edu	37	2	209010572	209010572	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:209010572G>A	ENST00000260988.4	-	2	225	c.178C>T	c.(178-180)Cgt>Tgt	p.R60C		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	60	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens fiber cell morphogenesis (GO:0070309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)	p.R60C(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		TACTCCCCACGCCGCAGGAAG	0.607																																					p.R60C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C178T	2						.						45.0	47.0	47.0					2																	209010572		2203	4300	6503	208718817	SO:0001583	missense	1419	exon2				CCDS2380.1	2q34	2013-02-14			ENSG00000182187	ENSG00000182187			2409	protein-coding gene	gene with protein product		123670	"""crystallin, gamma 1-2"""	CRYG2			Standard	NM_005210		Approved		uc002vcp.4	P07316	OTTHUMG00000132941	ENST00000260988.4:c.178C>T	2.37:g.209010572G>A	ENSP00000260988:p.Arg60Cys		208718817	NM_005210	Q17RB5|Q53ST2	Missense_Mutation	SNP	ENST00000260988.4	37	CCDS2380.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.317800	0.40996	.	.	ENSG00000182187	ENST00000260988	T	0.76839	-1.05	4.73	2.76	0.32466	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.424462	0.23758	N	0.044848	T	0.78868	0.4351	M	0.84948	2.725	0.53005	D	0.999967	P	0.49358	0.923	B	0.43413	0.419	T	0.81726	-0.0801	10	0.87932	D	0	.	9.4444	0.38688	0.0:0.1553:0.685:0.1597	.	60	P07316	CRGB_HUMAN	C	60	ENSP00000260988:R60C	ENSP00000260988:R60C	R	-	1	0	CRYGB	208718817	0.000000	0.05858	0.990000	0.47175	0.314000	0.28054	-0.032000	0.12266	1.328000	0.45358	-0.305000	0.09177	CGT		0.607	CRYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256473.2	NM_005210	
C2orf80	389073	broad.mit.edu	37	2	209036793	209036793	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:209036793G>A	ENST00000341287.4	-	7	568	c.373C>T	c.(373-375)Cga>Tga	p.R125*	C2orf80_ENST00000451346.1_Nonsense_Mutation_p.R106*|C2orf80_ENST00000453017.1_Intron	NM_001099334.2	NP_001092804	Q0P641	CB080_HUMAN	chromosome 2 open reading frame 80	125								p.R125*(1)|p.R125R(1)		endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						GATGAAACTCGGGGAACCTGA	0.473																																					p.R125X												.	.	2	Substitution - Nonsense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	c.C373T	2						.						177.0	185.0	183.0					2																	209036793		1952	4155	6107	208745038	SO:0001587	stop_gained	389073	exon7			AC016697, AW136505, BC035737	CCDS42809.1	2q33.3	2013-10-31			ENSG00000188674	ENSG00000188674			34352	protein-coding gene	gene with protein product	"""gonad development associated 1"""	615536				22080834, 24055526	Standard	NM_001099334		Approved	LOC389073, GONDA1	uc002vcr.3	Q0P641	OTTHUMG00000154751	ENST00000341287.4:c.373C>T	2.37:g.209036793G>A	ENSP00000343171:p.Arg125*		208745038	NM_001099334	A6NKZ3	Nonsense_Mutation	SNP	ENST00000341287.4	37	CCDS42809.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.19|13.19	2.164308|2.164308	0.38217|0.38217	.|.	.|.	ENSG00000188674|ENSG00000188674	ENST00000428015|ENST00000451342;ENST00000341287;ENST00000451346;ENST00000423952	T|.	0.27104|.	1.69|.	5.12|5.12	2.28|2.28	0.28536|0.28536	.|.	.|0.338343	.|0.21632	.|N	.|0.071479	T|.	0.13500|.	0.0327|.	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.31613|.	-0.9937|.	6|.	0.10636|0.02654	T|T	0.68|1	-0.2042|-0.2042	9.8784|9.8784	0.41218|0.41218	0.0:0.2853:0.5668:0.148|0.0:0.2853:0.5668:0.148	.|.	.|.	.|.	.|.	L|X	76|50;125;106;38	ENSP00000408378:P76L|.	ENSP00000408378:P76L|ENSP00000343171:R125X	P|R	-|-	2|1	0|2	C2orf80|C2orf80	208745038|208745038	0.056000|0.056000	0.20664|0.20664	0.104000|0.104000	0.21259|0.21259	0.320000|0.320000	0.28249|0.28249	0.300000|0.300000	0.19156|0.19156	0.398000|0.398000	0.25338|0.25338	-0.312000|-0.312000	0.09012|0.09012	CCG|CGA		0.473	C2orf80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336931.1	NM_001099334	
IKZF2	22807	broad.mit.edu	37	2	213921715	213921715	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:213921715G>A	ENST00000434687.1	-	5	557	c.248C>T	c.(247-249)cCc>cTc	p.P83L	IKZF2_ENST00000342002.2_Missense_Mutation_p.P89L|IKZF2_ENST00000374319.4_Missense_Mutation_p.P83L|IKZF2_ENST00000413091.3_Missense_Mutation_p.P83L|IKZF2_ENST00000421754.2_Missense_Mutation_p.P83L|IKZF2_ENST00000457361.1_Missense_Mutation_p.P83L|IKZF2_ENST00000451136.2_Missense_Mutation_p.P83L|IKZF2_ENST00000374327.4_Intron			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	83					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P83L(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CTCAATTAGGGGTTCTTCTAG	0.517																																					p.P83L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C248T	2						.						118.0	108.0	111.0					2																	213921715		2203	4300	6503	213629960	SO:0001583	missense	22807	exon4			AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.248C>T	2.37:g.213921715G>A	ENSP00000412869:p.Pro83Leu		213629960	NM_016260	Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Missense_Mutation	SNP	ENST00000434687.1	37	CCDS2395.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163391	0.38217	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000421754;ENST00000413091;ENST00000433134;ENST00000452786	T;T;T;T;T;T;T;T	0.52526	3.2;3.16;3.2;3.12;3.1;3.21;3.24;0.66	6.02	6.02	0.97574	.	0.000000	0.64402	D	0.000003	T	0.64627	0.2615	L	0.56769	1.78	0.58432	D	0.999998	D;D;B;D	0.89917	1.0;0.977;0.108;0.969	D;P;B;P	0.87578	0.998;0.787;0.055;0.711	T	0.57676	-0.7770	10	0.30078	T	0.28	-6.6031	15.9556	0.79886	0.0:0.134:0.866:0.0	.	83;83;83;83	C9JCG7;C9JTM9;Q9UKS7-2;Q9UKS7	.;.;.;IKZF2_HUMAN	L	83;89;83;83;83;83;83;89;83	ENSP00000410447:P83L;ENSP00000342876:P89L;ENSP00000412869:P83L;ENSP00000363439:P83L;ENSP00000395203:P83L;ENSP00000399574:P83L;ENSP00000402334:P83L;ENSP00000406783:P89L	ENSP00000342876:P89L	P	-	2	0	IKZF2	213629960	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.607000	0.67648	2.857000	0.98124	0.650000	0.86243	CCC		0.517	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260	
FN1	2335	broad.mit.edu	37	2	216235114	216235114	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:216235114G>A	ENST00000359671.1	-	40	6748	c.6483C>T	c.(6481-6483)ggC>ggT	p.G2161G	FN1_ENST00000336916.4_Silent_p.G2130G|FN1_ENST00000443816.1_Silent_p.G2040G|FN1_ENST00000345488.5_Intron|FN1_ENST00000357009.2_Intron|FN1_ENST00000421182.1_Silent_p.G2015G|FN1_ENST00000356005.4_Silent_p.G2071G|FN1_ENST00000323926.6_Silent_p.G2221G|FN1_ENST00000354785.4_Silent_p.G2252G|FN1_ENST00000446046.1_Silent_p.G2105G|FN1_ENST00000357867.4_Silent_p.G1951G|FN1_ENST00000432072.2_Silent_p.G2042G|FN1_ENST00000346544.3_Silent_p.G2041G			P02751	FINC_HUMAN	fibronectin 1	2161	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.G2130G(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CTCTGGTGAGGCCTGTCAGAG	0.512																																					p.G2071G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6213T	2						.						110.0	95.0	100.0					2																	216235114		2203	4300	6503	215943359	SO:0001819	synonymous_variant	2335	exon39				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.6483C>T	2.37:g.216235114G>A			215943359	NM_212476	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	ENST00000359671.1	37																																																																																					0.512	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476	
FN1	2335	broad.mit.edu	37	2	216239966	216239966	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:216239966C>T	ENST00000359671.1	-	37	6120	c.5855G>A	c.(5854-5856)cGc>cAc	p.R1952H	FN1_ENST00000336916.4_Missense_Mutation_p.R1952H|FN1_ENST00000443816.1_Missense_Mutation_p.R1862H|FN1_ENST00000345488.5_Missense_Mutation_p.R1952H|FN1_ENST00000357009.2_Missense_Mutation_p.R1952H|FN1_ENST00000421182.1_Missense_Mutation_p.R1862H|FN1_ENST00000356005.4_Missense_Mutation_p.R1862H|FN1_ENST00000323926.6_Missense_Mutation_p.R2043H|FN1_ENST00000354785.4_Missense_Mutation_p.R2043H|FN1_ENST00000446046.1_Missense_Mutation_p.R1952H|FN1_ENST00000357867.4_Missense_Mutation_p.R1862H|FN1_ENST00000432072.2_Missense_Mutation_p.R1953H|FN1_ENST00000346544.3_Missense_Mutation_p.R1952H			P02751	FINC_HUMAN	fibronectin 1	1952	Binds to FBLN1.|Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Heparin-binding 2.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.R1952H(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GACACCAGGGCGGGGCCGAGG	0.527																																					p.R1862H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5585A	2						.						82.0	87.0	85.0					2																	216239966		2203	4300	6503	215948211	SO:0001583	missense	2335	exon36				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.5855G>A	2.37:g.216239966C>T	ENSP00000352696:p.Arg1952His		215948211	NM_212476	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37		.	.	.	.	.	.	.	.	.	.	C	15.46	2.839862	0.51057	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923;ENST00000438981	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;3.62	5.64	3.86	0.44501	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.316480	0.27986	N	0.017041	T	0.36166	0.0957	N	0.17248	0.465	0.19775	N	0.999954	B;P;B;B;B;B;B;B;B;B;B;B;B	0.37441	0.205;0.595;0.005;0.003;0.008;0.052;0.029;0.0;0.064;0.052;0.052;0.009;0.011	B;B;B;B;B;B;B;B;B;B;B;B;B	0.38562	0.03;0.276;0.002;0.001;0.005;0.013;0.01;0.001;0.022;0.013;0.013;0.007;0.005	T	0.16453	-1.0402	10	0.44086	T	0.13	.	9.4706	0.38839	0.0:0.7861:0.0:0.2139	.	1743;1952;1953;2043;1862;1862;1952;1952;1953;1862;1862;2043;1952	Q68CX6;F8W7G7;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;.;.;.;FINC_HUMAN	H	1862;2043;1952;1862;2043;1953;1952;1952;1952;1952;1952;1862;1953;1862;669;71	ENSP00000394423:R1862H;ENSP00000323534:R2043H;ENSP00000338200:R1952H;ENSP00000350534:R1862H;ENSP00000346839:R2043H;ENSP00000352696:R1952H;ENSP00000265312:R1952H;ENSP00000273049:R1952H;ENSP00000349509:R1952H;ENSP00000410422:R1952H;ENSP00000415018:R1862H;ENSP00000399538:R1953H;ENSP00000348285:R1862H;ENSP00000416139:R669H;ENSP00000392565:R71H	ENSP00000265313:R1953H	R	-	2	0	FN1	215948211	0.979000	0.34478	0.972000	0.41901	0.996000	0.88848	1.468000	0.35332	0.745000	0.32763	0.563000	0.77884	CGC		0.527	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476	
FN1	2335	broad.mit.edu	37	2	216243985	216243985	+	Silent	SNP	G	G	A	rs376598003		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:216243985G>A	ENST00000359671.1	-	33	5482	c.5217C>T	c.(5215-5217)agC>agT	p.S1739S	FN1_ENST00000490833.1_5'UTR|FN1_ENST00000336916.4_Silent_p.S1739S|FN1_ENST00000443816.1_Silent_p.S1649S|FN1_ENST00000345488.5_Silent_p.S1739S|FN1_ENST00000357009.2_Silent_p.S1739S|FN1_ENST00000421182.1_Silent_p.S1649S|FN1_ENST00000356005.4_Silent_p.S1649S|FN1_ENST00000323926.6_Silent_p.S1830S|FN1_ENST00000354785.4_Silent_p.S1830S|FN1_ENST00000446046.1_Silent_p.S1739S|FN1_ENST00000357867.4_Silent_p.S1649S|FN1_ENST00000432072.2_Silent_p.S1740S|FN1_ENST00000346544.3_Silent_p.S1739S			P02751	FINC_HUMAN	fibronectin 1	1739	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Heparin-binding 2.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.S1739S(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TCCACTGGGCGCTCAGGCTTG	0.512																																					p.S1649S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4947T	2						.	G	,,,,	1,4405	2.1+/-5.4	0,1,2202	113.0	108.0	110.0		5217,4947,4947,5217,5490	-9.3	0.2	2		110	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FN1	NM_002026.2,NM_212474.1,NM_212476.1,NM_212478.1,NM_212482.1	,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,	1739/2356,1649/2177,1649/2297,1739/2331,1830/2478	216243985	1,13005	2203	4300	6503	215952230	SO:0001819	synonymous_variant	2335	exon32				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.5217C>T	2.37:g.216243985G>A			215952230	NM_212476	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	ENST00000359671.1	37																																																																																					0.512	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476	
TNS1	7145	broad.mit.edu	37	2	218683269	218683269	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:218683269C>T	ENST00000171887.4	-	24	3926	c.3474G>A	c.(3472-3474)ccG>ccA	p.P1158P	TNS1_ENST00000430930.1_Silent_p.P1137P|TNS1_ENST00000419504.1_Silent_p.P1145P	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1158	Ser-rich.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)	p.P1158P(2)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CCTGGCTTTCCGGAGAGGAGC	0.612																																					p.P1158P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G3474A	2						.						55.0	59.0	58.0					2																	218683269		2203	4300	6503	218391514	SO:0001819	synonymous_variant	7145	exon24			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.3474G>A	2.37:g.218683269C>T			218391514	NM_022648	Q4ZG71|Q6IPI5	Silent	SNP	ENST00000171887.4	37	CCDS2407.1																																																																																				0.612	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648	
TNS1	7145	broad.mit.edu	37	2	218713210	218713210	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:218713210G>A	ENST00000171887.4	-	17	2107	c.1655C>T	c.(1654-1656)cCt>cTt	p.P552L	TNS1_ENST00000480665.1_5'UTR|TNS1_ENST00000430930.1_Missense_Mutation_p.P552L|TNS1_ENST00000419504.1_Missense_Mutation_p.P552L	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	552					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)	p.P552L(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		ATTGACCATAGGCTCCATGGG	0.657																																					p.P552L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1655T	2						.						45.0	52.0	50.0					2																	218713210		2203	4299	6502	218421455	SO:0001583	missense	7145	exon17			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1655C>T	2.37:g.218713210G>A	ENSP00000171887:p.Pro552Leu		218421455	NM_022648	Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.301655	0.40694	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903	D;D;D;D	0.94897	-3.0;-3.0;-3.0;-3.55	4.79	3.89	0.44902	.	0.578149	0.16635	N	0.205897	D	0.94135	0.8119	L	0.44542	1.39	0.45502	D	0.998462	B;D;B;P;P	0.69078	0.039;0.997;0.205;0.953;0.919	B;P;B;B;B	0.58210	0.016;0.835;0.052;0.335;0.253	D	0.91024	0.4859	10	0.12103	T	0.63	.	14.9585	0.71138	0.0:0.1435:0.8565:0.0	.	552;606;552;552;552	B2RU35;A1L0S7;Q9HBL0;E9PGF5;E9PF55	.;.;TENS1_HUMAN;.;.	L	552;552;552;677	ENSP00000171887:P552L;ENSP00000408724:P552L;ENSP00000406016:P552L;ENSP00000405460:P677L	ENSP00000171887:P552L	P	-	2	0	TNS1	218421455	0.183000	0.23186	0.306000	0.25113	0.933000	0.57130	1.500000	0.35682	1.193000	0.43086	0.561000	0.74099	CCT		0.657	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648	
TTLL4	9654	broad.mit.edu	37	2	219603802	219603802	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:219603802G>A	ENST00000392102.1	+	3	1743	c.1403G>A	c.(1402-1404)cGc>cAc	p.R468H	TTLL4_ENST00000457313.1_Missense_Mutation_p.R303H|TTLL4_ENST00000442769.1_Missense_Mutation_p.R468H|TTLL4_ENST00000258398.4_Missense_Mutation_p.R468H	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	468					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)	p.R468H(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GTGGCCACCCGCCTCTCTTCC	0.532																																					p.R468H	GBM(172;1818 2053 15407 20943 49753)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1403A	2						.						47.0	49.0	48.0					2																	219603802		2203	4299	6502	219312046	SO:0001583	missense	9654	exon3				CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.1403G>A	2.37:g.219603802G>A	ENSP00000375951:p.Arg468His		219312046	NM_014640	A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	CCDS2422.1	.	.	.	.	.	.	.	.	.	.	G	8.351	0.830869	0.16820	.	.	ENSG00000135912	ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398	T;T;T;T	0.05382	3.68;3.89;3.45;3.89	4.67	-0.845	0.10737	.	2.277970	0.01694	N	0.026803	T	0.07143	0.0181	L	0.34521	1.04	0.09310	N	1	B;B;B	0.16166	0.016;0.004;0.009	B;B;B	0.06405	0.002;0.002;0.002	T	0.42050	-0.9474	10	0.48119	T	0.1	.	9.5462	0.39282	0.6821:0.0:0.3179:0.0	.	303;468;468	E9PH58;E7EX20;Q14679	.;.;TTLL4_HUMAN	H	303;468;468;468	ENSP00000393332:R303H;ENSP00000375951:R468H;ENSP00000396555:R468H;ENSP00000258398:R468H	ENSP00000258398:R468H	R	+	2	0	TTLL4	219312046	0.000000	0.05858	0.187000	0.23214	0.642000	0.38348	0.045000	0.14013	-0.390000	0.07774	-0.367000	0.07326	CGC		0.532	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640	
TTLL4	9654	broad.mit.edu	37	2	219617567	219617567	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:219617567C>T	ENST00000392102.1	+	17	3398	c.3058C>T	c.(3058-3060)Cgt>Tgt	p.R1020C	TTLL4_ENST00000457313.1_Missense_Mutation_p.R855C|TTLL4_ENST00000442769.1_Missense_Mutation_p.R956C|TTLL4_ENST00000258398.4_Missense_Mutation_p.R1020C	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	1020					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)	p.R1020C(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GTTTTCTCGCCGTGGTCAGTT	0.468																																					p.R1020C	GBM(172;1818 2053 15407 20943 49753)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3058T	2						.						263.0	238.0	247.0					2																	219617567		2203	4300	6503	219325811	SO:0001583	missense	9654	exon17				CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.3058C>T	2.37:g.219617567C>T	ENSP00000375951:p.Arg1020Cys		219325811	NM_014640	A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	CCDS2422.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.65|13.65	2.299913|2.299913	0.40694|0.40694	.|.	.|.	ENSG00000135912|ENSG00000135912	ENST00000436668|ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398	.|T;T;T;T	.|0.04862	.|3.64;3.89;3.54;3.89	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	.|0.256644	.|0.36519	.|N	.|0.002554	T|T	0.05547|0.05547	0.0146|0.0146	L|L	0.43152|0.43152	1.355|1.355	0.53688|0.53688	D|D	0.999971|0.999971	.|B;P;P;B	.|0.36378	.|0.023;0.55;0.502;0.367	.|B;B;B;B	.|0.26693	.|0.005;0.072;0.049;0.03	T|T	0.43360|0.43360	-0.9396|-0.9396	5|10	.|0.27785	.|T	.|0.31	.|.	11.2892|11.2892	0.49239|0.49239	0.0:0.9181:0.0:0.0819|0.0:0.9181:0.0:0.0819	.|.	.|223;855;956;1020	.|B4DJF5;E9PH58;E7EX20;Q14679	.|.;.;.;TTLL4_HUMAN	L|C	164|855;1020;956;1020	.|ENSP00000393332:R855C;ENSP00000375951:R1020C;ENSP00000396555:R956C;ENSP00000258398:R1020C	.|ENSP00000258398:R1020C	P|R	+|+	2|1	0|0	TTLL4|TTLL4	219325811|219325811	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.195000|1.195000	0.32186|0.32186	2.683000|2.683000	0.91414|0.91414	0.655000|0.655000	0.94253|0.94253	CCG|CGT		0.468	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640	
PRKAG3	53632	broad.mit.edu	37	2	219694797	219694797	+	Silent	SNP	G	G	T	rs141838287	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:219694797G>T	ENST00000529249.1	-	4	852	c.537C>A	c.(535-537)ccC>ccA	p.P179P	PRKAG3_ENST00000392098.3_Silent_p.P179P|PRKAG3_ENST00000545803.1_5'UTR|PRKAG3_ENST00000439262.2_Silent_p.P154P			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	179					cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)	AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|protein kinase binding (GO:0019901)	p.P179P(2)		large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Acetylsalicylic acid(DB00945)	TCTGGGCGCCGGGTTTCCGCA	0.597																																					p.P179P												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.C537A	2						.						90.0	88.0	89.0					2																	219694797		2203	4300	6503	219403041	SO:0001819	synonymous_variant	53632	exon4			AF214519	CCDS2424.1	2q35	2012-09-20			ENSG00000115592	ENSG00000115592			9387	protein-coding gene	gene with protein product		604976				10818001	Standard	NM_017431		Approved		uc002vjb.1	Q9UGI9	OTTHUMG00000133078	ENST00000529249.1:c.537C>A	2.37:g.219694797G>T			219403041	NM_017431	Q4QQG8|Q4V779|Q9NRL1	Silent	SNP	ENST00000529249.1	37	CCDS2424.1																																																																																				0.597	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385992.1		
EPHA4	2043	broad.mit.edu	37	2	222347320	222347320	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:222347320C>T	ENST00000281821.2	-	5	1111	c.1070G>A	c.(1069-1071)cGc>cAc	p.R357H	EPHA4_ENST00000409938.1_Missense_Mutation_p.R357H|EPHA4_ENST00000392071.4_Missense_Mutation_p.R306H|EPHA4_ENST00000409854.1_Missense_Mutation_p.R357H	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	357	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)	p.R357H(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		AATGTCCTGGCGGCCACCTGT	0.522																																					p.R357H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1070A	2						.						142.0	155.0	151.0					2																	222347320		2203	4300	6503	222055564	SO:0001583	missense	2043	exon5			L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.1070G>A	2.37:g.222347320C>T	ENSP00000281821:p.Arg357His		222055564	NM_004438	A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	CCDS2447.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.610380|5.610380	0.96637|0.96637	.|.	.|.	ENSG00000116106|ENSG00000116106	ENST00000441679|ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071;ENST00000443796	.|T;T;T;T;T	.|0.58506	.|0.33;0.33;0.33;0.33;0.33	6.06|6.06	6.06|6.06	0.98353|0.98353	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.82226|0.82226	0.4991|0.4991	M|M	0.90650|0.90650	3.135|3.135	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.84334|0.84334	0.0523|0.0523	5|10	.|0.87932	.|D	.|0	.|.	20.6208|20.6208	0.99490|0.99490	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|357	.|P54764	.|EPHA4_HUMAN	T|H	94|357;357;357;306;61	.|ENSP00000281821:R357H;ENSP00000386276:R357H;ENSP00000386829:R357H;ENSP00000375923:R306H;ENSP00000395917:R61H	.|ENSP00000281821:R357H	A|R	-|-	1|2	0|0	EPHA4|EPHA4	222055564|222055564	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.818000|7.818000	0.86416|0.86416	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.522	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3		
SH3YL1	26751	broad.mit.edu	37	2	234178	234178	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:234178G>A	ENST00000405430.1	-	7	762	c.386C>T	c.(385-387)gCg>gTg	p.A129V	SH3YL1_ENST00000403657.1_Missense_Mutation_p.A33V|SH3YL1_ENST00000403658.1_Missense_Mutation_p.A33V|SH3YL1_ENST00000356150.5_Missense_Mutation_p.A129V|SH3YL1_ENST00000468321.1_5'UTR|SH3YL1_ENST00000415006.2_Missense_Mutation_p.A33V|SH3YL1_ENST00000403712.2_Missense_Mutation_p.A129V			Q96HL8	SH3Y1_HUMAN	SH3 and SYLF domain containing 1	129					phosphatidylinositol biosynthetic process (GO:0006661)|regulation of ruffle assembly (GO:1900027)	ruffle membrane (GO:0032587)	phosphatase binding (GO:0019902)|phosphatidylinositol binding (GO:0035091)	p.A33V(1)		large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.034)		all cancers(51;0.000647)|Epithelial(75;0.0043)|OV - Ovarian serous cystadenocarcinoma(76;0.00871)|GBM - Glioblastoma multiforme(21;0.148)		GGGCCCAACCGCCACAGTCAA	0.393																																					p.A129V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C386T	2						.						114.0	115.0	114.0					2																	234178		1840	4089	5929	224178	SO:0001583	missense	26751	exon5				CCDS42646.1, CCDS42646.2, CCDS54332.1, CCDS62841.1	2p25.3	2013-10-18	2013-10-18		ENSG00000035115	ENSG00000035115			29546	protein-coding gene	gene with protein product			"""SH3 domain containing, Ysc84-like 1 (S. cerevisiae)"""			21624956	Standard	NM_001282687		Approved	Ray, DKFZP586F1318	uc002qvx.3	Q96HL8	OTTHUMG00000151359	ENST00000405430.1:c.386C>T	2.37:g.234178G>A	ENSP00000384269:p.Ala129Val		224178	NM_015677	A8K8E7|B7WNJ4|B7WPL6|Q8NEL2|Q9H5X4|Q9Y3V5	Missense_Mutation	SNP	ENST00000405430.1	37		.	.	.	.	.	.	.	.	.	.	G	18.26	3.584331	0.65992	.	.	ENSG00000035115	ENST00000415006;ENST00000403712;ENST00000403657;ENST00000405430;ENST00000356150;ENST00000403658;ENST00000451005;ENST00000431160;ENST00000454318	T;T;T;T;T;T;T	0.28069	1.74;1.82;1.76;1.65;1.65;1.76;1.63	5.92	5.92	0.95590	Ysc84 actin-binding domain (1);	0.181166	0.48286	D	0.000197	T	0.55016	0.1894	M	0.68317	2.08	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;0.961;0.969;1.0	P;B;P;D	0.87578	0.858;0.418;0.481;0.998	T	0.54912	-0.8222	10	0.87932	D	0	-29.9344	15.809	0.78543	0.0:0.0:1.0:0.0	.	33;129;129;33	Q96HL8-4;Q96HL8-2;Q96HL8;Q96HL8-3	.;.;SH3Y1_HUMAN;.	V	33;129;33;129;129;33;104;128;33	ENSP00000404143:A33V;ENSP00000384276:A129V;ENSP00000385668:A33V;ENSP00000384269:A129V;ENSP00000348471:A129V;ENSP00000383928:A33V;ENSP00000416312:A104V	ENSP00000348471:A129V	A	-	2	0	SH3YL1	224178	1.000000	0.71417	0.969000	0.41365	0.058000	0.15608	9.215000	0.95146	2.804000	0.96469	0.557000	0.71058	GCG		0.393	SH3YL1-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322352.1	NM_015677	
PAX3	5077	broad.mit.edu	37	2	223066853	223066853	+	Silent	SNP	G	G	A	rs147111779		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:223066853G>A	ENST00000350526.4	-	8	1366	c.1230C>T	c.(1228-1230)taC>taT	p.Y410Y	PAX3_ENST00000409551.3_Silent_p.Y409Y|PAX3_ENST00000336840.6_Intron|PAX3_ENST00000392069.2_Silent_p.Y410Y|PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000392070.2_Silent_p.Y410Y|PAX3_ENST00000344493.4_Intron	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	410					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y410Y(2)	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGAGAGCGCGTAATCAGTCT	0.542			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																														p.Y409Y			Dom	yes		2	2q35	5077	paired box gene 3	yes	M	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1227T	2						.	G	,,,,,	0,4406		0,0,2203	69.0	67.0	68.0		1227,1230,1230,1230,,	-11.6	0.0	2	dbSNP_134	68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron,intron	PAX3	NM_001127366.2,NM_181457.3,NM_181458.3,NM_181459.3,NM_181460.3,NM_181461.3	,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,	409/484,410/480,410/485,410/506,,	223066853	1,13005	2203	4300	6503	222775097	SO:0001819	synonymous_variant	5077	exon8				CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.1230C>T	2.37:g.223066853G>A			222775097	NM_001127366	G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Silent	SNP	ENST00000350526.4	37	CCDS42826.1																																																																																				0.542	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1		
WDFY1	57590	broad.mit.edu	37	2	224760297	224760297	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:224760297C>T	ENST00000233055.4	-	7	751	c.649G>A	c.(649-651)Gga>Aga	p.G217R		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	217						cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|zinc ion binding (GO:0008270)	p.G217R(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		TCAGATGCTCCTGAGAAGAGT	0.552																																					p.G217R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G649A	2						.						101.0	87.0	92.0					2																	224760297		2203	4300	6503	224468541	SO:0001583	missense	57590	exon7			AB037856	CCDS33387.1	2q36.2	2013-01-09	2003-03-13		ENSG00000085449	ENSG00000085449		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20451	protein-coding gene	gene with protein product			"""WD40 and FYVE domain containing 1"""			11739631	Standard	NM_020830		Approved	KIAA1435, FENS-1, WDF1, ZFYVE17	uc002vnq.3	Q8IWB7	OTTHUMG00000153370	ENST00000233055.4:c.649G>A	2.37:g.224760297C>T	ENSP00000233055:p.Gly217Arg		224468541	NM_020830	Q53S17|Q9H9D5|Q9P2B3	Missense_Mutation	SNP	ENST00000233055.4	37	CCDS33387.1	.	.	.	.	.	.	.	.	.	.	C	32	5.183997	0.94885	.	.	ENSG00000085449	ENST00000233055;ENST00000429915	T;T	0.72051	-0.62;-0.62	5.58	5.58	0.84498	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.90198	0.6936	H	0.96748	3.875	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93077	0.6488	10	0.87932	D	0	-13.4219	19.575	0.95439	0.0:1.0:0.0:0.0	.	217	Q8IWB7	WDFY1_HUMAN	R	217;174	ENSP00000233055:G217R;ENSP00000395416:G174R	ENSP00000233055:G217R	G	-	1	0	WDFY1	224468541	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.314000	0.78988	2.630000	0.89119	0.491000	0.48974	GGA		0.552	WDFY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330908.1	NM_020830	
MRPL44	65080	broad.mit.edu	37	2	224822227	224822227	+	Missense_Mutation	SNP	A	A	G	rs534596036		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:224822227A>G	ENST00000258383.3	+	1	107	c.38A>G	c.(37-39)cAt>cGt	p.H13R		NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	13					mitochondrial translational elongation (GO:0070125)|RNA processing (GO:0006396)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)	p.H13R(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		CAGCAGGGACATCGCTGCCTC	0.607													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15563	0.0		0.0	False		,,,				2504	0.0				p.H13R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A38G	2						.						59.0	57.0	57.0					2																	224822227		2203	4300	6503	224530471	SO:0001583	missense	65080	exon1			AK022763	CCDS2459.1	2p24.3-p24.1	2012-09-13			ENSG00000135900	ENSG00000135900		"""Mitochondrial ribosomal proteins / large subunits"""	16650	protein-coding gene	gene with protein product	"""39S ribosomal protein L44, mitochondrial"""	611849					Standard	NM_022915		Approved	FLJ12701, FLJ13990	uc002vnr.4	Q9H9J2	OTTHUMG00000133164	ENST00000258383.3:c.38A>G	2.37:g.224822227A>G	ENSP00000258383:p.His13Arg		224530471	NM_022915	Q53S16|Q6IA62|Q9H821	Missense_Mutation	SNP	ENST00000258383.3	37	CCDS2459.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.534648	0.45073	.	.	ENSG00000135900	ENST00000258383	T	0.39787	1.06	5.21	3.35	0.38373	.	0.276497	0.35466	N	0.003181	T	0.19725	0.0474	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11991	-1.0565	10	0.54805	T	0.06	.	4.2781	0.10818	0.1617:0.5962:0.1562:0.0859	.	13	Q9H9J2	RM44_HUMAN	R	13	ENSP00000258383:H13R	ENSP00000258383:H13R	H	+	2	0	MRPL44	224530471	0.013000	0.17824	0.285000	0.24819	0.024000	0.10985	1.243000	0.32767	0.769000	0.33313	-0.215000	0.12644	CAT		0.607	MRPL44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256866.2	NM_022915	
COL4A4	1286	broad.mit.edu	37	2	227915822	227915822	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:227915822G>A	ENST00000396625.3	-	33	3228	c.3021C>T	c.(3019-3021)taC>taT	p.Y1007Y	COL4A4_ENST00000329662.7_Silent_p.Y1007Y	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1007	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.Y1007Y(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CAGGTGGTCCGTATCTTCCCG	0.547																																					p.Y1007Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3021T	2						.						113.0	111.0	112.0					2																	227915822		1897	4116	6013	227624066	SO:0001819	synonymous_variant	1286	exon33				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.3021C>T	2.37:g.227915822G>A			227624066	NM_000092	A8MTZ1|Q53RW9|Q53S42|Q53WR1	Silent	SNP	ENST00000396625.3	37	CCDS42828.1																																																																																				0.547	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092	
COL4A4	1286	broad.mit.edu	37	2	227927271	227927271	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:227927271G>A	ENST00000396625.3	-	26	2238	c.2031C>T	c.(2029-2031)ggC>ggT	p.G677G	COL4A4_ENST00000329662.7_Silent_p.G677G	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	677	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.G677G(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AACCTGGAGGGCCATGCCTCC	0.428																																					p.G677G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2031T	2						.						61.0	60.0	60.0					2																	227927271		1855	4094	5949	227635515	SO:0001819	synonymous_variant	1286	exon26				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.2031C>T	2.37:g.227927271G>A			227635515	NM_000092	A8MTZ1|Q53RW9|Q53S42|Q53WR1	Silent	SNP	ENST00000396625.3	37	CCDS42828.1																																																																																				0.428	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092	
COL4A4	1286	broad.mit.edu	37	2	227967510	227967510	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:227967510G>A	ENST00000396625.3	-	15	1132	c.925C>T	c.(925-927)Cct>Tct	p.P309S	COL4A4_ENST00000329662.7_Missense_Mutation_p.P309S	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	309	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.P309S(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CTTACCCGAGGCCCTGGAAAT	0.393																																					p.P309S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C925T	2						.						151.0	143.0	145.0					2																	227967510		1862	4098	5960	227675754	SO:0001583	missense	1286	exon15				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.925C>T	2.37:g.227967510G>A	ENSP00000379866:p.Pro309Ser		227675754	NM_000092	A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.913644	0.33815	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.96802	-4.13;-4.13	5.55	5.55	0.83447	.	.	.	.	.	D	0.96589	0.8887	L	0.50847	1.595	0.27949	N	0.937203	D	0.63046	0.992	D	0.63283	0.913	D	0.92069	0.5663	9	0.29301	T	0.29	.	12.0468	0.53485	0.0:0.0:0.828:0.172	.	309	P53420	CO4A4_HUMAN	S	309	ENSP00000379866:P309S;ENSP00000328553:P309S	ENSP00000328553:P309S	P	-	1	0	COL4A4	227675754	1.000000	0.71417	1.000000	0.80357	0.521000	0.34408	1.759000	0.38420	2.620000	0.88729	0.591000	0.81541	CCT		0.393	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092	
SPHKAP	80309	broad.mit.edu	37	2	228882497	228882497	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:228882497A>T	ENST00000392056.3	-	7	3119	c.3073T>A	c.(3073-3075)Tcc>Acc	p.S1025T	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S1025T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1025						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.S1025T(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGGTTCATGGACTCATCCACA	0.488																																					p.S1025T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T3073A	2						.						103.0	90.0	95.0					2																	228882497		2203	4300	6503	228590741	SO:0001583	missense	80309	exon7				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3073T>A	2.37:g.228882497A>T	ENSP00000375909:p.Ser1025Thr		228590741	NM_001142644	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	A	18.70	3.679383	0.68042	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.20598	2.08;2.06	6.08	6.08	0.98989	.	0.049858	0.85682	D	0.000000	T	0.29556	0.0737	N	0.19112	0.55	0.49798	D	0.999829	D;P;D	0.57571	0.966;0.911;0.98	P;P;P	0.61201	0.571;0.609;0.885	T	0.03630	-1.1018	10	0.42905	T	0.14	.	15.825	0.78698	1.0:0.0:0.0:0.0	.	56;1025;1025	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	T	1025	ENSP00000375909:S1025T;ENSP00000339886:S1025T	ENSP00000339886:S1025T	S	-	1	0	SPHKAP	228590741	1.000000	0.71417	0.997000	0.53966	0.872000	0.50106	4.273000	0.58914	2.333000	0.79357	0.533000	0.62120	TCC		0.488	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623	
SP140	11262	broad.mit.edu	37	2	231152656	231152656	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:231152656T>C	ENST00000392045.3	+	18	1809	c.1695T>C	c.(1693-1695)gcT>gcC	p.A565A	SP140_ENST00000486687.2_Silent_p.A489A|SP140_ENST00000420434.3_Silent_p.A538A|SP140_ENST00000417495.3_Silent_p.A451A|SP140_ENST00000343805.6_Silent_p.A505A|SP140_ENST00000350136.5_Silent_p.A434A	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	565					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.A565A(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GTGACAGAGCTGCACAGAAAA	0.393																																					p.A565A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1695C	2						.						57.0	56.0	57.0					2																	231152656		1825	4082	5907	230860900	SO:0001819	synonymous_variant	11262	exon18			U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.1695T>C	2.37:g.231152656T>C			230860900	NM_007237	E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Silent	SNP	ENST00000392045.3	37	CCDS42831.1																																																																																				0.393	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237	
DGKD	8527	broad.mit.edu	37	2	234359623	234359623	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:234359623T>C	ENST00000264057.2	+	17	2106	c.2094T>C	c.(2092-2094)agT>agC	p.S698S	DGKD_ENST00000409813.3_Silent_p.S654S	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	698					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.S698S(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	CCCTAGGCAGTTCTGCTTCCC	0.567																																					p.S698S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2094C	2						.						133.0	122.0	126.0					2																	234359623		2203	4300	6503	234024362	SO:0001819	synonymous_variant	8527	exon17			D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.2094T>C	2.37:g.234359623T>C			234024362	NM_152879	Q14158|Q6PK55|Q8NG53	Silent	SNP	ENST00000264057.2	37	CCDS2504.1																																																																																				0.567	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648	
UGT1A6	54578	broad.mit.edu	37	2	234676935	234676935	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:234676935G>A	ENST00000305139.6	+	4	1290	c.1151G>A	c.(1150-1152)gGc>gAc	p.G384D	UGT1A8_ENST00000305208.5_Missense_Mutation_p.G385D|UGT1A5_ENST00000373414.3_Missense_Mutation_p.G386D|UGT1A10_ENST00000344644.5_Missense_Mutation_p.G382D|UGT1A4_ENST00000373409.3_Missense_Mutation_p.G386D|UGT1A1_ENST00000608381.1_Missense_Mutation_p.G386D|UGT1A1_ENST00000608383.1_Missense_Mutation_p.G385D|UGT1A1_ENST00000609767.1_Missense_Mutation_p.G386D|UGT1A9_ENST00000354728.4_Missense_Mutation_p.G382D|UGT1A1_ENST00000360418.3_Missense_Mutation_p.G385D|UGT1A1_ENST00000609637.1_Missense_Mutation_p.G382D|UGT1A1_ENST00000373450.4_Missense_Mutation_p.G382D|UGT1A6_ENST00000373424.1_Missense_Mutation_p.G117D|UGT1A7_ENST00000373426.3_Missense_Mutation_p.G382D|UGT1A3_ENST00000482026.1_Missense_Mutation_p.G386D|UGT1A10_ENST00000373445.1_Missense_Mutation_p.G382D|UGT1A6_ENST00000406651.1_Missense_Mutation_p.G117D	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	384					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.G382D(4)|p.G386D(3)|p.G385D(1)|p.G384D(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	ATATGCAATGGCGTTCCCATG	0.498																																					p.G384D												.	.	9	Substitution - Missense(9)	large_intestine(9)	c.G1151A	2						.						225.0	199.0	208.0					2																	234676935		2203	4300	6503	234341674	SO:0001583	missense	54579	exon4			M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.1151G>A	2.37:g.234676935G>A	ENSP00000303174:p.Gly384Asp		234341674	NM_001072	A6NKK6|B8K289|Q96TE7	Missense_Mutation	SNP	ENST00000305139.6	37	CCDS2507.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.687158	0.68157	.	.	ENSG00000242366;ENSG00000242515;ENSG00000242515;ENSG00000241119;ENSG00000244122;ENSG00000167165;ENSG00000167165;ENSG00000167165;ENSG00000240224;ENSG00000244474;ENSG00000243135;ENSG00000241635;ENSG00000241635	ENST00000373450;ENST00000344644;ENST00000373445;ENST00000354728;ENST00000373426;ENST00000373424;ENST00000305139;ENST00000406651;ENST00000373414;ENST00000373409;ENST00000482026;ENST00000305208;ENST00000360418	D;D;D;D;D;D;D;D;D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52	5.88	5.0	0.66597	.	0.243209	0.40302	N	0.001131	D	0.93003	0.7773	H	0.95950	3.745	0.37264	D	0.90713	D;D;D;D;D;D;D;D;D;D;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;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.997;0.982;0.988;0.989;0.999;1.0;1.0;1.0;0.997;0.982;0.97;0.989;0.998;1.0;1.0;1.0;1.0;1.0	D	0.96661	0.9489	10	0.87932	D	0	.	16.181	0.81898	0.0:0.3753:0.6247:0.0	.	385;386;386;386;384;382;382;382;385;386;386;386;384;382;382;382;382;382	A6NJC3;Q5DT01;B8K288;Q5DSZ9;B8K289;Q5DSZ7;Q5DSZ5;Q5DSZ6;P22309;P35503;P22310;P35504;P19224;Q9HAW7;O60656;Q9HAW8;Q7Z6H8;Q9HAW9	.;.;.;.;.;.;.;.;UD11_HUMAN;UD13_HUMAN;UD14_HUMAN;UD15_HUMAN;UD16_HUMAN;UD17_HUMAN;UD19_HUMAN;UD110_HUMAN;.;UD18_HUMAN	D	382;382;382;382;382;117;384;117;386;386;386;385;385	ENSP00000362549:G382D;ENSP00000343838:G382D;ENSP00000362544:G382D;ENSP00000346768:G382D;ENSP00000362525:G382D;ENSP00000362523:G117D;ENSP00000303174:G384D;ENSP00000386107:G117D;ENSP00000362513:G386D;ENSP00000362508:G386D;ENSP00000418532:G386D;ENSP00000304845:G385D;ENSP00000353593:G385D	ENSP00000343838:G382D	G	+	2	0	UGT1A7;UGT1A6;UGT1A10;UGT1A9;UGT1A8;UGT1A3;UGT1A5;UGT1A4;UGT1A1	234341674	1.000000	0.71417	0.397000	0.26308	0.965000	0.64279	4.273000	0.58914	1.465000	0.48006	-0.176000	0.13171	GGC		0.498	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1	NM_205862	
SH3BP4	23677	broad.mit.edu	37	2	235951132	235951132	+	Silent	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:235951132C>A	ENST00000409212.1	+	4	2226	c.1719C>A	c.(1717-1719)atC>atA	p.I573I	SH3BP4_ENST00000344528.4_Silent_p.I573I|SH3BP4_ENST00000392011.2_Silent_p.I573I			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	573					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)	p.I573I(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GCCGCCTGATCTTCCCCATCA	0.562																																					p.I573I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1719A	2						.						76.0	84.0	81.0					2																	235951132		2203	4300	6503	235615871	SO:0001819	synonymous_variant	23677	exon4			AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.1719C>A	2.37:g.235951132C>A			235615871	NM_014521	O95082|Q309A3|Q53QD0|Q53TD1	Silent	SNP	ENST00000409212.1	37	CCDS2513.1																																																																																				0.562	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1		
AGAP1	116987	broad.mit.edu	37	2	236706504	236706504	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:236706504C>A	ENST00000304032.8	+	7	1355	c.775C>A	c.(775-777)Cag>Aag	p.Q259K	AGAP1_ENST00000409538.1_Missense_Mutation_p.Q524K|AGAP1_ENST00000409457.1_Missense_Mutation_p.Q259K|AGAP1_ENST00000336665.5_Missense_Mutation_p.Q259K|AGAP1_ENST00000428334.2_Missense_Mutation_p.Q98K	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	259	Small GTPase-like.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)	p.Q259K(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CTGTTCCGCGCAGGTGTCTGC	0.512																																					p.Q259K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C775A	2						.						180.0	176.0	177.0					2																	236706504		2203	4300	6503	236371243	SO:0001583	missense	116987	exon7			AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.775C>A	2.37:g.236706504C>A	ENSP00000307634:p.Gln259Lys		236371243	NM_001037131	B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	ENST00000304032.8	37	CCDS33408.1	.	.	.	.	.	.	.	.	.	.	C	8.205	0.799114	0.16397	.	.	ENSG00000157985	ENST00000409457;ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	5.29	5.29	0.74685	.	0.064498	0.64402	D	0.000007	T	0.19046	0.0457	N	0.14661	0.345	0.47341	D	0.999392	B;B	0.31026	0.044;0.304	B;B	0.17979	0.02;0.018	T	0.05419	-1.0886	10	0.21014	T	0.42	.	18.974	0.92728	0.0:1.0:0.0:0.0	.	259;259	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	K	259;259;259;524;98	ENSP00000387174:Q259K;ENSP00000307634:Q259K;ENSP00000338378:Q259K;ENSP00000386897:Q524K;ENSP00000411824:Q98K	ENSP00000307634:Q259K	Q	+	1	0	AGAP1	236371243	1.000000	0.71417	0.946000	0.38457	0.371000	0.29859	5.729000	0.68538	2.478000	0.83669	0.650000	0.86243	CAG		0.512	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914	
AGAP1	116987	broad.mit.edu	37	2	236792005	236792005	+	Missense_Mutation	SNP	G	G	A	rs373781245		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:236792005G>A	ENST00000304032.8	+	10	1647	c.1067G>A	c.(1066-1068)cGa>cAa	p.R356Q	AGAP1_ENST00000409538.1_Missense_Mutation_p.R621Q|AGAP1_ENST00000336665.5_Missense_Mutation_p.R356Q|AGAP1_ENST00000428334.2_Missense_Mutation_p.R195Q	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	356	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)	p.R356Q(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CTGTTGAAGCGAAGTGGCAAA	0.388																																					p.R356Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1067A	2						.	G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	113.0	103.0	106.0		1067,1067	5.3	1.0	2		106	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	AGAP1	NM_001037131.2,NM_014914.4	43,43	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	356/858,356/805	236792005	2,13004	2203	4300	6503	236456744	SO:0001583	missense	116987	exon10			AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.1067G>A	2.37:g.236792005G>A	ENSP00000307634:p.Arg356Gln		236456744	NM_001037131	B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	ENST00000304032.8	37	CCDS33408.1	.	.	.	.	.	.	.	.	.	.	G	35	5.471084	0.96274	2.27E-4	1.16E-4	ENSG00000157985	ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.3	5.3	0.74995	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.86723	0.6001	M	0.66939	2.045	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73380	0.927;0.98	D	0.85571	0.1234	10	0.40728	T	0.16	.	18.1477	0.89663	0.0:0.0:1.0:0.0	.	356;356	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	Q	356;356;621;195	ENSP00000307634:R356Q;ENSP00000338378:R356Q;ENSP00000386897:R621Q;ENSP00000411824:R195Q	ENSP00000307634:R356Q	R	+	2	0	AGAP1	236456744	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.073000	0.93992	2.652000	0.90054	0.655000	0.94253	CGA		0.388	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914	
IQCA1	79781	broad.mit.edu	37	2	237276915	237276915	+	Missense_Mutation	SNP	G	G	A	rs370743777		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:237276915G>A	ENST00000409907.3	-	14	1865	c.1591C>T	c.(1591-1593)Cgc>Tgc	p.R531C	RP11-785G17.1_ENST00000605740.1_RNA|IQCA1_ENST00000309507.5_Missense_Mutation_p.R528C|IQCA1_ENST00000431676.2_Missense_Mutation_p.R490C	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	531							ATP binding (GO:0005524)	p.R539C(1)|p.R531C(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						GACACCTGGCGAAGAGTAGTC	0.507																																					p.R531C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1591T	2						.	G	CYS/ARG	1,3905		0,1,1952	50.0	52.0	51.0		1591	5.5	0.9	2		51	0,8314		0,0,4157	no	missense	IQCA1	NM_024726.3	180	0,1,6109	AA,AG,GG		0.0,0.0256,0.0082	probably-damaging	531/823	237276915	1,12219	1953	4157	6110	236941654	SO:0001583	missense	79781	exon14			AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.1591C>T	2.37:g.237276915G>A	ENSP00000387347:p.Arg531Cys		236941654	NM_024726	B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	ENST00000409907.3	37	CCDS46549.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.168659	0.78339	2.56E-4	0.0	ENSG00000132321	ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437	D;D;D	0.89343	-2.5;-2.5;-2.5	5.54	5.54	0.83059	.	0.000000	0.56097	D	0.000029	D	0.94089	0.8105	M	0.77616	2.38	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;0.999	P;P;P	0.62184	0.899;0.899;0.899	D	0.94364	0.7590	10	0.72032	D	0.01	.	19.5023	0.95100	0.0:0.0:1.0:0.0	.	490;539;531	E7EWQ0;E9PH78;Q86XH1	.;.;IQCA1_HUMAN	C	531;539;528;490;528	ENSP00000387347:R531C;ENSP00000311951:R528C;ENSP00000407213:R490C	ENSP00000254653:R532C	R	-	1	0	IQCA1	236941654	1.000000	0.71417	0.934000	0.37439	0.883000	0.51084	6.062000	0.71155	2.605000	0.88082	0.591000	0.81541	CGC		0.507	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726	
COL6A3	1293	broad.mit.edu	37	2	238296564	238296564	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:238296564C>T	ENST00000295550.4	-	4	1425	c.973G>A	c.(973-975)Gcc>Acc	p.A325T	COL6A3_ENST00000409809.1_Missense_Mutation_p.A119T|COL6A3_ENST00000353578.4_Missense_Mutation_p.A119T|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000392004.3_Missense_Mutation_p.A119T|COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000346358.4_Missense_Mutation_p.A325T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	325	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A325T(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AAATCAAGGGCGAGGCCGATA	0.617																																					p.A119T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G355A	2						.						39.0	39.0	39.0					2																	238296564		2203	4300	6503	237961303	SO:0001583	missense	1293	exon3			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.973G>A	2.37:g.238296564C>T	ENSP00000295550:p.Ala325Thr		237961303	NM_057167	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365615	0.61513	.	.	ENSG00000163359	ENST00000295550;ENST00000353578;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000433762	D;D;D;D;D;D	0.99483	-2.56;-2.56;-2.56;-2.56;-2.56;-5.99	5.17	5.17	0.71159	von Willebrand factor, type A (3);	0.000000	0.47093	U	0.000243	D	0.99701	0.9886	H	0.95470	3.675	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.85130	0.997;0.928;0.978;0.996	D	0.97467	1.0038	10	0.66056	D	0.02	.	18.7072	0.91643	0.0:1.0:0.0:0.0	.	325;119;119;325	E9PCV6;E9PGQ9;P12111-2;P12111	.;.;.;CO6A3_HUMAN	T	325;119;119;325;119;325	ENSP00000295550:A325T;ENSP00000315873:A119T;ENSP00000386844:A119T;ENSP00000295546:A325T;ENSP00000375861:A119T;ENSP00000389539:A325T	ENSP00000295550:A325T	A	-	1	0	COL6A3	237961303	1.000000	0.71417	0.939000	0.37840	0.495000	0.33615	7.724000	0.84798	2.405000	0.81733	0.650000	0.86243	GCC		0.617	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
LRRFIP1	9208	broad.mit.edu	37	2	238671319	238671319	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:238671319T>C	ENST00000392000.4	+	11	1080	c.963T>C	c.(961-963)acT>acC	p.T321T	LRRFIP1_ENST00000289175.6_Silent_p.T265T|LRRFIP1_ENST00000244815.5_Silent_p.T297T|LRRFIP1_ENST00000308482.9_Intron	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	321					innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)	p.T321T(1)|p.T297T(1)		NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		TGCACAATACTGAGAAAGAAC	0.443																																					p.T321T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T963C	2						.						75.0	68.0	71.0					2																	238671319		2203	4300	6503	238336058	SO:0001819	synonymous_variant	9208	exon11			AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"""GC-binding factor 2"""	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.963T>C	2.37:g.238671319T>C			238336058	NM_001137552	E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Silent	SNP	ENST00000392000.4	37	CCDS46552.1																																																																																				0.443	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735	
KIF1A	547	broad.mit.edu	37	2	241700749	241700749	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:241700749C>T	ENST00000320389.7	-	23	2293	c.2135G>A	c.(2134-2136)cGg>cAg	p.R712Q	KIF1A_ENST00000498729.2_Missense_Mutation_p.R721Q	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	712					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.R712Q(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CTTCCACTTCCGGAAGGCCCA	0.612																																					p.R712Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2135A	2						.						79.0	88.0	85.0					2																	241700749		2069	4203	6272	241349422	SO:0001583	missense	547	exon23			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2135G>A	2.37:g.241700749C>T	ENSP00000322791:p.Arg712Gln		241349422	NM_004321	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.341579	0.81911	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.72615	-0.67;-0.67;-0.67	5.05	5.05	0.67936	.	0.000000	0.85682	U	0.000000	T	0.76716	0.4026	L	0.44542	1.39	0.80722	D	1	P;D;D	0.71674	0.769;0.998;0.972	B;P;B	0.59595	0.228;0.86;0.357	T	0.74811	-0.3538	10	0.33141	T	0.24	.	18.3823	0.90454	0.0:1.0:0.0:0.0	.	721;721;712	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	Q	712;721;721;721	ENSP00000322791:R712Q;ENSP00000438388:R721Q;ENSP00000384231:R721Q	ENSP00000322791:R712Q	R	-	2	0	KIF1A	241349422	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.167000	0.77562	2.363000	0.80096	0.590000	0.80494	CGG		0.612	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483	
SNED1	25992	broad.mit.edu	37	2	242021710	242021710	+	Missense_Mutation	SNP	G	G	A	rs577568792		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:242021710G>A	ENST00000310397.8	+	29	4052	c.4052G>A	c.(4051-4053)cGc>cAc	p.R1351H	SNED1_ENST00000405547.3_Missense_Mutation_p.R1318H|MTERFD2_ENST00000464344.2_Intron|SNED1_ENST00000342631.6_Missense_Mutation_p.R1318H	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	1351					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.R1331H(1)		NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		AAGGTGTCCCGCCCCTGCACA	0.602																																					p.R1351H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4052A	2						.						170.0	184.0	179.0					2																	242021710		2024	4177	6201	241670383	SO:0001583	missense	25992	exon29			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.4052G>A	2.37:g.242021710G>A	ENSP00000308893:p.Arg1351His		241670383	NM_001080437	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	ENST00000310397.8	37	CCDS46562.1	.	.	.	.	.	.	.	.	.	.	G	0.660	-0.806159	0.02819	.	.	ENSG00000162804	ENST00000405547;ENST00000310397;ENST00000342631	D;D;D	0.83506	-1.7;-1.73;-1.67	4.48	-0.421	0.12332	.	0.843548	0.09785	N	0.756117	T	0.57577	0.2063	N	0.02802	-0.49	0.09310	N	0.999997	B;B	0.09022	0.001;0.002	B;B	0.04013	0.0;0.001	T	0.42882	-0.9425	10	0.08599	T	0.76	.	8.0289	0.30453	0.7222:0.0:0.2778:0.0	.	1318;1351	B5MEF5;Q8TER0	.;SNED1_HUMAN	H	1318;1351;1318	ENSP00000386007:R1318H;ENSP00000308893:R1351H;ENSP00000342992:R1318H	ENSP00000308893:R1351H	R	+	2	0	SNED1	241670383	0.512000	0.26186	0.474000	0.27266	0.228000	0.25075	0.989000	0.29629	-0.359000	0.08150	-0.369000	0.07265	CGC		0.602	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482	
HDLBP	3069	broad.mit.edu	37	2	242195708	242195708	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:242195708C>T	ENST00000391975.1	-	7	991	c.764G>A	c.(763-765)cGc>cAc	p.R255H	HDLBP_ENST00000427183.2_Missense_Mutation_p.R291H|HDLBP_ENST00000391976.2_Missense_Mutation_p.R255H|HDLBP_ENST00000310931.4_Missense_Mutation_p.R255H	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	255	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)	p.R255H(1)		breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GATGTTGATGCGCGTGCCTGT	0.537																																					p.R255H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G764A	2						.						128.0	106.0	114.0					2																	242195708		2203	4300	6503	241844381	SO:0001583	missense	3069	exon7				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.764G>A	2.37:g.242195708C>T	ENSP00000375836:p.Arg255His		241844381	NM_005336	B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.63|19.63	3.863060|3.863060	0.71949|0.71949	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000453141|ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183	.|T;T;T;T	.|0.31247	.|1.5;1.5;1.5;1.5	5.74|5.74	3.97|3.97	0.46021|0.46021	.|K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.55081|0.55081	0.1898|0.1898	M|M	0.77313|0.77313	2.365|2.365	0.32565|0.32565	N|N	0.530534|0.530534	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.83275	.|0.996;0.985;0.996	T|T	0.68345|0.68345	-0.5433|-0.5433	5|10	.|0.62326	.|D	.|0.03	-20.5591|-20.5591	12.6943|12.6943	0.56994|0.56994	0.0:0.8666:0.0:0.1334|0.0:0.8666:0.0:0.1334	.|.	.|255;291;255	.|B2R5V9;E7EM71;Q00341	.|.;.;VIGLN_HUMAN	T|H	156|255;255;255;291	.|ENSP00000375836:R255H;ENSP00000375837:R255H;ENSP00000312042:R255H;ENSP00000399139:R291H	.|ENSP00000312042:R255H	A|R	-|-	1|2	0|0	HDLBP|HDLBP	241844381|241844381	1.000000|1.000000	0.71417|0.71417	0.965000|0.965000	0.40720|0.40720	0.443000|0.443000	0.32047|0.32047	7.713000|7.713000	0.84693|0.84693	0.909000|0.909000	0.36697|0.36697	-0.251000|-0.251000	0.11542|0.11542	GCA|CGC		0.537	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346	
KIDINS220	57498	broad.mit.edu	37	2	8934035	8934035	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:8934035C>T	ENST00000256707.3	-	12	1362	c.1181G>A	c.(1180-1182)gGg>gAg	p.G394E	KIDINS220_ENST00000319688.5_Missense_Mutation_p.G395E|KIDINS220_ENST00000418530.1_Missense_Mutation_p.G352E|KIDINS220_ENST00000427284.1_Missense_Mutation_p.G394E|KIDINS220_ENST00000473731.1_Missense_Mutation_p.G394E	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	394					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)	p.G394E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AAGTAATCGCCCATCTTTGGG	0.403																																					p.G394E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1181A	2						.						91.0	84.0	86.0					2																	8934035		1824	4077	5901	8851486	SO:0001583	missense	57498	exon12			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.1181G>A	2.37:g.8934035C>T	ENSP00000256707:p.Gly394Glu		8851486	NM_020738	A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	c	18.37	3.609512	0.66558	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T;T	0.64991	-0.13;2.04;2.04;2.04;2.04;2.04;2.04	5.83	5.83	0.93111	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.76737	0.4029	L	0.49513	1.565	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.996;1.0;1.0	T	0.75880	-0.3161	10	0.56958	D	0.05	.	20.1862	0.98216	0.0:1.0:0.0:0.0	.	395;395;352;394	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0	.;.;.;KDIS_HUMAN	E	141;78;394;394;352;394;395;395	ENSP00000420364:G141E;ENSP00000256707:G394E;ENSP00000411849:G394E;ENSP00000414923:G352E;ENSP00000418974:G394E;ENSP00000419964:G395E;ENSP00000319947:G395E	ENSP00000256707:G394E	G	-	2	0	KIDINS220	8851486	1.000000	0.71417	0.939000	0.37840	0.025000	0.11179	7.422000	0.80217	2.775000	0.95449	0.632000	0.83419	GGG		0.403	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738	
ITGB1BP1	9270	broad.mit.edu	37	2	9554308	9554308	+	Splice_Site	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:9554308T>C	ENST00000360635.3	-	4	1046	c.150A>G	c.(148-150)tcA>tcG	p.S50S	ITGB1BP1_ENST00000490426.1_Intron|ITGB1BP1_ENST00000238091.4_Splice_Site_p.S50S|ITGB1BP1_ENST00000456913.2_Splice_Site_p.S50S|ITGB1BP1_ENST00000359712.3_Splice_Site_p.S50S|ITGB1BP1_ENST00000355346.4_Splice_Site_p.S50S|ITGB1BP1_ENST00000488451.1_Splice_Site_p.S50S			O14713	ITBP1_HUMAN	integrin beta 1 binding protein 1	50	Ser/Thr-rich.				activation of protein kinase B activity (GO:0032148)|biomineral tissue development (GO:0031214)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|myoblast migration (GO:0051451)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|Notch signaling pathway (GO:0007219)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)|receptor clustering (GO:0043113)|regulation of blood vessel size (GO:0050880)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of integrin-mediated signaling pathway (GO:2001044)|transcription, DNA-templated (GO:0006351)|tube formation (GO:0035148)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GDP-dissociation inhibitor activity (GO:0005092)|integrin binding (GO:0005178)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)	p.S50S(1)		kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		TTTATGTACCTGAGCTTTTGG	0.448																																					p.S50S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A150G	2						.						172.0	166.0	168.0					2																	9554308		2203	4300	6503	9471759	SO:0001630	splice_region_variant	9270	exon3			AF012023	CCDS1662.1, CCDS1663.1	2p25.2	2008-02-05			ENSG00000119185	ENSG00000119185			23927	protein-coding gene	gene with protein product	"""integrin cytoplasmic domain-associated protein 1"", ""integrin cytoplasmic domain-associated protein 1-beta"", ""integrin cytoplasmic domain-associated protein 1-alpha"", ""bodenin"""	607153				11854171, 9281591	Standard	NM_004763		Approved	ICAP-1A, ICAP-1B, ICAP1, ICAP1A, ICAP1B, ICAP-1alpha	uc002qzj.3	O14713	OTTHUMG00000090414	ENST00000360635.3:c.151+1A>G	2.37:g.9554308T>C			9471759	NM_022334	D6W4Y9|O14714|Q53RS0	Silent	SNP	ENST00000360635.3	37	CCDS1662.1																																																																																				0.448	ITGB1BP1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314623.2	NM_004763, NM_022334	Silent
YWHAQ	10971	broad.mit.edu	37	2	9770499	9770499	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:9770499G>A	ENST00000381844.4	-	1	246	c.83C>T	c.(82-84)gCa>gTa	p.A28V	YWHAQ_ENST00000238081.3_Missense_Mutation_p.A28V			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta	28					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|protein complex (GO:0043234)	protein N-terminus binding (GO:0047485)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		CTCGGTCACTGCCTTCATGCA	0.687																																					p.A28V												.	.	0			c.C83T	2						.						38.0	36.0	37.0					2																	9770499		2202	4300	6502	9687950	SO:0001583	missense	10971	exon2			AF070556	CCDS1666.1	2p25.2-p25.1	2013-12-03	2013-12-03		ENSG00000134308	ENSG00000134308			12854	protein-coding gene	gene with protein product	"""protein tau"""	609009	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide"""			11080204	Standard	NM_006826		Approved	HS1, 14-3-3	uc002qzx.3	P27348	OTTHUMG00000013848	ENST00000381844.4:c.83C>T	2.37:g.9770499G>A	ENSP00000371267:p.Ala28Val		9687950	NM_006826	D6W4Z5|Q567U5|Q5TZU8|Q9UP48	Missense_Mutation	SNP	ENST00000381844.4	37	CCDS1666.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516553	0.64634	.	.	ENSG00000134308	ENST00000238081;ENST00000381844;ENST00000446619	T;T;T	0.43688	0.94;0.94;0.94	5.2	5.2	0.72013	14-3-3 domain (4);	0.084593	0.48767	D	0.000162	T	0.36880	0.0983	L	0.38692	1.165	0.51012	D	0.999908	B	0.30605	0.287	B	0.26310	0.068	T	0.22103	-1.0226	10	0.52906	T	0.07	.	18.7305	0.91733	0.0:0.0:1.0:0.0	.	28	P27348	1433T_HUMAN	V	28	ENSP00000238081:A28V;ENSP00000371267:A28V;ENSP00000398990:A28V	ENSP00000238081:A28V	A	-	2	0	YWHAQ	9687950	1.000000	0.71417	0.991000	0.47740	0.967000	0.64934	3.072000	0.50049	2.412000	0.81896	0.491000	0.48974	GCA		0.687	YWHAQ-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039014.4	NM_006826	
PREB	10113	broad.mit.edu	37	2	27355204	27355204	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:27355204G>T	ENST00000260643.2	-	6	1073	c.820C>A	c.(820-822)Ctg>Atg	p.L274M	PREB_ENST00000406567.3_Intron|PREB_ENST00000416802.1_5'Flank	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding	274					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L274M(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCTGGCGCAGGCGCTTGTGG	0.622																																					p.L274M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C820A	2						.						49.0	58.0	55.0					2																	27355204		2203	4299	6502	27208708	SO:0001583	missense	10113	exon6				CCDS1738.1	2p23	2013-01-10			ENSG00000138073	ENSG00000138073		"""WD repeat domain containing"""	9356	protein-coding gene	gene with protein product		606395				10194769, 12735795	Standard	NM_013388		Approved	SEC12	uc002rix.1	Q9HCU5	OTTHUMG00000097076	ENST00000260643.2:c.820C>A	2.37:g.27355204G>T	ENSP00000260643:p.Leu274Met		27208708	NM_013388	Q53SZ8|Q9UH94	Missense_Mutation	SNP	ENST00000260643.2	37	CCDS1738.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.85|16.85	3.236156|3.236156	0.58886|0.58886	.|.	.|.	ENSG00000138073|ENSG00000138073	ENST00000260643;ENST00000546336|ENST00000456259;ENST00000430533	T|.	0.79749|.	-1.3|.	6.08|6.08	4.26|4.26	0.50523|0.50523	Quinonprotein alcohol dehydrogenase-like (1);|.	0.370507|.	0.28273|.	N|.	0.015943|.	T|T	0.35566|0.35566	0.0936|0.0936	L|L	0.34521|0.34521	1.04|1.04	0.30677|0.30677	N|N	0.752773|0.752773	B|.	0.31009|.	0.303|.	B|.	0.33890|.	0.172|.	T|T	0.33420|0.33420	-0.9869|-0.9869	10|5	0.34782|.	T|.	0.22|.	-6.1745|-6.1745	8.599|8.599	0.33734|0.33734	0.0774:0.2915:0.6311:0.0|0.0774:0.2915:0.6311:0.0	.|.	274|.	Q9HCU5|.	PREB_HUMAN|.	M|H	274|17;29	ENSP00000260643:L274M|.	ENSP00000260643:L274M|.	L|P	-|-	1|2	2|0	PREB|PREB	27208708|27208708	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.447000|3.447000	0.52936|0.52936	0.873000|0.873000	0.35799|0.35799	0.655000|0.655000	0.94253|0.94253	CTG|CCT		0.622	PREB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214195.1	NM_013388	
IFT172	26160	broad.mit.edu	37	2	27703942	27703942	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:27703942G>A	ENST00000260570.3	-	8	859	c.756C>T	c.(754-756)ggC>ggT	p.G252G	IFT172_ENST00000359466.6_Silent_p.G252G|IFT172_ENST00000416524.2_Silent_p.G231G	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	252					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)		p.G252G(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CAACAGACTGGCCCCCAGGAC	0.463																																					p.G252G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C756T	2						.						72.0	65.0	67.0					2																	27703942		2203	4300	6503	27557446	SO:0001819	synonymous_variant	26160	exon8			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.756C>T	2.37:g.27703942G>A			27557446	NM_015662	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Silent	SNP	ENST00000260570.3	37	CCDS1755.1																																																																																				0.463	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662	
C2orf16	84226	broad.mit.edu	37	2	27803751	27803751	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:27803751G>A	ENST00000408964.2	+	1	4363	c.4312G>A	c.(4312-4314)Gct>Act	p.A1438T	ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000355467.4_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000556601.1_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000379717.1_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1438						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.A1438T(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GTGCAGATCAGCTCAACAGCC	0.502																																					p.A1438T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4312A	2						.						92.0	97.0	95.0					2																	27803751		2043	4190	6233	27657255	SO:0001583	missense	84226	exon1			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.4312G>A	2.37:g.27803751G>A	ENSP00000386190:p.Ala1438Thr		27657255	NM_032266	B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203011	0.58234	.	.	ENSG00000221843	ENST00000408964	T	0.53206	0.63	5.01	0.65	0.17812	.	.	.	.	.	T	0.25644	0.0624	N	0.14661	0.345	0.18873	N	0.999985	B	0.12013	0.005	B	0.14578	0.011	T	0.17077	-1.0381	9	0.33940	T	0.23	.	4.1124	0.10065	0.0903:0.3129:0.4557:0.1411	.	1438	Q68DN1	CB016_HUMAN	T	1438	ENSP00000386190:A1438T	ENSP00000386190:A1438T	A	+	1	0	C2orf16	27657255	0.020000	0.18652	0.366000	0.25914	0.520000	0.34377	-0.116000	0.10724	0.184000	0.20083	-0.219000	0.12488	GCT		0.502	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266	
ALK	238	broad.mit.edu	37	2	29551323	29551323	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:29551323G>A	ENST00000389048.3	-	6	2213	c.1307C>T	c.(1306-1308)gCc>gTc	p.A436V	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	436					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.A436V(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GCTCTGCAGGGCCATCTTGGA	0.592			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																												p.A436V		yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"""L, E, M"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1307T	2						.						78.0	70.0	73.0					2																	29551323		2203	4300	6503	29404827	SO:0001583	missense	238	exon6	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.1307C>T	2.37:g.29551323G>A	ENSP00000373700:p.Ala436Val		29404827	NM_004304	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	g	22.3	4.267837	0.80469	.	.	ENSG00000171094	ENST00000389048	T	0.77620	-1.11	5.2	5.2	0.72013	.	0.000000	0.47455	U	0.000222	T	0.62539	0.2436	N	0.24115	0.695	0.80722	D	1	B	0.32071	0.355	B	0.23419	0.046	T	0.61242	-0.7102	9	.	.	.	.	14.2651	0.66113	0.0:0.0:1.0:0.0	.	436	Q9UM73	ALK_HUMAN	V	436	ENSP00000373700:A436V	.	A	-	2	0	ALK	29404827	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.300000	0.59079	2.445000	0.82738	0.394000	0.25966	GCC		0.592	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304	
EHD3	30845	broad.mit.edu	37	2	31483635	31483635	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:31483635C>T	ENST00000322054.5	+	4	1047	c.762C>T	c.(760-762)atC>atT	p.I254I	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	254	Dynamin-type G.				blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)	p.I254I(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GGGTCTACATCGGCTCCTTCT	0.597																																					p.I254I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C762T	2						.						92.0	89.0	90.0					2																	31483635		2203	4300	6503	31337139	SO:0001819	synonymous_variant	30845	exon4			AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"""EF-hand domain containing"""	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.762C>T	2.37:g.31483635C>T			31337139	NM_014600	B4DFR5|D6W574|Q8N514|Q9NZB3	Silent	SNP	ENST00000322054.5	37	CCDS1774.1																																																																																				0.597	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600	
XDH	7498	broad.mit.edu	37	2	31602767	31602767	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:31602767A>G	ENST00000379416.3	-	13	1256	c.1208T>C	c.(1207-1209)aTa>aCa	p.I403T		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	403	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)	p.I403T(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	GGAGAGCAGTATCTCCTCCGG	0.522																																					p.I403T	Colon(66;682 1445 30109 40147)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1208C	2						.						117.0	114.0	115.0					2																	31602767		2203	4300	6503	31456271	SO:0001583	missense	7498	exon13			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.1208T>C	2.37:g.31602767A>G	ENSP00000368727:p.Ile403Thr		31456271	NM_000379	Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.822813	0.90873	.	.	ENSG00000158125	ENST00000379416	T	0.28069	1.63	6.1	6.1	0.99115	FAD-binding, type 2 (2);CO dehydrogenase flavoprotein-like, FAD-binding, subdomain 2 (1);Xanthine dehydrogenase, small subunit (1);Molybdopterin dehydrogenase, FAD-binding (1);	0.183467	0.56097	D	0.000040	T	0.58821	0.2149	M	0.92026	3.265	0.80722	D	1	P	0.48350	0.909	P	0.54210	0.745	T	0.68224	-0.5465	10	0.72032	D	0.01	.	16.3594	0.83251	1.0:0.0:0.0:0.0	.	403	P47989	XDH_HUMAN	T	403	ENSP00000368727:I403T	ENSP00000368727:I403T	I	-	2	0	XDH	31456271	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	8.770000	0.91746	2.340000	0.79590	0.528000	0.53228	ATA		0.522	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379	
SPAST	6683	broad.mit.edu	37	2	32340865	32340865	+	Missense_Mutation	SNP	G	G	A	rs200329686		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:32340865G>A	ENST00000315285.3	+	6	1090	c.965G>A	c.(964-966)aGc>aAc	p.S322N	SPAST_ENST00000345662.1_Missense_Mutation_p.S290N	NM_014946.3	NP_055761.2			spastin									p.S322N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AATGTGGACAGCAACCTTGCT	0.294																																					p.S290N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G869A	2						.						84.0	94.0	90.0					2																	32340865		2202	4299	6501	32194369	SO:0001583	missense	6683	exon5			AJ246001	CCDS1778.1, CCDS1779.1	2p24-p21	2014-09-17	2005-03-15	2005-03-17	ENSG00000021574	ENSG00000021574		"""ATPases / AAA-type"""	11233	protein-coding gene	gene with protein product		604277	"""spastic paraplegia 4 (autosomal dominant; spastin)"""	SPG4		10493830, 10610178	Standard	NM_014946		Approved	FSP2, ADPSP, KIAA1083	uc002roc.3	Q9UBP0	OTTHUMG00000128455	ENST00000315285.3:c.965G>A	2.37:g.32340865G>A	ENSP00000320885:p.Ser322Asn		32194369	NM_199436		Missense_Mutation	SNP	ENST00000315285.3	37	CCDS1778.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075545	0.76415	.	.	ENSG00000021574	ENST00000345662;ENST00000315285	T;T	0.64438	-0.1;-0.1	5.58	5.58	0.84498	.	0.163970	0.64402	D	0.000009	T	0.64527	0.2606	N	0.20845	0.615	0.58432	D	0.999999	D;P	0.63046	0.992;0.656	P;P	0.59487	0.858;0.459	T	0.61874	-0.6973	10	0.28530	T	0.3	-23.6686	19.1663	0.93559	0.0:0.0:1.0:0.0	.	290;322	E5KRP6;Q9UBP0	.;SPAST_HUMAN	N	290;322	ENSP00000340817:S290N;ENSP00000320885:S322N	ENSP00000320885:S322N	S	+	2	0	SPAST	32194369	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.623000	0.88846	0.460000	0.39030	AGC		0.294	SPAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250253.1	NM_199436	
NLRC4	58484	broad.mit.edu	37	2	32474933	32474933	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:32474933C>G	ENST00000404025.2	-	5	2488	c.2000G>C	c.(1999-2001)cGg>cCg	p.R667P	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.R667P|NLRC4_ENST00000402280.1_Missense_Mutation_p.R667P			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	667					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.R667P(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GCTGAAATCCCGGAGTGTGAC	0.473																																					p.R667P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2000C	2						.						88.0	91.0	90.0					2																	32474933		2203	4300	6503	32328437	SO:0001583	missense	58484	exon4			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.2000G>C	2.37:g.32474933C>G	ENSP00000385090:p.Arg667Pro		32328437	NM_021209	A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326261	0.41197	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.11821	2.74;2.74;2.74	3.4	1.28	0.21552	.	0.281428	0.22150	N	0.063926	T	0.16041	0.0386	L	0.29908	0.895	0.29248	N	0.872167	D	0.71674	0.998	P	0.57776	0.827	T	0.15235	-1.0444	9	0.46703	T	0.11	-6.5283	6.7077	0.23260	0.0:0.599:0.0:0.401	.	667	Q9NPP4	NLRC4_HUMAN	P	667	ENSP00000354159:R667P;ENSP00000385428:R667P;ENSP00000385090:R667P	ENSP00000354159:R667P	R	-	2	0	NLRC4	32328437	0.021000	0.18746	0.887000	0.34795	0.944000	0.59088	-0.030000	0.12308	0.309000	0.22966	0.543000	0.68304	CGG		0.473	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209	
LTBP1	4052	broad.mit.edu	37	2	33622349	33622349	+	Splice_Site	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:33622349G>A	ENST00000404816.2	+	33	5337	c.4984G>A	c.(4984-4986)Gat>Aat	p.D1662N	LTBP1_ENST00000407925.1_Splice_Site_p.D1336N|LTBP1_ENST00000354476.3_Splice_Site_p.D1663N|LTBP1_ENST00000418533.2_Splice_Site_p.D1294N|LTBP1_ENST00000272273.5_Splice_Site_p.D560N|LTBP1_ENST00000404525.1_Splice_Site_p.D1283N|LTBP1_ENST00000402934.1_Splice_Site_p.D1281N|LTBP1_ENST00000390003.4_Splice_Site_p.D1337N			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1662	EGF-like 18; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.D1663N(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GACCTGTGTCGGTAAGAATGA	0.433																																					p.D1336N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4006A	2						.						189.0	162.0	171.0					2																	33622349		2203	4300	6503	33475853	SO:0001630	splice_region_variant	4052	exon29				CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.4984+1G>A	2.37:g.33622349G>A			33475853	NM_000627	A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	G	36	5.685008	0.96784	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000272273	D;D;D;D;D;D;D;D	0.99051	-5.37;-5.37;-5.37;-5.37;-5.37;-5.37;-5.37;-5.37	5.49	5.49	0.81192	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.99275	0.9747	M	0.78801	2.425	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;1.0;0.998;0.985;0.999;0.999;0.999	D	0.99690	1.1001	9	0.66056	D	0.02	.	19.7433	0.96241	0.0:0.0:1.0:0.0	.	560;1662;1294;1283;1336;1337;1663	E7EUU6;Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	.;LTBP1_HUMAN;.;.;.;.;.	N	1662;1663;1337;1294;1281;1283;1336;560	ENSP00000386043:D1662N;ENSP00000346467:D1663N;ENSP00000374653:D1337N;ENSP00000393057:D1294N;ENSP00000384373:D1281N;ENSP00000385359:D1283N;ENSP00000384091:D1336N;ENSP00000272273:D560N	ENSP00000272273:D560N	D	+	1	0	LTBP1	33475853	1.000000	0.71417	0.965000	0.40720	0.945000	0.59286	9.700000	0.98707	2.733000	0.93635	0.655000	0.94253	GAT		0.433	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943	Missense_Mutation
HEATR5B	54497	broad.mit.edu	37	2	37259808	37259808	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:37259808C>T	ENST00000233099.5	-	22	3420	c.3325G>A	c.(3325-3327)Gca>Aca	p.A1109T	HEATR5B_ENST00000354531.2_Missense_Mutation_p.A1109T	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1109						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.A1109T(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GTATTTTTTGCCAGGCTCATG	0.393																																					p.A1109T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3325A	2						.						143.0	134.0	137.0					2																	37259808		2203	4300	6503	37113312	SO:0001583	missense	54497	exon22			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.3325G>A	2.37:g.37259808C>T	ENSP00000233099:p.Ala1109Thr		37113312	NM_019024	B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858700	0.71834	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.65916	-0.18;-0.18	5.08	5.08	0.68730	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.54598	0.1868	L	0.52573	1.65	0.80722	D	1	P	0.36789	0.57	B	0.32211	0.142	T	0.53947	-0.8366	10	0.15499	T	0.54	-13.4804	18.4662	0.90755	0.0:1.0:0.0:0.0	.	1109	Q9P2D3	HTR5B_HUMAN	T	1109	ENSP00000233099:A1109T;ENSP00000346531:A1109T	ENSP00000233099:A1109T	A	-	1	0	HEATR5B	37113312	1.000000	0.71417	0.113000	0.21522	0.836000	0.47400	7.759000	0.85235	2.345000	0.79718	0.557000	0.71058	GCA		0.393	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024	
CEBPZ	10153	broad.mit.edu	37	2	37443534	37443534	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:37443534G>A	ENST00000234170.5	-	7	2381	c.2236C>T	c.(2236-2238)Cca>Tca	p.P746S		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	746					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.P746S(1)		breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TCCTGCAGTGGGTCCCCTGAA	0.353																																					p.P746S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2236T	2						.						57.0	65.0	62.0					2																	37443534		2197	4298	6495	37297038	SO:0001583	missense	10153	exon7			M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.2236C>T	2.37:g.37443534G>A	ENSP00000234170:p.Pro746Ser		37297038	NM_005760	Q8NE75	Missense_Mutation	SNP	ENST00000234170.5	37	CCDS1787.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.455089	0.63401	.	.	ENSG00000115816	ENST00000234170;ENST00000545744	T	0.21543	2.0	5.4	5.4	0.78164	Armadillo-type fold (1);	0.051460	0.85682	D	0.000000	T	0.57621	0.2066	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.68010	-0.5522	10	0.87932	D	0	.	19.1602	0.93527	0.0:0.0:1.0:0.0	.	746	Q03701	CEBPZ_HUMAN	S	746	ENSP00000234170:P746S	ENSP00000234170:P746S	P	-	1	0	CEBPZ	37297038	1.000000	0.71417	1.000000	0.80357	0.037000	0.13140	9.235000	0.95353	2.525000	0.85131	0.650000	0.86243	CCA		0.353	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760	
DHX57	90957	broad.mit.edu	37	2	39050305	39050305	+	Nonsense_Mutation	SNP	G	G	A	rs143143351		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:39050305G>A	ENST00000295373.6	-	17	3247	c.3121C>T	c.(3121-3123)Cga>Tga	p.R1041*		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1041							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R1041*(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				CCTAAGTCTCGTAATCGTATT	0.433																																					p.R1041X	Melanoma(191;1090 2095 4375 23729 47341)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3121T	2						.	G	stop/ARG	0,4406		0,0,2203	100.0	97.0	98.0		3121	5.8	1.0	2	dbSNP_134	98	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	DHX57	NM_198963.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1041/1387	39050305	1,13005	2203	4300	6503	38903809	SO:0001587	stop_gained	90957	exon17			AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.3121C>T	2.37:g.39050305G>A	ENSP00000295373:p.Arg1041*		38903809	NM_198963	A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Nonsense_Mutation	SNP	ENST00000295373.6	37	CCDS1800.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.583236|6.583236	0.97684|0.97684	0.0|0.0	1.16E-4|1.16E-4	ENSG00000163214|ENSG00000163214	ENST00000295373|ENST00000452978	.|.	.|.	.|.	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	0.518222|.	0.16157|.	N|.	0.226988|.	.|T	.|0.79862	.|0.4519	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77691	.|-0.2493	.|3	0.02654|.	T|.	1|.	.|.	19.9564|19.9564	0.97221|0.97221	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|M	1041|364	.|.	ENSP00000295373:R1041X|.	R|T	-|-	1|2	2|0	DHX57|DHX57	38903809|38903809	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.997000|0.997000	0.91878|0.91878	6.316000|6.316000	0.72857|0.72857	2.708000|2.708000	0.92522|0.92522	0.650000|0.650000	0.86243|0.86243	CGA|ACG		0.433	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646	
SOS1	6654	broad.mit.edu	37	2	39250342	39250342	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:39250342A>G	ENST00000426016.1	-	11	1313	c.1227T>C	c.(1225-1227)agT>agC	p.S409S	SOS1_ENST00000472480.1_5'UTR|SOS1_ENST00000402219.2_Silent_p.S409S|SOS1_ENST00000395038.2_Silent_p.S409S|SOS1_ENST00000428721.2_3'UTR			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	409					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S409S(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TCATTTGCTGACTATAAAACC	0.368									Noonan syndrome																												p.S409S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1227C	2						.						64.0	57.0	59.0					2																	39250342		2202	4297	6499	39103846	SO:0001819	synonymous_variant	6654	exon10	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.1227T>C	2.37:g.39250342A>G			39103846	NM_005633	A8K2G3|B4DXG2	Silent	SNP	ENST00000426016.1	37	CCDS1802.1																																																																																				0.368	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633	
SLC8A1	6546	broad.mit.edu	37	2	40342530	40342530	+	Missense_Mutation	SNP	G	G	A	rs142336728		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:40342530G>A	ENST00000403092.1	-	11	2818	c.2785C>T	c.(2785-2787)Cgg>Tgg	p.R929W	SLC8A1_ENST00000332839.4_Missense_Mutation_p.R929W|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000405269.1_Missense_Mutation_p.R893W|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000402441.1_Missense_Mutation_p.R893W|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.R924W|SLC8A1_ENST00000406391.2_Missense_Mutation_p.R893W|SLC8A1_ENST00000542024.1_Missense_Mutation_p.R893W|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000406785.2_Missense_Mutation_p.R893W|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.R921W|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000405901.3_Missense_Mutation_p.R924W|SLC8A1-AS1_ENST00000601679.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	929					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.R929W(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCTGGCCTCCGCCGATACAGC	0.532																																					p.R924W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2770T	2						.						73.0	70.0	71.0					2																	40342530		2203	4300	6503	40196034	SO:0001583	missense	6546	exon9				CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.2785C>T	2.37:g.40342530G>A	ENSP00000384763:p.Arg929Trp		40196034	NM_001112800	A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854130	0.71719	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.35048	1.34;1.37;1.38;1.37;1.34;1.34;1.38;1.33;1.34;1.34	5.94	5.94	0.96194	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	T	0.67915	0.2944	M	0.89478	3.035	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.963;1.0;1.0;1.0	T	0.72918	-0.4146	10	0.87932	D	0	.	17.8596	0.88777	0.0:0.0:1.0:0.0	.	893;916;924;929	P32418-2;P32418-3;F6VPY9;P32418	.;.;.;NAC1_HUMAN	W	893;929;924;929;924;893;893;929;921;916;893;893	ENSP00000383886:R893W;ENSP00000440727:R924W;ENSP00000384763:R929W;ENSP00000385678:R924W;ENSP00000385188:R893W;ENSP00000385535:R893W;ENSP00000332931:R929W;ENSP00000384908:R921W;ENSP00000385811:R893W;ENSP00000443515:R893W	ENSP00000332931:R929W	R	-	1	2	SLC8A1	40196034	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.573000	0.60893	2.820000	0.97059	0.650000	0.86243	CGG		0.532	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097	
MSH6	2956	broad.mit.edu	37	2	48026492	48026492	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:48026492C>A	ENST00000234420.5	+	4	1522	c.1370C>A	c.(1369-1371)gCc>gAc	p.A457D	MSH6_ENST00000538136.1_Missense_Mutation_p.A155D|MSH6_ENST00000540021.1_Missense_Mutation_p.A327D|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	457					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)|p.A457D(1)|p.A457V(1)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GGCAACTGGGCCCATTCTGGC	0.468			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.A457D		yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	.	.	4	Substitution - Missense(2)|Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|skin(1)	c.C1370A	2						.						80.0	75.0	77.0					2																	48026492		2203	4300	6503	47879996	SO:0001583	missense	2956	exon4	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.1370C>A	2.37:g.48026492C>A	ENSP00000234420:p.Ala457Asp		47879996	NM_000179	B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118623	0.77323	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000540021;ENST00000538136	D;D;D	0.89485	-2.52;-2.52;-2.52	5.15	5.15	0.70609	DNA mismatch repair protein MutS, N-terminal (2);DNA mismatch repair protein MutS-like, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95306	0.8477	M	0.87328	2.875	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.994	D	0.95890	0.8906	10	0.72032	D	0.01	-10.5666	18.6193	0.91316	0.0:1.0:0.0:0.0	.	327;457;457	B4DF41;P52701;P52701-2	.;MSH6_HUMAN;.	D	457;455;327;155	ENSP00000234420:A457D;ENSP00000446475:A327D;ENSP00000438580:A155D	ENSP00000234420:A457D	A	+	2	0	MSH6	47879996	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.792000	0.85828	2.408000	0.81797	0.650000	0.86243	GCC		0.468	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179	
MSH6	2956	broad.mit.edu	37	2	48027966	48027966	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:48027966A>G	ENST00000234420.5	+	4	2996	c.2844A>G	c.(2842-2844)gaA>gaG	p.E948E	MSH6_ENST00000538136.1_Silent_p.E646E|MSH6_ENST00000540021.1_Silent_p.E818E|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	948					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)|p.E948E(1)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GAGAAAATGAACAGAGCCTCC	0.453			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.E948E		yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	.	.	3	Whole gene deletion(2)|Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)	c.A2844G	2						.						44.0	44.0	44.0					2																	48027966		2203	4300	6503	47881470	SO:0001819	synonymous_variant	2956	exon4	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.2844A>G	2.37:g.48027966A>G			47881470	NM_000179	B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Silent	SNP	ENST00000234420.5	37	CCDS1836.1																																																																																				0.453	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179	
MSH6	2956	broad.mit.edu	37	2	48030670	48030670	+	Missense_Mutation	SNP	G	G	A	rs63750253		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:48030670G>A	ENST00000234420.5	+	5	3436	c.3284G>A	c.(3283-3285)cGc>cAc	p.R1095H	MSH6_ENST00000538136.1_Missense_Mutation_p.R793H|MSH6_ENST00000540021.1_Missense_Mutation_p.R965H|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1095			R -> H (in CRC; unknown pathological significance; mismatch repair proficient). {ECO:0000269|PubMed:12522549}.		ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)|p.R1095H(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AAAGGATCACGCCATCCTTGC	0.458			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.R1095H		yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	.	.	4	Substitution - Missense(2)|Whole gene deletion(2)	large_intestine(2)|haematopoietic_and_lymphoid_tissue(2)	c.G3284A	2	GRCh37	CM030237	MSH6	M	rs63750253	.						135.0	118.0	124.0					2																	48030670		2203	4300	6503	47884174	SO:0001583	missense	2956	exon5	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.3284G>A	2.37:g.48030670G>A	ENSP00000234420:p.Arg1095His		47884174	NM_000179	B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804382	0.90623	.	.	ENSG00000116062	ENST00000234420;ENST00000543270;ENST00000540021;ENST00000538136	D;D;D	0.87334	-2.24;-2.24;-2.24	5.38	5.38	0.77491	DNA mismatch repair protein MutS, core (1);DNA mismatch repair protein MutS, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96420	0.8832	H	0.98559	4.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.978	D	0.97321	0.9944	10	0.51188	T	0.08	-10.4918	19.1221	0.93367	0.0:0.0:1.0:0.0	rs63750253	965;1095	B4DF41;P52701	.;MSH6_HUMAN	H	1095;63;965;793	ENSP00000234420:R1095H;ENSP00000446475:R965H;ENSP00000438580:R793H	ENSP00000234420:R1095H	R	+	2	0	MSH6	47884174	1.000000	0.71417	0.993000	0.49108	0.880000	0.50808	9.835000	0.99442	2.528000	0.85240	0.491000	0.48974	CGC		0.458	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179	
PPP1R21	129285	broad.mit.edu	37	2	48686996	48686996	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:48686996G>A	ENST00000294952.8	+	5	636	c.479G>A	c.(478-480)gGt>gAt	p.G160D	PPP1R21_ENST00000281394.4_Missense_Mutation_p.G160D|PPP1R21_ENST00000449090.2_Missense_Mutation_p.G160D	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	160						membrane (GO:0016020)	phosphatase binding (GO:0019902)	p.G160D(1)		endometrium(2)|kidney(4)|lung(9)	15						GTGGTTGACGGTCTCACCCGG	0.498																																					p.G160D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G479A	2						.						81.0	76.0	77.0					2																	48686996		2203	4300	6503	48540500	SO:0001583	missense	129285	exon5			AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30595	protein-coding gene	gene with protein product			"""coiled-coil domain containing 128"", ""KLRAQ motif containing 1"""	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.479G>A	2.37:g.48686996G>A	ENSP00000294952:p.Gly160Asp		48540500	NM_001135629	B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Missense_Mutation	SNP	ENST00000294952.8	37	CCDS46278.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.856558	0.51376	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.56	4.62	0.57501	.	0.199237	0.53938	D	0.000047	T	0.43033	0.1229	L	0.46157	1.445	0.51233	D	0.999918	P;P;P;P;B	0.42409	0.501;0.779;0.634;0.493;0.178	B;B;B;B;B	0.36719	0.058;0.231;0.124;0.124;0.079	T	0.31251	-0.9950	9	0.14252	T	0.57	-13.277	16.2181	0.82241	0.0:0.1329:0.8671:0.0	.	160;160;160;160;160	E1B6W7;Q6ZMI0;Q6ZMI0-2;Q6ZMI0-3;Q6ZMI0-4	.;PPR21_HUMAN;.;.;.	D	160	.	ENSP00000281394:G160D	G	+	2	0	KLRAQ1	48540500	1.000000	0.71417	1.000000	0.80357	0.632000	0.37999	4.411000	0.59781	2.778000	0.95560	0.591000	0.81541	GGT		0.498	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251238.4	NM_152994	
NRXN1	9378	broad.mit.edu	37	2	50170929	50170929	+	Splice_Site	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:50170929T>C	ENST00000406316.2	-	21	5515	c.4039A>G	c.(4039-4041)Acc>Gcc	p.T1347A	NRXN1_ENST00000406859.3_Splice_Site_p.T1347A|NRXN1_ENST00000404971.1_Splice_Site_p.T1417A|NRXN1_ENST00000401669.2_Splice_Site_p.T1377A|NRXN1_ENST00000401710.1_Splice_Site_p.T365A|NRXN1_ENST00000402717.3_Splice_Site_p.T1369A|NRXN1_ENST00000405472.3_Splice_Site_p.T1369A|NRXN1_ENST00000342183.5_Splice_Site_p.T312A	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1347					adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.T312A(1)|p.T1347A(1)|p.T1418A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCATCTGTGGTCTGCAAAAGA	0.423																																					p.T312A												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.A934G	2						.						57.0	53.0	54.0					2																	50170929		2202	4300	6502	50024433	SO:0001630	splice_region_variant	9378	exon5			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.4039-1A>G	2.37:g.50170929T>C			50024433	NM_138735	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	CCDS54360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.09|17.09	3.299900|3.299900	0.60195|0.60195	.|.	.|.	ENSG00000179915|ENSG00000179915	ENST00000378262|ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	.|T;T;T;T;T;T;T;T	.|0.70749	.|1.0;2.19;0.2;0.17;-0.51;-0.4;-0.11;0.03	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	.|0.132957	.|0.27302	.|U	.|0.019991	T|T	0.69967|0.69967	0.3170|0.3170	L|L	0.48642|0.48642	1.525|1.525	0.37648|0.37648	D|D	0.922281|0.922281	.|B;B;B;B;B;P	.|0.47106	.|0.149;0.024;0.164;0.171;0.107;0.89	.|B;B;B;B;B;P	.|0.46629	.|0.058;0.061;0.07;0.193;0.065;0.522	T|T	0.72747|0.72747	-0.4200|-0.4200	5|10	.|0.33940	.|T	.|0.23	.|.	15.9579|15.9579	0.79902|0.79902	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|12;1417;312;1347;1369;12	.|B4DIT5;Q9ULB1-3;P58400;F8WB18;A7E294;Q5HYI0	.|.;.;NRX1B_HUMAN;.;.;.	S|A	13|312;266;365;1417;1347;1369;1377;1418;1369;1347	.|ENSP00000341184:T312A;ENSP00000385580:T365A;ENSP00000385142:T1417A;ENSP00000384311:T1347A;ENSP00000434015:T1369A;ENSP00000385017:T1377A;ENSP00000385434:T1369A;ENSP00000385681:T1347A	.|ENSP00000341184:T312A	N|T	-|-	2|1	0|0	NRXN1|NRXN1	50024433|50024433	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	3.052000|3.052000	0.49893|0.49893	2.178000|2.178000	0.69098|0.69098	0.533000|0.533000	0.62120|0.62120	AAC|ACC		0.423	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2		Missense_Mutation
SPTBN1	6711	broad.mit.edu	37	2	54876782	54876782	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:54876782C>T	ENST00000356805.4	+	26	5514	c.5233C>T	c.(5233-5235)Cga>Tga	p.R1745*	SPTBN1_ENST00000333896.5_Nonsense_Mutation_p.R1732*	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1745	Interaction with ANK2.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)	p.R1745*(1)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GGAGTTTGCCCGAGACACCGG	0.517																																					p.R1745X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C5233T	2						.						52.0	53.0	53.0					2																	54876782		2203	4300	6503	54730286	SO:0001587	stop_gained	6711	exon26				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.5233C>T	2.37:g.54876782C>T	ENSP00000349259:p.Arg1745*		54730286	NM_003128	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Nonsense_Mutation	SNP	ENST00000356805.4	37	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	C	47	13.724509	0.99759	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	.	.	.	5.76	4.88	0.63580	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.2566	0.82519	0.1338:0.8662:0.0:0.0	.	.	.	.	X	1745;1732	.	ENSP00000334156:R1732X	R	+	1	2	SPTBN1	54730286	1.000000	0.71417	0.965000	0.40720	0.843000	0.47879	3.866000	0.56040	1.426000	0.47256	0.555000	0.69702	CGA		0.517	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3		
RTN4	57142	broad.mit.edu	37	2	55214697	55214697	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:55214697T>C	ENST00000337526.6	-	4	3394	c.3151A>G	c.(3151-3153)Acc>Gcc	p.T1051A	RTN4_ENST00000357376.3_Missense_Mutation_p.T845A|RTN4_ENST00000402434.2_Missense_Mutation_p.T204A|RTN4_ENST00000394611.2_Missense_Mutation_p.T845A|RTN4_ENST00000405240.1_Missense_Mutation_p.T845A|RTN4_ENST00000394609.2_Missense_Mutation_p.T58A|RTN4_ENST00000357732.4_Missense_Mutation_p.T251A|RTN4_ENST00000354474.6_Missense_Mutation_p.T819A|RTN4_ENST00000317610.7_Missense_Mutation_p.T232A|RTN4_ENST00000404909.1_Missense_Mutation_p.T845A|RTN4_ENST00000486085.1_5'UTR	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	1051	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.T1051A(1)|p.T845A(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						AAGCTGATGGTCACAGAGAGC	0.478																																					p.T1051A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A3151G	2						.						172.0	145.0	154.0					2																	55214697		2203	4300	6503	55068201	SO:0001583	missense	57142	exon4			AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.3151A>G	2.37:g.55214697T>C	ENSP00000337838:p.Thr1051Ala		55068201	NM_020532	O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	37	CCDS42684.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.1|23.1	4.378489|4.378489	0.82682|0.82682	.|.	.|.	ENSG00000115310|ENSG00000115310	ENST00000438462|ENST00000394609;ENST00000405240;ENST00000357376;ENST00000337526;ENST00000317610;ENST00000357732;ENST00000394611;ENST00000404909;ENST00000402434;ENST00000354474	.|T;T;T;T;T;T;T;T;T;T	.|0.50548	.|0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|0.147008	.|0.64402	.|D	.|0.000008	T|T	0.61502|0.61502	0.2352|0.2352	L|L	0.52759|0.52759	1.655|1.655	0.80722|0.80722	D|D	1|1	.|P;D;D;P	.|0.89917	.|0.94;0.959;1.0;0.882	.|P;P;D;P	.|0.87578	.|0.897;0.835;0.998;0.745	T|T	0.64127|0.64127	-0.6480|-0.6480	5|10	.|0.72032	.|D	.|0.01	-14.9894|-14.9894	11.1318|11.1318	0.48351|0.48351	0.1377:0.0:0.0:0.8623|0.1377:0.0:0.0:0.8623	.|.	.|232;251;1051;58	.|Q7L7Q6;Q9NQC3-5;Q9NQC3;Q7L7Q5	.|.;.;RTN4_HUMAN;.	G|A	74|58;845;845;1051;232;251;845;845;204;819	.|ENSP00000378107:T58A;ENSP00000384471:T845A;ENSP00000349944:T845A;ENSP00000337838:T1051A;ENSP00000322147:T232A;ENSP00000350365:T251A;ENSP00000378109:T845A;ENSP00000385650:T845A;ENSP00000384825:T204A;ENSP00000346465:T819A	.|ENSP00000322147:T232A	D|T	-|-	2|1	0|0	RTN4|RTN4	55068201|55068201	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.963000|4.963000	0.63694|0.63694	2.176000|2.176000	0.68965|0.68965	0.528000|0.528000	0.53228|0.53228	GAC|ACC		0.478	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1		
REL	5966	broad.mit.edu	37	2	61149641	61149641	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:61149641T>C	ENST00000295025.8	+	11	2151	c.1831T>C	c.(1831-1833)Tcc>Ccc	p.S611P	REL_ENST00000394479.3_Missense_Mutation_p.S579P	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	611					cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			ATTGAGTGACTCCTTTCCATA	0.338			A		Hodgkin Lymphoma																																p.S611P			Dom	yes		2	2p13-p12	5966	v-rel reticuloendotheliosis viral oncogene homolog (avian)		L	.	.	0			c.T1831C	2						.						42.0	41.0	41.0					2																	61149641		2203	4300	6503	61003145	SO:0001583	missense	5966	exon11			M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.1831T>C	2.37:g.61149641T>C	ENSP00000295025:p.Ser611Pro		61003145	NM_002908	Q17RU2|Q2PNZ7|Q6LDY0	Missense_Mutation	SNP	ENST00000295025.8	37	CCDS1864.1	.	.	.	.	.	.	.	.	.	.	T	6.503	0.460933	0.12342	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	T;T	0.55234	0.53;0.67	5.74	-1.36	0.09085	.	0.769579	0.12307	N	0.480525	T	0.30039	0.0752	N	0.20986	0.625	0.09310	N	1	B;B	0.12630	0.003;0.006	B;B	0.08055	0.002;0.003	T	0.14227	-1.0480	10	0.48119	T	0.1	-23.0817	1.7447	0.02959	0.1225:0.2117:0.1273:0.5385	.	579;611	Q17RU2;Q04864	.;REL_HUMAN	P	611;579	ENSP00000295025:S611P;ENSP00000377989:S579P	ENSP00000295025:S611P	S	+	1	0	REL	61003145	0.002000	0.14202	0.001000	0.08648	0.245000	0.25701	0.526000	0.22971	-0.456000	0.07043	-0.344000	0.07964	TCC		0.338	REL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251576.3	NM_002908	
USP34	9736	broad.mit.edu	37	2	61417447	61417447	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:61417447T>C	ENST00000398571.2	-	78	9908	c.9832A>G	c.(9832-9834)Aac>Gac	p.N3278D	AHSA2_ENST00000394457.3_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3278					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.N3278D(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TCAACTCGGTTGGAGAAATCA	0.403																																					p.N3278D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A9832G	2						.						117.0	109.0	111.0					2																	61417447		1823	4094	5917	61270951	SO:0001583	missense	9736	exon78			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.9832A>G	2.37:g.61417447T>C	ENSP00000381577:p.Asn3278Asp		61270951	NM_014709	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	CCDS42686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	16.63|16.63	3.176774|3.176774	0.57692|0.57692	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571;ENST00000436269|ENST00000411912	T|.	0.63417|.	-0.04|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.224720|.	0.53938|.	D|.	0.000043|.	T|T	0.44540|0.44540	0.1298|0.1298	N|N	0.14661|0.14661	0.345|0.345	0.34059|0.34059	D|D	0.657105|0.657105	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.54833|0.54833	-0.8234|-0.8234	10|5	0.27082|.	T|.	0.32|.	.|.	16.5764|16.5764	0.84681|0.84681	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	3278|.	Q70CQ2|.	UBP34_HUMAN|.	D|R	3126;3043;3278;156|954	ENSP00000381577:N3278D|.	ENSP00000263989:N3126D|.	N|Q	-|-	1|2	0|0	USP34|USP34	61270951|61270951	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	5.461000|5.461000	0.66699|0.66699	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	AAC|CAA		0.403	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4		
ACTR2	10097	broad.mit.edu	37	2	65478169	65478169	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:65478169T>C	ENST00000260641.5	+	4	541	c.384T>C	c.(382-384)ttT>ttC	p.F128F	ACTR2_ENST00000377982.4_Silent_p.F133F|ACTR2_ENST00000542850.1_Silent_p.F73F	NM_005722.3	NP_005713.1	P61160	ARP2_HUMAN	ARP2 actin-related protein 2 homolog (yeast)	128					Arp2/3 complex-mediated actin nucleation (GO:0034314)|asymmetric cell division (GO:0008356)|cellular component movement (GO:0006928)|cilium assembly (GO:0042384)|cytoplasmic transport (GO:0016482)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|meiotic chromosome movement towards spindle pole (GO:0016344)|meiotic cytokinesis (GO:0033206)|spindle localization (GO:0051653)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)|structural constituent of cytoskeleton (GO:0005200)	p.F128F(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						AGGTAATGTTTGAAACTTACC	0.338																																					p.F133F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T399C	2						.						104.0	97.0	100.0					2																	65478169		2203	4300	6503	65331673	SO:0001819	synonymous_variant	10097	exon5			AF006082	CCDS1881.1, CCDS46307.1	2p14	2008-05-20	2001-11-28		ENSG00000138071	ENSG00000138071			169	protein-coding gene	gene with protein product		604221	"""ARP2 (actin-related protein 2, yeast) homolog"""			9230079	Standard	NM_001005386		Approved	ARP2	uc002sdp.3	P61160	OTTHUMG00000129540	ENST00000260641.5:c.384T>C	2.37:g.65478169T>C			65331673	NM_001005386	B2RCP5|D6W5F4|E9PF41|O15142|Q96C82	Silent	SNP	ENST00000260641.5	37	CCDS1881.1																																																																																				0.338	ACTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251730.1	NM_001005386	
SPRED2	200734	broad.mit.edu	37	2	65540669	65540669	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:65540669C>A	ENST00000356388.4	-	6	1412	c.1223G>T	c.(1222-1224)aGg>aTg	p.R408M	SPRED2_ENST00000443619.2_Missense_Mutation_p.R405M	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	408	SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)	p.R408M(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						GCCACAGCACCTGCACATCAC	0.592																																					p.R408M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1223T	2						.						68.0	70.0	69.0					2																	65540669		2203	4300	6503	65394173	SO:0001583	missense	200734	exon6			AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.1223G>T	2.37:g.65540669C>A	ENSP00000348753:p.Arg408Met		65394173	NM_181784	A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Missense_Mutation	SNP	ENST00000356388.4	37	CCDS33211.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.572795	0.86542	.	.	ENSG00000198369	ENST00000356388;ENST00000443619;ENST00000452315	T;T;T	0.65364	-0.15;-0.15;-0.15	5.51	5.51	0.81932	.	0.205916	0.50627	D	0.000105	T	0.73674	0.3617	L	0.53249	1.67	0.49687	D	0.999813	D;P	0.59767	0.986;0.937	P;P	0.58391	0.838;0.806	T	0.75662	-0.3240	10	0.72032	D	0.01	-20.9037	19.4172	0.94706	0.0:1.0:0.0:0.0	.	405;408	E9PEP0;Q7Z698	.;SPRE2_HUMAN	M	408;405;423	ENSP00000348753:R408M;ENSP00000393697:R405M;ENSP00000390595:R423M	ENSP00000348753:R408M	R	-	2	0	SPRED2	65394173	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.777000	0.62361	2.580000	0.87095	0.655000	0.94253	AGG		0.592	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1		
SPRED2	200734	broad.mit.edu	37	2	65541169	65541169	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:65541169C>T	ENST00000356388.4	-	6	912	c.723G>A	c.(721-723)ccG>ccA	p.P241P	SPRED2_ENST00000474228.1_5'Flank|SPRED2_ENST00000443619.2_Silent_p.P238P	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	241	KBD. {ECO:0000255|PROSITE- ProRule:PRU00821}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)	p.P241P(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						CCGAGGGGTCCGGGTACTTGC	0.632																																					p.P241P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G723A	2						.						57.0	56.0	56.0					2																	65541169		2203	4300	6503	65394673	SO:0001819	synonymous_variant	200734	exon6			AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.723G>A	2.37:g.65541169C>T			65394673	NM_181784	A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Silent	SNP	ENST00000356388.4	37	CCDS33211.1																																																																																				0.632	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1		
GKN2	200504	broad.mit.edu	37	2	69172575	69172575	+	Silent	SNP	G	G	A	rs556298042		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:69172575G>A	ENST00000328895.4	-	6	588	c.480C>T	c.(478-480)gtC>gtT	p.V160V	GKN2_ENST00000481498.1_3'UTR	NM_182536.2	NP_872342.2	Q86XP6	GKN2_HUMAN	gastrokine 2	160						extracellular region (GO:0005576)		p.V160V(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						CTCCAGCACCGACATTATCTG	0.353																																					p.V160V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C480T	2						.						80.0	91.0	87.0					2																	69172575		2203	4300	6503	69026079	SO:0001819	synonymous_variant	200504	exon6			AF494509	CCDS33215.1	2p14	2012-10-10			ENSG00000183607	ENSG00000183607		"""BRICHOS domain containing"""	24588	protein-coding gene	gene with protein product	"""down regulated in gastric cancer GDDR"", ""BRICHOS domain containing 1B"""					15774165, 15924415, 16888721	Standard	NM_182536		Approved	TFIZ1, PRO813, VLTI465, blottin, GDDR, BRICD1B	uc002sfa.3	Q86XP6	OTTHUMG00000152655	ENST00000328895.4:c.480C>T	2.37:g.69172575G>A			69026079	NM_182536	Q6UWS6	Silent	SNP	ENST00000328895.4	37	CCDS33215.1																																																																																				0.353	GKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327191.1	NM_182536	
CD207	50489	broad.mit.edu	37	2	71062663	71062663	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:71062663G>A	ENST00000410009.3	-	2	194	c.149C>T	c.(148-150)aCg>aTg	p.T50M		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	50					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)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)	p.T50M(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						CAGGACCAGCGTCAGGCAGAT	0.582																																					p.T50M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C149T	2						.						75.0	83.0	81.0					2																	71062663		2104	4228	6332	70916171	SO:0001583	missense	50489	exon2			AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"""C-type lectin domain containing"", ""CD molecules"""	17935	protein-coding gene	gene with protein product		604862	"""CD207 antigen, langerin"""			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.149C>T	2.37:g.71062663G>A	ENSP00000386378:p.Thr50Met		70916171	NM_015717		Missense_Mutation	SNP	ENST00000410009.3	37		.	.	.	.	.	.	.	.	.	.	G	13.00	2.105571	0.37145	.	.	ENSG00000116031	ENST00000410009	T	0.04502	3.61	4.87	-2.1	0.07210	.	1.520270	0.03774	N	0.260204	T	0.02848	0.0085	N	0.08118	0	0.09310	N	1	B	0.26081	0.141	B	0.12156	0.007	T	0.44498	-0.9324	10	0.23891	T	0.37	.	9.2972	0.37822	0.557:0.0:0.443:0.0	.	50	Q9UJ71	CLC4K_HUMAN	M	50	ENSP00000386378:T50M	ENSP00000386378:T50M	T	-	2	0	CD207	70916171	0.000000	0.05858	0.000000	0.03702	0.440000	0.31957	-0.849000	0.04322	-0.294000	0.08973	0.655000	0.94253	ACG		0.582	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	NM_015717	
MPHOSPH10	10199	broad.mit.edu	37	2	71360658	71360658	+	Silent	SNP	T	T	C	rs542683773		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:71360658T>C	ENST00000244230.2	+	2	1072	c.720T>C	c.(718-720)atT>atC	p.I240I	MPHOSPH10_ENST00000498451.2_Silent_p.I240I	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	240					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)	p.I240I(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						TTGAAGATATTGATTCTGATG	0.343																																					p.I240I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T720C	2						.						72.0	80.0	77.0					2																	71360658		2203	4299	6502	71214166	SO:0001819	synonymous_variant	10199	exon2			X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 106"""	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.720T>C	2.37:g.71360658T>C			71214166	NM_005791	A0AVJ8	Silent	SNP	ENST00000244230.2	37	CCDS1916.1																																																																																				0.343	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2	NM_005791	
ZNF638	27332	broad.mit.edu	37	2	71650099	71650099	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:71650099delA	ENST00000409544.1	+	22	4085	c.3455delA	c.(3454-3456)gaafs	p.E1152fs	ZNF638_ENST00000264447.4_Frame_Shift_Del_p.E1152fs|ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000409407.1_Frame_Shift_Del_p.E92fs	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1152	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.A1154fs*28(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GAAGAAGCTGAAAAAGCAACA	0.423																																					p.E1152fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.3455delA	2						.						101.0	98.0	99.0					2																	71650099		2203	4300	6503	71503607	SO:0001589	frameshift_variant	27332	exon22			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.3455delA	2.37:g.71650099delA	ENSP00000386433:p.Glu1152fs		71503607	NM_014497	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Frame_Shift_Del	DEL	ENST00000409544.1	37	CCDS1917.1																																																																																				0.423	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497	
SLC4A5	57835	broad.mit.edu	37	2	74454961	74454961	+	Missense_Mutation	SNP	G	G	T	rs180817000	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:74454961G>T	ENST00000423644.1	-	25	3110	c.2713C>A	c.(2713-2715)Cgt>Agt	p.R905S	SLC4A5_ENST00000377634.4_Silent_p.G964G|SLC4A5_ENST00000358683.4_Silent_p.G862G|SLC4A5_ENST00000377632.1_Intron|SLC4A5_ENST00000359484.4_Silent_p.G862G|SLC4A5_ENST00000357822.5_Silent_p.G964G|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000346834.4_Intron|SLC4A5_ENST00000394019.2_Silent_p.G964G|SLC4A5_ENST00000483195.1_5'UTR					solute carrier family 4 (sodium bicarbonate cotransporter), member 5									p.G964G(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GGGAGGCCACGCCCATGTAGA	0.577																																					p.G964G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2892A	2						.						38.0	35.0	36.0					2																	74454961		2203	4300	6503	74308469	SO:0001583	missense	57835	exon21			AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000423644.1:c.2713C>A	2.37:g.74454961G>T	ENSP00000395804:p.Arg905Ser		74308469	NM_021196		Missense_Mutation	SNP	ENST00000423644.1	37		.	.	.	.	.	.	.	.	.	.	G	12.64	1.999500	0.35320	.	.	ENSG00000188687	ENST00000423644;ENST00000425249	T;T	0.70164	-0.46;-0.18	5.53	-3.72	0.04411	.	.	.	.	.	T	0.45054	0.1323	.	.	.	0.20403	N	0.999901	B	0.06786	0.001	B	0.06405	0.002	T	0.27502	-1.0072	8	0.38643	T	0.18	.	4.2206	0.10556	0.5976:0.115:0.1708:0.1165	.	867	E7EQT3	.	S	905;867	ENSP00000395804:R905S;ENSP00000405678:R867S	ENSP00000395804:R905S	R	-	1	0	SLC4A5	74308469	0.000000	0.05858	0.993000	0.49108	0.972000	0.66771	-3.389000	0.00488	-0.265000	0.09352	-0.768000	0.03414	CGT		0.577	SLC4A5-204	KNOWN	basic	protein_coding	protein_coding			
WBP1	23559	broad.mit.edu	37	2	74687105	74687105	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:74687105T>A	ENST00000233615.2	+	3	552	c.278T>A	c.(277-279)aTc>aAc	p.I93N	MOGS_ENST00000462443.1_5'Flank|WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000393972.3_Missense_Mutation_p.I127N|WBP1_ENST00000409737.1_Missense_Mutation_p.I90N	NM_012477.3	NP_036609.1	Q96G27	WBP1_HUMAN	WW domain binding protein 1	93							WW domain binding (GO:0050699)	p.I93N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						CAGCGTGAAATCAACTTGTTG	0.567																																					p.I93N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T278A	2						.						74.0	75.0	75.0					2																	74687105		2203	4297	6500	74540613	SO:0001583	missense	23559	exon3			U79457	CCDS1943.1	2p12	2012-04-20			ENSG00000239779	ENSG00000239779			12737	protein-coding gene	gene with protein product		606961				7644498	Standard	NM_012477		Approved	WBP-1	uc002slj.2	Q96G27	OTTHUMG00000129958	ENST00000233615.2:c.278T>A	2.37:g.74687105T>A	ENSP00000233615:p.Ile93Asn		74540613	NM_012477	B2RE02|O95637	Missense_Mutation	SNP	ENST00000233615.2	37	CCDS1943.1	.	.	.	.	.	.	.	.	.	.	T	18.70	3.680988	0.68042	.	.	ENSG00000239779	ENST00000233615;ENST00000393972;ENST00000409737;ENST00000428943	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	T	0.68357	0.2992	L	0.47016	1.485	0.47949	D	0.99955	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	T	0.71368	-0.4614	8	0.87932	D	0	-7.5175	12.0175	0.53321	0.0:0.0:0.0:1.0	.	90;93	B8ZZ95;Q96G27	.;WBP1_HUMAN	N	93;127;90;152	.	ENSP00000233615:I93N	I	+	2	0	WBP1	74540613	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.598000	0.82745	1.935000	0.56089	0.454000	0.30748	ATC		0.567	WBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252221.2	NM_012477	
TTC31	64427	broad.mit.edu	37	2	74718451	74718451	+	Frame_Shift_Del	DEL	C	C	-	rs541931650		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:74718451delC	ENST00000233623.5	+	7	640	c.633delC	c.(631-633)agcfs	p.S211fs	TTC31_ENST00000442235.2_Frame_Shift_Del_p.S67fs|TTC31_ENST00000410003.1_Frame_Shift_Del_p.S211fs|TTC31_ENST00000463189.1_3'UTR	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	211								p.P213fs*46(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GAGATGAGAGCCCCCCATCCA	0.542																																					p.S211fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.633delC	2						.						94.0	103.0	100.0					2																	74718451		1920	4117	6037	74571959	SO:0001589	frameshift_variant	64427	exon7			AK026819	CCDS42701.1	2p13.1	2013-01-11			ENSG00000115282	ENSG00000115282		"""Tetratricopeptide (TTC) repeat domain containing"""	25759	protein-coding gene	gene with protein product						12477932	Standard	NM_022492		Approved	FLJ12788	uc002slt.2	Q49AM3	OTTHUMG00000152887	ENST00000233623.5:c.633delC	2.37:g.74718451delC	ENSP00000233623:p.Ser211fs		74571959	NM_022492	Q4KN40|Q53FD4|Q9H9F7	Frame_Shift_Del	DEL	ENST00000233623.5	37	CCDS42701.1																																																																																				0.542	TTC31-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328422.1	NM_022492	
LOXL3	84695	broad.mit.edu	37	2	74761052	74761052	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:74761052G>A	ENST00000264094.3	-	13	2216	c.2145C>T	c.(2143-2145)tgC>tgT	p.C715C	LOXL3_ENST00000409549.1_Silent_p.C659C|LOXL3_ENST00000409249.1_Silent_p.C433C|LOXL3_ENST00000393937.2_Silent_p.C570C|LOXL3_ENST00000409986.1_Silent_p.C570C	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	715	Lysyl-oxidase like.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)	p.C715C(1)		endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CATCATATTTGCAGTTACATT	0.443																																					p.C715C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2145T	2						.						307.0	265.0	279.0					2																	74761052		2203	4300	6503	74614560	SO:0001819	synonymous_variant	84695	exon13			AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.2145C>T	2.37:g.74761052G>A			74614560	NM_032603	D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Silent	SNP	ENST00000264094.3	37	CCDS1953.1																																																																																				0.443	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603	
GGCX	2677	broad.mit.edu	37	2	85779018	85779018	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:85779018A>G	ENST00000233838.4	-	11	1606	c.1526T>C	c.(1525-1527)cTg>cCg	p.L509P	GGCX_ENST00000473665.1_5'Flank|GGCX_ENST00000430215.3_Missense_Mutation_p.L452P	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	509					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)	p.L509P(1)		endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	CCAGGGAGACAGGTCCATCAA	0.517											OREG0014747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L509P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1526C	2						.						142.0	131.0	135.0					2																	85779018		2203	4300	6503	85632529	SO:0001583	missense	2677	exon11				CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"""vitamin K-dependent gamma-carboxylase"""	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.1526T>C	2.37:g.85779018A>G	ENSP00000233838:p.Leu509Pro	1239	85632529	NM_000821	B4DMC5|E9PEE1|Q14415|Q6GU45	Missense_Mutation	SNP	ENST00000233838.4	37	CCDS1978.1	.	.	.	.	.	.	.	.	.	.	A	19.35	3.811141	0.70797	.	.	ENSG00000115486	ENST00000233838;ENST00000430215	D;D	0.95103	-3.61;-3.52	5.63	5.63	0.86233	.	0.072325	0.56097	D	0.000025	D	0.96941	0.9001	M	0.80746	2.51	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.987	D	0.97362	0.9970	10	0.87932	D	0	-10.5877	12.2424	0.54551	1.0:0.0:0.0:0.0	.	452;325;509	E9PEE1;B4DQW4;P38435	.;.;VKGC_HUMAN	P	509;452	ENSP00000233838:L509P;ENSP00000408045:L452P	ENSP00000233838:L509P	L	-	2	0	GGCX	85632529	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.537000	0.90631	2.137000	0.66172	0.460000	0.39030	CTG		0.517	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252490.3	NM_000821	
RPIA	22934	broad.mit.edu	37	2	89049506	89049506	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:89049506G>A	ENST00000283646.4	+	9	902	c.847G>A	c.(847-849)Gac>Aac	p.D283N		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	283					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|ribose phosphate metabolic process (GO:0019693)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	monosaccharide binding (GO:0048029)|ribose-5-phosphate isomerase activity (GO:0004751)	p.D283N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				AGGTGTGGTGGACACAGGCCT	0.483																																					p.D283N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G847A	2						.						125.0	119.0	121.0					2																	89049506		2024	4216	6240	88830621	SO:0001583	missense	22934	exon9			L35035	CCDS2004.2	2p11.2	2008-07-31	2008-07-31		ENSG00000153574	ENSG00000153574	5.3.1.6		10297	protein-coding gene	gene with protein product	"""ribose 5-phosphate epimerase"""	180430				7758956	Standard	NM_144563		Approved		uc002ste.3	P49247	OTTHUMG00000130333	ENST00000283646.4:c.847G>A	2.37:g.89049506G>A	ENSP00000283646:p.Asp283Asn		88830621	NM_144563	Q541P9|Q96BJ6	Missense_Mutation	SNP	ENST00000283646.4	37	CCDS2004.2	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750236	0.89753	.	.	ENSG00000153574	ENST00000283646;ENST00000543560	T	0.76968	-1.06	5.44	5.44	0.79542	.	0.184337	0.56097	D	0.000021	D	0.87481	0.6188	M	0.78223	2.4	0.52501	D	0.999958	D	0.56035	0.974	P	0.60949	0.881	D	0.88784	0.3273	10	0.87932	D	0	-24.2496	18.8675	0.92298	0.0:0.0:1.0:0.0	.	283	P49247	RPIA_HUMAN	N	283;149	ENSP00000283646:D283N	ENSP00000283646:D283N	D	+	1	0	RPIA	88830621	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.948000	0.75965	2.561000	0.86390	0.563000	0.77884	GAC		0.483	RPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252683.2		
ACTR1B	10120	broad.mit.edu	37	2	98275867	98275867	+	Missense_Mutation	SNP	C	C	T	rs372634354		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:98275867C>T	ENST00000289228.5	-	4	479	c.263G>A	c.(262-264)cGc>cAc	p.R88H		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	88					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)	p.R88H(1)		endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						CTGCCAGATGCGTTCCATGTC	0.642																																					p.R88H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G263A	2						.	C	HIS/ARG	0,4406		0,0,2203	237.0	197.0	211.0		263	5.2	1.0	2		211	1,8599		0,1,4299	no	missense	ACTR1B	NM_005735.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	88/377	98275867	1,13005	2203	4300	6503	97642299	SO:0001583	missense	10120	exon4			X82207	CCDS2033.1	2q11.1-q11.2	2008-05-20	2001-11-28		ENSG00000115073	ENSG00000115073			168	protein-coding gene	gene with protein product		605144	"""ARP1 (actin-related protein 1, yeast) homolog B (centractin beta)"""	CTRN2		7696711, 10343100	Standard	NM_005735		Approved		uc002syb.2	P42025	OTTHUMG00000130549	ENST00000289228.5:c.263G>A	2.37:g.98275867C>T	ENSP00000289228:p.Arg88His		97642299	NM_005735	D3DVH2|Q53SK5|Q9BRB7	Missense_Mutation	SNP	ENST00000289228.5	37	CCDS2033.1	.	.	.	.	.	.	.	.	.	.	.	17.61	3.433374	0.62844	0.0	1.16E-4	ENSG00000115073	ENST00000289228	D	0.94576	-3.46	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.92044	0.7479	L	0.45137	1.4	0.54753	D	0.999987	B	0.20052	0.041	B	0.19946	0.027	D	0.89616	0.3845	10	0.87932	D	0	.	16.1821	0.81915	0.0:1.0:0.0:0.0	.	88	P42025	ACTY_HUMAN	H	88	ENSP00000289228:R88H	ENSP00000289228:R88H	R	-	2	0	ACTR1B	97642299	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.068000	0.71201	2.427000	0.82271	0.555000	0.69702	CGC		0.642	ACTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252973.1	NM_005735	
LYG2	254773	broad.mit.edu	37	2	99861855	99861855	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:99861855A>G	ENST00000409238.1	-	3	271	c.251T>C	c.(250-252)aTc>aCc	p.I84T	LYG2_ENST00000409679.1_Missense_Mutation_p.I84T|LYG2_ENST00000423800.1_Missense_Mutation_p.I84T|LYG2_ENST00000333017.2_Missense_Mutation_p.I84T			Q86SG7	LYG2_HUMAN	lysozyme G-like 2	84					cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)	p.I84T(1)		large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						GACTTCTTTGATCAGAGTCTG	0.512																																					p.I84T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T251C	2						.						106.0	96.0	99.0					2																	99861855		2203	4300	6503	99228287	SO:0001583	missense	254773	exon4			AF323919	CCDS2042.1	2q11.2	2008-02-05			ENSG00000185674	ENSG00000185674			29615	protein-coding gene	gene with protein product						8889548, 12574869	Standard	NM_175735		Approved	LYGH	uc002szw.1	Q86SG7	OTTHUMG00000130643	ENST00000409238.1:c.251T>C	2.37:g.99861855A>G	ENSP00000386939:p.Ile84Thr		99228287	NM_175735	Q496G2|Q53RW0	Missense_Mutation	SNP	ENST00000409238.1	37	CCDS2042.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.974250	0.74246	.	.	ENSG00000185674	ENST00000409238;ENST00000333017;ENST00000409679;ENST00000423306	.	.	.	5.78	5.78	0.91487	Lytic transglycosylase-like, catalytic (1);Lysozyme-like domain (1);	0.000000	0.64402	D	0.000005	T	0.81898	0.4920	M	0.89715	3.055	0.50313	D	0.999862	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.999	D	0.85212	0.1021	8	.	.	.	-4.7898	12.4959	0.55927	1.0:0.0:0.0:0.0	.	84;84;84	Q496G2;C9J4J0;Q86SG7	.;.;LYG2_HUMAN	T	84	.	.	I	-	2	0	LYG2	99228287	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.734000	0.74801	2.216000	0.71823	0.454000	0.30748	ATC		0.512	LYG2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330307.1	NM_175735	
EIF5B	9669	broad.mit.edu	37	2	99995485	99995485	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:99995485C>T	ENST00000289371.6	+	11	2048	c.1846C>T	c.(1846-1848)Cgg>Tgg	p.R616W		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	616					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)	p.R616W(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						tttCTAGAAACGGCGACTTGA	0.328																																					p.R616W	Colon(162;2388 2567 2705 3444)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1846T	2						.						48.0	42.0	44.0					2																	99995485		1795	4062	5857	99361917	SO:0001583	missense	9669	exon11			AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.1846C>T	2.37:g.99995485C>T	ENSP00000289371:p.Arg616Trp		99361917	NM_015904	O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	ENST00000289371.6	37	CCDS42721.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.286713	0.80803	.	.	ENSG00000158417	ENST00000289371	T	0.51817	0.69	5.93	4.04	0.47022	.	.	.	.	.	T	0.63908	0.2551	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.64812	-0.6319	8	.	.	.	-10.591	8.5547	0.33474	0.2635:0.6668:0.0:0.0697	.	616	O60841	IF2P_HUMAN	W	616	ENSP00000289371:R616W	.	R	+	1	2	EIF5B	99361917	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.661000	0.54503	1.524000	0.49035	0.655000	0.94253	CGG		0.328	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904	
DNAH7	56171	broad.mit.edu	37	2	196737030	196737033	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	ACAA	ACAA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:196737030_196737033delACAA	ENST00000312428.6	-	40	6674_6677	c.6574_6577delTTGT	c.(6574-6579)ttgtcafs	p.LS2192fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2192					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.L2192fs*11(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCTGGTCTTGACAAACAAACACCT	0.382																																					p.2192_2193del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.6574_6577del	2						.																																			196445278	SO:0001589	frameshift_variant	56171	exon40			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.6574_6577delTTGT	2.37:g.196737034_196737037delACAA	ENSP00000311273:p.Leu2192fs		196445275	NM_018897	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Frame_Shift_Del	DEL	ENST00000312428.6	37	CCDS42794.1																																																																																				0.382	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
SP140	11262	broad.mit.edu	37	2	231159025	231159025	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:231159025delA	ENST00000392045.3	+	21	2122	c.2008delA	c.(2008-2010)aaafs	p.K672fs	SP140_ENST00000486687.2_Frame_Shift_Del_p.K596fs|SP140_ENST00000420434.3_Frame_Shift_Del_p.K645fs|SP140_ENST00000417495.3_Frame_Shift_Del_p.K558fs|SP140_ENST00000343805.6_Frame_Shift_Del_p.K612fs|SP140_ENST00000350136.5_Frame_Shift_Del_p.K541fs	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	672					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.K672fs*4(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ACGTTACAGGAAAAAAAAGGT	0.373																																					p.K670fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2008delA	2						.						114.0	112.0	113.0					2																	231159025		1845	4092	5937	230867269	SO:0001589	frameshift_variant	11262	exon21			U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.2008delA	2.37:g.231159025delA	ENSP00000375899:p.Lys672fs		230867269	NM_007237	E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Frame_Shift_Del	DEL	ENST00000392045.3	37	CCDS42831.1																																																																																				0.373	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237	
FARP2	9855	broad.mit.edu	37	2	242415309	242415309	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr2:242415309A>G	ENST00000264042.3	+	19	2339	c.2169A>G	c.(2167-2169)ctA>ctG	p.L723L	MIR3133_ENST00000583157.1_RNA	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	723	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L723L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		CCACCACACTACAGCACATTC	0.587																																					p.L723L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2169G	2						.						99.0	81.0	87.0					2																	242415309		2203	4300	6503	242063982	SO:0001819	synonymous_variant	9855	exon19			AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.2169A>G	2.37:g.242415309A>G			242063982	NM_014808	B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Silent	SNP	ENST00000264042.3	37	CCDS33424.1																																																																																				0.587	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1		
FANCD2	2177	broad.mit.edu	37	3	10106444	10106444	+	Missense_Mutation	SNP	G	G	A	rs190777319		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:10106444G>A	ENST00000419585.1	+	23	2214	c.2053G>A	c.(2053-2055)Gga>Aga	p.G685R	FANCD2_ENST00000383807.1_Missense_Mutation_p.G685R|FANCD2_ENST00000383806.1_Missense_Mutation_p.G685R|FANCD2_ENST00000287647.3_Missense_Mutation_p.G685R			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	685					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)	p.G685R(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AGCACTGTACGGACTGGAAGA	0.493			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				g|||	1	0.000199681	0.0008	0.0	5008	,	,		21259	0.0		0.0	False		,,,				2504	0.0				p.G685R		yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""Fanconi anemia, complementation group D2"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2053A	3						.						98.0	104.0	102.0					3																	10106444		2203	4300	6503	10081444	SO:0001583	missense	2177	exon23	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2053G>A	3.37:g.10106444G>A	ENSP00000398754:p.Gly685Arg		10081444	NM_033084	Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	CCDS33696.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	15.10	2.732163	0.48939	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.65	4.72	0.59763	.	0.257624	0.42053	D	0.000764	T	0.51432	0.1674	L	0.56769	1.78	0.22001	N	0.999423	D;D	0.67145	0.996;0.996	P;P	0.54270	0.747;0.747	T	0.47195	-0.9136	10	0.36615	T	0.2	.	7.5595	0.27843	0.0865:0.1677:0.7458:0.0	.	685;685	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	R	685	ENSP00000287647:G685R;ENSP00000373318:G685R;ENSP00000373317:G685R;ENSP00000398754:G685R	ENSP00000287647:G685R	G	+	1	0	FANCD2	10081444	1.000000	0.71417	0.919000	0.36401	0.074000	0.17049	3.928000	0.56506	2.843000	0.97960	0.585000	0.79938	GGA		0.493	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1		
FILIP1L	11259	broad.mit.edu	37	3	99569087	99569087	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:99569087C>T	ENST00000354552.3	-	5	1903	c.1433G>A	c.(1432-1434)cGg>cAg	p.R478Q	FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.R238Q|FILIP1L_ENST00000471562.1_Missense_Mutation_p.R238Q|FILIP1L_ENST00000331335.5_Missense_Mutation_p.R478Q|CMSS1_ENST00000496116.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.R54Q	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	478						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.R478Q(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						CTTTTCTAGCCGACTTTCAAT	0.333																																					p.R478Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1433A	3						.						89.0	82.0	84.0					3																	99569087		1831	4069	5900	101051777	SO:0001583	missense	11259	exon5				CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.1433G>A	3.37:g.99569087C>T	ENSP00000346560:p.Arg478Gln		101051777	NM_182909	B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	ENST00000354552.3	37	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.721383	0.48728	.	.	ENSG00000168386	ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T;T	0.40756	1.02;1.81;1.86;1.02;1.86;1.9	5.61	4.63	0.57726	.	0.169818	0.28119	N	0.016539	T	0.28366	0.0701	L	0.49778	1.585	0.32965	D	0.521541	B;B	0.25048	0.117;0.071	B;B	0.09377	0.004;0.002	T	0.24835	-1.0149	10	0.16420	T	0.52	-9.5993	3.6946	0.08360	0.0:0.6544:0.0:0.3456	.	478;478	Q4L180-2;Q4L180	.;FIL1L_HUMAN	Q	478;54;238;478;238;224;238	ENSP00000346560:R478Q;ENSP00000417774:R54Q;ENSP00000419642:R238Q;ENSP00000327880:R478Q;ENSP00000373192:R238Q;ENSP00000419874:R238Q	ENSP00000327880:R478Q	R	-	2	0	FILIP1L	101051777	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.080000	0.64437	2.630000	0.89119	0.655000	0.94253	CGG		0.333	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890	
IRAK2	3656	broad.mit.edu	37	3	10280571	10280571	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:10280571A>T	ENST00000256458.4	+	12	1703	c.1613A>T	c.(1612-1614)gAt>gTt	p.D538V		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	538					activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)	p.D538V(2)		breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						TCCAGCCTTGATGCCTCCTCC	0.602																																					p.D538V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1613T	3						.						79.0	74.0	76.0					3																	10280571		2203	4300	6503	10255571	SO:0001583	missense	3656	exon12			AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.1613A>T	3.37:g.10280571A>T	ENSP00000256458:p.Asp538Val		10255571	NM_001570	B4DQZ6|Q08AG6|Q5K546	Missense_Mutation	SNP	ENST00000256458.4	37	CCDS33697.1	.	.	.	.	.	.	.	.	.	.	A	11.91	1.779103	0.31502	.	.	ENSG00000134070	ENST00000256458	T	0.53640	0.61	5.39	0.287	0.15714	.	0.665573	0.13600	N	0.375955	T	0.29223	0.0727	L	0.39898	1.24	0.09310	N	1	B	0.22346	0.068	B	0.15870	0.014	T	0.17167	-1.0378	10	0.28530	T	0.3	-0.137	0.7918	0.01059	0.4877:0.1681:0.1826:0.1615	.	538	O43187	IRAK2_HUMAN	V	538	ENSP00000256458:D538V	ENSP00000256458:D538V	D	+	2	0	IRAK2	10255571	0.000000	0.05858	0.000000	0.03702	0.384000	0.30261	0.286000	0.18902	-0.172000	0.10779	-0.365000	0.07479	GAT		0.602	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339623.1		
TFG	10342	broad.mit.edu	37	3	100467319	100467319	+	Missense_Mutation	SNP	C	C	T	rs146078119		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:100467319C>T	ENST00000240851.4	+	8	1487	c.1147C>T	c.(1147-1149)Cgt>Tgt	p.R383C	TFG_ENST00000481203.1_3'UTR|TFG_ENST00000490574.1_Missense_Mutation_p.R383C|TFG_ENST00000476228.1_Missense_Mutation_p.R379C|TFG_ENST00000418917.2_Missense_Mutation_p.R379C	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	383					cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)	p.R383C(1)	TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						TCCTTATGCGCGTAACCGTCC	0.527			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""								C|||	1	0.000199681	0.0	0.0	5008	,	,		18085	0.0		0.001	False		,,,				2504	0.0				p.R383C			Dom	yes		3	3q11-q12	10342	TRK-fused gene		"""E, L"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1147T	3						.	C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	87.0	82.0	84.0		1147,1147,1135,1147	5.3	1.0	3	dbSNP_134	84	0,8600		0,0,4300	no	missense,missense,missense,missense	TFG	NM_001007565.2,NM_001195478.1,NM_001195479.1,NM_006070.5	180,180,180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	383/401,383/401,379/397,383/401	100467319	1,13005	2203	4300	6503	101950009	SO:0001583	missense	10342	exon8			BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.1147C>T	3.37:g.100467319C>T	ENSP00000240851:p.Arg383Cys		101950009	NM_006070	D3DN49|G5E9V1|Q15656|Q969I2	Missense_Mutation	SNP	ENST00000240851.4	37	CCDS2939.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	20.3	3.958730	0.74016	2.27E-4	0.0	ENSG00000114354	ENST00000418917;ENST00000490574;ENST00000240851;ENST00000476228	T;T;T;T	0.53857	0.6;0.61;0.61;0.6	6.16	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.43942	0.1270	L	0.29908	0.895	0.80722	D	1	B;B	0.18013	0.025;0.014	B;B	0.14578	0.011;0.005	T	0.34976	-0.9807	10	0.72032	D	0.01	-8.7315	15.5347	0.75993	0.0:0.9344:0.0:0.0656	.	379;383	G5E9V1;Q92734	.;TFG_HUMAN	C	379;383;383;379	ENSP00000397182:R379C;ENSP00000419960:R383C;ENSP00000240851:R383C;ENSP00000417952:R379C	ENSP00000240851:R383C	R	+	1	0	TFG	101950009	1.000000	0.71417	0.991000	0.47740	0.983000	0.72400	7.003000	0.76310	1.631000	0.50456	0.650000	0.86243	CGT		0.527	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353242.1	NM_006070	
ZBTB11	27107	broad.mit.edu	37	3	101370318	101370318	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:101370318G>T	ENST00000312938.4	-	11	3434	c.2854C>A	c.(2854-2856)Ctt>Att	p.L952I		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	952					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.L952I(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGAAACTGAAGGGTGTCTTTT	0.433																																					p.L952I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2854A	3						.						154.0	147.0	149.0					3																	101370318		2203	4300	6503	102853008	SO:0001583	missense	27107	exon11			U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.2854C>A	3.37:g.101370318G>T	ENSP00000326200:p.Leu952Ile		102853008	NM_014415	Q2NKP9	Missense_Mutation	SNP	ENST00000312938.4	37	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	G	30	5.050301	0.93740	.	.	ENSG00000066422	ENST00000312938	T	0.13538	2.58	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.27278	0.0669	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.03335	-1.1047	10	0.72032	D	0.01	-11.7173	19.6327	0.95717	0.0:0.0:1.0:0.0	.	952	O95625	ZBT11_HUMAN	I	952	ENSP00000326200:L952I	ENSP00000326200:L952I	L	-	1	0	ZBTB11	102853008	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.646000	0.89796	0.555000	0.69702	CTT		0.433	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415	
NXPE3	91775	broad.mit.edu	37	3	101525947	101525947	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:101525947C>T	ENST00000491511.2	+	6	1855	c.899C>T	c.(898-900)aCt>aTt	p.T300I	NXPE3_ENST00000422132.1_Missense_Mutation_p.T300I|NXPE3_ENST00000477909.1_Missense_Mutation_p.T300I|NXPE3_ENST00000273347.5_Missense_Mutation_p.T300I	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	300						extracellular region (GO:0005576)		p.T300I(1)									GATTGGGTAACTGTGATTCCC	0.358																																					p.T300I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C899T	3						.						125.0	131.0	129.0					3																	101525947		2203	4300	6503	103008637	SO:0001583	missense	91775	exon6			AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member C"""	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.899C>T	3.37:g.101525947C>T	ENSP00000417485:p.Thr300Ile		103008637	NM_001134456	A8K0X4|D3DN53|Q7Z2S8	Missense_Mutation	SNP	ENST00000491511.2	37	CCDS2945.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.760576	0.31137	.	.	ENSG00000144815	ENST00000273347;ENST00000491511;ENST00000477909;ENST00000422132	T;T;T;T	0.12569	2.67;2.67;2.67;2.67	5.58	4.71	0.59529	.	0.317552	0.37857	N	0.001916	T	0.09949	0.0244	L	0.33485	1.01	0.44432	D	0.997358	B	0.06786	0.001	B	0.04013	0.001	T	0.14531	-1.0469	10	0.35671	T	0.21	-1.0666	6.6428	0.22919	0.0:0.6995:0.0:0.3005	.	300	Q969Y0	FA55C_HUMAN	I	300	ENSP00000273347:T300I;ENSP00000417485:T300I;ENSP00000418369:T300I;ENSP00000396421:T300I	ENSP00000273347:T300I	T	+	2	0	FAM55C	103008637	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.562000	0.36353	1.375000	0.46248	0.557000	0.71058	ACT		0.358	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2	NM_145037	
SLC6A11	6538	broad.mit.edu	37	3	10980004	10980004	+	Silent	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:10980004G>T	ENST00000254488.2	+	14	1881	c.1815G>T	c.(1813-1815)cgG>cgT	p.R605R		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	605					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)	p.R605R(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	TGAGCCCACGGATGGTGACAG	0.557																																					p.R605R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1815T	3						.						134.0	122.0	126.0					3																	10980004		2203	4300	6503	10955004	SO:0001819	synonymous_variant	6538	exon14			S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"""Solute carriers"""	11044	protein-coding gene	gene with protein product	"""GABA transporter 3"""	607952	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 11"""			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.1815G>T	3.37:g.10980004G>T			10955004	NM_014229	B2R6U6|Q8IYC9	Silent	SNP	ENST00000254488.2	37	CCDS2602.1																																																																																				0.557	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229	
BBX	56987	broad.mit.edu	37	3	107492268	107492268	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:107492268A>C	ENST00000325805.8	+	11	1987	c.1700A>C	c.(1699-1701)gAg>gCg	p.E567A	BBX_ENST00000415149.2_Missense_Mutation_p.E567A|BBX_ENST00000416476.2_Intron|BBX_ENST00000402543.1_Missense_Mutation_p.E567A|BBX_ENST00000406780.1_Missense_Mutation_p.E567A			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	567					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E567A(1)		breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			ATTTCTGGTGAGACACCAGAG	0.463																																					p.E567A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1700C	3						.						90.0	86.0	87.0					3																	107492268		2203	4300	6503	108974958	SO:0001583	missense	56987	exon11			AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.1700A>C	3.37:g.107492268A>C	ENSP00000319974:p.Glu567Ala		108974958	NM_001142568	A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	A	17.58	3.425771	0.62733	.	.	ENSG00000114439	ENST00000415149;ENST00000402543;ENST00000325805;ENST00000406780	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	6.07	4.86	0.63082	.	0.339614	0.34411	N	0.003998	T	0.60090	0.2242	L	0.29908	0.895	0.45452	D	0.998425	P;P;D	0.61697	0.917;0.952;0.99	B;B;D	0.72982	0.254;0.437;0.979	T	0.63853	-0.6543	10	0.87932	D	0	-17.7991	13.0999	0.59214	0.8665:0.1335:0.0:0.0	.	567;567;567	C9JA69;Q8WY36;Q8WY36-2	.;BBX_HUMAN;.	A	567	ENSP00000408358:E567A;ENSP00000385317:E567A;ENSP00000319974:E567A;ENSP00000385530:E567A	ENSP00000319974:E567A	E	+	2	0	BBX	108974958	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	4.999000	0.63934	2.330000	0.79161	0.477000	0.44152	GAG		0.463	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235	
SLC6A1	6529	broad.mit.edu	37	3	11076346	11076346	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:11076346G>A	ENST00000287766.4	+	15	2078	c.1657G>A	c.(1657-1659)Gcc>Acc	p.A553T	SLC6A1_ENST00000536032.1_Missense_Mutation_p.A375T	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	553					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)	p.A553T(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	CGGGTACATGGCCTACATGTT	0.582																																					p.A553T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1657A	3						.						159.0	134.0	143.0					3																	11076346		2203	4300	6503	11051346	SO:0001583	missense	6529	exon15				CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.1657G>A	3.37:g.11076346G>A	ENSP00000287766:p.Ala553Thr		11051346	NM_003042	Q8N4K8	Missense_Mutation	SNP	ENST00000287766.4	37	CCDS2603.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.666382	0.67814	.	.	ENSG00000157103	ENST00000287766;ENST00000536032	T;T	0.74421	-0.84;-0.84	5.77	5.77	0.91146	.	0.276731	0.30565	N	0.009342	T	0.67192	0.2867	L	0.35341	1.055	0.46874	D	0.999234	B	0.27971	0.196	B	0.30943	0.122	T	0.66976	-0.5787	10	0.66056	D	0.02	.	14.777	0.69738	0.0:0.0:0.8556:0.1444	.	553	P30531	SC6A1_HUMAN	T	553;375	ENSP00000287766:A553T;ENSP00000445171:A375T	ENSP00000287766:A553T	A	+	1	0	SLC6A1	11051346	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.506000	0.60428	2.723000	0.93209	0.650000	0.86243	GCC		0.582	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042	
MYH15	22989	broad.mit.edu	37	3	108183561	108183561	+	Missense_Mutation	SNP	G	G	A	rs78421779	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:108183561G>A	ENST00000273353.3	-	16	1771	c.1715C>T	c.(1714-1716)tCg>tTg	p.S572L	MYH15_ENST00000495753.2_5'Flank	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	572	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.S572L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GAGATGAACCGACTTTCCAAA	0.448													G|||	14	0.00279553	0.0098	0.0014	5008	,	,		2063	0.0		0.0	False		,,,				2504	0.0				p.S572L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1715T	3						.	G	LEU/SER	35,3699		0,35,1832	131.0	126.0	128.0		1715	2.6	0.0	3	dbSNP_131	128	0,8232		0,0,4116	yes	missense	MYH15	NM_014981.1	145	0,35,5948	AA,AG,GG		0.0,0.9373,0.2925	probably-damaging	572/1947	108183561	35,11931	1867	4116	5983	109666251	SO:0001583	missense	22989	exon16			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.1715C>T	3.37:g.108183561G>A	ENSP00000273353:p.Ser572Leu		109666251	NM_014981		Missense_Mutation	SNP	ENST00000273353.3	37	CCDS43127.1	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	G	17.30	3.355798	0.61293	0.009373	0.0	ENSG00000144821	ENST00000273353	T	0.72394	-0.65	5.53	2.57	0.30868	Myosin head, motor domain (2);	.	.	.	.	T	0.81959	0.4933	H	0.98276	4.19	0.31184	N	0.701747	D	0.89917	1.0	D	0.83275	0.996	D	0.83872	0.0274	9	0.87932	D	0	.	9.866	0.41142	0.2373:0.0:0.7627:0.0	.	572	Q9Y2K3	MYH15_HUMAN	L	572	ENSP00000273353:S572L	ENSP00000273353:S572L	S	-	2	0	MYH15	109666251	0.482000	0.25948	0.003000	0.11579	0.890000	0.51754	0.858000	0.27845	0.221000	0.20879	0.655000	0.94253	TCG		0.448	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988	
CCDC80	151887	broad.mit.edu	37	3	112358410	112358410	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:112358410G>A	ENST00000206423.3	-	2	1296	c.343C>T	c.(343-345)Cgt>Tgt	p.R115C	CCDC80_ENST00000475181.1_5'UTR|CCDC80_ENST00000439685.2_Missense_Mutation_p.R115C	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	115					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.R115C(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						ATCATCTCACGCGGAGAGCCC	0.607																																					p.R115C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C343T	3						.						80.0	77.0	78.0					3																	112358410		2203	4300	6503	113841100	SO:0001583	missense	151887	exon2			AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.343C>T	3.37:g.112358410G>A	ENSP00000206423:p.Arg115Cys		113841100	NM_199511	D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	G	7.964	0.747688	0.15710	.	.	ENSG00000091986	ENST00000206423;ENST00000439685	T;T	0.47869	0.83;0.83	5.35	2.29	0.28610	.	0.304457	0.26130	N	0.026161	T	0.39145	0.1067	L	0.27053	0.805	0.09310	N	0.99999	D;D;D	0.71674	0.998;0.998;0.996	P;P;P	0.53861	0.736;0.72;0.549	T	0.18777	-1.0326	10	0.62326	D	0.03	-5.0669	2.621	0.04916	0.1011:0.1408:0.2919:0.4662	.	126;115;115	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	C	115	ENSP00000206423:R115C;ENSP00000411814:R115C	ENSP00000206423:R115C	R	-	1	0	CCDC80	113841100	0.082000	0.21442	0.016000	0.15963	0.178000	0.23041	1.577000	0.36515	0.786000	0.33708	0.650000	0.86243	CGT		0.607	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511	
ZNF80	7634	broad.mit.edu	37	3	113955340	113955340	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:113955340G>A	ENST00000482457.2	-	1	1085	c.582C>T	c.(580-582)tgC>tgT	p.C194C	RP11-553L6.2_ENST00000481773.1_RNA|RP11-553L6.2_ENST00000493033.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	194					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.C194C(2)		NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				AGGTCTTCCCGCACTCACTGC	0.473																																					p.C194C	GBM(23;986 1114 21716)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C582T	3						.						109.0	115.0	113.0					3																	113955340		2203	4300	6503	115438030	SO:0001819	synonymous_variant	7634	exon1			X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"""Zinc fingers, C2H2-type"""	13155	protein-coding gene	gene with protein product		194553	"""zinc finger protein 80 (pT17)"""			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.582C>T	3.37:g.113955340G>A			115438030	NM_007136	Q6NSW4|Q6NT14	Silent	SNP	ENST00000482457.2	37	CCDS2979.1																																																																																				0.473	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136	
TIGIT	201633	broad.mit.edu	37	3	114014686	114014686	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:114014686C>G	ENST00000486257.1	+	3	613	c.356C>G	c.(355-357)aCt>aGt	p.T119S	TIGIT_ENST00000481065.1_Missense_Mutation_p.T186S|TIGIT_ENST00000383671.3_Missense_Mutation_p.T119S			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	119	Ig-like V-type.				negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|positive regulation of interleukin-10 production (GO:0032733)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.T119S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						GGGACGTACACTGGGAGAATC	0.542																																					p.T119S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C356G	3						.						78.0	75.0	76.0					3																	114014686		2203	4300	6503	115497376	SO:0001583	missense	201633	exon2			AK097192	CCDS2980.1	3q13.31	2013-01-11	2008-10-13	2008-10-13	ENSG00000181847	ENSG00000181847		"""Immunoglobulin superfamily / V-set domain containing"""	26838	protein-coding gene	gene with protein product		612859	"""V-set and immunoglobulin domain containing 9"", ""V-set and transmembrane domain containing 3"""	VSIG9, VSTM3		19011627	Standard	NM_173799		Approved	FLJ39873, DKFZp667A205	uc003ebg.2	Q495A1	OTTHUMG00000159331	ENST00000486257.1:c.356C>G	3.37:g.114014686C>G	ENSP00000419085:p.Thr119Ser		115497376	NM_173799	Q495A3|Q5JPD8|Q6MZS2|Q8N877	Missense_Mutation	SNP	ENST00000486257.1	37	CCDS2980.1	.	.	.	.	.	.	.	.	.	.	C	4.433	0.080084	0.08533	.	.	ENSG00000181847	ENST00000461158;ENST00000481065;ENST00000486257;ENST00000383671;ENST00000484319	T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12	4.71	-3.96	0.04106	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.711164	0.13151	N	0.409907	T	0.11452	0.0279	N	0.01352	-0.895	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.28364	-1.0046	10	0.19147	T	0.46	-0.9364	5.6793	0.17765	0.3589:0.2744:0.3667:0.0	.	119	Q495A1	TIGIT_HUMAN	S	98;186;119;119;98	ENSP00000418917:T98S;ENSP00000420552:T186S;ENSP00000419085:T119S;ENSP00000373167:T119S;ENSP00000419706:T98S	ENSP00000373167:T119S	T	+	2	0	TIGIT	115497376	0.028000	0.19301	0.005000	0.12908	0.030000	0.12068	-0.271000	0.08572	-0.782000	0.04541	-1.193000	0.01689	ACT		0.542	TIGIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354690.1	NM_173799	
MAATS1	89876	broad.mit.edu	37	3	119445069	119445069	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:119445069G>A	ENST00000273390.5	+	7	811	c.734G>A	c.(733-735)cGc>cAc	p.R245H		NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	245						mitochondrion (GO:0005739)		p.R245H(2)									GAAAGAGCCCGCGAGAAGCGT	0.542																																					p.R245H												.	.	2	Substitution - Missense(2)	large_intestine(1)|NS(1)	c.G734A	3						.						49.0	48.0	48.0					3																	119445069		2203	4300	6503	120927759	SO:0001583	missense	89876	exon7			AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.734G>A	3.37:g.119445069G>A	ENSP00000273390:p.Arg245His		120927759	NM_033364	A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	G	32	5.136014	0.94517	.	.	ENSG00000183833	ENST00000273390	T	0.42513	0.97	5.62	5.62	0.85841	.	0.052838	0.85682	D	0.000000	T	0.71609	0.3360	M	0.87097	2.86	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;0.998	T	0.75608	-0.3259	10	0.87932	D	0	-13.208	20.0377	0.97569	0.0:0.0:1.0:0.0	.	245;6;183;245;245	Q7Z4T9;Q9UFB4;Q7Z4T9-3;Q4G0Y0;Q7Z4T9-7	AAT1_HUMAN;.;.;.;.	H	245	ENSP00000273390:R245H	ENSP00000273390:R245H	R	+	2	0	C3orf15	120927759	1.000000	0.71417	0.996000	0.52242	0.957000	0.61999	6.021000	0.70832	2.822000	0.97130	0.650000	0.86243	CGC		0.542	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364	
GSK3B	2932	broad.mit.edu	37	3	119631553	119631553	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:119631553A>G	ENST00000264235.8	-	6	1695	c.713T>C	c.(712-714)aTa>aCa	p.I238T	GSK3B_ENST00000316626.5_Missense_Mutation_p.I238T	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	238	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell migration (GO:0016477)|cellular response to interleukin-3 (GO:0036016)|cellular response to mechanical stimulus (GO:0071260)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|ER overload response (GO:0006983)|establishment of cell polarity (GO:0030010)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hippocampus development (GO:0021766)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|myoblast fusion (GO:0007520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of type B pancreatic cell development (GO:2000077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein binding (GO:0032092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|protein localization to microtubule (GO:0035372)|protein phosphorylation (GO:0006468)|re-entry into mitotic cell cycle (GO:0000320)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of microtubule-based process (GO:0032886)|regulation of neuronal synaptic plasticity (GO:0048168)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|superior temporal gyrus development (GO:0071109)	beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|kinase activity (GO:0016301)|NF-kappaB binding (GO:0051059)|p53 binding (GO:0002039)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II transcription factor binding (GO:0001085)|tau-protein kinase activity (GO:0050321)|ubiquitin protein ligase binding (GO:0031625)	p.I238T(2)		endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	GTACTTACCTATACTAGAGGT	0.358																																					p.I238T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T713C	3						.						59.0	60.0	60.0					3																	119631553		2203	4299	6502	121114243	SO:0001583	missense	2932	exon6			BC012760	CCDS2996.1, CCDS54628.1	3q13.3	2008-02-15			ENSG00000082701	ENSG00000082701			4617	protein-coding gene	gene with protein product		605004				10486203	Standard	NM_002093		Approved		uc003edm.3	P49841	OTTHUMG00000133765	ENST00000264235.8:c.713T>C	3.37:g.119631553A>G	ENSP00000264235:p.Ile238Thr		121114243	NM_002093	D3DN89|Q9BWH3|Q9UL47	Missense_Mutation	SNP	ENST00000264235.8	37	CCDS54628.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.461375	0.84317	.	.	ENSG00000082701	ENST00000264235;ENST00000316626	T;T	0.42513	0.97;0.97	5.27	5.27	0.74061	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	0.61324	0.2338	M	0.68593	2.085	0.80722	D	1	P;P	0.50943	0.94;0.926	D;P	0.63283	0.913;0.859	T	0.65047	-0.6263	10	0.87932	D	0	-11.6424	15.347	0.74346	1.0:0.0:0.0:0.0	.	238;238	P49841;P49841-2	GSK3B_HUMAN;.	T	238	ENSP00000264235:I238T;ENSP00000324806:I238T	ENSP00000264235:I238T	I	-	2	0	GSK3B	121114243	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.722000	0.91452	2.212000	0.71576	0.460000	0.39030	ATA		0.358	GSK3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258240.2		
GTF2E1	2960	broad.mit.edu	37	3	120500304	120500304	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:120500304A>G	ENST00000283875.5	+	5	1400	c.1307A>G	c.(1306-1308)gAc>gGc	p.D436G		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	436					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.D436G(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		ATGTTTGAGGACCTCTTTGAG	0.423																																					p.D436G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1307G	3						.						143.0	145.0	144.0					3																	120500304		2203	4300	6503	121982994	SO:0001583	missense	2960	exon5			S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"""General transcription factors"""	4650	protein-coding gene	gene with protein product		189962	"""general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"""			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.1307A>G	3.37:g.120500304A>G	ENSP00000283875:p.Asp436Gly		121982994	NM_005513	Q16103	Missense_Mutation	SNP	ENST00000283875.5	37	CCDS3002.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.978523	0.74360	.	.	ENSG00000153767	ENST00000283875	T	0.50813	0.73	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.56108	0.1963	M	0.68317	2.08	0.80722	D	1	P	0.44877	0.845	P	0.49922	0.626	T	0.52689	-0.8542	10	0.25106	T	0.35	0.3096	14.7379	0.69430	1.0:0.0:0.0:0.0	.	436	P29083	T2EA_HUMAN	G	436	ENSP00000283875:D436G	ENSP00000283875:D436G	D	+	2	0	GTF2E1	121982994	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.693000	0.74582	2.270000	0.75569	0.528000	0.53228	GAC		0.423	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356770.1	NM_005513	
HCLS1	3059	broad.mit.edu	37	3	121353075	121353075	+	Silent	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:121353075C>A	ENST00000314583.3	-	10	973	c.882G>T	c.(880-882)ctG>ctT	p.L294L	HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Silent_p.L257L	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	294					actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)	p.L294L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		TTTTCTTGGGCAGTGGGGCCG	0.592																																					p.L294L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G882T	3						.						82.0	78.0	79.0					3																	121353075		2203	4300	6503	122835765	SO:0001819	synonymous_variant	3059	exon10				CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"""cortactin-like"""	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.882G>T	3.37:g.121353075C>A			122835765	NM_005335	B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Silent	SNP	ENST00000314583.3	37	CCDS3003.1																																																																																				0.592	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355144.1	NM_005335	
IQCB1	9657	broad.mit.edu	37	3	121500667	121500667	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:121500667G>C	ENST00000310864.6	-	13	1547	c.1333C>G	c.(1333-1335)Cga>Gga	p.R445G	IQCB1_ENST00000349820.6_Missense_Mutation_p.R312G	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	445					cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)	p.R445G(1)		NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		TGGAGTCCTCGCCAAGGAGCA	0.418																																					p.R445G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1333G	3						.						146.0	137.0	140.0					3																	121500667		2203	4300	6503	122983357	SO:0001583	missense	9657	exon13			D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"""nephrocystin-5"""	609237	"""IQ calmodulin-binding motif containing 1"""			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.1333C>G	3.37:g.121500667G>C	ENSP00000311505:p.Arg445Gly		122983357	NM_001023570	Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Missense_Mutation	SNP	ENST00000310864.6	37	CCDS33837.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.441895	0.25900	.	.	ENSG00000173226	ENST00000310864;ENST00000349820	T;T	0.79141	-1.24;-1.24	4.61	3.74	0.42951	.	0.569360	0.17640	N	0.167080	T	0.65217	0.2670	L	0.29908	0.895	0.33070	D	0.535202	B;B	0.26512	0.023;0.151	B;B	0.24974	0.011;0.057	T	0.69903	-0.5019	10	0.51188	T	0.08	0.222	8.7599	0.34667	0.1029:0.0:0.8971:0.0	.	445;312	Q15051;Q15051-2	IQCB1_HUMAN;.	G	445;312	ENSP00000311505:R445G;ENSP00000323756:R312G	ENSP00000311505:R445G	R	-	1	2	IQCB1	122983357	1.000000	0.71417	0.971000	0.41717	0.546000	0.35178	4.081000	0.57627	1.298000	0.44778	0.591000	0.81541	CGA		0.418	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250573.1	NM_014642	
PARP14	54625	broad.mit.edu	37	3	122419198	122419198	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:122419198G>A	ENST00000474629.2	+	6	2063	c.1797G>A	c.(1795-1797)aaG>aaA	p.K599K		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	599					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.K436K(1)|p.K599K(1)		NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TAAATTATAAGCGCATTGAAG	0.398																																					p.K599K												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1797A	3						.						36.0	34.0	35.0					3																	122419198		1867	4094	5961	123901888	SO:0001819	synonymous_variant	54625	exon6			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.1797G>A	3.37:g.122419198G>A			123901888	NM_017554	B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Silent	SNP	ENST00000474629.2	37	CCDS46894.1																																																																																				0.398	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554	
PARP14	54625	broad.mit.edu	37	3	122439111	122439111	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:122439111C>A	ENST00000474629.2	+	15	5083	c.4817C>A	c.(4816-4818)cCt>cAt	p.P1606H	PARP14_ENST00000475640.1_3'UTR	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1606	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.P1443H(1)|p.P1606H(1)		NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GTTGACATCCCTGCACACTGG	0.463																																					p.P1606H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4817A	3						.						98.0	95.0	96.0					3																	122439111		2028	4191	6219	123921801	SO:0001583	missense	54625	exon15			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.4817C>A	3.37:g.122439111C>A	ENSP00000418194:p.Pro1606His		123921801	NM_017554	B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	C	33	5.226793	0.95173	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000310290;ENST00000398157	T	0.41400	1.0	5.06	5.06	0.68205	Poly(ADP-ribose) polymerase, catalytic domain (1);	0.000000	0.64402	D	0.000003	T	0.76205	0.3955	H	0.96691	3.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.84488	0.0609	10	0.87932	D	0	.	15.9641	0.79952	0.0:1.0:0.0:0.0	.	1606;1606	Q460N5-4;Q460N5	.;PAR14_HUMAN	H	1606;1525;209;602	ENSP00000418194:P1606H	ENSP00000310633:P209H	P	+	2	0	PARP14	123921801	0.990000	0.36364	0.146000	0.22360	0.851000	0.48451	5.253000	0.65452	2.632000	0.89209	0.650000	0.86243	CCT		0.463	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554	
MYLK	4638	broad.mit.edu	37	3	123452614	123452614	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:123452614T>C	ENST00000475616.1	-	7	1228	c.1229A>G	c.(1228-1230)gAt>gGt	p.D410G	MYLK_ENST00000360772.3_Missense_Mutation_p.D410G|MYLK_ENST00000346322.5_Missense_Mutation_p.D410G|MYLK_ENST00000360304.3_Missense_Mutation_p.D410G|MYLK_ENST00000359169.1_Missense_Mutation_p.D410G			Q15746	MYLK_HUMAN	myosin light chain kinase	410					actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)	p.D410G(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GAATGCTGAATCCCTCTGGCC	0.547																																					p.D410G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1229G	3						.						148.0	149.0	149.0					3																	123452614		2203	4300	6503	124935304	SO:0001583	missense	4638	exon10			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.1229A>G	3.37:g.123452614T>C	ENSP00000418335:p.Asp410Gly		124935304	NM_053025	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	T	1.563	-0.536085	0.04082	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.67345	-0.26;-0.21;-0.26;-0.16;-0.21	5.43	3.05	0.35203	.	.	.	.	.	T	0.49355	0.1552	N	0.24115	0.695	0.20638	N	0.999873	B;B;B;B;B	0.28055	0.199;0.0;0.199;0.0;0.126	B;B;B;B;B	0.30572	0.075;0.001;0.117;0.001;0.034	T	0.35724	-0.9777	9	0.28530	T	0.3	.	6.3465	0.21353	0.0:0.0816:0.1597:0.7587	.	410;410;410;410;410	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	G	410	ENSP00000354004:D410G;ENSP00000353452:D410G;ENSP00000352088:D410G;ENSP00000320622:D410G;ENSP00000418335:D410G	ENSP00000320622:D410G	D	-	2	0	MYLK	124935304	0.159000	0.22864	0.305000	0.25099	0.065000	0.16274	2.293000	0.43558	0.500000	0.27991	-0.313000	0.08912	GAT		0.547	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025	
KALRN	8997	broad.mit.edu	37	3	124393325	124393325	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:124393325G>A	ENST00000291478.5	+	16	2129	c.1966G>A	c.(1966-1968)Gtc>Atc	p.V656I	KALRN_ENST00000459915.1_Missense_Mutation_p.V444I|KALRN_ENST00000393496.1_Missense_Mutation_p.V693I|KALRN_ENST00000462213.1_5'Flank|KALRN_ENST00000428018.2_Missense_Mutation_p.V624I|KALRN_ENST00000360013.3_Missense_Mutation_p.V2353I	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2352					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V2353I(1)|p.V656I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGTCCTCGCCGTCAACCAGCA	0.597																																					p.V2353I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G7057A	3						.						103.0	78.0	86.0					3																	124393325		2203	4300	6503	125876015	SO:0001583	missense	8997	exon49			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.1966G>A	3.37:g.124393325G>A	ENSP00000291478:p.Val656Ile		125876015	NM_001024660	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000291478.5	37	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	G	8.854	0.945341	0.18356	.	.	ENSG00000160145	ENST00000360013;ENST00000393496;ENST00000291478;ENST00000428018;ENST00000459915	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	5.17	2.36	0.29203	Src homology-3 domain (2);	0.313070	0.29218	N	0.012785	T	0.16428	0.0395	N	0.00926	-1.1	0.29041	N	0.885072	B;B;B;B	0.10296	0.001;0.0;0.003;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.12837	-1.0532	10	0.34782	T	0.22	.	6.993	0.24765	0.459:0.0:0.541:0.0	.	444;656;693;2352	E7EUZ8;C9JQ37;O60229-5;O60229	.;.;.;KALRN_HUMAN	I	2353;693;656;624;444	ENSP00000353109:V2353I;ENSP00000377134:V693I;ENSP00000291478:V656I;ENSP00000402419:V624I;ENSP00000420318:V444I	ENSP00000291478:V656I	V	+	1	0	KALRN	125876015	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.778000	0.47726	0.766000	0.33244	0.650000	0.86243	GTC		0.597	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947	
OSBPL11	114885	broad.mit.edu	37	3	125271087	125271087	+	Missense_Mutation	SNP	G	G	A	rs578002517		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:125271087G>A	ENST00000296220.5	-	9	1881	c.1592C>T	c.(1591-1593)gCg>gTg	p.A531V		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	531					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)	p.A531V(1)		NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						CCAGACATGCGCATTTACACA	0.373													G|||	1	0.000199681	0.0	0.0	5008	,	,		16486	0.0		0.0	False		,,,				2504	0.001				p.A531V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1592T	3						.						127.0	118.0	121.0					3																	125271087		2203	4300	6503	126753777	SO:0001583	missense	114885	exon9			AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.1592C>T	3.37:g.125271087G>A	ENSP00000296220:p.Ala531Val		126753777	NM_022776	A8K9I7	Missense_Mutation	SNP	ENST00000296220.5	37	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822167	0.71028	.	.	ENSG00000144909	ENST00000296220	T	0.29917	1.55	4.71	2.93	0.34026	.	0.065888	0.64402	D	0.000003	T	0.40595	0.1123	M	0.75085	2.285	0.36857	D	0.888201	D	0.56746	0.977	P	0.49252	0.604	T	0.53222	-0.8469	10	0.62326	D	0.03	-10.1343	10.9992	0.47596	0.151:0.0:0.849:0.0	.	531	Q9BXB4	OSB11_HUMAN	V	531	ENSP00000296220:A531V	ENSP00000296220:A531V	A	-	2	0	OSBPL11	126753777	1.000000	0.71417	0.304000	0.25085	0.954000	0.61252	7.635000	0.83286	0.609000	0.30018	0.591000	0.81541	GCG		0.373	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	NM_022776	
ALDH1L1	10840	broad.mit.edu	37	3	125876312	125876312	+	Silent	SNP	G	G	A	rs200607977		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:125876312G>A	ENST00000393434.2	-	4	751	c.402C>T	c.(400-402)atC>atT	p.I134I	ALDH1L1_ENST00000393431.2_Silent_p.I134I|ALDH1L1_ENST00000413612.1_5'Flank|ALDH1L1_ENST00000455064.2_5'UTR|U1_ENST00000606575.1_RNA|ALDH1L1_ENST00000472186.1_Silent_p.I134I|ALDH1L1_ENST00000273450.3_Silent_p.I144I|ALDH1L1_ENST00000452905.2_Intron	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	134	GART.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCGCCCAGAAGATGGAAAACC	0.582																																					p.I134I												.	.	0			c.C402T	3						.						101.0	102.0	102.0					3																	125876312		2203	4300	6503	127359002	SO:0001819	synonymous_variant	10840	exon4			AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.402C>T	3.37:g.125876312G>A			127359002	NM_012190	B4DG36|E9PBX3|Q68CS1	Silent	SNP	ENST00000393434.2	37	CCDS3034.1																																																																																				0.582	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190	
CCDC37	348807	broad.mit.edu	37	3	126153065	126153065	+	Missense_Mutation	SNP	G	G	A	rs138829390		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:126153065G>A	ENST00000352312.1	+	15	1568	c.1469G>A	c.(1468-1470)cGg>cAg	p.R490Q	CCDC37_ENST00000393425.1_Missense_Mutation_p.R491Q|CCDC37_ENST00000505024.1_Missense_Mutation_p.R491Q|CCDC37_ENST00000506204.1_3'UTR	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	490								p.R490Q(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GATGTGTACCGGCACTGCACC	0.612													g|||	1	0.000199681	0.0	0.0	5008	,	,		19254	0.001		0.0	False		,,,				2504	0.0				p.R490Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1469A	3						.	A	GLN/ARG	2,4404	2.1+/-5.4	0,2,2201	57.0	51.0	53.0		1469	-5.2	0.0	3	dbSNP_134	53	0,8600		0,0,4300	no	missense	CCDC37	NM_182628.2	43	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	490/612	126153065	2,13004	2203	4300	6503	127635755	SO:0001583	missense	348807	exon15			AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.1469G>A	3.37:g.126153065G>A	ENSP00000344749:p.Arg490Gln		127635755	NM_182628	D3DNA8|Q494V1|Q494V4|Q8N838	Missense_Mutation	SNP	ENST00000352312.1	37	CCDS3037.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	6.208	0.406476	0.11754	4.54E-4	0.0	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	T;T;T	0.33865	1.39;1.39;1.39	5.08	-5.23	0.02798	.	0.612590	0.17772	N	0.162546	T	0.27169	0.0666	L	0.56769	1.78	0.09310	N	0.999997	B;B	0.30033	0.266;0.174	B;B	0.19946	0.027;0.012	T	0.01762	-1.1279	10	0.29301	T	0.29	-10.2297	13.2939	0.60286	0.6207:0.0:0.3793:0.0	.	491;490	Q494V2-2;Q494V2	.;CCD37_HUMAN	Q	490;491;491	ENSP00000344749:R490Q;ENSP00000377076:R491Q;ENSP00000423046:R491Q	ENSP00000344749:R490Q	R	+	2	0	CCDC37	127635755	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	-0.124000	0.10595	-1.930000	0.01056	-1.888000	0.00539	CGG		0.612	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628	
IQSEC1	9922	broad.mit.edu	37	3	12949980	12949980	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:12949980T>C	ENST00000273221.4	-	12	2882	c.2666A>G	c.(2665-2667)cAg>cGg	p.Q889R		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	889					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.Q889R(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCTAGAGCACTGGGACATGCT	0.642																																					p.Q889R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2666G	3						.						67.0	73.0	71.0					3																	12949980		2203	4300	6503	12924980	SO:0001583	missense	9922	exon12			BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"""brefeldin A-resistant ARF-GEF2"""	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.2666A>G	3.37:g.12949980T>C	ENSP00000273221:p.Gln889Arg		12924980	NM_014869	O94863|Q96D85	Missense_Mutation	SNP	ENST00000273221.4	37	CCDS33703.1	.	.	.	.	.	.	.	.	.	.	T	19.09	3.760380	0.69763	.	.	ENSG00000144711	ENST00000273221;ENST00000435445;ENST00000429247	T;T	0.50001	0.76;0.76	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.48352	0.1495	.	.	.	0.51482	D	0.999928	B;P;B	0.50943	0.23;0.94;0.23	B;P;B	0.52267	0.082;0.694;0.082	T	0.36553	-0.9743	9	0.17832	T	0.49	.	10.7877	0.46415	0.0:0.0:0.1588:0.8412	.	875;875;889	E9PG60;C9JMG9;Q6DN90	.;.;IQEC1_HUMAN	R	889;875;875	ENSP00000273221:Q889R;ENSP00000402299:Q875R	ENSP00000273221:Q889R	Q	-	2	0	IQSEC1	12924980	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.969000	0.63735	1.870000	0.54199	0.533000	0.62120	CAG		0.642	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2	NM_014869	
KBTBD12	166348	broad.mit.edu	37	3	127641912	127641912	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:127641912G>A	ENST00000405109.1	+	2	475	c.8G>A	c.(7-9)tGc>tAc	p.C3Y	KBTBD12_ENST00000343941.4_5'Flank|KBTBD12_ENST00000405256.1_Missense_Mutation_p.C3Y|KBTBD12_ENST00000407609.3_Intron			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	3								p.C3Y(2)		endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						ATCATGGAGTGCAAGATTGAG	0.358																																					p.C3Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G8A	3						.						51.0	50.0	51.0					3																	127641912		1835	4079	5914	129124602	SO:0001583	missense	166348	exon1				CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"""BTB/POZ domain containing"""	25731	protein-coding gene	gene with protein product			"""kelch domain containing 6"""	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.8G>A	3.37:g.127641912G>A	ENSP00000385957:p.Cys3Tyr		129124602	NM_207335	B5MCC6|Q6ZRK1	Missense_Mutation	SNP	ENST00000405109.1	37	CCDS33848.2	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.879226	0.00537	.	.	ENSG00000187715	ENST00000405109;ENST00000405256	T;T	0.74842	-0.88;-0.88	5.72	-4.9	0.03094	BTB/POZ fold (1);	.	.	.	.	T	0.54498	0.1862	L	0.38175	1.15	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.40346	-0.9568	9	0.12103	T	0.63	.	5.8246	0.18546	0.4631:0.0:0.2577:0.2792	.	3	Q3ZCT8	KBTBC_HUMAN	Y	3	ENSP00000385957:C3Y;ENSP00000385879:C3Y	ENSP00000385957:C3Y	C	+	2	0	KBTBD12	129124602	0.000000	0.05858	0.089000	0.20774	0.919000	0.55068	-1.439000	0.02414	-1.092000	0.03062	0.460000	0.39030	TGC		0.358	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318682.1	NM_207335	
RUVBL1	8607	broad.mit.edu	37	3	127831743	127831743	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:127831743G>A	ENST00000322623.5	-	3	448	c.349C>T	c.(349-351)Cgc>Tgc	p.R117C	RUVBL1_ENST00000417360.1_Missense_Mutation_p.R117C|RUVBL1_ENST00000464873.1_Missense_Mutation_p.R57C	NM_003707.2	NP_003698.1	Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	117					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Ino80 complex (GO:0031011)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)	p.R117C(2)		endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		ATGGCCCTGCGGAAGTTCTCC	0.512																																					p.R117C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C349T	3						.						145.0	133.0	137.0					3																	127831743		2203	4300	6503	129314433	SO:0001583	missense	8607	exon3			AF070735	CCDS3047.1	3q21	2013-09-12	2013-09-12		ENSG00000175792	ENSG00000175792		"""INO80 complex subunits"", ""ATPases / AAA-type"""	10474	protein-coding gene	gene with protein product	"""pontin"", ""INO80 complex subunit H"""	603449	"""RuvB (E coli homolog)-like 1"", ""RuvB-like 1 (E. coli)"", ""RuvB-like AAA ATPase"""			9774387, 9588198	Standard	NM_003707		Approved	TIP49, NMP238, RVB1, TIP49a, Pontin52, ECP54, TIH1, Rvb1, INO80H	uc003ekh.3	Q9Y265	OTTHUMG00000159658	ENST00000322623.5:c.349C>T	3.37:g.127831743G>A	ENSP00000318297:p.Arg117Cys		129314433	NM_003707	B2R5S0|P82276|Q1KMR0|Q53HK5|Q53HL7|Q53Y27|Q9BSX9	Missense_Mutation	SNP	ENST00000322623.5	37	CCDS3047.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.111641	0.77210	.	.	ENSG00000175792	ENST00000464873;ENST00000322623;ENST00000417360	T;T;T	0.71341	-0.43;-0.56;-0.13	5.79	4.84	0.62591	TIP49, C-terminal (1);ATPase, AAA+ type, core (1);	0.045924	0.85682	D	0.000000	D	0.90256	0.6953	H	0.98407	4.225	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	D	0.93586	0.6917	10	0.87932	D	0	-29.8555	16.0471	0.80727	0.0:0.0:0.8099:0.1901	.	117;117;57	Q9Y265-2;Q9Y265;E7ETR0	.;RUVB1_HUMAN;.	C	57;117;117	ENSP00000420738:R57C;ENSP00000318297:R117C;ENSP00000393755:R117C	ENSP00000318297:R117C	R	-	1	0	RUVBL1	129314433	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.321000	0.51999	2.735000	0.93741	0.591000	0.81541	CGC		0.512	RUVBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356728.2		
COPG1	22820	broad.mit.edu	37	3	128987453	128987453	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:128987453G>A	ENST00000314797.6	+	17	1868	c.1764G>A	c.(1762-1764)gaG>gaA	p.E588E		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	588					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)	p.E588E(1)									CCATGGCAGAGCAGAGAACAG	0.552																																					p.E588E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1764A	3						.						67.0	65.0	66.0					3																	128987453		2203	4300	6503	130470143	SO:0001819	synonymous_variant	22820	exon17			AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"""coat protein gamma-cop"""	615525	"""coatomer protein complex, subunit gamma"""	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.1764G>A	3.37:g.128987453G>A			130470143	NM_016128	A8K6M8|B3KMF6|Q54AC4	Silent	SNP	ENST00000314797.6	37	CCDS33851.1																																																																																				0.552	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1	NM_016128	
IFT122	55764	broad.mit.edu	37	3	129238530	129238530	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:129238530A>G	ENST00000348417.2	+	29	3668	c.3591A>G	c.(3589-3591)tcA>tcG	p.S1197S	IFT122_ENST00000347300.2_Silent_p.S1138S|IFT122_ENST00000296266.3_Silent_p.S1248S|IFT122_ENST00000431818.2_Silent_p.S1047S|IFT122_ENST00000349441.2_Silent_p.S1087S|IFT122_ENST00000507564.1_Silent_p.S1190S|IFT122_ENST00000440957.2_Silent_p.S988S|IFT122_ENST00000504021.1_Silent_p.S1074S	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	1197					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)		p.S1248S(1)		breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						ACTTCCGCTCACTGCTGCCTG	0.622																																					p.S1087S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A3261G	3						.						138.0	111.0	120.0					3																	129238530		2203	4300	6503	130721220	SO:0001819	synonymous_variant	55764	exon26			AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.3591A>G	3.37:g.129238530A>G			130721220	NM_052990	B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Silent	SNP	ENST00000348417.2	37	CCDS3061.1																																																																																				0.622	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262	
COL6A6	131873	broad.mit.edu	37	3	130293096	130293096	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:130293096C>T	ENST00000358511.6	+	7	3305	c.3274C>T	c.(3274-3276)Cca>Tca	p.P1092S	COL6A6_ENST00000453409.2_Missense_Mutation_p.P1092S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1092	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.P1092S(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TTACTTCAGGCCAGACATGGG	0.517																																					p.P1092S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3274T	3						.						96.0	99.0	98.0					3																	130293096		2026	4184	6210	131775786	SO:0001583	missense	131873	exon7			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.3274C>T	3.37:g.130293096C>T	ENSP00000351310:p.Pro1092Ser		131775786	NM_001102608	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	C	1.448	-0.565745	0.03910	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.81659	-1.52;-1.52	5.28	2.33	0.28932	von Willebrand factor, type A (3);	0.105878	0.42682	N	0.000669	T	0.62768	0.2455	L	0.31845	0.965	0.09310	N	1	B	0.10296	0.003	B	0.15052	0.012	T	0.38672	-0.9650	10	0.13470	T	0.59	.	2.4258	0.04459	0.2604:0.4609:0.1266:0.1521	.	1092	A6NMZ7	CO6A6_HUMAN	S	1092	ENSP00000351310:P1092S;ENSP00000399236:P1092S	ENSP00000351310:P1092S	P	+	1	0	COL6A6	131775786	0.000000	0.05858	0.025000	0.17156	0.024000	0.10985	0.029000	0.13666	0.242000	0.21303	0.655000	0.94253	CCA		0.517	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608	
PIK3R4	30849	broad.mit.edu	37	3	130435309	130435309	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:130435309A>G	ENST00000356763.3	-	9	2819	c.2262T>C	c.(2260-2262)ggT>ggC	p.G754G		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	754					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.G754G(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						CGGGAAGAGAACCATTTCGTT	0.433																																					p.G754G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2262C	3						.						108.0	109.0	109.0					3																	130435309		2203	4300	6503	131917999	SO:0001819	synonymous_variant	30849	exon9			Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.2262T>C	3.37:g.130435309A>G			131917999	NM_014602	Q2TBF4	Silent	SNP	ENST00000356763.3	37	CCDS3067.1																																																																																				0.433	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602	
DNAJC13	23317	broad.mit.edu	37	3	132249860	132249860	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:132249860C>T	ENST00000260818.6	+	55	6792	c.6544C>T	c.(6544-6546)Cgt>Tgt	p.R2182C		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	2182					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)		p.R2182C(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AATCCTGTGCCGTTCTTCAGT	0.403																																					p.R2182C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6544T	3						.						167.0	153.0	158.0					3																	132249860		2203	4300	6503	133732550	SO:0001583	missense	23317	exon55			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.6544C>T	3.37:g.132249860C>T	ENSP00000260818:p.Arg2182Cys		133732550	NM_015268	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.531315	0.85706	.	.	ENSG00000138246	ENST00000260818;ENST00000538066	T	0.18174	2.23	5.96	5.09	0.68999	Armadillo-like helical (1);	0.220729	0.46145	N	0.000308	T	0.24431	0.0592	L	0.44542	1.39	0.58432	D	0.999999	D	0.63880	0.993	P	0.50192	0.634	T	0.01386	-1.1368	10	0.87932	D	0	.	15.0246	0.71659	0.0:0.932:0.0:0.068	.	2182	O75165	DJC13_HUMAN	C	2182;829	ENSP00000260818:R2182C	ENSP00000260818:R2182C	R	+	1	0	DNAJC13	133732550	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.963000	0.70372	1.528000	0.49103	0.655000	0.94253	CGT		0.403	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268	
ACAD11	84129	broad.mit.edu	37	3	132358365	132358365	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:132358365G>A	ENST00000264990.6	-	5	1644	c.673C>T	c.(673-675)Cta>Tta	p.L225L	ACAD11_ENST00000481970.2_Silent_p.L225L|ACAD11_ENST00000355458.3_Silent_p.L225L|ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000545291.1_5'UTR	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	225					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)	p.L225L(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						ATGTTATCTAGTCTGAAATCT	0.398																																					p.L225L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C673T	3						.						97.0	95.0	95.0					3																	132358365		2203	4300	6503	133841055	SO:0001819	synonymous_variant	84129	exon5			BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"""acyl-Coenzyme A dehydrogenase family, member 11"""				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.673C>T	3.37:g.132358365G>A			133841055	NM_032169	Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Silent	SNP	ENST00000264990.6	37	CCDS3074.1																																																																																				0.398	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	NM_032169	
ACAD11	84129	broad.mit.edu	37	3	132378517	132378517	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:132378517C>T	ENST00000264990.6	-	1	1050	c.79G>A	c.(79-81)Gcc>Acc	p.A27T	ACAD11_ENST00000481970.2_Missense_Mutation_p.A27T|ACAD11_ENST00000355458.3_Missense_Mutation_p.A27T|UBA5_ENST00000264991.4_Intron|UBA5_ENST00000473651.1_5'Flank|UBA5_ENST00000356232.4_5'UTR|ACAD11_ENST00000489991.1_5'UTR|ACAD11_ENST00000545291.1_5'UTR|UBA5_ENST00000494238.2_5'Flank|UBA5_ENST00000493720.2_5'Flank	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	27					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)	p.A27T(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						TTTAGGTAGGCCTCCAGGGAC	0.597											OREG0015804	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A27T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G79A	3						.						96.0	97.0	96.0					3																	132378517		2203	4300	6503	133861207	SO:0001583	missense	84129	exon1			BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"""acyl-Coenzyme A dehydrogenase family, member 11"""				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.79G>A	3.37:g.132378517C>T	ENSP00000264990:p.Ala27Thr	1594	133861207	NM_032169	Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Missense_Mutation	SNP	ENST00000264990.6	37	CCDS3074.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842789	0.51057	.	.	ENSG00000240303	ENST00000355458;ENST00000264990;ENST00000481970	T;T;T	0.32988	1.43;1.43;1.43	5.86	0.659	0.17861	Protein kinase-like domain (1);	.	.	.	.	T	0.22360	0.0539	L	0.50333	1.59	0.42855	D	0.994096	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.06391	-1.0829	8	.	.	.	.	5.4042	0.16312	0.0:0.3578:0.2164:0.4258	.	27;27	D6RDI8;Q709F0	.;ACD11_HUMAN	T	27	ENSP00000347636:A27T;ENSP00000264990:A27T;ENSP00000420907:A27T	.	A	-	1	0	ACAD11	133861207	0.036000	0.19791	0.961000	0.40146	0.907000	0.53573	-0.312000	0.08113	0.086000	0.17137	-0.140000	0.14226	GCC		0.597	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	NM_032169	
A4GNT	51146	broad.mit.edu	37	3	137843669	137843669	+	Missense_Mutation	SNP	G	G	T	rs376190351		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:137843669G>T	ENST00000236709.3	-	3	661	c.460C>A	c.(460-462)Cgc>Agc	p.R154S		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	154					carbohydrate metabolic process (GO:0005975)|glycoprotein biosynthetic process (GO:0009101)|negative regulation of epithelial cell proliferation (GO:0050680)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylglucosaminyltransferase activity (GO:0008375)	p.R154S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						ATGGCCAGGCGGGATGCATCC	0.572																																					p.R154S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C460A	3						.	G	SER/ARG	1,4405	2.1+/-5.4	0,1,2202	78.0	74.0	75.0		460	4.3	1.0	3		75	0,8600		0,0,4300	no	missense	A4GNT	NM_016161.2	110	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	probably-damaging	154/341	137843669	1,13005	2203	4300	6503	139326359	SO:0001583	missense	51146	exon3			AF141315	CCDS3097.1	3p14.3	2010-12-14			ENSG00000118017	ENSG00000118017			17968	protein-coding gene	gene with protein product						10430883	Standard	NM_016161		Approved	alpha4GnT	uc003ers.2	Q9UNA3	OTTHUMG00000159820	ENST00000236709.3:c.460C>A	3.37:g.137843669G>T	ENSP00000236709:p.Arg154Ser		139326359	NM_016161	Q0VDK1|Q0VDK2	Missense_Mutation	SNP	ENST00000236709.3	37	CCDS3097.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.565199	0.65651	2.27E-4	0.0	ENSG00000118017	ENST00000236709	D	0.97888	-4.59	5.27	4.31	0.51392	Glycosyltransferase, DXD sugar-binding motif (1);	0.000000	0.64402	D	0.000002	D	0.98937	0.9639	H	0.95437	3.67	0.46260	D	0.99895	D	0.89917	1.0	D	0.97110	1.0	D	0.98869	1.0765	10	0.87932	D	0	-6.1903	10.6822	0.45821	0.0:0.0:0.5672:0.4328	.	154	Q9UNA3	A4GCT_HUMAN	S	154	ENSP00000236709:R154S	ENSP00000236709:R154S	R	-	1	0	A4GNT	139326359	1.000000	0.71417	0.975000	0.42487	0.556000	0.35491	2.715000	0.47210	2.458000	0.83093	0.563000	0.77884	CGC		0.572	A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357557.1	NM_016161	
PRR23B	389151	broad.mit.edu	37	3	138738987	138738987	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:138738987C>T	ENST00000329447.5	-	1	781	c.517G>A	c.(517-519)Ggc>Agc	p.G173S	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	173								p.G173S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCGGCTGAGCCGGTTGGGGAG	0.652																																					p.G173S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G517A	3						.						31.0	39.0	36.0					3																	138738987		2201	4298	6499	140221677	SO:0001583	missense	389151	exon1			BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.517G>A	3.37:g.138738987C>T	ENSP00000328768:p.Gly173Ser		140221677	NM_001013650	B2RNV9	Missense_Mutation	SNP	ENST00000329447.5	37	CCDS33868.1	.	.	.	.	.	.	.	.	.	.	C	7.872	0.728442	0.15507	.	.	ENSG00000184814	ENST00000329447	.	.	.	3.14	1.31	0.21738	.	1.005240	0.08014	N	0.990804	T	0.33789	0.0875	L	0.50333	1.59	0.09310	N	1	P	0.52061	0.95	P	0.46208	0.507	T	0.19451	-1.0305	9	0.24483	T	0.36	.	5.6876	0.17811	0.0:0.7401:0.0:0.2599	.	173	Q6ZRT6	PR23B_HUMAN	S	173	.	ENSP00000328768:G173S	G	-	1	0	PRR23B	140221677	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.127000	0.10547	0.360000	0.24265	0.456000	0.33151	GGC		0.652	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1	NM_001013650	
CLSTN2	64084	broad.mit.edu	37	3	140284987	140284987	+	Silent	SNP	C	C	T	rs143253336	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:140284987C>T	ENST00000458420.3	+	17	2950	c.2760C>T	c.(2758-2760)gaC>gaT	p.D920D		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	920	Glu-rich (highly acidic).				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.D920D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GTGGCTCTGACGACAGCGAAG	0.577										HNSCC(16;0.037)			C|||	3	0.000599042	0.0008	0.0014	5008	,	,		18951	0.001		0.0	False		,,,				2504	0.0				p.D920D	GBM(45;858 913 3709 36904 37282)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2760T	3						.	C		1,4405	2.1+/-5.4	0,1,2202	96.0	92.0	93.0		2760	-11.0	0.0	3	dbSNP_134	93	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CLSTN2	NM_022131.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		920/956	140284987	2,13004	2203	4300	6503	141767677	SO:0001819	synonymous_variant	64084	exon17			AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2760C>T	3.37:g.140284987C>T			141767677	NM_022131	B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Silent	SNP	ENST00000458420.3	37	CCDS3112.1																																																																																				0.577	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131	
U2SURP	23350	broad.mit.edu	37	3	142746042	142746042	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:142746042G>A	ENST00000473835.2	+	14	1416	c.1326G>A	c.(1324-1326)ggG>ggA	p.G442G	U2SURP_ENST00000397933.2_Silent_p.G33G|U2SURP_ENST00000493598.2_Silent_p.G441G	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	442					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G442G(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						TACGTGAAGGGCCAATGTTTG	0.338																																					p.G442G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1326A	3						.						196.0	191.0	193.0					3																	142746042		1882	4115	5997	144228732	SO:0001819	synonymous_variant	23350	exon14			BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.1326G>A	3.37:g.142746042G>A			144228732	NM_001080415	A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Silent	SNP	ENST00000473835.2	37	CCDS46928.1																																																																																				0.338	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415	
SH3BP5	9467	broad.mit.edu	37	3	15303721	15303721	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:15303721T>C	ENST00000383791.3	-	5	791	c.571A>G	c.(571-573)Atg>Gtg	p.M191V	SH3BP5-AS1_ENST00000420195.1_RNA|SH3BP5_ENST00000253688.5_Missense_Mutation_p.M34V|SH3BP5_ENST00000426925.1_Missense_Mutation_p.M34V|SH3BP5_ENST00000408919.3_Missense_Mutation_p.M34V	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	191					intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	protein kinase inhibitor activity (GO:0004860)	p.M191V(1)		NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						ATGCGGCCCATGGCGGCATTG	0.582																																					p.M34V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A100G	3						.						143.0	116.0	125.0					3																	15303721		2203	4300	6503	15278725	SO:0001583	missense	9467	exon5			AB005047	CCDS2625.2, CCDS43055.1	3p24.3	2008-07-10			ENSG00000131370	ENSG00000131370			10827	protein-coding gene	gene with protein product	"""SH3 binding protein"""	605612				9571151, 10339589	Standard	NM_004844		Approved	Sab	uc003bzp.2	O60239	OTTHUMG00000129859	ENST00000383791.3:c.571A>G	3.37:g.15303721T>C	ENSP00000373301:p.Met191Val		15278725	NM_001018009	B3KQW6|Q5JWV9	Missense_Mutation	SNP	ENST00000383791.3	37	CCDS2625.2	.	.	.	.	.	.	.	.	.	.	T	16.24	3.066266	0.55539	.	.	ENSG00000131370	ENST00000383791;ENST00000426925;ENST00000253688;ENST00000408919;ENST00000366391;ENST00000417936	T;T	0.77620	-1.11;2.33	5.8	5.8	0.92144	.	0.168241	0.64402	D	0.000005	T	0.74176	0.3682	L	0.54323	1.7	0.58432	D	0.999993	B	0.24533	0.105	B	0.22601	0.04	T	0.69888	-0.5023	10	0.33940	T	0.23	-17.3879	15.8497	0.78921	0.0:0.0:0.0:1.0	.	191	O60239	3BP5_HUMAN	V	191;34;34;34;34;34	ENSP00000373301:M191V;ENSP00000394115:M34V	ENSP00000253688:M34V	M	-	1	0	SH3BP5	15278725	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.673000	0.83973	2.231000	0.72958	0.454000	0.30748	ATG		0.582	SH3BP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340740.2	NM_004844	
IGSF10	285313	broad.mit.edu	37	3	151161528	151161528	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:151161528A>G	ENST00000282466.3	-	5	5206	c.5207T>C	c.(5206-5208)gTc>gCc	p.V1736A	IGSF10_ENST00000495443.1_5'Flank	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1736	Ig-like C2-type 3.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.V1736A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGACAAGGTGACATGAAGGTG	0.522																																					p.V1736A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T5207C	3						.						122.0	107.0	112.0					3																	151161528		2203	4300	6503	152644218	SO:0001583	missense	285313	exon5			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.5207T>C	3.37:g.151161528A>G	ENSP00000282466:p.Val1736Ala		152644218	NM_178822	Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	A	18.84	3.709032	0.68615	.	.	ENSG00000152580	ENST00000282466;ENST00000544042	T	0.64803	-0.12	5.25	5.25	0.73442	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.43260	D	0.000598	T	0.60612	0.2282	N	0.17631	0.505	0.49130	D	0.999754	P	0.49635	0.926	P	0.59424	0.857	T	0.58978	-0.7540	9	.	.	.	.	11.1806	0.48625	0.9253:0.0:0.0747:0.0	.	1736	Q6WRI0	IGS10_HUMAN	A	1736;363	ENSP00000282466:V1736A	.	V	-	2	0	IGSF10	152644218	1.000000	0.71417	0.990000	0.47175	0.818000	0.46254	6.247000	0.72411	1.989000	0.58080	0.477000	0.44152	GTC		0.522	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822	
MBNL1	4154	broad.mit.edu	37	3	152132806	152132806	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:152132806G>A	ENST00000463374.1	+	2	762	c.251G>A	c.(250-252)cGc>cAc	p.R84H	MBNL1_ENST00000324210.5_Missense_Mutation_p.R84H|MBNL1_ENST00000545754.1_Missense_Mutation_p.R84H|MBNL1_ENST00000357472.3_Missense_Mutation_p.R84H|MBNL1_ENST00000355460.2_Missense_Mutation_p.R84H|MBNL1_ENST00000485509.1_Missense_Mutation_p.R84H|MBNL1_ENST00000282486.6_Missense_Mutation_p.R84H|MBNL1_ENST00000492948.1_Missense_Mutation_p.R84H|MBNL1_ENST00000493459.1_Missense_Mutation_p.R27H|MBNL1_ENST00000324196.5_Missense_Mutation_p.R84H|MBNL1_ENST00000498502.1_Missense_Mutation_p.R84H|MBNL1_ENST00000485910.1_Missense_Mutation_p.R84H|MBNL1_ENST00000282488.7_Missense_Mutation_p.R84H	NM_207293.1	NP_997176.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	84					alternative mRNA splicing, via spliceosome (GO:0000380)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|mRNA splice site selection (GO:0006376)|myoblast differentiation (GO:0045445)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|skeletal muscle tissue development (GO:0007519)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R84H(2)		endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ATAAATGGACGCAATAACTTG	0.478																																					p.R84H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G251A	3						.						137.0	125.0	129.0					3																	152132806		2203	4300	6503	153615496	SO:0001583	missense	4154	exon2			Y13829	CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1	3q25	2013-01-18	2012-02-23	2003-03-14	ENSG00000152601	ENSG00000152601		"""Zinc fingers, CCCH-type domain containing"""	6923	protein-coding gene	gene with protein product		606516	"""muscleblind (Drosophila)-like"", ""muscleblind-like (Drosophila)"""	MBNL			Standard	NM_021038		Approved	KIAA0428, EXP42, EXP40, EXP35, EXP	uc003ezm.3	Q9NR56	OTTHUMG00000159163	ENST00000463374.1:c.251G>A	3.37:g.152132806G>A	ENSP00000418108:p.Arg84His		153615496	NM_207293	E9PBW7|O43311|O43797|Q86UV8|Q86UV9|Q96P92|Q96RE3	Missense_Mutation	SNP	ENST00000463374.1	37	CCDS3165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	5.989217|5.989217	0.97179|0.97179	.|.	.|.	ENSG00000152601|ENSG00000152601	ENST00000464596|ENST00000282486;ENST00000282488;ENST00000355460;ENST00000493459;ENST00000324210;ENST00000459747;ENST00000498502;ENST00000324196;ENST00000545754;ENST00000357472;ENST00000485910;ENST00000463374;ENST00000465907;ENST00000492948;ENST00000485509	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.51574	.|0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7	6.04|6.04	6.04|6.04	0.98038|0.98038	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.70902|0.70902	0.3277|0.3277	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|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	.|0.97110	.|0.993;0.999;0.999;0.998;0.993;0.993;0.997;1.0	T|T	0.71108|0.71108	-0.4688|-0.4688	5|10	.|0.87932	.|D	.|0	.|.	20.5948|20.5948	0.99439|0.99439	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|84;84;84;84;84;27;84;84	.|E9PBW7;Q9NR56-3;Q96RE3;Q9NR56;Q86UV8;Q86VM6;Q9NR56-2;Q96P92	.|.;.;.;MBNL1_HUMAN;.;.;.;.	T|H	83|84;84;84;27;84;28;84;84;84;84;84;84;84;84;84	.|ENSP00000282486:R84H;ENSP00000282488:R84H;ENSP00000347637:R84H;ENSP00000419347:R27H;ENSP00000319429:R84H;ENSP00000417169:R28H;ENSP00000420327:R84H;ENSP00000319374:R84H;ENSP00000437491:R84H;ENSP00000350064:R84H;ENSP00000418427:R84H;ENSP00000418108:R84H;ENSP00000417630:R84H;ENSP00000420103:R84H;ENSP00000418876:R84H	.|ENSP00000282486:R84H	A|R	+|+	1|2	0|0	MBNL1|MBNL1	153615496|153615496	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.731000|9.731000	0.98807|0.98807	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	GCA|CGC		0.478	MBNL1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353604.1	NM_021038	
ARHGEF26	26084	broad.mit.edu	37	3	153943657	153943657	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:153943657G>A	ENST00000356448.4	+	11	2232	c.1948G>A	c.(1948-1950)Gtc>Atc	p.V650I	ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.V650I|ARHGEF26_ENST00000483068.1_3'UTR	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	650					endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V650I(2)		endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						TTTTCCTTTAGTCTCCTCTTC	0.383																																					p.V650I	GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1948A	3						.						180.0	152.0	161.0					3																	153943657		1843	4098	5941	155426347	SO:0001583	missense	26084	exon11			BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24490	protein-coding gene	gene with protein product	"""Src homology 3 domain-containing guanine nucleotide exchange factor"""					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.1948G>A	3.37:g.153943657G>A	ENSP00000348828:p.Val650Ile		155426347	NM_015595	B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Missense_Mutation	SNP	ENST00000356448.4	37	CCDS46938.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744442	0.49151	.	.	ENSG00000114790	ENST00000356448;ENST00000465093	T;T	0.63580	-0.05;-0.05	5.54	5.54	0.83059	Pleckstrin homology-type (1);	0.124483	0.53938	D	0.000053	T	0.38026	0.1025	N	0.04373	-0.215	0.80722	D	1	P;P	0.48503	0.553;0.911	B;B	0.39185	0.157;0.293	T	0.46470	-0.9189	10	0.06494	T	0.89	-22.1232	19.4851	0.95026	0.0:0.0:1.0:0.0	.	650;650	E9PBD0;Q96DR7	.;ARHGQ_HUMAN	I	650	ENSP00000348828:V650I;ENSP00000423418:V650I	ENSP00000348828:V650I	V	+	1	0	ARHGEF26	155426347	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.874000	0.87199	2.580000	0.87095	0.650000	0.86243	GTC		0.383	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595	
ARHGEF26	26084	broad.mit.edu	37	3	153972587	153972587	+	Missense_Mutation	SNP	T	T	C	rs372579004		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:153972587T>C	ENST00000356448.4	+	14	2731	c.2447T>C	c.(2446-2448)gTc>gCc	p.V816A	ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.V816A|ARHGEF26_ENST00000483068.1_3'UTR	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	816	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V816A(2)		endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						GCTGACGTCGTCCTCATCTAT	0.522																																					p.R817R	GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T2451C	3						.						183.0	177.0	179.0					3																	153972587		2141	4255	6396	155455281	SO:0001583	missense	26084	exon14			BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24490	protein-coding gene	gene with protein product	"""Src homology 3 domain-containing guanine nucleotide exchange factor"""					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.2447T>C	3.37:g.153972587T>C	ENSP00000348828:p.Val816Ala		155455281	NM_015595	B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Missense_Mutation	SNP	ENST00000356448.4	37	CCDS46938.1	.	.	.	.	.	.	.	.	.	.	T	29.3	4.998611	0.93227	.	.	ENSG00000114790	ENST00000356448;ENST00000465093	T;T	0.52526	0.66;0.66	5.47	5.47	0.80525	Src homology-3 domain (4);	0.131107	0.50627	D	0.000106	T	0.75170	0.3813	M	0.91663	3.23	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81747	-0.0791	10	0.87932	D	0	-23.4032	15.3024	0.73962	0.0:0.0:0.0:1.0	.	816	Q96DR7	ARHGQ_HUMAN	A	816	ENSP00000348828:V816A;ENSP00000423418:V816A	ENSP00000348828:V816A	V	+	2	0	ARHGEF26	155455281	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	4.638000	0.61353	2.094000	0.63399	0.529000	0.55759	GTC		0.522	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595	
PLCH1	23007	broad.mit.edu	37	3	155199255	155199255	+	Silent	SNP	G	G	A	rs369115422		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:155199255G>A	ENST00000340059.7	-	23	4583	c.4584C>T	c.(4582-4584)ggC>ggT	p.G1528G	PLCH1_ENST00000414191.1_Silent_p.G1490G|PLCH1_ENST00000334686.6_Silent_p.G1490G|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000460012.1_Silent_p.G1490G	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1528					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.G1490G(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCACAGTCACGCCCTTCTTGT	0.463																																					p.G1528G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4584T	3						.	G	,,	1,4405	2.1+/-5.4	0,1,2202	69.0	70.0	70.0		4584,,4470	-10.5	0.0	3		70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,utr-3,coding-synonymous	PLCH1	NM_001130960.1,NM_001130961.1,NM_014996.2	,,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,,	1528/1694,,1490/1656	155199255	2,13004	2203	4300	6503	156681949	SO:0001819	synonymous_variant	23007	exon23			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.4584C>T	3.37:g.155199255G>A			156681949	NM_001130960	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	ENST00000340059.7	37	CCDS46939.1																																																																																				0.463	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996	
PLCH1	23007	broad.mit.edu	37	3	155199901	155199901	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:155199901C>G	ENST00000340059.7	-	23	3937	c.3938G>C	c.(3937-3939)gGc>gCc	p.G1313A	PLCH1_ENST00000414191.1_Missense_Mutation_p.G1275A|PLCH1_ENST00000334686.6_Missense_Mutation_p.G1275A|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000460012.1_Missense_Mutation_p.G1275A	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1313					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.G1275A(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGGTAACCAGCCACGAGAAGT	0.498																																					p.G1313A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3938C	3						.						100.0	103.0	102.0					3																	155199901		2203	4300	6503	156682595	SO:0001583	missense	23007	exon23			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.3938G>C	3.37:g.155199901C>G	ENSP00000345988:p.Gly1313Ala		156682595	NM_001130960	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	C	1.107	-0.659333	0.03454	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94	4.77	-0.649	0.11461	.	2.202580	0.01754	N	0.030098	T	0.53850	0.1822	N	0.14661	0.345	0.09310	N	1	B;B	0.19200	0.034;0.022	B;B	0.18561	0.022;0.01	T	0.37056	-0.9722	10	0.10902	T	0.67	.	4.0987	0.10004	0.1131:0.5672:0.1105:0.2092	.	1275;1313	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	A	1275;1313;1275;1275	ENSP00000417502:G1275A;ENSP00000345988:G1313A;ENSP00000335469:G1275A;ENSP00000412977:G1275A	ENSP00000335469:G1275A	G	-	2	0	PLCH1	156682595	0.000000	0.05858	0.000000	0.03702	0.532000	0.34746	-0.289000	0.08365	-0.172000	0.10779	-1.641000	0.00772	GGC		0.498	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996	
PLCH1	23007	broad.mit.edu	37	3	155200758	155200758	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:155200758G>A	ENST00000340059.7	-	23	3080	c.3081C>T	c.(3079-3081)tcC>tcT	p.S1027S	PLCH1_ENST00000414191.1_Silent_p.S989S|PLCH1_ENST00000334686.6_Silent_p.S989S|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron|PLCH1-AS2_ENST00000472913.1_RNA|PLCH1_ENST00000460012.1_Silent_p.S989S	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1027	Poly-Ser.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.S989S(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CACTGGAGGAGGATGATAACT	0.428																																					p.S1027S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3081T	3						.						152.0	155.0	154.0					3																	155200758		2203	4300	6503	156683452	SO:0001819	synonymous_variant	23007	exon23			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.3081C>T	3.37:g.155200758G>A			156683452	NM_001130960	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	ENST00000340059.7	37	CCDS46939.1																																																																																				0.428	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996	
VEPH1	79674	broad.mit.edu	37	3	157213072	157213072	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:157213072A>C	ENST00000362010.2	-	2	374	c.67T>G	c.(67-69)Tta>Gta	p.L23V	VEPH1_ENST00000392832.2_Missense_Mutation_p.L23V|VEPH1_ENST00000392833.2_Missense_Mutation_p.L23V|VEPH1_ENST00000468233.1_Missense_Mutation_p.L23V|VEPH1_ENST00000543418.1_Missense_Mutation_p.L23V|VEPH1_ENST00000494677.1_Missense_Mutation_p.L23V|VEPH1_ENST00000537559.1_Missense_Mutation_p.L23V	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	23						plasma membrane (GO:0005886)		p.L23V(1)		autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GAGTCATCTAAGGAGAAGAGG	0.398																																					p.L23V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T67G	3						.						134.0	137.0	136.0					3																	157213072		2203	4300	6503	158695766	SO:0001583	missense	79674	exon2			AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.67T>G	3.37:g.157213072A>C	ENSP00000354919:p.Leu23Val		158695766	NM_001167911	D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	A	4.108	0.018064	0.07959	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832;ENST00000494677;ENST00000537559;ENST00000468233;ENST00000487753;ENST00000461299;ENST00000489602	T;T;T;T;T;T;T;T	0.32515	3.18;3.23;3.18;3.23;1.45;1.45;1.45;1.45	5.47	4.3	0.51218	.	0.000000	0.64402	D	0.000001	T	0.36220	0.0959	N	0.25144	0.715	0.58432	D	0.999995	D;B;D	0.89917	1.0;0.433;0.999	D;B;D	0.83275	0.996;0.084;0.991	T	0.05484	-1.0882	10	0.21540	T	0.41	-17.5931	10.5209	0.44918	0.8671:0.0:0.1329:0.0	.	23;23;23	Q14D04-2;Q14D04-3;Q14D04	.;.;MELT_HUMAN	V	23	ENSP00000376578:L23V;ENSP00000354919:L23V;ENSP00000446258:L23V;ENSP00000376577:L23V;ENSP00000419193:L23V;ENSP00000443868:L23V;ENSP00000417268:L23V;ENSP00000420097:L23V	ENSP00000354919:L23V	L	-	1	2	VEPH1	158695766	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.491000	0.53252	2.076000	0.62316	0.533000	0.62120	TTA		0.398	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621	
SERPINI2	5276	broad.mit.edu	37	3	167183072	167183072	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:167183072T>C	ENST00000476257.1	-	6	1086	c.788A>G	c.(787-789)gAa>gGa	p.E263G	SERPINI2_ENST00000471111.1_Missense_Mutation_p.E263G|SERPINI2_ENST00000264677.4_Missense_Mutation_p.E263G|SERPINI2_ENST00000461846.1_Missense_Mutation_p.E263G			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	263					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.E263G(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						AATTAGTTTTTCCACTTCTTC	0.348																																					p.E263G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A788G	3						.						155.0	160.0	159.0					3																	167183072		2202	4300	6502	168665766	SO:0001583	missense	5276	exon5			AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"""Serine (or cysteine) peptidase inhibitors"""	8945	protein-coding gene	gene with protein product		605587	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2"", ""serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"""	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.788A>G	3.37:g.167183072T>C	ENSP00000420621:p.Glu263Gly		168665766	NM_006217		Missense_Mutation	SNP	ENST00000476257.1	37	CCDS3200.1	.	.	.	.	.	.	.	.	.	.	T	8.692	0.907723	0.17833	.	.	ENSG00000114204	ENST00000476257;ENST00000461846;ENST00000264677;ENST00000471111	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.74	3.4	0.38934	Serpin domain (3);	0.178403	0.51477	N	0.000082	T	0.81138	0.4760	M	0.90922	3.16	0.39925	D	0.974215	B;B	0.20550	0.046;0.046	B;B	0.26094	0.066;0.066	T	0.77897	-0.2416	10	0.59425	D	0.04	.	9.5571	0.39346	0.0:0.1283:0.0:0.8716	.	263;263	B4DDY9;O75830	.;SPI2_HUMAN	G	263	ENSP00000420621:E263G;ENSP00000417692:E263G;ENSP00000264677:E263G;ENSP00000419407:E263G	ENSP00000264677:E263G	E	-	2	0	SERPINI2	168665766	0.995000	0.38212	0.119000	0.21687	0.006000	0.05464	0.508000	0.22692	0.471000	0.27319	0.533000	0.62120	GAA		0.348	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1	NM_006217	
TBC1D5	9779	broad.mit.edu	37	3	17349616	17349616	+	Missense_Mutation	SNP	G	G	A	rs370114377		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:17349616G>A	ENST00000253692.7	-	14	2670	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W	TBC1D5_ENST00000446818.2_Missense_Mutation_p.R336W|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000429924.2_Missense_Mutation_p.R288W|TBC1D5_ENST00000429383.4_Missense_Mutation_p.R336W	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	336	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)	p.R336W(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						AATAGCAGCCGCACCCACCTT	0.428																																					p.R336W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1006T	3						.	G	TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	40.0	40.0	40.0		1006,1006,1006	4.7	1.0	3		40	0,8600		0,0,4300	no	missense,missense,missense	TBC1D5	NM_001134380.1,NM_001134381.1,NM_014744.2	101,101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	336/796,336/818,336/796	17349616	1,13005	2203	4300	6503	17324620	SO:0001583	missense	9779	exon14			D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.1006C>T	3.37:g.17349616G>A	ENSP00000253692:p.Arg336Trp		17324620	NM_001134380	A6NP25|C9JP52	Missense_Mutation	SNP	ENST00000253692.7	37	CCDS33714.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870280	0.72065	2.27E-4	0.0	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924	T;T;T;T	0.11604	2.76;2.76;2.76;2.76	5.65	4.72	0.59763	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.41534	0.1163	M	0.93375	3.41	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.50725	-0.8794	10	0.87932	D	0	-19.4794	11.9134	0.52751	0.0:0.0:0.6607:0.3393	.	288;336;336	C9J3F6;C9JP52;Q92609	.;.;TBCD5_HUMAN	W	336;336;336;288	ENSP00000253692:R336W;ENSP00000398127:R336W;ENSP00000402935:R336W;ENSP00000411925:R288W	ENSP00000253692:R336W	R	-	1	2	TBC1D5	17324620	1.000000	0.71417	0.991000	0.47740	0.764000	0.43329	3.979000	0.56888	2.645000	0.89757	0.585000	0.79938	CGG		0.428	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340301.3	NM_014744	
TNIK	23043	broad.mit.edu	37	3	170858207	170858207	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:170858207C>A	ENST00000436636.2	-	13	1657	c.1313G>T	c.(1312-1314)aGg>aTg	p.R438M	TNIK_ENST00000475336.1_Missense_Mutation_p.R438M|TNIK_ENST00000460047.1_Missense_Mutation_p.R438M|TNIK_ENST00000341852.6_Missense_Mutation_p.R438M|TNIK_ENST00000369326.5_Missense_Mutation_p.R438M|TNIK_ENST00000488470.1_Missense_Mutation_p.R438M|TNIK_ENST00000357327.5_Missense_Mutation_p.R438M|TNIK_ENST00000470834.1_Missense_Mutation_p.R438M|TNIK_ENST00000538048.1_Missense_Mutation_p.R438M|TNIK_ENST00000284483.8_Missense_Mutation_p.R438M	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	438	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.R438M(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CTCCGCACGCCTCCTCTCCTC	0.657																																					p.R438M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1313T	3						.						92.0	101.0	98.0					3																	170858207		2058	4193	6251	172340901	SO:0001583	missense	23043	exon13			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.1313G>T	3.37:g.170858207C>A	ENSP00000399511:p.Arg438Met		172340901	NM_001161565	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.626453	0.66901	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.46451	0.98;0.87;0.95;0.87;4.25;0.87;0.87;0.98;0.98;0.87	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.50086	0.1595	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D;D;D;D	0.57899	0.981;0.981;0.962;0.981;0.981;0.981;0.962;0.968	P;P;P;P;P;P;P;P	0.54590	0.756;0.756;0.756;0.756;0.756;0.756;0.756;0.575	T	0.44019	-0.9355	10	0.46703	T	0.11	.	19.1249	0.93378	0.0:1.0:0.0:0.0	.	438;438;438;438;438;438;438;438	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	M	438	ENSP00000399511:R438M;ENSP00000358332:R438M;ENSP00000443278:R438M;ENSP00000345352:R438M;ENSP00000284483:R438M;ENSP00000418156:R438M;ENSP00000349880:R438M;ENSP00000418916:R438M;ENSP00000418378:R438M;ENSP00000419990:R438M	ENSP00000284483:R438M	R	-	2	0	TNIK	172340901	1.000000	0.71417	0.999000	0.59377	0.352000	0.29268	5.738000	0.68613	2.608000	0.88229	0.650000	0.86243	AGG		0.657	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796	
NCEH1	57552	broad.mit.edu	37	3	172351710	172351710	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:172351710T>C	ENST00000475381.1	-	5	1015	c.782A>G	c.(781-783)gAc>gGc	p.D261G	NCEH1_ENST00000538775.1_Missense_Mutation_p.D301G|NCEH1_ENST00000273512.3_Missense_Mutation_p.D293G|NCEH1_ENST00000543711.1_Missense_Mutation_p.D128G			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	261					lipid catabolic process (GO:0016042)|protein dephosphorylation (GO:0006470)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carboxylic ester hydrolase activity (GO:0052689)|phosphate ion binding (GO:0042301)|serine hydrolase activity (GO:0017171)	p.D293G(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						CTGCACAAAGTCATAGTTGCC	0.473																																					p.D301G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A902G	3						.						126.0	116.0	119.0					3																	172351710		2203	4300	6503	173834404	SO:0001583	missense	57552	exon5			AB037784	CCDS54681.1, CCDS54682.1	3q26.31	2009-07-23	2009-07-23	2009-07-23	ENSG00000144959	ENSG00000144959			29260	protein-coding gene	gene with protein product		613234	"""arylacetamide deacetylase-like 1"""	AADACL1		10718198	Standard	NM_001146276		Approved	KIAA1363, NCEH	uc011bpx.2	Q6PIU2	OTTHUMG00000156872	ENST00000475381.1:c.782A>G	3.37:g.172351710T>C	ENSP00000418571:p.Asp261Gly		173834404	NM_001146276	B7Z2K4|B7Z3A1|B7Z5U2|B7Z906|B7ZAW6|F5H7K4|Q86WZ1|Q9P2I4	Missense_Mutation	SNP	ENST00000475381.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.33|10.33	1.319281|1.319281	0.23994|0.23994	.|.	.|.	ENSG00000144959|ENSG00000144959	ENST00000475381;ENST00000538775;ENST00000273512;ENST00000543711|ENST00000424772	T;T;T;T|.	0.14022|.	2.54;2.54;2.54;2.54|.	5.61|5.61	5.61|5.61	0.85477|0.85477	Alpha/beta hydrolase fold-3 (1);|.	0.382769|.	0.31257|.	N|.	0.007961|.	T|T	0.54743|0.54743	0.1877|0.1877	L|L	0.49513|0.49513	1.565|1.565	0.35643|0.35643	D|D	0.81115|0.81115	P;P|.	0.42871|.	0.792;0.679|.	B;B|.	0.36030|.	0.194;0.216|.	T|T	0.63554|0.63554	-0.6611|-0.6611	10|5	0.46703|.	T|.	0.11|.	-27.1704|-27.1704	10.1869|10.1869	0.43002|0.43002	0.0:0.0745:0.0:0.9255|0.0:0.0745:0.0:0.9255	.|.	301;261|.	F5H7K4;Q6PIU2|.	.;NCEH1_HUMAN|.	G|A	261;301;293;128|292	ENSP00000418571:D261G;ENSP00000442464:D301G;ENSP00000273512:D293G;ENSP00000443227:D128G|.	ENSP00000273512:D293G|.	D|T	-|-	2|1	0|0	NCEH1|NCEH1	173834404|173834404	0.997000|0.997000	0.39634|0.39634	0.977000|0.977000	0.42913|0.42913	0.098000|0.098000	0.18820|0.18820	2.304000|2.304000	0.43655|0.43655	2.129000|2.129000	0.65627|0.65627	0.482000|0.482000	0.46254|0.46254	GAC|ACT		0.473	NCEH1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346367.3	NM_020792	
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											p.H1047R	Colon(199;1504 1750 3362 26421 31210 32040)		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	PIK3CA,breast,NS,Substitution - Missense,0 	.	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)	c.A3140G	3						.						99.0	89.0	92.0					3																	178952085		1912	4130	6042	180434779	SO:0001583	missense	5290	exon21				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg		180434779	NM_006218	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
KLHL24	54800	broad.mit.edu	37	3	183368437	183368437	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:183368437A>G	ENST00000454652.2	+	4	679	c.293A>G	c.(292-294)gAc>gGc	p.D98G	KLHL24_ENST00000242810.6_Missense_Mutation_p.D98G|KLHL24_ENST00000476808.1_Missense_Mutation_p.D98G	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	98	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					cell projection (GO:0042995)|cytoplasm (GO:0005737)		p.D98G(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			TTTTGTAATGACCACAGGGAA	0.398																																					p.D98G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A293G	3						.						198.0	188.0	192.0					3																	183368437		2203	4300	6503	184851131	SO:0001583	missense	54800	exon3				CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"""Kelch-like"", ""BTB/POZ domain containing"""	25947	protein-coding gene	gene with protein product		611295	"""kelch-like 24 (Drosophila)"""				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.293A>G	3.37:g.183368437A>G	ENSP00000395012:p.Asp98Gly		184851131	NM_017644	A5PLN8|Q9H620|Q9NXT9	Missense_Mutation	SNP	ENST00000454652.2	37	CCDS3246.1	.	.	.	.	.	.	.	.	.	.	A	9.499	1.102659	0.20632	.	.	ENSG00000114796	ENST00000242810;ENST00000493074;ENST00000454495;ENST00000427201;ENST00000482138;ENST00000454652;ENST00000468001;ENST00000476808	T;T;T;T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49	5.44	5.44	0.79542	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.71316	0.3325	N	0.10782	0.045	0.80722	D	1	D;B	0.89917	1.0;0.023	D;B	0.83275	0.996;0.042	T	0.76645	-0.2883	10	0.51188	T	0.08	.	15.5022	0.75709	1.0:0.0:0.0:0.0	.	98;98	Q6TFL4-2;Q6TFL4	.;KLH24_HUMAN	G	98	ENSP00000242810:D98G;ENSP00000417347:D98G;ENSP00000416836:D98G;ENSP00000408567:D98G;ENSP00000417275:D98G;ENSP00000395012:D98G;ENSP00000418922:D98G;ENSP00000419010:D98G	ENSP00000242810:D98G	D	+	2	0	KLHL24	184851131	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.339000	0.96797	2.070000	0.61991	0.377000	0.23210	GAC		0.398	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2	NM_017644	
AP2M1	1173	broad.mit.edu	37	3	183899705	183899705	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:183899705G>A	ENST00000292807.5	+	9	981	c.833G>A	c.(832-834)cGc>cAc	p.R278H	AP2M1_ENST00000411763.2_Missense_Mutation_p.R303H|AP2M1_ENST00000461733.1_3'UTR|AP2M1_ENST00000382456.3_Missense_Mutation_p.R276H|AP2M1_ENST00000439647.1_Missense_Mutation_p.R276H|EIF2B5_ENST00000444495.1_Intron	NM_004068.3	NP_004059.2	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	278	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of protein localization to plasma membrane (GO:1903077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.R278H(1)		endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTAAGGTATCGCACAACCAAG	0.552																																					p.R276H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G827A	3						.						69.0	70.0	70.0					3																	183899705		2103	4218	6321	185382399	SO:0001583	missense	1173	exon8			U36188	CCDS43177.1, CCDS43178.1	3q28	2008-07-18			ENSG00000161203	ENSG00000161203			564	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, medium 1"", ""plasma membrane adaptor AP-2 50kDA protein"", ""clathrin coat adaptor protein AP50"", ""clathrin adaptor complex AP2, mu subunit"", ""HA2 50 kDA subunit"", ""clathrin assembly protein complex 2 medium chain"", ""AP-2 mu 2 chain"""	601024		CLAPM1		8595912	Standard	NM_004068		Approved	AP50, mu2	uc003fmw.3	Q96CW1	OTTHUMG00000156822	ENST00000292807.5:c.833G>A	3.37:g.183899705G>A	ENSP00000292807:p.Arg278His		185382399	NM_001025205	A6NE12|D3DNT1|P20172|P53679	Missense_Mutation	SNP	ENST00000292807.5	37	CCDS43177.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418122	0.83449	.	.	ENSG00000161203	ENST00000382456;ENST00000411763;ENST00000292807;ENST00000540821;ENST00000539646;ENST00000439647;ENST00000432591	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	5.91	5.03	0.67393	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.42086	0.1187	M	0.75085	2.285	0.80722	D	1	D;D;P;P;P	0.67145	0.979;0.996;0.873;0.939;0.756	P;P;B;P;B	0.52598	0.671;0.703;0.237;0.545;0.152	T	0.40440	-0.9563	10	0.87932	D	0	.	14.4959	0.67685	0.0696:0.0:0.9304:0.0	.	168;148;278;303;276	B7Z4N2;B4DTI4;Q96CW1;E9PFW3;Q96CW1-2	.;.;AP2M1_HUMAN;.;.	H	276;303;278;218;263;276;207	ENSP00000371894:R276H;ENSP00000403362:R303H;ENSP00000292807:R278H;ENSP00000409081:R276H;ENSP00000395438:R207H	ENSP00000292807:R278H	R	+	2	0	AP2M1	185382399	1.000000	0.71417	0.998000	0.56505	0.679000	0.39708	7.639000	0.83342	2.793000	0.96121	0.655000	0.94253	CGC		0.552	AP2M1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346013.1	NM_004068	
PSMD2	5708	broad.mit.edu	37	3	184026513	184026513	+	Silent	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:184026513C>A	ENST00000310118.4	+	21	3120	c.2562C>A	c.(2560-2562)ggC>ggA	p.G854G	PSMD2_ENST00000439383.1_Silent_p.G724G|PSMD2_ENST00000435761.1_Silent_p.G695G|EIF2B5_ENST00000444495.1_Intron	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	854					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)	p.G854G(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	ATGTGGTGGGCCAGGCTGGCA	0.532											OREG0015948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G854G	Colon(24;313 636 6917 9932 15554)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2562A	3						.						68.0	75.0	72.0					3																	184026513		2203	4300	6503	185509207	SO:0001819	synonymous_variant	5708	exon21			AK095245	CCDS3258.1, CCDS63853.1, CCDS63854.1	3q27.3	2008-05-22			ENSG00000175166	ENSG00000175166		"""Proteasome (prosome, macropain) subunits"""	9559	protein-coding gene	gene with protein product		606223				8774743	Standard	NM_002808		Approved	S2, P97, TRAP2, MGC14274, Rpn1	uc003fnn.1	Q13200	OTTHUMG00000156796	ENST00000310118.4:c.2562C>A	3.37:g.184026513C>A		1989	185509207	NM_002808	B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Silent	SNP	ENST00000310118.4	37	CCDS3258.1																																																																																				0.532	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345843.1	NM_002808	
EIF4G1	1981	broad.mit.edu	37	3	184045635	184045635	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:184045635G>A	ENST00000346169.2	+	26	4069	c.3798G>A	c.(3796-3798)gtG>gtA	p.V1266V	EIF4G1_ENST00000427845.1_Silent_p.V1180V|EIF4G1_ENST00000441154.1_Silent_p.V1103V|EIF4G1_ENST00000350481.5_Silent_p.V1102V|EIF4G1_ENST00000342981.4_Silent_p.V1267V|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000352767.3_Silent_p.V1273V|EIF4G1_ENST00000424196.1_Silent_p.V1273V|EIF4G1_ENST00000411531.1_Silent_p.V1227V|EIF4G1_ENST00000434061.2_Silent_p.V1071V|EIF4G1_ENST00000319274.6_Silent_p.V1266V|EIF4G1_ENST00000382330.3_Silent_p.V1273V|EIF4G1_ENST00000392537.2_Silent_p.V1179V|EIF4G1_ENST00000414031.1_Silent_p.V1226V|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000435046.2_Silent_p.V1070V	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1266	MI. {ECO:0000255|PROSITE- ProRule:PRU00698}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.V1266V(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCCAGTGCGTGCAGGAGCTGG	0.617																																					p.V1267V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3801A	3						.						79.0	68.0	72.0					3																	184045635		2203	4300	6503	185528329	SO:0001819	synonymous_variant	1981	exon25			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.3798G>A	3.37:g.184045635G>A			185528329	NM_182917	D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Silent	SNP	ENST00000346169.2	37	CCDS3259.1																																																																																				0.617	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917	
AHSG	197	broad.mit.edu	37	3	186338617	186338617	+	Silent	SNP	G	G	A	rs370801937		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:186338617G>A	ENST00000273784.5	+	7	1081	c.1005G>A	c.(1003-1005)tcG>tcA	p.S335S	AHSG_ENST00000411641.2_Silent_p.S334S	NM_001622.2	NP_001613.2	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	334					acute-phase response (GO:0006953)|negative regulation of bone mineralization (GO:0030502)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|ossification (GO:0001503)|pinocytosis (GO:0006907)|positive regulation of phagocytosis (GO:0050766)|regulation of bone mineralization (GO:0030500)|regulation of inflammatory response (GO:0050727)|skeletal system development (GO:0001501)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|kinase inhibitor activity (GO:0019210)	p.S334S(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		GAGAAGTGTCGCACCCCCGGA	0.612																																					p.S334S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1002A	3						.	G		0,4406		0,0,2203	85.0	82.0	83.0		1002	-3.6	0.0	3		83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	AHSG	NM_001622.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		334/368	186338617	1,13005	2203	4300	6503	187821311	SO:0001819	synonymous_variant	197	exon7			D67013, M16961	CCDS3278.1	3q27.3	2006-02-22			ENSG00000145192	ENSG00000145192			349	protein-coding gene	gene with protein product		138680				9322749, 7736783	Standard	NM_001622		Approved	FETUA, A2HS, HSGA	uc003fqk.4	P02765	OTTHUMG00000156605	ENST00000273784.5:c.1005G>A	3.37:g.186338617G>A			187821311	NM_001622	A8K9N6|B2R7G1|O14961|O14962|Q9P152	Silent	SNP	ENST00000273784.5	37																																																																																					0.612	AHSG-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000344762.1	NM_001622	
KCNH8	131096	broad.mit.edu	37	3	19389273	19389273	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:19389273G>A	ENST00000328405.2	+	5	893	c.627G>A	c.(625-627)aaG>aaA	p.K209K	KCNH8_ENST00000475063.1_3'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	209					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.K209K(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						ATGCAAAAAAGTCCAAATTCA	0.373																																					p.K209K	NSCLC(124;1625 1765 8018 24930 42026)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G627A	3						.						147.0	136.0	140.0					3																	19389273		2203	4299	6502	19364277	SO:0001819	synonymous_variant	131096	exon5			AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.627G>A	3.37:g.19389273G>A			19364277	NM_144633	B7Z2I7|Q59GQ6	Silent	SNP	ENST00000328405.2	37	CCDS2632.1																																																																																				0.373	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633	
RTP1	132112	broad.mit.edu	37	3	186917493	186917493	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:186917493T>A	ENST00000312295.4	+	2	457	c.427T>A	c.(427-429)Tcc>Acc	p.S143T	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	143					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)	p.S143T(1)		breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		GCTGGACGAGTCCAGCATGCT	0.667																																					p.S143T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T427A	3						.						26.0	28.0	27.0					3																	186917493		2202	4287	6489	188400187	SO:0001583	missense	132112	exon2			BC034744	CCDS3287.2	3q27.3	2014-02-20	2006-11-21		ENSG00000175077	ENSG00000175077		"""Receptor transporter proteins"""	28580	protein-coding gene	gene with protein product	"""receptor transporting protein 1"", ""zinc finger, 3CxxC-type 1"""	609137	"""receptor transporter protein 1"""			16271481, 15550249, 16720576	Standard	NM_153708		Approved	MGC35450, Z3CXXC1	uc003frg.3	P59025	OTTHUMG00000149886	ENST00000312295.4:c.427T>A	3.37:g.186917493T>A	ENSP00000311712:p.Ser143Thr		188400187	NM_153708		Missense_Mutation	SNP	ENST00000312295.4	37	CCDS3287.2	.	.	.	.	.	.	.	.	.	.	T	16.94	3.261467	0.59431	.	.	ENSG00000175077	ENST00000312295	T	0.21932	1.98	5.7	4.52	0.55395	.	0.158439	0.56097	D	0.000027	T	0.18299	0.0439	L	0.44542	1.39	0.23180	N	0.998168	P	0.40282	0.711	B	0.37346	0.247	T	0.11299	-1.0593	10	0.72032	D	0.01	.	9.7723	0.40598	0.0:0.0:0.1734:0.8266	.	143	P59025	RTP1_HUMAN	T	143	ENSP00000311712:S143T	ENSP00000311712:S143T	S	+	1	0	RTP1	188400187	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	3.046000	0.49846	0.966000	0.38159	0.459000	0.35465	TCC		0.667	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313731.2	NM_153708	
OPA1	4976	broad.mit.edu	37	3	193380659	193380659	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:193380659A>G	ENST00000392438.3	+	24	2638	c.2404A>G	c.(2404-2406)Aat>Gat	p.N802D	OPA1_ENST00000361150.2_Missense_Mutation_p.N803D|OPA1_ENST00000361510.2_Missense_Mutation_p.N857D|OPA1_ENST00000361715.2_Missense_Mutation_p.N821D|OPA1_ENST00000361828.2_Missense_Mutation_p.N820D|OPA1_ENST00000361908.3_Missense_Mutation_p.N839D	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	802					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)	p.N857D(1)		breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		GTTGAAATGTAATGAGGAGCA	0.373																																					p.N784D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2350G	3						.						92.0	85.0	88.0					3																	193380659		2203	4300	6503	194863353	SO:0001583	missense	4976	exon24			AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.2404A>G	3.37:g.193380659A>G	ENSP00000376233:p.Asn802Asp		194863353	NM_130832	D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	A	9.371	1.070558	0.20147	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150	D;D;D;D;D;D	0.94650	-3.07;-3.08;-3.08;-3.07;-3.07;-3.48	5.75	5.75	0.90469	.	0.041485	0.85682	D	0.000000	D	0.86736	0.6004	N	0.11560	0.145	0.50313	D	0.999867	B;B;B;B;B;B;B;B	0.06786	0.001;0.001;0.0;0.0;0.001;0.0;0.001;0.0	B;B;B;B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001;0.001;0.001;0.001	T	0.82651	-0.0352	10	0.08381	T	0.77	-28.0496	15.2403	0.73465	1.0:0.0:0.0:0.0	.	766;802;784;803;820;839;821;857	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	D	839;802;857;821;820;803	ENSP00000354681:N839D;ENSP00000376233:N802D;ENSP00000355324:N857D;ENSP00000355311:N821D;ENSP00000354429:N820D;ENSP00000354781:N803D	ENSP00000354781:N803D	N	+	1	0	OPA1	194863353	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.248000	0.65421	2.185000	0.69588	0.533000	0.62120	AAT		0.373	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837	
ATP13A3	79572	broad.mit.edu	37	3	194167751	194167751	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:194167751A>G	ENST00000439040.1	-	14	2193	c.1402T>C	c.(1402-1404)Tat>Cat	p.Y468H	ATP13A3_ENST00000256031.4_Missense_Mutation_p.Y468H			Q9H7F0	AT133_HUMAN	ATPase type 13A3	468						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.Y468H(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CTCTGAGCATACACAATACCA	0.398																																					p.Y468H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1402C	3						.						93.0	86.0	88.0					3																	194167751		1873	4115	5988	195649040	SO:0001583	missense	79572	exon13			AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.1402T>C	3.37:g.194167751A>G	ENSP00000416508:p.Tyr468His		195649040	NM_024524	Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.297123	0.81025	.	.	ENSG00000133657	ENST00000439040;ENST00000256031;ENST00000310773	D;D	0.91124	-2.79;-2.79	5.21	4.05	0.47172	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.93504	0.7927	M	0.73430	2.235	0.58432	D	0.999995	D	0.55385	0.971	P	0.61328	0.887	D	0.92625	0.6111	10	0.54805	T	0.06	-1.2136	10.8158	0.46575	0.9253:0.0:0.0747:0.0	.	468	Q9H7F0	AT133_HUMAN	H	468;468;206	ENSP00000416508:Y468H;ENSP00000256031:Y468H	ENSP00000256031:Y468H	Y	-	1	0	ATP13A3	195649040	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.861000	0.92277	0.807000	0.34208	0.477000	0.44152	TAT		0.398	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524	
UBXN7	26043	broad.mit.edu	37	3	196089294	196089294	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:196089294T>C	ENST00000296328.4	-	9	1173	c.1099A>G	c.(1099-1101)Act>Gct	p.T367A	UBXN7_ENST00000428095.1_Missense_Mutation_p.T205A|UBXN7_ENST00000535858.1_Missense_Mutation_p.T219A	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	367						Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|nucleus (GO:0005634)	transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.T367A(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GGTGGCTCAGTCAGCGGCCTT	0.488																																					p.T367A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1099G	3						.						110.0	101.0	104.0					3																	196089294		1884	4117	6001	197573691	SO:0001583	missense	26043	exon9			AB018337	CCDS43191.1	3q29	2012-07-06	2008-07-25	2008-07-25	ENSG00000163960	ENSG00000163960		"""UBX domain containing"""	29119	protein-coding gene	gene with protein product			"""UBX domain containing 7"""	UBXD7		9872452, 22537386	Standard	NM_015562		Approved	KIAA0794	uc003fwm.4	O94888	OTTHUMG00000155639	ENST00000296328.4:c.1099A>G	3.37:g.196089294T>C	ENSP00000296328:p.Thr367Ala		197573691	NM_015562	D3DXB3|Q6ZP77|Q86X20|Q8N327	Missense_Mutation	SNP	ENST00000296328.4	37	CCDS43191.1	.	.	.	.	.	.	.	.	.	.	T	6.450	0.451123	0.12223	.	.	ENSG00000163960	ENST00000296328;ENST00000428095;ENST00000535858	.	.	.	5.79	3.39	0.38822	.	0.301739	0.37012	N	0.002287	T	0.15912	0.0383	N	0.14661	0.345	0.24325	N	0.99502	B	0.02656	0.0	B	0.01281	0.0	T	0.24584	-1.0156	9	0.08599	T	0.76	-1.8027	5.0325	0.14417	0.0:0.1412:0.3578:0.5011	.	367	O94888	UBXN7_HUMAN	A	367;205;219	.	ENSP00000296328:T367A	T	-	1	0	UBXN7	197573691	0.913000	0.31002	0.498000	0.27564	0.816000	0.46133	1.367000	0.34204	0.981000	0.38548	0.460000	0.39030	ACT		0.488	UBXN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340938.2	XM_087353	
CHL1	10752	broad.mit.edu	37	3	369959	369959	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:369959T>C	ENST00000256509.2	+	5	949	c.307T>C	c.(307-309)Ttt>Ctt	p.F103L	CHL1_ENST00000397491.2_Missense_Mutation_p.F103L	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.F103L(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CATATCTCACTTTCAAGGGAA	0.393																																					p.F103L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T307C	3						.						129.0	127.0	128.0					3																	369959		2203	4300	6503	344959	SO:0001583	missense	10752	exon5			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.307T>C	3.37:g.369959T>C	ENSP00000256509:p.Phe103Leu		344959	NM_006614	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	T	32	5.184632	0.94885	.	.	ENSG00000134121	ENST00000256509;ENST00000397491;ENST00000435603	T;T;T	0.66638	-0.22;-0.22;-0.22	5.02	5.02	0.67125	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.135582	0.51477	D	0.000081	T	0.74680	0.3748	L	0.48642	1.525	0.48762	D	0.9997	P;P;D	0.64830	0.803;0.901;0.994	P;P;D	0.64877	0.613;0.613;0.93	T	0.77539	-0.2550	10	0.87932	D	0	.	13.3121	0.60386	0.0:0.0:0.0:1.0	.	103;103;103	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	L	103	ENSP00000256509:F103L;ENSP00000380628:F103L;ENSP00000397445:F103L	ENSP00000256509:F103L	F	+	1	0	CHL1	344959	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	6.691000	0.74573	1.888000	0.54679	0.533000	0.62120	TTT		0.393	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614	
CNTN6	27255	broad.mit.edu	37	3	1371501	1371501	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:1371501delA	ENST00000446702.2	+	11	1873	c.1246delA	c.(1246-1248)aaafs	p.K418fs	CNTN6_ENST00000539053.1_Frame_Shift_Del_p.K346fs|CNTN6_ENST00000350110.2_Frame_Shift_Del_p.K418fs			Q9UQ52	CNTN6_HUMAN	contactin 6	418	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.K418fs*63(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AAGTCCAGTTAAAAAAAAGTC	0.393																																					p.K416fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1246delA	3						.						79.0	82.0	81.0					3																	1371501		2203	4297	6500	1346501	SO:0001589	frameshift_variant	27255	exon11			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.1246delA	3.37:g.1371501delA	ENSP00000407822:p.Lys418fs		1346501	NM_014461	Q2KHM2	Frame_Shift_Del	DEL	ENST00000446702.2	37	CCDS2557.1																																																																																				0.393	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461	
CNTN4	152330	broad.mit.edu	37	3	3030071	3030071	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:3030071T>C	ENST00000397461.1	+	13	1785	c.1401T>C	c.(1399-1401)gtT>gtC	p.V467V	CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000418658.1_Silent_p.V467V|CNTN4_ENST00000358480.3_Silent_p.V248V|CNTN4_ENST00000427331.1_Silent_p.V467V|CNTN4_ENST00000448906.2_Silent_p.V139V|CNTN4_ENST00000397459.2_Silent_p.V139V	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	467	Ig-like C2-type 5.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.V467V(1)|p.V139V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TCATCAACGTTACTAAATCAG	0.373																																					p.V139V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T417C	3						.						92.0	93.0	93.0					3																	3030071		2203	4300	6503	3005071	SO:0001819	synonymous_variant	152330	exon5			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1401T>C	3.37:g.3030071T>C			3005071	NM_175613	B2RAX3|Q8IX14|Q8TC35	Silent	SNP	ENST00000397461.1	37	CCDS43041.1																																																																																				0.373	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2		
LRRN1	57633	broad.mit.edu	37	3	3887626	3887626	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:3887626G>A	ENST00000319331.3	+	2	2062	c.1301G>A	c.(1300-1302)cGt>cAt	p.R434H	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	434	Ig-like C2-type.					integral component of membrane (GO:0016021)		p.R434H(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TTCCCAAATCGTTTAAACGTG	0.473																																					p.R434H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1301A	3						.						89.0	91.0	91.0					3																	3887626		2203	4300	6503	3862626	SO:0001583	missense	57633	exon2			AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.1301G>A	3.37:g.3887626G>A	ENSP00000314901:p.Arg434His		3862626	NM_020873	Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	ENST00000319331.3	37	CCDS33685.1	.	.	.	.	.	.	.	.	.	.	G	0.156	-1.085897	0.01873	.	.	ENSG00000175928	ENST00000319331	T	0.67865	-0.29	5.65	1.84	0.25277	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.138414	0.64402	N	0.000003	T	0.43678	0.1258	N	0.17082	0.46	0.30705	N	0.749859	B	0.02656	0.0	B	0.04013	0.001	T	0.32481	-0.9905	10	0.14252	T	0.57	.	8.8163	0.34998	0.7785:0.0:0.2215:0.0	.	434	Q6UXK5	LRRN1_HUMAN	H	434	ENSP00000314901:R434H	ENSP00000314901:R434H	R	+	2	0	LRRN1	3862626	1.000000	0.71417	0.064000	0.19789	0.830000	0.47004	4.538000	0.60650	0.072000	0.16694	-0.355000	0.07637	CGT		0.473	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873	
ITPR1	3708	broad.mit.edu	37	3	4706902	4706902	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:4706902G>A	ENST00000443694.2	+	14	1590	c.1590G>A	c.(1588-1590)cgG>cgA	p.R530R	ITPR1_ENST00000456211.2_Silent_p.R530R|ITPR1_ENST00000423119.2_Silent_p.R545R|ITPR1_ENST00000354582.6_Silent_p.R545R|ITPR1_ENST00000302640.8_Silent_p.R530R|ITPR1_ENST00000357086.4_Silent_p.R545R|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	545					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.R530R(1)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	GGGACCAGCGGCACGCTCCTT	0.527																																					p.R545R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1635A	3						.						83.0	86.0	85.0					3																	4706902		1981	4165	6146	4681902	SO:0001819	synonymous_variant	3708	exon17			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.1590G>A	3.37:g.4706902G>A			4681902	NM_001099952	E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	ENST00000443694.2	37	CCDS54551.1																																																																																				0.527	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222	
ITPR1	3708	broad.mit.edu	37	3	4718460	4718460	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:4718460A>G	ENST00000443694.2	+	21	2897	c.2897A>G	c.(2896-2898)aAg>aGg	p.K966R	ITPR1_ENST00000354582.6_Missense_Mutation_p.K981R|ITPR1_ENST00000357086.4_Missense_Mutation_p.K972R|ITPR1_ENST00000302640.8_Missense_Mutation_p.K966R|ITPR1_ENST00000456211.2_Missense_Mutation_p.K957R|ITPR1_ENST00000423119.2_Missense_Mutation_p.K972R|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	981					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.K957R(1)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	ATGGACACCAAGCTGAAGATC	0.547																																					p.K972R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2915G	3						.						67.0	67.0	67.0					3																	4718460		2030	4191	6221	4693460	SO:0001583	missense	3708	exon24			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.2897A>G	3.37:g.4718460A>G	ENSP00000401671:p.Lys966Arg		4693460	NM_001099952	E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.458403	0.84317	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.95342	-3.59;-3.63;-3.68;-3.68;-3.58;-3.59	4.1	4.1	0.47936	.	0.000000	0.85682	D	0.000000	D	0.97256	0.9103	M	0.88906	2.99	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.998	P;D;D	0.71184	0.905;0.972;0.925	D	0.97978	1.0347	10	0.87932	D	0	.	13.5398	0.61668	1.0:0.0:0.0:0.0	.	966;981;972	E7EPX7;Q14643;G5E9P1	.;ITPR1_HUMAN;.	R	981;966;981;972;972;957;966	ENSP00000306253:K966R;ENSP00000346595:K981R;ENSP00000405934:K972R;ENSP00000349597:K972R;ENSP00000397885:K957R;ENSP00000401671:K966R	ENSP00000306253:K966R	K	+	2	0	ITPR1	4693460	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.624000	0.90961	1.849000	0.53698	0.260000	0.18958	AAG		0.547	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222	
SRGAP3	9901	broad.mit.edu	37	3	9166547	9166547	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:9166547G>A	ENST00000383836.3	-	2	549	c.122C>T	c.(121-123)tCg>tTg	p.S41L	SRGAP3_ENST00000360413.3_Missense_Mutation_p.S41L|SRGAP3_ENST00000433332.3_5'UTR	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	41	F-BAR domain.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.S41L(1)	SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CTGCAGTCGCGACTCTGATTG	0.592			T	RAF1	pilocytic astrocytoma																																p.S41L			Dom	yes		3	3p25.3	9901	SLIT-ROBO Rho GTPase activating protein 3		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C122T	3						.						50.0	51.0	50.0					3																	9166547		2203	4300	6503	9141547	SO:0001583	missense	9901	exon2			AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.122C>T	3.37:g.9166547G>A	ENSP00000373347:p.Ser41Leu		9141547	NM_014850	Q8IX13|Q8IZV8	Missense_Mutation	SNP	ENST00000383836.3	37	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	g	7.600	0.672511	0.14776	.	.	ENSG00000196220	ENST00000383836;ENST00000360413	T;T	0.17528	2.27;2.27	4.82	4.82	0.62117	Fps/Fes/Fer/CIP4 homology (3);	0.066920	0.64402	D	0.000008	T	0.05868	0.0153	N	0.03324	-0.35	0.46260	D	0.998951	P;P;P	0.45240	0.854;0.516;0.572	B;B;B	0.32090	0.138;0.054;0.14	T	0.31052	-0.9957	10	0.02654	T	1	.	17.5079	0.87752	0.0:0.0:1.0:0.0	.	41;41;41	C7TPG7;O43295-2;O43295	.;.;SRGP2_HUMAN	L	41	ENSP00000373347:S41L;ENSP00000353587:S41L	ENSP00000353587:S41L	S	-	2	0	SRGAP3	9141547	1.000000	0.71417	0.998000	0.56505	0.872000	0.50106	5.573000	0.67417	2.231000	0.72958	0.457000	0.33378	TCG		0.592	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3		
TTLL3	26140	broad.mit.edu	37	3	9870670	9870670	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:9870670T>C	ENST00000547186.1	+	10	1361	c.1145T>C	c.(1144-1146)aTc>aCc	p.I382T	TTLL3_ENST00000427853.3_Missense_Mutation_p.I170T|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.I443T|TTLL3_ENST00000466245.1_3'UTR|TTLL3_ENST00000383827.1_Missense_Mutation_p.I170T|TTLL3_ENST00000426895.4_Missense_Mutation_p.I525T|TTLL3_ENST00000455274.1_Missense_Mutation_p.I170T|TTLL3_ENST00000430793.1_Missense_Mutation_p.I170T|TTLL3_ENST00000397241.1_Missense_Mutation_p.I170T	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	382	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					AACAACTCCATCCAGAAGCAC	0.572																																					p.I525T												.	.	0			c.T1574C	3						.						76.0	75.0	75.0					3																	9870670		2203	4300	6503	9845670	SO:0001583	missense	26140	exon10				CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"""Tubulin tyrosine ligase-like family"""	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.1145T>C	3.37:g.9870670T>C	ENSP00000446659:p.Ile382Thr		9845670	NM_001025930	Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Missense_Mutation	SNP	ENST00000547186.1	37		.	.	.	.	.	.	.	.	.	.	T	22.9	4.352107	0.82132	.	.	ENSG00000250151;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021	ENST00000397256;ENST00000426895;ENST00000547186;ENST00000397241;ENST00000427853;ENST00000443148;ENST00000383827;ENST00000455274;ENST00000430793	T;T;T;T;T;T;T;T;T	0.09163	3.01;3.01;3.01;3.01;3.01;3.01;3.01;3.01;3.01	5.14	5.14	0.70334	.	0.000000	0.85682	U	0.000000	T	0.45558	0.1348	H	0.95745	3.715	0.58432	D	0.999999	D;D;D;D;D;D	0.76494	0.999;0.997;0.999;0.999;0.999;0.999	D;D;D;D;D;D	0.81914	0.995;0.981;0.979;0.992;0.979;0.993	T	0.62666	-0.6806	10	0.87932	D	0	.	14.6495	0.68786	0.0:0.0:0.0:1.0	.	321;170;170;382;443;170	B4DM47;Q9Y4R7-2;Q9Y4R7-5;Q9Y4R7;E7ETI0;C9JSD3	.;.;.;TTLL3_HUMAN;.;.	T	443;525;382;170;170;320;170;170;170	ENSP00000380427:I443T;ENSP00000392549:I525T;ENSP00000446659:I382T;ENSP00000380416:I170T;ENSP00000394462:I170T;ENSP00000398097:I320T;ENSP00000373338:I170T;ENSP00000409632:I170T;ENSP00000403874:I170T	ENSP00000380416:I170T	I	+	2	0	ARPC4-TTLL3;TTLL3	9845670	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.999000	0.70665	1.942000	0.56320	0.460000	0.39030	ATC		0.572	TTLL3-203	KNOWN	basic	protein_coding	protein_coding		NM_001025930.2	
IL17RC	84818	broad.mit.edu	37	3	9969880	9969880	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:9969880A>G	ENST00000295981.3	+	10	1284	c.1066A>G	c.(1066-1068)Acg>Gcg	p.T356A	IL17RC_ENST00000455057.1_Missense_Mutation_p.T270A|IL17RC_ENST00000413608.1_Missense_Mutation_p.T285A|IL17RC_ENST00000416074.2_Missense_Mutation_p.T141A|IL17RC_ENST00000403601.3_Missense_Mutation_p.T285A|IL17RC_ENST00000383812.4_Missense_Mutation_p.T270A|IL17RC_ENST00000498214.1_3'UTR	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	356					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)	p.T356A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTCCGTTAGGACGAACATCTG	0.642																																					p.T270A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A808G	3						.						110.0	105.0	106.0					3																	9969880		2203	4300	6503	9944880	SO:0001583	missense	84818	exon9			BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"""Interleukins and interleukin receptors"""	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.1066A>G	3.37:g.9969880A>G	ENSP00000295981:p.Thr356Ala		9944880	NM_032732	E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Missense_Mutation	SNP	ENST00000295981.3	37	CCDS2590.1	.	.	.	.	.	.	.	.	.	.	A	10.09	1.253717	0.22965	.	.	ENSG00000163702	ENST00000383812;ENST00000438091;ENST00000295981;ENST00000436503;ENST00000403601;ENST00000416074;ENST00000455057;ENST00000413608	T;T;T;T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56	5.5	4.3	0.51218	.	0.562256	0.17674	N	0.165854	T	0.12646	0.0307	L	0.54323	1.7	0.09310	N	1	P;B;P;P;B;B;P;P;B	0.44090	0.705;0.2;0.58;0.58;0.366;0.366;0.705;0.826;0.12	B;B;B;B;B;B;B;B;B	0.39152	0.269;0.045;0.138;0.138;0.052;0.052;0.269;0.292;0.077	T	0.14200	-1.0481	10	0.20519	T	0.43	-4.088	8.7586	0.34661	0.9119:0.0:0.0881:0.0	.	270;141;270;285;285;285;270;356;285	Q8NAC3-4;F5H4Z2;E9PHG1;A8BWD5;E9PHJ6;A8BWC9;Q8NAC3-3;Q8NAC3;Q8NAC3-2	.;.;.;.;.;.;.;I17RC_HUMAN;.	A	270;245;356;260;285;141;270;285	ENSP00000373323:T270A;ENSP00000414609:T245A;ENSP00000295981:T356A;ENSP00000401128:T260A;ENSP00000384969:T285A;ENSP00000395315:T141A;ENSP00000407894:T270A;ENSP00000396064:T285A	ENSP00000295981:T356A	T	+	1	0	IL17RC	9944880	0.994000	0.37717	0.203000	0.23512	0.202000	0.24057	2.937000	0.48979	0.983000	0.38602	0.374000	0.22700	ACG		0.642	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2	NM_032732	
ZNF385D	79750	broad.mit.edu	37	3	21478633	21478633	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:21478633C>T	ENST00000281523.2	-	5	1020	c.502G>A	c.(502-504)Gtt>Att	p.V168I	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	168	Thr-rich.					nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.V168I(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GTTGTCATAACACTGCTTTTG	0.443																																					p.V168I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G502A	3						.						175.0	161.0	166.0					3																	21478633		2203	4300	6503	21453637	SO:0001583	missense	79750	exon5			BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.502G>A	3.37:g.21478633C>T	ENSP00000281523:p.Val168Ile		21453637	NM_024697		Missense_Mutation	SNP	ENST00000281523.2	37	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.499148	0.44455	.	.	ENSG00000151789	ENST00000281523	T	0.30981	1.51	6.09	5.22	0.72569	.	0.511855	0.21067	N	0.080724	T	0.20170	0.0485	N	0.14661	0.345	0.32447	N	0.54598	B	0.14438	0.01	B	0.12837	0.008	T	0.12451	-1.0547	10	0.20519	T	0.43	-6.1349	15.645	0.77042	0.0:0.9343:0.0:0.0657	.	168	Q9H6B1	Z385D_HUMAN	I	168	ENSP00000281523:V168I	ENSP00000281523:V168I	V	-	1	0	ZNF385D	21453637	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	1.273000	0.33121	1.590000	0.49995	-0.137000	0.14449	GTT		0.443	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697	
UBE2E1	7324	broad.mit.edu	37	3	23852962	23852962	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:23852962A>G	ENST00000306627.3	+	3	383	c.164A>G	c.(163-165)gAg>gGg	p.E55G	UBE2E1_ENST00000467766.1_Missense_Mutation_p.E22G|UBE2E1_ENST00000346855.3_Intron|UBE2E1_ENST00000424381.1_Missense_Mutation_p.E22G|UBE2E1_ENST00000475680.1_3'UTR	NM_003341.4	NP_003332.1	P51965	UB2E1_HUMAN	ubiquitin-conjugating enzyme E2E 1	55					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cytokine-mediated signaling pathway (GO:0019221)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ISG15-protein conjugation (GO:0032020)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|ISG15 ligase activity (GO:0042296)|ubiquitin-protein transferase activity (GO:0004842)	p.E55G(1)		breast(1)|endometrium(2)|large_intestine(4)	7						ATTCAGAAGGAGCTGGCGGAC	0.453																																					p.E55G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A164G	3						.						134.0	131.0	132.0					3																	23852962		2203	4300	6503	23827966	SO:0001583	missense	7324	exon3			X92963	CCDS2638.1, CCDS2639.1, CCDS56244.1	3p24.2	2011-05-19	2011-05-19		ENSG00000170142	ENSG00000170142		"""Ubiquitin-conjugating enzymes E2"""	12477	protein-coding gene	gene with protein product		602916	"""ubiquitin-conjugating enzyme E2E 1 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2E 1 (UBC4/5 homolog, yeast)"""			8576257	Standard	NM_003341		Approved	UbcH6	uc003cch.3	P51965	OTTHUMG00000130483	ENST00000306627.3:c.164A>G	3.37:g.23852962A>G	ENSP00000303709:p.Glu55Gly		23827966	NM_003341	B2RBX4|C9J8K2|K4DI90	Missense_Mutation	SNP	ENST00000306627.3	37	CCDS2638.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.687381	0.88639	.	.	ENSG00000170142	ENST00000306627;ENST00000442670;ENST00000424381;ENST00000452012	D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83	4.81	4.81	0.61882	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.502459	0.17019	N	0.190214	D	0.95837	0.8645	H	0.99261	4.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.97171	0.9844	10	0.87932	D	0	.	14.3784	0.66895	1.0:0.0:0.0:0.0	.	22;55	B7Z306;P51965	.;UB2E1_HUMAN	G	55;55;22;5	ENSP00000303709:E55G;ENSP00000410652:E55G;ENSP00000411351:E22G;ENSP00000393088:E5G	ENSP00000303709:E55G	E	+	2	0	UBE2E1	23827966	1.000000	0.71417	0.993000	0.49108	0.838000	0.47535	8.636000	0.91010	1.799000	0.52666	0.379000	0.24179	GAG		0.453	UBE2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252882.2	NM_003341	
RPL15	6138	broad.mit.edu	37	3	23960025	23960025	+	Silent	SNP	T	T	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:23960025T>A	ENST00000307839.5	+	3	906	c.267T>A	c.(265-267)gtT>gtA	p.V89V	RPL15_ENST00000354811.5_Silent_p.V89V|NKIRAS1_ENST00000421515.2_Intron|NKIRAS1_ENST00000425478.2_5'Flank|RPL15_ENST00000435882.1_Silent_p.V89V|NKIRAS1_ENST00000443659.2_5'Flank|NKIRAS1_ENST00000437230.1_5'Flank|NKIRAS1_ENST00000415901.2_5'Flank|RPL15_ENST00000415719.1_Silent_p.V89V|RPL15_ENST00000413699.1_Silent_p.V89V|RPL15_ENST00000456530.2_Silent_p.V89V|NKIRAS1_ENST00000416026.2_5'Flank|NKIRAS1_ENST00000388759.3_5'Flank|NKIRAS1_ENST00000412028.1_5'Flank	NM_001253379.1|NM_001253380.1|NM_002948.3	NP_001240308.1|NP_001240309.1|NP_002939.2	P61313	RL15_HUMAN	ribosomal protein L15	89					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.V89V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						ATCATGGTGTTAACCAGCTAA	0.483																																					p.V89V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T267A	3						.						122.0	121.0	122.0					3																	23960025		2203	4298	6501	23935029	SO:0001819	synonymous_variant	6138	exon3			AB007173	CCDS2640.1, CCDS58818.1	3p24.1	2011-04-06			ENSG00000174748	ENSG00000174748		"""L ribosomal proteins"""	10306	protein-coding gene	gene with protein product		604174				9582194	Standard	NM_002948		Approved	RPL10, RPLY10, RPYL10, EC45, L15	uc003ccp.3	P61313	OTTHUMG00000130485	ENST00000307839.5:c.267T>A	3.37:g.23960025T>A			23935029	NM_002948	P39030|P41051|Q5U0C0|Q642I1|Q6IPX6|Q8WYP2|Q96C44|Q9H2E5	Silent	SNP	ENST00000307839.5	37	CCDS2640.1																																																																																				0.483	RPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252885.3	NM_002948	
CMC1	152100	broad.mit.edu	37	3	28304852	28304852	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:28304852G>A	ENST00000466830.1	+	2	289	c.90G>A	c.(88-90)agG>agA	p.R30R	CMC1_ENST00000423894.1_Intron	NM_182523.1	NP_872329.1	Q7Z7K0	COXM1_HUMAN	C-x(9)-C motif containing 1	30						mitochondrion (GO:0005739)	metal ion binding (GO:0046872)	p.R30R(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)	5						CCAAAGAGAGGTGTTCTGAAC	0.299																																					p.R30R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G90A	3						.						55.0	59.0	58.0					3																	28304852		2203	4295	6498	28279856	SO:0001819	synonymous_variant	152100	exon2			BC052644	CCDS33722.1	3p24.1	2013-10-18	2013-10-18	2008-06-20	ENSG00000187118	ENSG00000187118			28783	protein-coding gene	gene with protein product		615166	"""chromosome 3 open reading frame 68"", ""COX assembly mitochondrial protein 1 homolog (S. cerevisiae)"""	C3orf68		18443040	Standard	NM_182523		Approved	MGC61571	uc003cea.3	Q7Z7K0	OTTHUMG00000155660	ENST00000466830.1:c.90G>A	3.37:g.28304852G>A			28279856	NM_182523	Q68DJ7	Silent	SNP	ENST00000466830.1	37	CCDS33722.1	.	.	.	.	.	.	.	.	.	.	G	8.765	0.924435	0.18056	.	.	ENSG00000187118	ENST00000418849	.	.	.	5.93	1.11	0.20524	.	.	.	.	.	T	0.55800	0.1943	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48375	-0.9041	4	.	.	.	-13.6657	8.7751	0.34756	0.3873:0.0:0.6127:0.0	.	.	.	.	M	37	.	.	V	+	1	0	CMC1	28279856	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	0.672000	0.25187	0.282000	0.22254	0.557000	0.71058	GTG		0.299	CMC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341087.1	NM_182523	
MLH1	4292	broad.mit.edu	37	3	37035064	37035064	+	Missense_Mutation	SNP	G	G	A	rs63751892|rs267607702		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:37035064G>A	ENST00000231790.2	+	1	242	c.26G>A	c.(25-27)cGg>cAg	p.R9Q	MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000539477.1_5'Flank|MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000455445.2_5'Flank|EPM2AIP1_ENST00000322716.5_5'Flank|MLH1_ENST00000458205.2_5'Flank	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	9					ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.R9Q(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						GGGGTTATTCGGCGGCTGGAC	0.562		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.R9Q		yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	E.coli MutL homolog gene		"""E, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G26A	3						.						105.0	93.0	97.0					3																	37035064		2203	4300	6503	37010068	SO:0001583	missense	4292	exon1	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.26G>A	3.37:g.37035064G>A	ENSP00000231790:p.Arg9Gln		37010068	NM_000249	B4DI13|B4DQ11|E9PCU2	Missense_Mutation	SNP	ENST00000231790.2	37	CCDS2663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.162061|6.162061	0.97338|0.97338	.|.	.|.	ENSG00000076242|ENSG00000076242	ENST00000456676|ENST00000231790	.|D	.|0.90197	.|-2.63	5.98|5.98	5.98|5.98	0.97165|0.97165	.|DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (2);	.|0.188452	.|0.46758	.|D	.|0.000265	D|D	0.83843|0.83843	0.5342|0.5342	N|N	0.26130|0.26130	0.795|0.795	0.80722|0.80722	D|D	1|1	.|P;P	.|0.47604	.|0.898;0.898	.|B;B	.|0.34180	.|0.177;0.126	D|D	0.84405|0.84405	0.0562|0.0562	5|10	.|0.37606	.|T	.|0.19	-16.4623|-16.4623	19.2211|19.2211	0.93797|0.93797	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|9;9	.|Q53GX1;P40692	.|.;MLH1_HUMAN	S|Q	1|9	.|ENSP00000231790:R9Q	.|ENSP00000231790:R9Q	G|R	+|+	1|2	0|0	MLH1|MLH1	37010068|37010068	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.922000|0.922000	0.55478|0.55478	8.788000|8.788000	0.91834|0.91834	2.838000|2.838000	0.97847|0.97847	0.563000|0.563000	0.77884|0.77884	GGC|CGG		0.562	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249	
MLH1	4292	broad.mit.edu	37	3	37089046	37089046	+	Missense_Mutation	SNP	T	T	A	rs63750147|rs63749979|rs63749868		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:37089046T>A	ENST00000231790.2	+	16	1984	c.1768T>A	c.(1768-1770)Tta>Ata	p.L590I	MLH1_ENST00000536378.1_Missense_Mutation_p.L349I|MLH1_ENST00000539477.1_Missense_Mutation_p.L349I|MLH1_ENST00000435176.1_Missense_Mutation_p.L492I|MLH1_ENST00000455445.2_Missense_Mutation_p.L349I|MLH1_ENST00000458205.2_Missense_Mutation_p.L349I	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	590	Interaction with EXO1.				ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.L590I(1)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						CATGCTTGCCTTAGATAGTCC	0.478		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.L590I		yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	E.coli MutL homolog gene		"""E, O"""	.	.	2	Substitution - Missense(1)|Whole gene deletion(1)	ovary(1)|large_intestine(1)	c.T1768A	3						.						111.0	104.0	107.0					3																	37089046		2203	4300	6503	37064050	SO:0001583	missense	4292	exon16	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.1768T>A	3.37:g.37089046T>A	ENSP00000231790:p.Leu590Ile		37064050	NM_000249	B4DI13|B4DQ11|E9PCU2	Missense_Mutation	SNP	ENST00000231790.2	37	CCDS2663.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.204811	0.79127	.	.	ENSG00000076242	ENST00000231790;ENST00000383761;ENST00000458205;ENST00000539477;ENST00000455445;ENST00000435176;ENST00000536378	D;D;D;D;D;D	0.96856	-3.08;-3.83;-3.83;-3.83;-3.08;-4.15	5.56	-1.14	0.09741	.	0.000000	0.64402	D	0.000001	D	0.96914	0.8992	M	0.71296	2.17	0.58432	D	0.999999	D;D;D;P	0.71674	0.998;0.995;0.998;0.835	D;D;D;P	0.78314	0.991;0.991;0.978;0.854	D	0.95043	0.8180	10	0.56958	D	0.05	-8.0268	10.326	0.43793	0.0:0.328:0.0:0.672	.	492;590;590;590	E9PCU2;B2R6K0;Q53GX1;P40692	.;.;.;MLH1_HUMAN	I	590;454;349;349;349;492;349	ENSP00000231790:L590I;ENSP00000402667:L349I;ENSP00000443665:L349I;ENSP00000398272:L349I;ENSP00000402564:L492I;ENSP00000444286:L349I	ENSP00000231790:L590I	L	+	1	2	MLH1	37064050	0.716000	0.27956	0.935000	0.37517	0.855000	0.48748	1.123000	0.31308	-0.134000	0.11516	0.477000	0.44152	TTA		0.478	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249	
LRRFIP2	9209	broad.mit.edu	37	3	37100367	37100367	+	Missense_Mutation	SNP	C	C	T	rs139151890	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:37100367C>T	ENST00000336686.4	-	25	1864	c.1784G>A	c.(1783-1785)cGa>cAa	p.R595Q	MLH1_ENST00000536378.1_Intron|LRRFIP2_ENST00000354379.4_Missense_Mutation_p.R274Q|LRRFIP2_ENST00000421307.1_Missense_Mutation_p.R595Q|LRRFIP2_ENST00000421276.2_Missense_Mutation_p.R298Q|LRRFIP2_ENST00000440230.1_Missense_Mutation_p.R298Q|LRRFIP2_ENST00000396428.2_Missense_Mutation_p.R377Q			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	595					Wnt signaling pathway (GO:0016055)		LRR domain binding (GO:0030275)	p.R595Q(1)|p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GCATTTCTGTCGTTCCTCCTC	0.448													C|||	3	0.000599042	0.0008	0.0	5008	,	,		18650	0.002		0.0	False		,,,				2504	0.0				p.R274Q												.	.	2	Substitution - Missense(1)|Whole gene deletion(1)	ovary(1)|large_intestine(1)	c.G821A	3						.	C	GLN/ARG,GLN/ARG,GLN/ARG	5,4401	9.9+/-24.2	0,5,2198	144.0	120.0	128.0		893,1784,821	3.2	1.0	3	dbSNP_134	128	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	LRRFIP2	NM_001134369.1,NM_006309.2,NM_017724.2	43,43,43	0,6,6497	TT,TC,CC		0.0116,0.1135,0.0461	benign,benign,benign	298/425,595/722,274/401	37100367	6,13000	2203	4300	6503	37075371	SO:0001583	missense	9209	exon11			AF115509	CCDS2664.1, CCDS2665.1, CCDS46791.1, CCDS63592.1	3p22.1	2008-07-18			ENSG00000093167	ENSG00000093167			6703	protein-coding gene	gene with protein product		614043				10366446	Standard	NM_017724		Approved	HUFI-2	uc003cgp.2	Q9Y608	OTTHUMG00000130796	ENST00000336686.4:c.1784G>A	3.37:g.37100367C>T	ENSP00000338727:p.Arg595Gln		37075371	NM_017724	A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Missense_Mutation	SNP	ENST00000336686.4	37	CCDS2664.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.224377	0.58668	0.001135	1.16E-4	ENSG00000093167	ENST00000421307;ENST00000354379;ENST00000336686;ENST00000421276;ENST00000396428;ENST00000440230	T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96	5.9	3.17	0.36434	.	0.000000	0.85682	D	0.000000	T	0.42877	0.1222	M	0.81497	2.545	0.50171	D	0.99985	B;B;B;B	0.32573	0.376;0.01;0.002;0.007	B;B;B;B	0.28139	0.086;0.01;0.013;0.034	T	0.35574	-0.9783	10	0.49607	T	0.09	-3.6773	10.9582	0.47370	0.0:0.7631:0.0:0.2369	.	377;274;298;595	A8MXR0;Q9Y608-2;Q9Y608-4;Q9Y608	.;.;.;LRRF2_HUMAN	Q	595;274;595;298;377;298	ENSP00000392217:R595Q;ENSP00000346349:R274Q;ENSP00000338727:R595Q;ENSP00000416364:R298Q;ENSP00000379705:R377Q;ENSP00000405480:R298Q	ENSP00000338727:R595Q	R	-	2	0	LRRFIP2	37075371	0.103000	0.21917	0.998000	0.56505	0.989000	0.77384	0.874000	0.28065	0.411000	0.25702	0.650000	0.86243	CGA		0.448	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253335.3	NM_006309	
DLEC1	9940	broad.mit.edu	37	3	38149194	38149194	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:38149194G>A	ENST00000308059.6	+	20	3005	c.2984G>A	c.(2983-2985)gGc>gAc	p.G995D	DLEC1_ENST00000452631.2_Missense_Mutation_p.G995D|DLEC1_ENST00000346219.3_Missense_Mutation_p.G995D					deleted in lung and esophageal cancer 1									p.G995D(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CTTATCAATGGCACGCTCCTG	0.577																																					p.G995D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2984A	3						.						89.0	91.0	91.0					3																	38149194		2055	4218	6273	38124198	SO:0001583	missense	9940	exon20			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.2984G>A	3.37:g.38149194G>A	ENSP00000308597:p.Gly995Asp		38124198	NM_007337		Missense_Mutation	SNP	ENST00000308059.6	37	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	8.832	0.940058	0.18281	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.40225	1.04;1.04;1.04	5.05	4.17	0.49024	.	0.434729	0.22862	N	0.054727	T	0.37404	0.1002	M	0.65975	2.015	0.32128	N	0.587102	P;P;P;P	0.43352	0.799;0.589;0.799;0.804	B;B;B;B	0.42522	0.39;0.229;0.297;0.311	T	0.36744	-0.9735	10	0.12430	T	0.62	-22.3797	6.8235	0.23870	0.1823:0.0:0.8177:0.0	.	995;995;995;995	F8W6T4;B7ZW06;Q9Y238-3;Q9Y238	.;.;.;DLEC1_HUMAN	D	995	ENSP00000308597:G995D;ENSP00000315914:G995D;ENSP00000410427:G995D	ENSP00000308597:G995D	G	+	2	0	DLEC1	38124198	1.000000	0.71417	0.998000	0.56505	0.261000	0.26267	3.786000	0.55431	2.327000	0.79052	0.561000	0.74099	GGC		0.577	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337	
SCN5A	6331	broad.mit.edu	37	3	38592826	38592826	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:38592826G>A	ENST00000333535.4	-	28	5186	c.5037C>T	c.(5035-5037)ttC>ttT	p.F1679F	SCN5A_ENST00000449557.2_Silent_p.F1625F|SCN5A_ENST00000451551.2_Silent_p.F1625F|SCN5A_ENST00000413689.1_Silent_p.F1679F|SCN5A_ENST00000423572.2_Silent_p.F1678F|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000414099.2_Silent_p.F1661F|SCN5A_ENST00000455624.2_Silent_p.F1646F|SCN5A_ENST00000443581.1_Silent_p.F1678F|SCN5A_ENST00000425664.1_Silent_p.F1661F|SCN5A_ENST00000450102.2_Silent_p.F1625F			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1679					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.F1679F(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TGACATAAGCGAAGTTGGCCA	0.552																																					p.F1661F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4983T	3						.						175.0	172.0	173.0					3																	38592826		2203	4300	6503	38567830	SO:0001819	synonymous_variant	6331	exon27			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5037C>T	3.37:g.38592826G>A			38567830	NM_001099405	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	CCDS46796.1																																																																																				0.552	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056	
TRAK1	22906	broad.mit.edu	37	3	42264534	42264534	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:42264534T>G	ENST00000327628.5	+	16	2567	c.2167T>G	c.(2167-2169)Tcc>Gcc	p.S723A	TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Missense_Mutation_p.S665A|RNU4-78P_ENST00000410940.1_RNA	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	723					endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.S702A(1)|p.S665A(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CCTGGCTGAGTCCTTCACTAA	0.607																																					p.S723A	GBM(44;195 884 22595 31865 41850)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T2167G	3						.						71.0	80.0	77.0					3																	42264534		2115	4232	6347	42239538	SO:0001583	missense	22906	exon16				CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.2167T>G	3.37:g.42264534T>G	ENSP00000328998:p.Ser723Ala		42239538	NM_001042646	E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	ENST00000327628.5	37	CCDS43072.1	.	.	.	.	.	.	.	.	.	.	T	18.23	3.577745	0.65878	.	.	ENSG00000182606	ENST00000327628;ENST00000543338;ENST00000396175	T;T	0.48201	0.82;0.82	5.32	5.32	0.75619	Trafficking kinesin-binding protein domain (1);	0.215867	0.41938	D	0.000794	T	0.50514	0.1620	L	0.28192	0.835	0.80722	D	1	D;D	0.60160	0.987;0.973	P;P	0.59357	0.856;0.761	T	0.44847	-0.9301	10	0.29301	T	0.29	.	14.4509	0.67385	0.0:0.0:0.0:1.0	.	665;723	C9JC32;Q9UPV9	.;TRAK1_HUMAN	A	723;702;665	ENSP00000328998:S723A;ENSP00000379478:S665A	ENSP00000328998:S723A	S	+	1	0	TRAK1	42239538	1.000000	0.71417	0.993000	0.49108	0.980000	0.70556	5.918000	0.69996	2.034000	0.60081	0.482000	0.46254	TCC		0.607	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965	
ZNF445	353274	broad.mit.edu	37	3	44496673	44496673	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:44496673G>A	ENST00000396077.2	-	3	716	c.369C>T	c.(367-369)ggC>ggT	p.G123G	ZNF445_ENST00000425708.2_Silent_p.G123G	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	123	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G123G(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		CAGCCTCCTCGCCACTCTCAG	0.607																																					p.G123G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C369T	3						.						62.0	58.0	59.0					3																	44496673		2203	4300	6503	44471677	SO:0001819	synonymous_variant	353274	exon3			AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.369C>T	3.37:g.44496673G>A			44471677	NM_181489	Q3MJD1	Silent	SNP	ENST00000396077.2	37	CCDS2713.1																																																																																				0.607	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489	
ZKSCAN7	55888	broad.mit.edu	37	3	44612665	44612665	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:44612665A>G	ENST00000273320.3	+	6	2492	c.2063A>G	c.(2062-2064)gAa>gGa	p.E688G	RP11-944L7.5_ENST00000419137.1_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.E688G|ZKSCAN7_ENST00000431636.1_Intron	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	688					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E688G(1)									CATACTGGGGAAAAACCCTAT	0.423																																					p.E688G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2063G	3						.						114.0	120.0	118.0					3																	44612665		2203	4300	6503	44587669	SO:0001583	missense	55888	exon6			L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12955	protein-coding gene	gene with protein product			"""zinc finger protein 64"", ""zinc finger protein 448"", ""zinc finger protein 167"""	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.2063A>G	3.37:g.44612665A>G	ENSP00000273320:p.Glu688Gly		44587669	NM_018651	A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Missense_Mutation	SNP	ENST00000273320.3	37	CCDS2715.1	.	.	.	.	.	.	.	.	.	.	.	16.19	3.054539	0.55218	.	.	ENSG00000196345	ENST00000426540;ENST00000273320;ENST00000315777	T;T	0.27557	1.66;1.66	4.18	4.18	0.49190	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33834	N	0.004513	T	0.48660	0.1512	L	0.53671	1.685	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.50676	-0.8800	10	0.72032	D	0.01	-10.707	12.3861	0.55333	1.0:0.0:0.0:0.0	.	688	Q9P0L1	ZN167_HUMAN	G	688;688;126	ENSP00000395524:E688G;ENSP00000273320:E688G	ENSP00000273320:E688G	E	+	2	0	ZNF167	44587669	0.998000	0.40836	0.977000	0.42913	0.975000	0.68041	4.025000	0.57225	1.763000	0.52060	0.523000	0.50628	GAA		0.423	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4	NM_018651	
ZNF502	91392	broad.mit.edu	37	3	44762458	44762458	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:44762458A>G	ENST00000296091.4	+	4	405	c.149A>G	c.(148-150)tAc>tGc	p.Y50C	ZNF502_ENST00000436624.2_Missense_Mutation_p.Y50C|ZNF502_ENST00000449836.1_Missense_Mutation_p.Y50C	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	50					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.Y50C(1)		NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		GAGGATGAATACCAAGATTCT	0.423																																					p.Y50C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A149G	3						.						75.0	77.0	76.0					3																	44762458		2203	4300	6503	44737462	SO:0001583	missense	91392	exon4			AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"""Zinc fingers, C2H2-type"""	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.149A>G	3.37:g.44762458A>G	ENSP00000296091:p.Tyr50Cys		44737462	NM_033210		Missense_Mutation	SNP	ENST00000296091.4	37	CCDS2719.1	.	.	.	.	.	.	.	.	.	.	A	10.12	1.263452	0.23051	.	.	ENSG00000196653	ENST00000449836;ENST00000296091;ENST00000436624;ENST00000427783;ENST00000411443	T;T;T;T	0.51071	3.35;3.35;3.35;0.72	4.74	-4.26	0.03755	.	.	.	.	.	T	0.19208	0.0461	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15065	-1.0450	9	0.38643	T	0.18	0.7213	0.521	0.00612	0.1754:0.2643:0.2157:0.3447	.	50	Q8TBZ5	ZN502_HUMAN	C	50	ENSP00000397390:Y50C;ENSP00000296091:Y50C;ENSP00000406469:Y50C;ENSP00000401717:Y50C	ENSP00000296091:Y50C	Y	+	2	0	ZNF502	44737462	0.000000	0.05858	0.002000	0.10522	0.150000	0.21749	-0.646000	0.05403	-0.267000	0.09325	-0.336000	0.08194	TAC		0.423	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	NM_033210	
FYCO1	79443	broad.mit.edu	37	3	46009411	46009411	+	Missense_Mutation	SNP	C	C	T	rs533441275	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:46009411C>T	ENST00000296137.2	-	8	1620	c.1415G>A	c.(1414-1416)cGg>cAg	p.R472Q	FYCO1_ENST00000535325.1_Missense_Mutation_p.R472Q	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	472					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)	p.R472Q(1)		NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTCCTGCAGCCGTCGCCAGAG	0.637													C|||	2	0.000399361	0.0	0.0	5008	,	,		17937	0.0		0.0	False		,,,				2504	0.002				p.R472Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1415A	3						.						79.0	89.0	86.0					3																	46009411		2203	4300	6503	45984415	SO:0001583	missense	79443	exon8			AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.1415G>A	3.37:g.46009411C>T	ENSP00000296137:p.Arg472Gln		45984415	NM_024513	B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.640977	0.00799	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.14391	2.51;2.52	5.55	1.65	0.23941	.	0.325207	0.33631	N	0.004708	T	0.01800	0.0057	N	0.00069	-2.28	0.27602	N	0.948935	B;B	0.13145	0.003;0.007	B;B	0.04013	0.001;0.001	T	0.44406	-0.9330	10	0.02654	T	1	-6.3364	7.9026	0.29744	0.0:0.2639:0.0:0.7361	.	472;472	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	Q	472	ENSP00000296137:R472Q;ENSP00000441178:R472Q	ENSP00000296137:R472Q	R	-	2	0	FYCO1	45984415	1.000000	0.71417	0.166000	0.22797	0.035000	0.12851	3.928000	0.56506	0.036000	0.15547	-0.302000	0.09304	CGG		0.637	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513	
PTH1R	5745	broad.mit.edu	37	3	46940809	46940809	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:46940809C>T	ENST00000313049.5	+	8	1054	c.851C>T	c.(850-852)gCt>gTt	p.A284V	PTH1R_ENST00000430002.2_Missense_Mutation_p.A284V|PTH1R_ENST00000449590.1_Missense_Mutation_p.A284V|PTH1R_ENST00000418619.1_Missense_Mutation_p.A284V			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	284					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|bone mineralization (GO:0030282)|bone resorption (GO:0045453)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|osteoblast development (GO:0002076)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|skeletal system development (GO:0001501)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	parathyroid hormone receptor activity (GO:0004991)|peptide hormone binding (GO:0017046)|protein self-association (GO:0043621)	p.A284V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19					Preotact(DB05829)|Teriparatide(DB06285)	TGCAGGGTGGCTGTGACCTTC	0.617																																					p.A284V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C851T	3						.						136.0	120.0	126.0					3																	46940809		2203	4300	6503	46915813	SO:0001583	missense	5745	exon9				CCDS2747.1	3p22-p21.1	2012-08-10	2008-11-18	2008-11-18	ENSG00000160801	ENSG00000160801		"""GPCR / Class B : Parathyroid hormone receptors"""	9608	protein-coding gene	gene with protein product		168468	"""parathyroid hormone receptor 1"""	PTHR, PTHR1		8020952	Standard	NM_001184744		Approved		uc021wxg.1	Q03431	OTTHUMG00000133515	ENST00000313049.5:c.851C>T	3.37:g.46940809C>T	ENSP00000321999:p.Ala284Val		46915813	NM_001184744	Q2M1U3	Missense_Mutation	SNP	ENST00000313049.5	37	CCDS2747.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.683514	0.29872	.	.	ENSG00000160801	ENST00000449590;ENST00000418619;ENST00000427125;ENST00000430002;ENST00000313049;ENST00000313063	T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32	5.43	5.43	0.79202	GPCR, family 2-like (1);	.	.	.	.	T	0.23451	0.0567	N	0.12637	0.245	0.49213	D	0.999763	B	0.26672	0.156	B	0.29267	0.1	T	0.07481	-1.0770	9	0.09843	T	0.71	.	18.2253	0.89915	0.0:1.0:0.0:0.0	.	284	Q03431	PTH1R_HUMAN	V	284;284;284;284;284;558	ENSP00000402723:A284V;ENSP00000411424:A284V;ENSP00000400977:A284V;ENSP00000413774:A284V;ENSP00000321999:A284V	ENSP00000321999:A284V	A	+	2	0	PTH1R	46915813	0.245000	0.23899	0.929000	0.37066	0.865000	0.49528	0.871000	0.28023	2.560000	0.86352	0.561000	0.74099	GCT		0.617	PTH1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257481.1	NM_000316	
NBEAL2	23218	broad.mit.edu	37	3	47041439	47041439	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:47041439T>C	ENST00000450053.3	+	27	4029	c.3850T>C	c.(3850-3852)Tgg>Cgg	p.W1284R	NBEAL2_ENST00000292309.5_Intron|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1284					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.W1284R(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		ACAGGCTGGCTGGCAAGATGT	0.632																																					p.W1284R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3850C	3						.						25.0	30.0	29.0					3																	47041439		2180	4281	6461	47016443	SO:0001583	missense	23218	exon27			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.3850T>C	3.37:g.47041439T>C	ENSP00000415034:p.Trp1284Arg		47016443	NM_015175	O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	T	19.28	3.797823	0.70567	.	.	ENSG00000160796	ENST00000450053	T	0.72835	-0.69	5.5	5.5	0.81552	.	.	.	.	.	T	0.80899	0.4712	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.66716	0.946	T	0.82983	-0.0186	9	0.87932	D	0	.	13.5512	0.61734	0.0:0.0:0.0:1.0	.	1284	Q6ZNJ1	NBEL2_HUMAN	R	1284	ENSP00000415034:W1284R	ENSP00000415034:W1284R	W	+	1	0	NBEAL2	47016443	1.000000	0.71417	1.000000	0.80357	0.561000	0.35649	7.831000	0.86748	2.085000	0.62840	0.459000	0.35465	TGG		0.632	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064	
NBEAL2	23218	broad.mit.edu	37	3	47041759	47041759	+	Silent	SNP	G	G	A	rs139822454	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:47041759G>A	ENST00000450053.3	+	27	4349	c.4170G>A	c.(4168-4170)tcG>tcA	p.S1390S	NBEAL2_ENST00000292309.5_Silent_p.S1206S|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1390					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.S1390S(1)|p.S767S(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GCACTCCTTCGCCACTGGATG	0.652													G|||	38	0.00758786	0.0272	0.0029	5008	,	,		16798	0.0		0.0	False		,,,				2504	0.0				p.S1390S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G4170A	3						.	G		61,4121		0,61,2030	26.0	32.0	30.0		4170	2.3	1.0	3	dbSNP_134	30	0,8428		0,0,4214	no	coding-synonymous	NBEAL2	NM_015175.1		0,61,6244	AA,AG,GG		0.0,1.4586,0.4837		1390/2755	47041759	61,12549	2091	4214	6305	47016763	SO:0001819	synonymous_variant	23218	exon27			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.4170G>A	3.37:g.47041759G>A			47016763	NM_015175	O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	CCDS46817.1	10	0.004578754578754579	10	0.02032520325203252	0	0.0	0	0.0	0	0.0	G	6.706	0.498853	0.12762	0.014586	0.0	ENSG00000160796	ENST00000416683	.	.	.	5.48	2.34	0.29019	.	.	.	.	.	T	0.31199	0.0789	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23868	-1.0176	4	.	.	.	.	4.9073	0.13804	0.0:0.4372:0.4007:0.1621	.	.	.	.	H	678	.	.	R	+	2	0	NBEAL2	47016763	0.083000	0.21467	0.997000	0.53966	0.656000	0.38851	-0.584000	0.05800	1.328000	0.45358	-0.234000	0.12200	CGC		0.652	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064	
KLHL18	23276	broad.mit.edu	37	3	47385123	47385123	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:47385123G>A	ENST00000232766.5	+	10	1437	c.1417G>A	c.(1417-1419)Gcc>Acc	p.A473T	KLHL18_ENST00000455924.2_Missense_Mutation_p.A361T	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	473								p.A473T(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		GCACGGAGCCGCCTCCCTGGG	0.622																																					p.A473T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1417A	3						.						56.0	61.0	59.0					3																	47385123		2203	4300	6503	47360127	SO:0001583	missense	23276	exon10			AB018338	CCDS33749.1	3p21	2013-01-30	2013-01-30		ENSG00000114648	ENSG00000114648		"""Kelch-like"", ""BTB/POZ domain containing"""	29120	protein-coding gene	gene with protein product			"""kelch-like 18 (Drosophila)"""			9872452	Standard	NM_025010		Approved	KIAA0795, FLJ13703	uc003crd.3	O94889	OTTHUMG00000156522	ENST00000232766.5:c.1417G>A	3.37:g.47385123G>A	ENSP00000232766:p.Ala473Thr		47360127	NM_025010	A8K612|Q7Z3E8|Q8N125	Missense_Mutation	SNP	ENST00000232766.5	37	CCDS33749.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542180	0.85917	.	.	ENSG00000114648	ENST00000232766;ENST00000455924	T;T	0.80480	-1.38;-1.38	5.06	5.06	0.68205	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.84174	0.5414	M	0.64567	1.98	0.80722	D	1	D	0.55385	0.971	P	0.51415	0.669	D	0.84959	0.0876	10	0.49607	T	0.09	.	17.6032	0.88031	0.0:0.0:1.0:0.0	.	473	O94889	KLH18_HUMAN	T	473;361	ENSP00000232766:A473T;ENSP00000405585:A361T	ENSP00000232766:A473T	A	+	1	0	KLHL18	47360127	1.000000	0.71417	0.964000	0.40570	0.838000	0.47535	9.569000	0.98170	2.636000	0.89361	0.491000	0.48974	GCC		0.622	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344493.1	NM_025010	
DHX30	22907	broad.mit.edu	37	3	47887957	47887957	+	Silent	SNP	G	G	A	rs529583557	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:47887957G>A	ENST00000445061.1	+	11	1802	c.1395G>A	c.(1393-1395)acG>acA	p.T465T	DHX30_ENST00000348968.4_Silent_p.T437T|DHX30_ENST00000446256.2_Silent_p.T426T|DHX30_ENST00000457607.1_Silent_p.T493T	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	465	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.T465T(1)		endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GGAAGACCACGCGCATCCCCC	0.627													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18786	0.0		0.0	False		,,,				2504	0.0				p.T465T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1395A	3						.						73.0	76.0	75.0					3																	47887957		2203	4300	6503	47862961	SO:0001819	synonymous_variant	22907	exon11			AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.1395G>A	3.37:g.47887957G>A			47862961	NM_138615	A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Silent	SNP	ENST00000445061.1	37	CCDS2759.1																																																																																				0.627	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615	
ATRIP	84126	broad.mit.edu	37	3	48506358	48506358	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:48506358C>T	ENST00000320211.3	+	12	2297	c.2184C>T	c.(2182-2184)caC>caT	p.H728H	ATRIP_ENST00000346691.4_Silent_p.H701H|TREX1_ENST00000456089.1_5'Flank|TREX1_ENST00000433541.1_5'Flank|ATRIP_ENST00000357105.6_Silent_p.H601H|ATRIP_ENST00000412052.1_Silent_p.H635H|TREX1_ENST00000436480.2_5'Flank|SHISA5_ENST00000465449.1_5'Flank|TREX1_ENST00000422277.2_5'Flank|TREX1_ENST00000296443.9_5'Flank|TREX1_ENST00000444177.1_5'Flank	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	728					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.H728H(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGCTGCTGCACGGCCTATCGC	0.637								Other conserved DNA damage response genes																													p.H728H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2184T	3						.						96.0	83.0	87.0					3																	48506358		2203	4300	6503	48481362	SO:0001819	synonymous_variant	11277	exon12			AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053			33499	protein-coding gene	gene with protein product		606605				11721054	Standard	NM_130384		Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000320211.3:c.2184C>T	3.37:g.48506358C>T			48481362	NM_130384	A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	De_novo_Start_OutOfFrame	SNP	ENST00000320211.3	37	CCDS2768.1																																																																																				0.637	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257507.2	NM_130384	
QRICH1	54870	broad.mit.edu	37	3	49069628	49069628	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:49069628T>C	ENST00000395443.2	-	9	2598	c.2126A>G	c.(2125-2127)tAc>tGc	p.Y709C	IMPDH2_ENST00000326739.4_5'Flank|QRICH1_ENST00000479449.1_5'Flank|RP13-131K19.6_ENST00000607245.1_RNA|QRICH1_ENST00000424300.1_Missense_Mutation_p.Y709C|QRICH1_ENST00000357496.2_Missense_Mutation_p.Y709C	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	709						nucleus (GO:0005634)		p.Y709C(1)		breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TTTGAAGAGGTAGAAATCATA	0.438																																					p.Y709C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2126G	3						.						216.0	179.0	191.0					3																	49069628		2203	4300	6503	49044632	SO:0001583	missense	54870	exon9				CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.2126A>G	3.37:g.49069628T>C	ENSP00000378830:p.Tyr709Cys		49044632	NM_198880	Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	37	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.494435	0.85069	.	.	ENSG00000198218	ENST00000395443;ENST00000357496;ENST00000424300	.	.	.	5.2	5.2	0.72013	.	0.167378	0.53938	D	0.000043	T	0.79191	0.4404	M	0.84082	2.675	0.80722	D	1	D	0.63880	0.993	D	0.64321	0.924	T	0.83070	-0.0143	9	0.87932	D	0	-2.5458	15.1187	0.72426	0.0:0.0:0.0:1.0	.	709	Q2TAL8	QRIC1_HUMAN	C	709	.	ENSP00000350094:Y709C	Y	-	2	0	QRICH1	49044632	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.598000	0.82745	1.987000	0.57996	0.438000	0.28831	TAC		0.438	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730	
USP19	10869	broad.mit.edu	37	3	49154730	49154732	+	Intron	DEL	AGT	AGT	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	AGT	AGT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:49154730_49154732delAGT	ENST00000398888.2	-	5	925				USP19_ENST00000434032.2_In_Frame_Del_p.L224del|USP19_ENST00000488993.1_5'UTR|USP19_ENST00000398898.2_In_Frame_Del_p.L161del|USP19_ENST00000398896.1_Intron|USP19_ENST00000417901.1_In_Frame_Del_p.L224del|USP19_ENST00000398892.3_In_Frame_Del_p.L161del|USP19_ENST00000453664.1_In_Frame_Del_p.L214del	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19						ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)	p.L209delL(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AATGGGAGACAGTTCCTGCCCAT	0.66																																					p.213_214del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.639_641del	3						.																																			49129736	SO:0001627	intron_variant	10869	exon6			AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.606+137ACT>-	3.37:g.49154730_49154732delAGT			49129734	NM_001199162	A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	In_Frame_Del	DEL	ENST00000398888.2	37	CCDS43090.1																																																																																				0.660	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677	
LAMB2	3913	broad.mit.edu	37	3	49167307	49167309	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	AAG	AAG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:49167307_49167309delAAG	ENST00000418109.1	-	11	1532_1534	c.1368_1370delCTT	c.(1366-1371)ttcttt>ttt	p.456_457FF>F	LAMB2_ENST00000305544.4_In_Frame_Del_p.456_457FF>F	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	456	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.F457delF(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCTGAGCCCAAAGAAGCCATCAC	0.571																																					p.456_457del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.1368_1370del	3						.																																			49142313	SO:0001651	inframe_deletion	3913	exon10				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.1368_1370delCTT	3.37:g.49167310_49167312delAAG	ENSP00000388325:p.Phe457del		49142311	NM_002292	Q16321	In_Frame_Del	DEL	ENST00000418109.1	37	CCDS2789.1																																																																																				0.571	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292	
BSN	8927	broad.mit.edu	37	3	49692973	49692973	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:49692973A>G	ENST00000296452.4	+	5	6098	c.5984A>G	c.(5983-5985)aAc>aGc	p.N1995S		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1995					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)	p.N1995S(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCTGGCCTCAACTACCATGCC	0.617																																					p.N1995S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5984G	3						.						76.0	73.0	74.0					3																	49692973		2203	4300	6503	49667977	SO:0001583	missense	8927	exon5			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.5984A>G	3.37:g.49692973A>G	ENSP00000296452:p.Asn1995Ser		49667977	NM_003458	O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	A	10.84	1.464000	0.26335	.	.	ENSG00000164061	ENST00000296452	T	0.17691	2.26	5.1	1.29	0.21616	.	0.534751	0.21200	N	0.078486	T	0.11196	0.0273	L	0.41236	1.265	0.24765	N	0.99291	B	0.02656	0.0	B	0.06405	0.002	T	0.39165	-0.9627	10	0.07644	T	0.81	-10.8723	9.7186	0.40289	0.718:0.0:0.282:0.0	.	1995	Q9UPA5	BSN_HUMAN	S	1995	ENSP00000296452:N1995S	ENSP00000296452:N1995S	N	+	2	0	BSN	49667977	0.933000	0.31639	0.999000	0.59377	0.995000	0.86356	0.324000	0.19610	0.284000	0.22305	0.459000	0.35465	AAC		0.617	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458	
TRAIP	10293	broad.mit.edu	37	3	49867122	49867122	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:49867122delA	ENST00000331456.2	-	13	1277	c.1164delT	c.(1162-1164)tttfs	p.F388fs	TRAIP_ENST00000469027.1_Frame_Shift_Del_p.F233fs	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	388	Interaction with CYLD.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|receptor signaling protein activity (GO:0005057)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.F388fs*7(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CATTCCGGACAAAAATAGGGA	0.587																																					p.F388fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1164delT	3						.						62.0	63.0	63.0					3																	49867122		2203	4300	6503	49842126	SO:0001589	frameshift_variant	10293	exon13			BC019283	CCDS2806.1	3p21.31	2013-01-09			ENSG00000183763	ENSG00000183763		"""RING-type (C3HC4) zinc fingers"""	30764	protein-coding gene	gene with protein product	"""ring finger protein 206"""	605958				9104814	Standard	NM_005879		Approved	TRIP, RNF206	uc003cxs.1	Q9BWF2	OTTHUMG00000158269	ENST00000331456.2:c.1164delT	3.37:g.49867122delA	ENSP00000328203:p.Phe388fs		49842126	NM_005879	B5BU84|B5BUL3|O00467	Frame_Shift_Del	DEL	ENST00000331456.2	37	CCDS2806.1																																																																																				0.587	TRAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350518.1	NM_005879	
GNAT1	2779	broad.mit.edu	37	3	50230772	50230772	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:50230772A>G	ENST00000433068.1	+	3	280	c.224A>G	c.(223-225)cAg>cGg	p.Q75R	GNAT1_ENST00000232461.3_Missense_Mutation_p.Q75R	NM_000172.3	NP_000163.2	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	75					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular response to electrical stimulus (GO:0071257)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|phototransduction, visible light (GO:0007603)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to light intensity (GO:0009642)|response to light stimulus (GO:0009416)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	acyl binding (GO:0000035)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.Q75R(2)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		AACACGTTGCAGTCCATCCTG	0.602																																					p.Q75R												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.A224G	3						.						105.0	90.0	95.0					3																	50230772		2203	4300	6503	50205776	SO:0001583	missense	2779	exon3				CCDS2812.1	3p21	2014-01-28			ENSG00000114349	ENSG00000114349			4393	protein-coding gene	gene with protein product		139330					Standard	NM_000172		Approved	CSNBAD3	uc003cyl.2	P11488	OTTHUMG00000156808	ENST00000433068.1:c.224A>G	3.37:g.50230772A>G	ENSP00000387555:p.Gln75Arg		50205776	NM_000172	Q4VBN2	Missense_Mutation	SNP	ENST00000433068.1	37	CCDS2812.1	.	.	.	.	.	.	.	.	.	.	A	31	5.099756	0.94197	.	.	ENSG00000114349	ENST00000232461;ENST00000433068;ENST00000440836	D;D;D	0.86769	-2.17;-2.17;-2.17	5.33	5.33	0.75918	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.89887	0.6845	L	0.58583	1.82	0.80722	D	1	P	0.48162	0.906	P	0.54270	0.747	D	0.90975	0.4823	10	0.87932	D	0	.	14.2852	0.66243	1.0:0.0:0.0:0.0	.	75	P11488	GNAT1_HUMAN	R	75;75;27	ENSP00000232461:Q75R;ENSP00000387555:Q75R;ENSP00000403537:Q27R	ENSP00000232461:Q75R	Q	+	2	0	GNAT1	50205776	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.151000	0.94674	2.026000	0.59711	0.459000	0.35465	CAG		0.602	GNAT1-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345957.1	NM_000172	
DOCK3	1795	broad.mit.edu	37	3	51417604	51417604	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:51417604delC	ENST00000266037.9	+	52	5572	c.5549delC	c.(5548-5550)accfs	p.T1850fs		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1850					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.P1852fs*45(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CTGGGTGATACCCCCCCAGCC	0.597																																					p.Y1836fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.5508delC	3						.						83.0	84.0	84.0					3																	51417604		1912	4118	6030	51392644	SO:0001589	frameshift_variant	1795	exon52			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.5549delC	3.37:g.51417604delC	ENSP00000266037:p.Thr1850fs		51392644	NM_004947	O15017	Frame_Shift_Del	DEL	ENST00000266037.9	37	CCDS46835.1																																																																																				0.597	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947	
RAD54L2	23132	broad.mit.edu	37	3	51680384	51680384	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:51680384C>A	ENST00000409535.2	+	18	3038	c.2913C>A	c.(2911-2913)agC>agA	p.S971R	RAD54L2_ENST00000296477.3_Missense_Mutation_p.S665R	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	971						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)	p.S971R(1)		NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CAAAGAAAAGCTATGAGGAAG	0.522																																					p.S971R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2913A	3						.						151.0	123.0	133.0					3																	51680384		2203	4300	6503	51655424	SO:0001583	missense	23132	exon18			AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.2913C>A	3.37:g.51680384C>A	ENSP00000386520:p.Ser971Arg		51655424	NM_015106	Q8TB57|Q9BV54	Missense_Mutation	SNP	ENST00000409535.2	37	CCDS33765.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.97|11.97	1.798974|1.798974	0.31777|0.31777	.|.	.|.	ENSG00000164080|ENSG00000164080	ENST00000432863|ENST00000409535;ENST00000296477	.|D;D	.|0.93811	.|-3.19;-3.29	5.6|5.6	3.82|3.82	0.43975|0.43975	.|.	.|0.079942	.|0.85682	.|D	.|0.000000	D|D	0.87346|0.87346	0.6154|0.6154	L|L	0.38953|0.38953	1.18|1.18	0.40476|0.40476	D|D	0.980397|0.980397	.|B;B	.|0.31485	.|0.325;0.325	.|B;B	.|0.27796	.|0.083;0.083	T|T	0.82418|0.82418	-0.0467|-0.0467	5|10	.|0.33940	.|T	.|0.23	-17.3029|-17.3029	8.8503|8.8503	0.35194|0.35194	0.0:0.7725:0.0:0.2275|0.0:0.7725:0.0:0.2275	.|.	.|971;560	.|Q9Y4B4;B3KV54	.|ARIP4_HUMAN;.	I|R	800|971;665	.|ENSP00000386520:S971R;ENSP00000296477:S665R	.|ENSP00000296477:S665R	L|S	+|+	1|3	2|2	RAD54L2|RAD54L2	51655424|51655424	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	1.040000|1.040000	0.30278|0.30278	0.738000|0.738000	0.32606|0.32606	0.462000|0.462000	0.41574|0.41574	CTA|AGC		0.522	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2	NM_015106	
ACY1	95	broad.mit.edu	37	3	52020296	52020296	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:52020296A>G	ENST00000404366.2	+	6	531	c.385A>G	c.(385-387)Aag>Gag	p.K129E	ACY1_ENST00000468068.1_3'UTR|ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.K230E|ACY1_ENST00000476854.1_Missense_Mutation_p.K129E|ABHD14B_ENST00000483233.1_5'Flank|ACY1_ENST00000476351.1_Missense_Mutation_p.K94E|ACY1_ENST00000458031.2_Missense_Mutation_p.K219E|ACY1_ENST00000494103.1_Intron	NM_000666.2|NM_001198895.1	NP_000657.1|NP_001185824.1	Q03154	ACY1_HUMAN	aminoacylase 1	129					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.K129E(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acetylcysteine(DB06151)|L-Aspartic Acid(DB00128)	GAGGAGGCTGAAGGTGGAGGG	0.647																																					p.K129E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A385G	3						.						42.0	44.0	43.0					3																	52020296		2203	4300	6503	51995336	SO:0001583	missense	95	exon6			L07548	CCDS2844.1, CCDS56261.1, CCDS56262.1, CCDS56263.1	3p21.2	2006-02-02			ENSG00000243989	ENSG00000243989	3.5.1.14		177	protein-coding gene	gene with protein product		104620				1707030, 6948533	Standard	NM_000666		Approved		uc003dcq.3	Q03154	OTTHUMG00000157815	ENST00000404366.2:c.385A>G	3.37:g.52020296A>G	ENSP00000384296:p.Lys129Glu		51995336	NM_001198897	C9J6I6|C9J9D8|C9JWD4	Missense_Mutation	SNP	ENST00000404366.2	37	CCDS2844.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.315668	0.81469	.	.	ENSG00000114786;ENSG00000114786;ENSG00000114786;ENSG00000243989;ENSG00000243989;ENSG00000243989;ENSG00000243989	ENST00000458031;ENST00000463937;ENST00000232907;ENST00000476854;ENST00000476351;ENST00000404366;ENST00000469863	T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59	5.24	5.24	0.73138	ArgE/DapE/ACY1/CPG2/YscS, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.68430	0.3000	M	0.83384	2.64	0.49389	D	0.999787	P;D;D	0.55605	0.939;0.972;0.97	P;P;P	0.58873	0.798;0.847;0.847	T	0.73206	-0.4056	10	0.72032	D	0.01	-17.0742	9.383	0.38325	0.9152:0.0:0.0848:0.0	.	129;219;129	B4DPC3;B4DNW0;Q03154	.;.;ACY1_HUMAN	E	219;230;129;129;94;129;138	ENSP00000390557:K219E;ENSP00000420487:K230E;ENSP00000419262:K129E;ENSP00000417056:K94E;ENSP00000384296:K129E;ENSP00000419830:K138E	ENSP00000384296:K129E	K	+	1	0	ACY1;RP11-155D18.11	51995336	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	2.145000	0.42207	1.990000	0.58119	0.456000	0.33151	AAG		0.647	ACY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349657.1	NM_000666	
DNAH1	25981	broad.mit.edu	37	3	52402864	52402864	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:52402864A>G	ENST00000420323.2	+	37	6134	c.5873A>G	c.(5872-5874)aAc>aGc	p.N1958S		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1958	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.N1958S(1)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGGATTGAGAACATGAACACG	0.562																																					p.N1958S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5873G	3						.						131.0	136.0	135.0					3																	52402864		2122	4248	6370	52377904	SO:0001583	missense	25981	exon37			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.5873A>G	3.37:g.52402864A>G	ENSP00000401514:p.Asn1958Ser		52377904	NM_015512	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	A	16.77	3.215476	0.58452	.	.	ENSG00000114841	ENST00000420323	D	0.90676	-2.71	4.93	4.93	0.64822	.	0.000000	0.48286	D	0.000193	D	0.90342	0.6978	L	0.43646	1.37	0.50632	D	0.999883	P	0.45715	0.865	P	0.53809	0.735	D	0.87412	0.2376	10	0.14656	T	0.56	.	14.7429	0.69469	1.0:0.0:0.0:0.0	.	1958	C9JXH6	.	S	1958	ENSP00000401514:N1958S	ENSP00000401514:N1958S	N	+	2	0	DNAH1	52377904	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.824000	0.62701	2.075000	0.62263	0.460000	0.39030	AAC		0.562	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	
PBRM1	55193	broad.mit.edu	37	3	52610606	52610606	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:52610606T>C	ENST00000296302.7	-	22	3643	c.3642A>G	c.(3640-3642)gaA>gaG	p.E1214E	PBRM1_ENST00000409114.3_Silent_p.E1229E|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000394830.3_Silent_p.E1189E|PBRM1_ENST00000409057.1_Silent_p.E1214E|PBRM1_ENST00000356770.4_Silent_p.E1182E|PBRM1_ENST00000409767.1_Silent_p.E1229E|PBRM1_ENST00000410007.1_Silent_p.E1189E|PBRM1_ENST00000337303.4_Silent_p.E1214E			Q86U86	PB1_HUMAN	polybromo 1	1214	BAH 2. {ECO:0000255|PROSITE- ProRule:PRU00370}.		Missing (found in a case of clear cell renal carcinoma; somatic mutation). {ECO:0000269|PubMed:21248752}.		chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E1182E(1)|p.E1214E(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCAGAAATACTTCTTTTTTGT	0.373			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																p.E1189E			Rec	yes		3	3p21	55193	polybromo 1		E	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A3567G	3						.						139.0	134.0	136.0					3																	52610606		2203	4300	6503	52585646	SO:0001819	synonymous_variant	55193	exon23			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3642A>G	3.37:g.52610606T>C			52585646	NM_018313	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Silent	SNP	ENST00000296302.7	37																																																																																					0.373	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	
WNT5A	7474	broad.mit.edu	37	3	55504336	55504336	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:55504336G>A	ENST00000474267.1	-	6	1448	c.927C>T	c.(925-927)tgC>tgT	p.C309C	WNT5A_ENST00000497027.1_Silent_p.C294C|WNT5A_ENST00000493406.1_5'Flank|WNT5A_ENST00000264634.4_Silent_p.C309C			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	309					activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|ameboidal cell migration (GO:0001667)|anterior/posterior axis specification, embryo (GO:0008595)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular protein localization (GO:0034613)|cellular response to calcium ion (GO:0071277)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cervix development (GO:0060067)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|dopaminergic neuron differentiation (GO:0071542)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system development (GO:0048706)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity (GO:0001736)|face development (GO:0060324)|genitalia development (GO:0048806)|heart looping (GO:0001947)|hematopoietic stem cell proliferation (GO:0071425)|hindgut morphogenesis (GO:0007442)|hypophysis morphogenesis (GO:0048850)|keratinocyte differentiation (GO:0030216)|lateral sprouting involved in mammary gland duct morphogenesis (GO:0060599)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|male gonad development (GO:0008584)|mammary gland branching involved in thelarche (GO:0060744)|mesenchymal-epithelial cell signaling (GO:0060638)|midgut development (GO:0007494)|negative chemotaxis (GO:0050919)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of synapse assembly (GO:0051964)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|olfactory bulb interneuron development (GO:0021891)|optic cup formation involved in camera-type eye development (GO:0003408)|palate development (GO:0060021)|planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:0061350)|planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:0061349)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar cell polarity pathway involved in outflow tract morphogenesis (GO:0061347)|planar cell polarity pathway involved in pericardium morphogenesis (GO:0061354)|planar cell polarity pathway involved in ventricular septum morphogenesis (GO:0061348)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of meiosis (GO:0045836)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ossification (GO:0045778)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of T cell chemotaxis (GO:0010820)|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)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|protein phosphorylation (GO:0006468)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|response to organic substance (GO:0010033)|somitogenesis (GO:0001756)|type B pancreatic cell development (GO:0003323)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|wound healing (GO:0042060)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor tyrosine kinase-like orphan receptor binding (GO:0005115)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.C402C(1)|p.C402W(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		CATTGCGCACGCAGTAGTCAG	0.642																																					p.C309C												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|endometrium(1)	c.C927T	3						.						56.0	64.0	61.0					3																	55504336		2202	4299	6501	55479376	SO:0001819	synonymous_variant	7474	exon5			L20861	CCDS46850.1, CCDS58835.1	3p21-p14	2013-02-28			ENSG00000114251	ENSG00000114251		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12784	protein-coding gene	gene with protein product	"""WNT-5A protein"""	164975				8288227	Standard	NM_001256105		Approved	hWNT5A	uc010hmw.4	P41221	OTTHUMG00000158361	ENST00000474267.1:c.927C>T	3.37:g.55504336G>A			55479376	NM_003392	A8K4A4|Q6P278	Silent	SNP	ENST00000474267.1	37	CCDS46850.1																																																																																				0.642	WNT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350793.3	NM_003392	
APPL1	26060	broad.mit.edu	37	3	57282225	57282225	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:57282225C>T	ENST00000288266.3	+	10	856	c.709C>T	c.(709-711)Cgc>Tgc	p.R237C		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	237	Required for RAB5A binding.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)	p.R237C(2)		breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		TGTCAGTGTTCGCAGGGAAAT	0.413																																					p.R237C												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C709T	3						.						108.0	100.0	103.0					3																	57282225		2203	4300	6503	57257265	SO:0001583	missense	26060	exon10			AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"""Pleckstrin homology (PH) domain containing"""	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.709C>T	3.37:g.57282225C>T	ENSP00000288266:p.Arg237Cys		57257265	NM_012096	Q9P2B9	Missense_Mutation	SNP	ENST00000288266.3	37	CCDS2882.1	.	.	.	.	.	.	.	.	.	.	C	34	5.348192	0.95807	.	.	ENSG00000157500	ENST00000288266	T	0.05199	3.48	6.06	6.06	0.98353	.	0.049437	0.85682	D	0.000000	T	0.17619	0.0423	M	0.64997	1.995	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.51101	0.659;0.545	T	0.00012	-1.2424	10	0.72032	D	0.01	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	220;237	B4DQX8;Q9UKG1	.;DP13A_HUMAN	C	237	ENSP00000288266:R237C	ENSP00000288266:R237C	R	+	1	0	APPL1	57257265	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.369000	0.79578	2.880000	0.98712	0.650000	0.86243	CGC		0.413	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	NM_012096	
DENND6A	201627	broad.mit.edu	37	3	57619023	57619023	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:57619023delA	ENST00000311128.5	-	15	1392	c.1322delT	c.(1321-1323)ttgfs	p.L441fs	RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	441					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.L441fs*3(1)									TGTCAGTTCCAAAAAATAGCG	0.328																																					p.L441fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1322delT	3						.						78.0	81.0	80.0					3																	57619023		2203	4298	6501	57594063	SO:0001589	frameshift_variant	201627	exon15			AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"""DENN/MADD domain containing"""	26635	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member A"""	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.1322delT	3.37:g.57619023delA	ENSP00000311401:p.Leu441fs		57594063	NM_152678	Q7Z5T4|Q8N235|Q8TEG8	Frame_Shift_Del	DEL	ENST00000311128.5	37	CCDS33773.1																																																																																				0.328	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351594.1	NM_152678	
ACOX2	8309	broad.mit.edu	37	3	58520690	58520690	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:58520690T>C	ENST00000302819.5	-	2	435	c.144A>G	c.(142-144)gcA>gcG	p.A48A	ACOX2_ENST00000459701.2_Silent_p.A48A	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	48					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)	p.A48A(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		TCCTGCGGAGTGCAGTGTTCT	0.512																																					p.A48A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A144G	3						.						209.0	190.0	197.0					3																	58520690		2203	4300	6503	58495730	SO:0001819	synonymous_variant	8309	exon2			X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"""trihydroxycoprostanoyl-CoA oxidase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"""	601641	"""acyl-Coenzyme A oxidase 2, branched chain"""			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.144A>G	3.37:g.58520690T>C			58495730	NM_003500	A6NF16|B2R8U5	Silent	SNP	ENST00000302819.5	37	CCDS33775.1																																																																																				0.512	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353541.1		
FEZF2	55079	broad.mit.edu	37	3	62355881	62355881	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:62355881G>A	ENST00000283268.3	-	5	1551	c.1257C>T	c.(1255-1257)tgC>tgT	p.C419C	FEZF2_ENST00000486811.1_Silent_p.C419C|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|FEZF2_ENST00000475839.1_Silent_p.C419C	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	419					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cerebral cortex GABAergic interneuron migration (GO:0021853)|dendrite development (GO:0016358)|dentate gyrus development (GO:0021542)|forebrain anterior/posterior pattern specification (GO:0021797)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.C419C(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		CGCAAGTGGCGCACGTGAAAG	0.522																																					p.C419C	NSCLC(170;1772 2053 12525 15604 23984)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1257T	3						.						256.0	233.0	240.0					3																	62355881		2203	4300	6503	62330921	SO:0001819	synonymous_variant	55079	exon5			AF064845	CCDS2897.1	3p21.1	2013-01-08	2006-08-15	2006-08-15	ENSG00000153266	ENSG00000153266		"""Zinc fingers, C2H2-type"""	13506	protein-coding gene	gene with protein product		607414	"""zinc finger protein 312"""	ZNF312			Standard	NM_018008		Approved	FLJ10142, FKSG36, TOF, FEZL, Zfp312	uc003dli.2	Q8TBJ5	OTTHUMG00000158705	ENST00000283268.3:c.1257C>T	3.37:g.62355881G>A			62330921	NM_018008	A8K349|Q9BZ91|Q9NWB9	Silent	SNP	ENST00000283268.3	37	CCDS2897.1																																																																																				0.522	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351813.1	NM_018008	
FEZF2	55079	broad.mit.edu	37	3	62356971	62356971	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:62356971C>T	ENST00000283268.3	-	4	1335	c.1041G>A	c.(1039-1041)acG>acA	p.T347T	FEZF2_ENST00000486811.1_Silent_p.T347T|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|FEZF2_ENST00000475839.1_Silent_p.T347T	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	347					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cerebral cortex GABAergic interneuron migration (GO:0021853)|dendrite development (GO:0016358)|dentate gyrus development (GO:0021542)|forebrain anterior/posterior pattern specification (GO:0021797)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.T347T(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		GCGTGTTGAGCGTGGAGCTGC	0.567																																					p.T347T	NSCLC(170;1772 2053 12525 15604 23984)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1041A	3						.						150.0	131.0	138.0					3																	62356971		2203	4300	6503	62332011	SO:0001819	synonymous_variant	55079	exon4			AF064845	CCDS2897.1	3p21.1	2013-01-08	2006-08-15	2006-08-15	ENSG00000153266	ENSG00000153266		"""Zinc fingers, C2H2-type"""	13506	protein-coding gene	gene with protein product		607414	"""zinc finger protein 312"""	ZNF312			Standard	NM_018008		Approved	FLJ10142, FKSG36, TOF, FEZL, Zfp312	uc003dli.2	Q8TBJ5	OTTHUMG00000158705	ENST00000283268.3:c.1041G>A	3.37:g.62356971C>T			62332011	NM_018008	A8K349|Q9BZ91|Q9NWB9	Silent	SNP	ENST00000283268.3	37	CCDS2897.1																																																																																				0.567	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351813.1	NM_018008	
CADPS	8618	broad.mit.edu	37	3	62636639	62636639	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:62636639G>A	ENST00000383710.4	-	5	1435	c.1086C>T	c.(1084-1086)ggC>ggT	p.G362G	CADPS_ENST00000283269.9_Silent_p.G362G|CADPS_ENST00000490353.2_Silent_p.G362G|CADPS_ENST00000357948.3_Silent_p.G362G	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	362					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.G362G(2)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TGAACTCCCCGCCTTTGGATA	0.498																																					p.G362G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1086T	3						.						136.0	125.0	128.0					3																	62636639		2203	4300	6503	62611679	SO:0001819	synonymous_variant	8618	exon5			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.1086C>T	3.37:g.62636639G>A			62611679	NM_183393	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Silent	SNP	ENST00000383710.4	37	CCDS46858.1																																																																																				0.498	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394	
ATXN7	6314	broad.mit.edu	37	3	63898877	63898877	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:63898877G>A	ENST00000295900.6	+	4	920	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	ATXN7_ENST00000398590.3_Missense_Mutation_p.E124K|ATXN7_ENST00000538065.1_Missense_Mutation_p.E124K|ATXN7_ENST00000487717.1_Missense_Mutation_p.E124K	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	124					cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.E124K(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		GAAAAACCGCGAAGTCATGGG	0.537																																					p.E124K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G370A	3						.						85.0	91.0	89.0					3																	63898877		1962	4150	6112	63873917	SO:0001583	missense	6314	exon3			AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"""Ataxins"""	10560	protein-coding gene	gene with protein product		607640	"""spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"""	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.370G>A	3.37:g.63898877G>A	ENSP00000295900:p.Glu124Lys		63873917	NM_001177387	B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Missense_Mutation	SNP	ENST00000295900.6	37	CCDS43102.1	.	.	.	.	.	.	.	.	.	.	G	34	5.390877	0.95988	.	.	ENSG00000163635	ENST00000398590;ENST00000295900;ENST00000487717;ENST00000538065;ENST00000539129	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.58722	0.2142	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.97	T	0.63834	-0.6547	10	0.72032	D	0.01	-10.0835	17.4101	0.87482	0.0:0.0:1.0:0.0	.	124;124	O15265-2;O15265	.;ATX7_HUMAN	K	124;124;124;124;123	ENSP00000381590:E124K;ENSP00000295900:E124K;ENSP00000420234:E124K;ENSP00000439585:E124K	ENSP00000295900:E124K	E	+	1	0	ATXN7	63873917	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.664000	0.91139	2.075000	0.62263	0.655000	0.94253	GAA		0.537	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333	
ROBO2	6092	broad.mit.edu	37	3	77542502	77542502	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:77542502delA	ENST00000461745.1	+	5	1675	c.775delA	c.(775-777)aaafs	p.K260fs	ROBO2_ENST00000487694.3_Frame_Shift_Del_p.K276fs|ROBO2_ENST00000332191.8_Frame_Shift_Del_p.K260fs	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	260	Ig-like C2-type 3.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.K276fs*19(1)|p.K260fs*19(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TGTGAGGTGGAAAAAGGATGA	0.413																																					p.E239fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.716delA	3						.						110.0	104.0	106.0					3																	77542502		1912	4151	6063	77625192	SO:0001589	frameshift_variant	6092	exon4			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.775delA	3.37:g.77542502delA	ENSP00000417164:p.Lys260fs		77625192	NM_001128929	O43608|Q19AB4|Q19AB5	Frame_Shift_Del	DEL	ENST00000461745.1	37	CCDS43109.1																																																																																				0.413	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246	
ROBO1	6091	broad.mit.edu	37	3	78676638	78676638	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:78676638T>C	ENST00000464233.1	-	26	3821	c.3708A>G	c.(3706-3708)gaA>gaG	p.E1236E	ROBO1_ENST00000495273.1_Silent_p.E1191E|ROBO1_ENST00000436010.2_Silent_p.E1197E|ROBO1_ENST00000467549.1_Silent_p.E1136E	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1236					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)	p.E1236E(1)|p.E1213E(1)|p.E1191E(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGGGGCCTCGTTCATCTTCCT	0.512																																					p.E1236E												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.A3708G	3						.						77.0	93.0	87.0					3																	78676638		2075	4210	6285	78759328	SO:0001819	synonymous_variant	6091	exon26			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.3708A>G	3.37:g.78676638T>C			78759328	NM_002941	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Silent	SNP	ENST00000464233.1	37	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	T	9.052	0.992250	0.18966	.	.	ENSG00000169855	ENST00000472273	.	.	.	5.29	1.57	0.23409	.	.	.	.	.	T	0.57651	0.2068	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49476	-0.8936	4	.	.	.	.	9.2082	0.37302	0.0:0.308:0.0:0.692	.	.	.	.	S	163	.	.	N	-	2	0	ROBO1	78759328	0.996000	0.38824	0.997000	0.53966	0.924000	0.55760	0.833000	0.27504	0.091000	0.17302	0.459000	0.35465	AAC		0.512	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941	
ROBO1	6091	broad.mit.edu	37	3	78706407	78706407	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:78706407C>T	ENST00000464233.1	-	18	2568	c.2455G>A	c.(2455-2457)Ggc>Agc	p.G819S	ROBO1_ENST00000495273.1_Missense_Mutation_p.G783S|ROBO1_ENST00000436010.2_Missense_Mutation_p.G780S|ROBO1_ENST00000467549.1_Missense_Mutation_p.G783S	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	819	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)	p.G819S(1)|p.G796S(1)|p.G783S(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GTTTCATTGCCCAGACACCAA	0.428																																					p.G819S												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G2455A	3						.						64.0	63.0	63.0					3																	78706407		1940	4159	6099	78789097	SO:0001583	missense	6091	exon18			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.2455G>A	3.37:g.78706407C>T	ENSP00000420321:p.Gly819Ser		78789097	NM_002941	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	34	5.334448	0.95758	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	6.04	6.04	0.98038	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.70474	0.3228	L	0.53249	1.67	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.971;1.0;0.996;0.995	T	0.64997	-0.6275	9	.	.	.	.	20.6396	0.99537	0.0:1.0:0.0:0.0	.	783;819;783;783;780	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	S	780;783;819;783;783;823	ENSP00000406043:G780S;ENSP00000420321:G819S;ENSP00000420637:G783S;ENSP00000417992:G783S	.	G	-	1	0	ROBO1	78789097	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.818000	0.86416	2.881000	0.98747	0.650000	0.86243	GGC		0.428	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941	
HTR1F	3355	broad.mit.edu	37	3	88039960	88039960	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:88039960C>T	ENST00000319595.4	+	1	115	c.61C>T	c.(61-63)Cca>Tca	p.P21S		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	21					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.P21S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	AAACAGAATGCCATCCAAAAT	0.388																																					p.P21S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C61T	3						.						127.0	126.0	126.0					3																	88039960		2203	4300	6503	88122650	SO:0001583	missense	3355	exon2			L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5292	protein-coding gene	gene with protein product		182134	"""5-hydroxytryptamine (serotonin) receptor 1F"""			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.61C>T	3.37:g.88039960C>T	ENSP00000322924:p.Pro21Ser		88122650	NM_000866		Missense_Mutation	SNP	ENST00000319595.4	37	CCDS2920.1	.	.	.	.	.	.	.	.	.	.	C	7.464	0.645375	0.14451	.	.	ENSG00000179097	ENST00000319595	T	0.36699	1.24	5.74	4.81	0.61882	.	0.207171	0.41823	D	0.000814	T	0.17023	0.0409	N	0.08118	0	0.31127	N	0.708155	B	0.24258	0.1	B	0.21708	0.036	T	0.11641	-1.0579	10	0.09843	T	0.71	.	11.1044	0.48194	0.2938:0.7061:0.0:0.0	.	21	P30939	5HT1F_HUMAN	S	21	ENSP00000322924:P21S	ENSP00000322924:P21S	P	+	1	0	HTR1F	88122650	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	4.121000	0.57904	2.714000	0.92807	0.585000	0.79938	CCA		0.388	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352890.1	NM_000866	
EPHA3	2042	broad.mit.edu	37	3	89390124	89390124	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:89390124G>A	ENST00000336596.2	+	4	1098	c.873G>A	c.(871-873)ccG>ccA	p.P291P	EPHA3_ENST00000494014.1_Silent_p.P291P|EPHA3_ENST00000452448.2_Silent_p.P291P	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	291	Cys-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.P291P(4)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CTAAGTGCCCGCCTCACAGTT	0.438										TSP Lung(6;0.00050)																											p.P291P												.	.	4	Substitution - coding silent(4)	large_intestine(2)|lung(2)	c.G873A	3						.						164.0	158.0	160.0					3																	89390124		2203	4300	6503	89472814	SO:0001819	synonymous_variant	2042	exon4			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.873G>A	3.37:g.89390124G>A			89472814	NM_005233	Q9H2V3|Q9H2V4	Silent	SNP	ENST00000336596.2	37	CCDS2922.1																																																																																				0.438	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233	
ST3GAL6	10402	broad.mit.edu	37	3	98507243	98507243	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:98507243C>A	ENST00000483910.1	+	8	981	c.692C>A	c.(691-693)cCt>cAt	p.P231H	ST3GAL6_ENST00000265261.6_Missense_Mutation_p.P113H|ST3GAL6_ENST00000394162.1_Missense_Mutation_p.P231H|ST3GAL6_ENST00000462152.1_3'UTR	NM_001271146.1	NP_001258075.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	231					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|cellular response to interleukin-6 (GO:0071354)|glycolipid metabolic process (GO:0006664)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,3-sialyltransferase activity (GO:0052798)	p.P231H(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						ATATTAGATCCTTTCATTATC	0.318																																					p.P231H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C692A	3						.						91.0	97.0	95.0					3																	98507243		2203	4300	6503	99989933	SO:0001583	missense	10402	exon9			AF119391	CCDS2933.1, CCDS59452.1, CCDS74968.1	3q12.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000064225	ENSG00000064225		"""Sialyltransferases"""	18080	protein-coding gene	gene with protein product		607156	"""sialyltransferase 10 (alpha-2,3-sialyltransferase VI)"""	SIAT10		10206952	Standard	NM_006100		Approved	ST3GALVI	uc010hpd.4	Q9Y274	OTTHUMG00000159047	ENST00000483910.1:c.692C>A	3.37:g.98507243C>A	ENSP00000417376:p.Pro231His		99989933	NM_006100	B2RCH2|B3KMI1|D3DN39|F8W6U0	Missense_Mutation	SNP	ENST00000483910.1	37	CCDS2933.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.819748	0.71028	.	.	ENSG00000064225	ENST00000483910;ENST00000265261;ENST00000486334;ENST00000394162;ENST00000485391;ENST00000492254;ENST00000485145	T;T;T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;0.21;0.21;0.21	4.84	4.84	0.62591	.	0.000000	0.64402	D	0.000003	T	0.81809	0.4901	M	0.93197	3.39	0.52501	D	0.999955	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.86453	0.1774	10	0.87932	D	0	-4.2964	15.8184	0.78621	0.0:1.0:0.0:0.0	.	254;113;231	C9J480;F8W6U0;Q9Y274	.;.;SIA10_HUMAN	H	231;113;231;231;199;254;145	ENSP00000417376:P231H;ENSP00000265261:P113H;ENSP00000418896:P231H;ENSP00000377717:P231H;ENSP00000418650:P199H;ENSP00000417201:P254H;ENSP00000419202:P145H	ENSP00000265261:P113H	P	+	2	0	ST3GAL6	99989933	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	3.296000	0.51802	2.671000	0.90904	0.563000	0.77884	CCT		0.318	ST3GAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353013.2	NM_006100	
RNF168	165918	broad.mit.edu	37	3	196215520	196215520	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr3:196215520T>G	ENST00000318037.3	-	2	930	c.336A>C	c.(334-336)aaA>aaC	p.K112N		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	112					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K112N(1)		NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		GTTCCCCAGGTTTACTGAGCA	0.343																																					p.K112N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A336C	3						.						79.0	81.0	80.0					3																	196215520		2203	4300	6503	197699917	SO:0001583	missense	165918	exon2			AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.336A>C	3.37:g.196215520T>G	ENSP00000320898:p.Lys112Asn		197699917	NM_152617	Q8NA67|Q96NS4	Missense_Mutation	SNP	ENST00000318037.3	37	CCDS3317.1	.	.	.	.	.	.	.	.	.	.	T	17.48	3.400303	0.62177	.	.	ENSG00000163961	ENST00000318037	T	0.08807	3.05	5.75	-5.86	0.02304	.	0.768748	0.11578	N	0.550030	T	0.11623	0.0283	M	0.73598	2.24	0.23649	N	0.997205	B	0.21821	0.061	B	0.16289	0.015	T	0.14896	-1.0456	10	0.44086	T	0.13	-1.2736	17.319	0.87231	0.0:0.5738:0.0:0.4262	.	112	Q8IYW5	RN168_HUMAN	N	112	ENSP00000320898:K112N	ENSP00000320898:K112N	K	-	3	2	RNF168	197699917	0.944000	0.32072	0.027000	0.17364	0.840000	0.47671	-0.267000	0.08619	-1.004000	0.03421	-0.361000	0.07541	AAA		0.343	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617	
METAP1	23173	broad.mit.edu	37	4	99969944	99969944	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:99969944A>T	ENST00000296411.6	+	9	982	c.848A>T	c.(847-849)aAt>aTt	p.N283I	METAP1_ENST00000544031.1_Missense_Mutation_p.N233I	NM_015143.2	NP_055958.2	P53582	MAP11_HUMAN	methionyl aminopeptidase 1	283					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|phototransduction, visible light (GO:0007603)|platelet aggregation (GO:0070527)|protein initiator methionine removal (GO:0070084)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of translation (GO:0006417)|rhodopsin mediated signaling pathway (GO:0016056)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic ribosome (GO:0022626)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)	p.N283I(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		GCCCAAGCAAATGGGTTTTCA	0.403																																					p.N283I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A848T	4						.						187.0	178.0	181.0					4																	99969944		1877	4103	5980	100188967	SO:0001583	missense	23173	exon9			D42084	CCDS47110.1	4q23	2010-08-20			ENSG00000164024	ENSG00000164024	3.4.11.18		15789	protein-coding gene	gene with protein product	"""Peptidase M"""	610151				7788527, 12144506	Standard	NM_015143		Approved	KIAA0094, MetAP1A, MAP1A	uc003huf.4	P53582	OTTHUMG00000161231	ENST00000296411.6:c.848A>T	4.37:g.99969944A>T	ENSP00000296411:p.Asn283Ile		100188967	NM_015143	B4E2E6	Missense_Mutation	SNP	ENST00000296411.6	37	CCDS47110.1	.	.	.	.	.	.	.	.	.	.	A	14.60	2.584039	0.46110	.	.	ENSG00000164024	ENST00000296411;ENST00000544031;ENST00000510133	T;T;T	0.76968	-1.06;-1.06;-1.06	4.4	0.608	0.17569	Peptidase M24, structural domain (3);	0.141392	0.64402	D	0.000007	D	0.85699	0.5757	H	0.95079	3.62	0.58432	D	0.999999	B	0.31040	0.305	P	0.44477	0.451	T	0.81754	-0.0788	9	.	.	.	-18.2005	8.3139	0.32088	0.7664:0.0:0.2336:0.0	.	283	P53582	AMPM1_HUMAN	I	283;233;67	ENSP00000296411:N283I;ENSP00000440993:N233I;ENSP00000423071:N67I	.	N	+	2	0	METAP1	100188967	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	4.048000	0.57390	0.031000	0.15407	0.477000	0.44152	AAT		0.403	METAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364237.1	NM_015143	
ADH6	130	broad.mit.edu	37	4	100130001	100130001	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:100130001C>G	ENST00000237653.7	-	6	1036	c.652G>C	c.(652-654)Gcc>Ccc	p.A218P	RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000394899.2_Missense_Mutation_p.A218P|ADH6_ENST00000504257.1_5'UTR|ADH6_ENST00000407820.2_Missense_Mutation_p.A9P|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394897.1_Missense_Mutation_p.A218P|RP11-696N14.1_ENST00000500358.2_RNA	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	218					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)	p.A218P(1)		breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	ATGATCCTGGCTGCTCCTGCT	0.498																																					p.A218P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G652C	4						.						244.0	239.0	240.0					4																	100130001		2203	4300	6503	100349024	SO:0001583	missense	130	exon6			AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"""Alcohol dehydrogenases"""	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.652G>C	4.37:g.100130001C>G	ENSP00000237653:p.Ala218Pro		100349024	NM_000672	B3KS45|Q58F53	Missense_Mutation	SNP	ENST00000237653.7	37	CCDS3647.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.653394	0.29425	.	.	ENSG00000172955	ENST00000394897;ENST00000394899;ENST00000407820;ENST00000237653;ENST00000508558	T;T;T;T;T	0.06371	3.31;3.31;3.31;3.31;3.31	4.64	-0.808	0.10868	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.910346	0.09532	N	0.789457	T	0.19604	0.0471	M	0.83483	2.645	0.09310	N	1	P;D;B;D	0.57571	0.925;0.98;0.002;0.968	P;D;B;P	0.64877	0.769;0.93;0.006;0.492	T	0.11397	-1.0589	10	0.87932	D	0	-8.8242	3.6475	0.08191	0.3306:0.4364:0.0865:0.1465	.	95;218;218;218	B4DPD8;E9PBI1;P28332;P28332-2	.;.;ADH6_HUMAN;.	P	218;218;9;218;154	ENSP00000378358:A218P;ENSP00000378359:A218P;ENSP00000384997:A9P;ENSP00000237653:A218P;ENSP00000426187:A154P	ENSP00000237653:A218P	A	-	1	0	ADH6	100349024	0.000000	0.05858	0.622000	0.29159	0.054000	0.15201	-0.332000	0.07904	-0.110000	0.12022	-0.222000	0.12452	GCC		0.498	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1	NM_000672	
TRMT10A	93587	broad.mit.edu	37	4	100470426	100470426	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:100470426G>A	ENST00000273962.3	-	8	1151	c.839C>T	c.(838-840)cCc>cTc	p.P280L	TRMT10A_ENST00000394877.3_Missense_Mutation_p.P280L|TRMT10A_ENST00000394876.2_Missense_Mutation_p.P280L	NM_152292.4	NP_689505.1	Q8TBZ6	TM10A_HUMAN	tRNA methyltransferase 10 homolog A (S. cerevisiae)	280					magnesium ion homeostasis (GO:0010960)	extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.P280L(1)									TTTGTCTGTGGGAACAGCTCC	0.443																																					p.P280L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C839T	4						.						159.0	148.0	152.0					4																	100470426		2203	4300	6503	100689449	SO:0001583	missense	93587	exon8			BC028373	CCDS3650.1	4q23	2012-06-28	2012-06-28	2012-06-28	ENSG00000145331	ENSG00000145331			28403	protein-coding gene	gene with protein product			"""RNA (guanine-9-) methyltransferase domain containing 2"""	RG9MTD2		12477932	Standard	NM_152292		Approved	MGC27034, TRM10	uc003hva.4	Q8TBZ6	OTTHUMG00000131025	ENST00000273962.3:c.839C>T	4.37:g.100470426G>A	ENSP00000273962:p.Pro280Leu		100689449	NM_001134665	B2R8X7|Q9Y2T9	Missense_Mutation	SNP	ENST00000273962.3	37	CCDS3650.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.558900	0.27827	.	.	ENSG00000145331	ENST00000394877;ENST00000273962;ENST00000394876	T;T;T	0.17054	2.3;2.3;2.3	6.07	6.07	0.98685	.	0.159402	0.56097	D	0.000025	T	0.16428	0.0395	L	0.32530	0.975	0.80722	D	1	B	0.25441	0.126	B	0.28011	0.085	T	0.09487	-1.0672	10	0.09590	T	0.72	-13.3312	20.6593	0.99626	0.0:0.0:1.0:0.0	.	280	Q8TBZ6	RG9D2_HUMAN	L	280	ENSP00000378343:P280L;ENSP00000273962:P280L;ENSP00000378342:P280L	ENSP00000273962:P280L	P	-	2	0	RG9MTD2	100689449	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.063000	0.76714	2.885000	0.99019	0.655000	0.94253	CCC		0.443	TRMT10A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253668.1	NM_152292	
TRMT10A	93587	broad.mit.edu	37	4	100480406	100480406	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:100480406C>T	ENST00000273962.3	-	2	402	c.90G>A	c.(88-90)aaG>aaA	p.K30K	TRMT10A_ENST00000394877.3_Silent_p.K30K|TRMT10A_ENST00000394876.2_Silent_p.K30K	NM_152292.4	NP_689505.1	Q8TBZ6	TM10A_HUMAN	tRNA methyltransferase 10 homolog A (S. cerevisiae)	30					magnesium ion homeostasis (GO:0010960)	extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.K30K(1)									CTAATCTTGGCTTCTGGCTCT	0.383																																					p.K30K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G90A	4						.						251.0	229.0	236.0					4																	100480406		2203	4299	6502	100699429	SO:0001819	synonymous_variant	93587	exon2			BC028373	CCDS3650.1	4q23	2012-06-28	2012-06-28	2012-06-28	ENSG00000145331	ENSG00000145331			28403	protein-coding gene	gene with protein product			"""RNA (guanine-9-) methyltransferase domain containing 2"""	RG9MTD2		12477932	Standard	NM_152292		Approved	MGC27034, TRM10	uc003hva.4	Q8TBZ6	OTTHUMG00000131025	ENST00000273962.3:c.90G>A	4.37:g.100480406C>T			100699429	NM_001134665	B2R8X7|Q9Y2T9	Silent	SNP	ENST00000273962.3	37	CCDS3650.1																																																																																				0.383	TRMT10A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253668.1	NM_152292	
SLC9B1	150159	broad.mit.edu	37	4	103867817	103867817	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:103867817C>A	ENST00000296422.7	-	5	653	c.512G>T	c.(511-513)gGa>gTa	p.G171V	SLC9B1_ENST00000394789.3_Missense_Mutation_p.G171V	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	171					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)	p.G171V(1)									TGGATCGAGTCCAAGCCCAGC	0.343																																					p.G171V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G512T	4						.						72.0	74.0	73.0					4																	103867817		2203	4300	6503	104087266	SO:0001583	missense	150159	exon5			AF447585	CCDS34041.1, CCDS47119.1	4q24	2013-05-22	2012-03-22	2011-07-26	ENSG00000164037	ENSG00000164037		"""Solute carriers"""	24244	protein-coding gene	gene with protein product		611527	"""Na+/H+ exchanger domain containing 1"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 1"""	NHEDC1		16850186	Standard	NM_139173		Approved	NHA1	uc003hww.3	Q4ZJI4	OTTHUMG00000161114	ENST00000296422.7:c.512G>T	4.37:g.103867817C>A	ENSP00000296422:p.Gly171Val		104087266	NM_139173	A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Missense_Mutation	SNP	ENST00000296422.7	37	CCDS34041.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244634	0.59103	.	.	ENSG00000164037	ENST00000394789;ENST00000296422;ENST00000514340;ENST00000452285	T;T;T	0.15372	2.43;2.43;2.43	4.25	4.25	0.50352	.	0.064562	0.64402	D	0.000009	T	0.47414	0.1444	M	0.87328	2.875	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.991	T	0.58098	-0.7696	10	0.87932	D	0	-14.0046	15.3863	0.74703	0.0:1.0:0.0:0.0	.	171;171	Q4ZJI4;Q4ZJI4-3	SL9B1_HUMAN;.	V	171;171;114;171	ENSP00000378269:G171V;ENSP00000296422:G171V;ENSP00000426056:G114V	ENSP00000296422:G171V	G	-	2	0	SLC9B1	104087266	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.728000	0.54991	2.201000	0.70794	0.585000	0.79938	GGA		0.343	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1	NM_139173	
TET2	54790	broad.mit.edu	37	4	106156729	106156729	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:106156729C>T	ENST00000540549.1	+	3	2490	c.1630C>T	c.(1630-1632)Cga>Tga	p.R544*	TET2_ENST00000413648.2_Nonsense_Mutation_p.R544*|TET2_ENST00000305737.2_Nonsense_Mutation_p.R544*|TET2_ENST00000545826.1_Nonsense_Mutation_p.R544*|TET2_ENST00000394764.1_Nonsense_Mutation_p.R544*|TET2_ENST00000513237.1_Nonsense_Mutation_p.R565*|TET2_ENST00000380013.4_Nonsense_Mutation_p.R544*			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	544					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.R544*(7)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TCTGAAGGGTCGAGACAAGGA	0.483			"""Mis N, F"""		MDS																																p.R544X			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	.	.	7	Substitution - Nonsense(7)	haematopoietic_and_lymphoid_tissue(6)|large_intestine(1)	c.C1630T	4						.						87.0	84.0	85.0					4																	106156729		2203	4300	6503	106376178	SO:0001587	stop_gained	54790	exon3			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.1630C>T	4.37:g.106156729C>T	ENSP00000442788:p.Arg544*		106376178	NM_017628	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Nonsense_Mutation	SNP	ENST00000540549.1	37	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.981035	0.92982	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648;ENST00000535110	.	.	.	5.59	1.41	0.22369	.	2.611370	0.01088	N	0.005125	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5457	0.27766	0.255:0.3689:0.3762:0.0	.	.	.	.	X	544;544;544;565;544;544;544;544	.	ENSP00000265149:R544X	R	+	1	2	TET2	106376178	0.001000	0.12720	0.001000	0.08648	0.059000	0.15707	0.597000	0.24059	0.648000	0.30732	0.650000	0.86243	CGA		0.483	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628	
DKK2	27123	broad.mit.edu	37	4	107845301	107845301	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:107845301C>T	ENST00000285311.3	-	4	1295	c.590G>A	c.(589-591)cGt>cAt	p.R197H	DKK2_ENST00000510463.1_Missense_Mutation_p.R151H|DKK2_ENST00000513208.1_Missense_Mutation_p.R97H	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	197	DKK-type Cys-2.				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)		p.R197H(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CCAGAAATGACGAGCACAGCA	0.493																																					p.R197H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G590A	4						.						130.0	120.0	123.0					4																	107845301		2203	4300	6503	108064750	SO:0001583	missense	27123	exon4			AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"""dickkopf (Xenopus laevis) homolog 2"", ""dickkopf 2 homolog (Xenopus laevis)"""			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.590G>A	4.37:g.107845301C>T	ENSP00000285311:p.Arg197His		108064750	NM_014421	A0AVE9|B2R6S7|Q9UIU3	Missense_Mutation	SNP	ENST00000285311.3	37	CCDS3675.1	.	.	.	.	.	.	.	.	.	.	C	34	5.384320	0.95967	.	.	ENSG00000155011	ENST00000285311;ENST00000513208;ENST00000510463	T;T;T	0.59502	0.51;0.26;0.61	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.75102	0.3804	M	0.62154	1.92	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.76228	-0.3036	10	0.72032	D	0.01	-11.5138	19.6876	0.95986	0.0:1.0:0.0:0.0	.	197	Q9UBU2	DKK2_HUMAN	H	197;97;151	ENSP00000285311:R197H;ENSP00000421255:R97H;ENSP00000423797:R151H	ENSP00000285311:R197H	R	-	2	0	DKK2	108064750	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.487000	0.81328	2.657000	0.90304	0.585000	0.79938	CGT		0.493	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4		
RRH	10692	broad.mit.edu	37	4	110763718	110763718	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:110763718C>A	ENST00000317735.4	+	6	848	c.814C>A	c.(814-816)Cct>Act	p.P272T		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	272					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)	p.P272T(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		AAAGAAGATTCCTCCCCCCAT	0.418																																					p.P272T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C814A	4						.						139.0	136.0	137.0					4																	110763718		2203	4300	6503	110983167	SO:0001583	missense	10692	exon6			AF012270	CCDS3687.1	4q25	2012-08-08			ENSG00000180245	ENSG00000180245		"""GPCR / Class A : Opsin receptors"""	10450	protein-coding gene	gene with protein product	"""peropsin"""	605224				9275222	Standard	NM_006583		Approved	peropsin	uc003hzv.3	O14718	OTTHUMG00000132045	ENST00000317735.4:c.814C>A	4.37:g.110763718C>A	ENSP00000314992:p.Pro272Thr		110983167	NM_006583	A1A4V2|Q7RTS4	Missense_Mutation	SNP	ENST00000317735.4	37	CCDS3687.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.813288	0.50527	.	.	ENSG00000180245	ENST00000317735	T	0.38240	1.15	5.79	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.158299	0.56097	D	0.000022	T	0.40247	0.1109	N	0.25426	0.745	0.49483	D	0.999799	D	0.54397	0.966	D	0.64042	0.921	T	0.25012	-1.0144	10	0.52906	T	0.07	.	7.8789	0.29610	0.0:0.7321:0.0:0.2679	.	272	O14718	OPSX_HUMAN	T	272	ENSP00000314992:P272T	ENSP00000314992:P272T	P	+	1	0	RRH	110983167	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	2.318000	0.43779	1.446000	0.47643	0.555000	0.69702	CCT		0.418	RRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255066.1	NM_006583	
ANK2	287	broad.mit.edu	37	4	114262968	114262968	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:114262968A>G	ENST00000357077.4	+	33	4071	c.4018A>G	c.(4018-4020)Att>Gtt	p.I1340V	ANK2_ENST00000510275.2_5'Flank|ANK2_ENST00000509550.1_Missense_Mutation_p.I516V|ANK2_ENST00000264366.6_Missense_Mutation_p.I1307V|ANK2_ENST00000506722.1_Missense_Mutation_p.I1331V|ANK2_ENST00000504887.1_3'UTR|ANK2_ENST00000394537.3_Missense_Mutation_p.I1340V	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1340	UPA domain.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACATGACCCCATTGAAGCCAG	0.418																																					p.I1340V												.	.	0			c.A4018G	4						.						138.0	135.0	136.0					4																	114262968		2203	4300	6503	114482417	SO:0001583	missense	287	exon33			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.4018A>G	4.37:g.114262968A>G	ENSP00000349588:p.Ile1340Val		114482417	NM_020977	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.219|9.219	1.032954|1.032954	0.19590|0.19590	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000514960;ENST00000504415|ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550	.|T;T;T;T;T;T;T	.|0.26373	.|1.74;1.74;1.74;1.74;1.74;1.74;1.74	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.000000	.|0.56097	.|D	.|0.000039	T|T	0.19805|0.19805	0.0476|0.0476	N|N	0.02315|0.02315	-0.6|-0.6	0.80722|0.80722	D|D	1|1	.|P;P;B;P;B;P;B	.|0.35612	.|0.462;0.512;0.066;0.512;0.078;0.498;0.384	.|B;B;B;B;B;P;B	.|0.50617	.|0.113;0.376;0.051;0.054;0.048;0.646;0.355	T|T	0.31475|0.31475	-0.9942|-0.9942	5|10	.|0.09084	.|T	.|0.74	.|.	16.0828|16.0828	0.81017|0.81017	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|516;1307;386;352;1340;1340;1331	.|E9PCH6;Q01484;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5	.|.;ANK2_HUMAN;.;.;.;.;.	R|V	352;34|1253;1331;386;1355;1340;1340;1307;1331;516	.|ENSP00000421011:I1253V;ENSP00000421067:I1331V;ENSP00000424722:I1355V;ENSP00000378044:I1340V;ENSP00000349588:I1340V;ENSP00000264366:I1307V;ENSP00000426944:I516V	.|ENSP00000264366:I1307V	H|I	+|+	2|1	0|0	ANK2|ANK2	114482417|114482417	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.878000|0.878000	0.50629|0.50629	3.849000|3.849000	0.55910|0.55910	2.199000|2.199000	0.70637|0.70637	0.528000|0.528000	0.53228|0.53228	CAT|ATT		0.418	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
PRSS12	8492	broad.mit.edu	37	4	119237393	119237393	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:119237393A>G	ENST00000296498.3	-	6	1518	c.1236T>C	c.(1234-1236)tgT>tgC	p.C412C		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	412	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.C412C(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						AGCCATCATCACAGACAGTTC	0.443																																					p.C412C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1236C	4						.						129.0	116.0	121.0					4																	119237393		2203	4300	6503	119456841	SO:0001819	synonymous_variant	8492	exon6			AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.1236T>C	4.37:g.119237393A>G			119456841	NM_003619	Q9UP16	Silent	SNP	ENST00000296498.3	37	CCDS3709.1																																																																																				0.443	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2		
SYNPO2	171024	broad.mit.edu	37	4	119948174	119948174	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:119948174C>T	ENST00000429713.2	+	3	832	c.650C>T	c.(649-651)gCt>gTt	p.A217V	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000307142.4_Missense_Mutation_p.A217V|SYNPO2_ENST00000434046.2_Missense_Mutation_p.A217V	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	217						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)	p.A217V(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCTTTAGTGGCTCTCCCGGGA	0.502																																					p.A217V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C650T	4						.						38.0	45.0	42.0					4																	119948174		2203	4300	6503	120167622	SO:0001583	missense	171024	exon3			AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.650C>T	4.37:g.119948174C>T	ENSP00000395143:p.Ala217Val		120167622	NM_133477	B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	37	CCDS47129.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.703517	0.30232	.	.	ENSG00000172403	ENST00000307142;ENST00000429713;ENST00000434046	T;T;T	0.08193	3.12;3.13;3.12	5.21	3.43	0.39272	.	0.553845	0.17205	N	0.182960	T	0.09113	0.0225	L	0.51422	1.61	0.80722	D	1	B;B;B;B	0.24483	0.049;0.082;0.104;0.104	B;B;B;B	0.24269	0.023;0.052;0.023;0.014	T	0.08513	-1.0718	10	0.51188	T	0.08	-0.7672	8.3504	0.32299	0.1555:0.766:0.0:0.0786	.	217;217;217;217	B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6	.;.;.;SYNP2_HUMAN	V	217	ENSP00000306015:A217V;ENSP00000395143:A217V;ENSP00000390965:A217V	ENSP00000306015:A217V	A	+	2	0	SYNPO2	120167622	0.955000	0.32602	0.984000	0.44739	0.185000	0.23345	1.596000	0.36718	1.304000	0.44892	-0.321000	0.08615	GCT		0.502	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1		
SYNPO2	171024	broad.mit.edu	37	4	119951700	119951700	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:119951700A>C	ENST00000429713.2	+	4	1952	c.1770A>C	c.(1768-1770)aaA>aaC	p.K590N	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000307142.4_Missense_Mutation_p.K590N|SYNPO2_ENST00000434046.2_Missense_Mutation_p.K590N	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	590						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)	p.K590N(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GAACGGCCAAACCCTTCCCAG	0.537																																					p.K590N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1770C	4						.						106.0	98.0	101.0					4																	119951700		2203	4300	6503	120171148	SO:0001583	missense	171024	exon4			AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.1770A>C	4.37:g.119951700A>C	ENSP00000395143:p.Lys590Asn		120171148	NM_133477	B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	37	CCDS47129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.97|11.97	1.797936|1.797936	0.31777|0.31777	.|.	.|.	ENSG00000172403|ENSG00000172403	ENST00000307142;ENST00000429713;ENST00000434046|ENST00000504178	T;T;T|.	0.40476|.	1.03;1.03;1.03|.	5.42|5.42	-8.29|-8.29	0.01009|0.01009	.|.	0.429460|.	0.23779|.	N|.	0.044643|.	T|T	0.67543|0.67543	0.2904|0.2904	M|M	0.66939|0.66939	2.045|2.045	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D|.	0.59767|.	0.974;0.985;0.986;0.974|.	P;P;P;P|.	0.54270|.	0.563;0.747;0.563;0.563|.	T|T	0.74607|0.74607	-0.3609|-0.3609	9|5	.|.	.|.	.|.	-4.6151|-4.6151	17.8555|17.8555	0.88761|0.88761	0.3427:0.0:0.6573:0.0|0.3427:0.0:0.6573:0.0	.|.	590;590;590;590|.	B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6|.	.;.;.;SYNP2_HUMAN|.	N|P	590|542	ENSP00000306015:K590N;ENSP00000395143:K590N;ENSP00000390965:K590N|.	.|.	K|T	+|+	3|1	2|0	SYNPO2|SYNPO2	120171148|120171148	0.861000|0.861000	0.29849|0.29849	0.131000|0.131000	0.22000|0.22000	0.004000|0.004000	0.04260|0.04260	-0.111000|-0.111000	0.10807|0.10807	-1.488000|-1.488000	0.01847|0.01847	-0.408000|-0.408000	0.06270|0.06270	AAA|ACC		0.537	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1		
SYNPO2	171024	broad.mit.edu	37	4	119952596	119952596	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:119952596A>G	ENST00000429713.2	+	4	2848	c.2666A>G	c.(2665-2667)gAt>gGt	p.D889G	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000307142.4_Missense_Mutation_p.D889G|SYNPO2_ENST00000434046.2_Missense_Mutation_p.D889G	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	889						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)	p.D889G(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TATGTGGTCGATTCAGACACG	0.567																																					p.D889G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2666G	4						.						120.0	112.0	115.0					4																	119952596		2203	4300	6503	120172044	SO:0001583	missense	171024	exon4			AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.2666A>G	4.37:g.119952596A>G	ENSP00000395143:p.Asp889Gly		120172044	NM_133477	B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	37	CCDS47129.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.148635	0.78001	.	.	ENSG00000172403	ENST00000307142;ENST00000429713;ENST00000434046	T;T;T	0.16073	2.4;2.37;2.42	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000003	T	0.43389	0.1245	M	0.74258	2.255	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.996;0.999;0.996;0.989	T	0.28554	-1.0040	9	.	.	.	-23.8573	16.0676	0.80897	1.0:0.0:0.0:0.0	.	889;889;889;889	B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6	.;.;.;SYNP2_HUMAN	G	889	ENSP00000306015:D889G;ENSP00000395143:D889G;ENSP00000390965:D889G	.	D	+	2	0	SYNPO2	120172044	1.000000	0.71417	0.994000	0.49952	0.916000	0.54674	9.339000	0.96797	2.201000	0.70794	0.533000	0.62120	GAT		0.567	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1		
MYOZ2	51778	broad.mit.edu	37	4	120072131	120072131	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:120072131C>T	ENST00000307128.5	+	3	394	c.181C>T	c.(181-183)Cgt>Tgt	p.R61C		NM_016599.4	NP_057683.1			myozenin 2									p.R61C(1)		endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						ATTTAAGATGCGTCAAAGAAG	0.398																																					p.R61C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C181T	4						.						135.0	126.0	129.0					4																	120072131		2203	4300	6503	120291579	SO:0001583	missense	51778	exon3			AF249873	CCDS3711.1	4q26-q27	2014-09-17	2002-01-07	2002-01-11	ENSG00000172399	ENSG00000172399			1330	protein-coding gene	gene with protein product		605602	"""chromosome 4 open reading frame 5"""	C4orf5		8619474, 9110174	Standard	NM_016599		Approved	CS-1	uc003icp.4	Q9NPC6	OTTHUMG00000132968	ENST00000307128.5:c.181C>T	4.37:g.120072131C>T	ENSP00000306997:p.Arg61Cys		120291579	NM_016599		Missense_Mutation	SNP	ENST00000307128.5	37	CCDS3711.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989295	0.93106	.	.	ENSG00000172399	ENST00000307128	D	0.82619	-1.63	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.92306	0.7559	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92940	0.6371	10	0.87932	D	0	-11.1782	18.7213	0.91694	0.0:1.0:0.0:0.0	.	61	Q9NPC6	MYOZ2_HUMAN	C	61	ENSP00000306997:R61C	ENSP00000306997:R61C	R	+	1	0	MYOZ2	120291579	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.182000	0.65059	2.715000	0.92844	0.650000	0.86243	CGT		0.398	MYOZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256526.2		
BBS7	55212	broad.mit.edu	37	4	122754542	122754542	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:122754542T>C	ENST00000264499.4	-	15	1703	c.1520A>G	c.(1519-1521)aAt>aGt	p.N507S	BBS7_ENST00000506636.1_Missense_Mutation_p.N507S	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	507					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)	p.N507S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GGTCAGTGTATTCATGGGTCT	0.393									Bardet-Biedl syndrome																												p.N507S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1520G	4						.						58.0	56.0	56.0					4																	122754542		2203	4300	6503	122973992	SO:0001583	missense	55212	exon15	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.1520A>G	4.37:g.122754542T>C	ENSP00000264499:p.Asn507Ser		122973992	NM_176824	Q4W5P8|Q8N581|Q9NVI4	Missense_Mutation	SNP	ENST00000264499.4	37	CCDS3724.1	.	.	.	.	.	.	.	.	.	.	T	29.1	4.979587	0.92982	.	.	ENSG00000138686	ENST00000264499;ENST00000506636	D;D	0.95949	-3.86;-3.83	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.96824	0.8963	M	0.79475	2.455	0.80722	D	1	D	0.59357	0.985	P	0.57720	0.826	D	0.95855	0.8878	10	0.23302	T	0.38	-27.6931	16.3766	0.83401	0.0:0.0:0.0:1.0	.	507	Q8IWZ6	BBS7_HUMAN	S	507	ENSP00000264499:N507S;ENSP00000423626:N507S	ENSP00000264499:N507S	N	-	2	0	BBS7	122973992	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.127000	0.71642	2.263000	0.75096	0.533000	0.62120	AAT		0.393	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1		
ANKRD50	57182	broad.mit.edu	37	4	125592493	125592493	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:125592493C>A	ENST00000504087.1	-	4	2976	c.1939G>T	c.(1939-1941)Gct>Tct	p.A647S	ANKRD50_ENST00000515641.1_Missense_Mutation_p.A468S	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	647				A -> V (in Ref. 4; BAA86537). {ECO:0000305}.				p.A647S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GCTCTCAAAGCTGTTCGGCTA	0.468																																					p.A468S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1402T	4						.						155.0	134.0	141.0					4																	125592493		2203	4300	6503	125811943	SO:0001583	missense	57182	exon3			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.1939G>T	4.37:g.125592493C>A	ENSP00000425658:p.Ala647Ser		125811943	NM_001167882	A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828920	0.50845	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.69561	-0.41;-0.41	5.21	5.21	0.72293	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.76478	0.3993	L	0.42487	1.325	0.80722	D	1	D	0.54772	0.968	D	0.66979	0.948	T	0.75291	-0.3369	10	0.45353	T	0.12	.	18.9425	0.92610	0.0:1.0:0.0:0.0	.	647	Q9ULJ7	ANR50_HUMAN	S	647;468	ENSP00000425658:A647S;ENSP00000425355:A468S	ENSP00000425658:A647S	A	-	1	0	ANKRD50	125811943	1.000000	0.71417	0.697000	0.30258	0.080000	0.17528	7.164000	0.77533	2.714000	0.92807	0.585000	0.79938	GCT		0.468	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337	
FAT4	79633	broad.mit.edu	37	4	126240482	126240482	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:126240482T>C	ENST00000394329.3	+	1	2929	c.2916T>C	c.(2914-2916)ggT>ggC	p.G972G		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	972	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G972G(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGACATGGGTGTCCCACAGC	0.433																																					p.G972G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T2916C	4						.						84.0	84.0	84.0					4																	126240482		1961	4144	6105	126459932	SO:0001819	synonymous_variant	79633	exon1			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.2916T>C	4.37:g.126240482T>C			126459932	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	CCDS3732.3																																																																																				0.433	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
SLC25A31	83447	broad.mit.edu	37	4	128694630	128694630	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:128694630C>T	ENST00000281154.4	+	6	1017	c.849C>T	c.(847-849)ggC>ggT	p.G283G		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	283					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.G283G(1)		NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						TTTTTCGTGGCGCCTTCTCCA	0.383																																					p.G283G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C849T	4						.						159.0	149.0	152.0					4																	128694630		2203	4300	6503	128914080	SO:0001819	synonymous_variant	83447	exon6			AL136857	CCDS3733.1	4q28	2013-05-22			ENSG00000151475	ENSG00000151475		"""Solute carriers"""	25319	protein-coding gene	gene with protein product		610796				15670820	Standard	NM_031291		Approved	DKFZP434N1235, ANT4	uc003ifl.3	Q9H0C2	OTTHUMG00000133300	ENST00000281154.4:c.849C>T	4.37:g.128694630C>T			128914080	NM_031291		Silent	SNP	ENST00000281154.4	37	CCDS3733.1																																																																																				0.383	SLC25A31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257094.2	NM_031291	
HSPA4L	22824	broad.mit.edu	37	4	128744014	128744014	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:128744014C>T	ENST00000296464.4	+	15	2314	c.1903C>T	c.(1903-1905)Ctg>Ttg	p.L635L	HSPA4L_ENST00000439123.2_Silent_p.L666L|HSPA4L_ENST00000505726.1_Silent_p.L609L|HSPA4L_ENST00000508776.1_Silent_p.L635L	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	635					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.L635L(1)		central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TAGAGACAGGCTGGGCACTGT	0.338																																					p.L635L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1903T	4						.						66.0	70.0	69.0					4																	128744014		2203	4299	6502	128963464	SO:0001819	synonymous_variant	22824	exon15			AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"""Heat shock proteins / HSP70"""	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.1903C>T	4.37:g.128744014C>T			128963464	NM_014278	A2ICT2|Q4W5M5|Q8IWA2	Silent	SNP	ENST00000296464.4	37	CCDS3734.1																																																																																				0.338	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	NM_014278	
MAEA	10296	broad.mit.edu	37	4	1309303	1309303	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:1309303G>A	ENST00000303400.4	+	3	434	c.371G>A	c.(370-372)cGc>cAc	p.R124H	MAEA_ENST00000452175.2_Intron|MAEA_ENST00000505839.1_Missense_Mutation_p.R76H|MAEA_ENST00000510794.1_Missense_Mutation_p.R123H|MAEA_ENST00000514708.1_Missense_Mutation_p.R124H|MAEA_ENST00000505177.2_Missense_Mutation_p.R124H|MAEA_ENST00000264750.6_Missense_Mutation_p.R124H	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	124	Extracellular and involved in cell to cell contact.|LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.				cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cytoskeleton organization (GO:0007010)|enucleate erythrocyte development (GO:0048822)|erythrocyte maturation (GO:0043249)|negative regulation of myeloid cell apoptotic process (GO:0033033)|regulation of mitotic cell cycle (GO:0007346)	actomyosin contractile ring (GO:0005826)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spindle (GO:0005819)	actin binding (GO:0003779)	p.R124H(1)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)		WF10(DB05389)	AAGAGGAAGCGCATGGATCGC	0.662																																					p.R124H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G371A	4						.						79.0	73.0	75.0					4																	1309303		2203	4300	6503	1299303	SO:0001583	missense	10296	exon3			AF084928	CCDS33936.1, CCDS33937.1, CCDS75090.1	4p16.3	2012-07-20			ENSG00000090316	ENSG00000090316			13731	protein-coding gene	gene with protein product	"""GID complex subunit 9, FYV10 homolog (S. cerevisiae)"""	606801				9763581	Standard	XM_005272243		Approved	EMP, GID9	uc003gda.3	Q7L5Y9	OTTHUMG00000160169	ENST00000303400.4:c.371G>A	4.37:g.1309303G>A	ENSP00000302830:p.Arg124His		1299303	NM_001017405	O95285|Q5JB54|Q6ZRD6|Q9BQ11|Q9H9V6|Q9H9Z4|Q9NW84	Missense_Mutation	SNP	ENST00000303400.4	37	CCDS33936.1	.	.	.	.	.	.	.	.	.	.	G	34	5.312998	0.95655	.	.	ENSG00000090316	ENST00000303400;ENST00000505177;ENST00000503653;ENST00000264750;ENST00000382947;ENST00000539495;ENST00000514708;ENST00000510794;ENST00000512842;ENST00000505839	T;T;T;T;T;T	0.65916	0.58;0.39;-0.05;-0.18;0.02;0.58	5.37	4.53	0.55603	LisH dimerisation motif (2);	0.058146	0.64402	D	0.000002	T	0.81465	0.4828	M	0.88704	2.975	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.998;0.999;0.972	D	0.84807	0.0788	10	0.66056	D	0.02	-25.9793	13.6766	0.62458	0.0757:0.0:0.9243:0.0	.	123;124;124;124;124	B4DVN3;Q7L5Y9-2;D6RIB6;Q7L5Y9-3;Q7L5Y9	.;.;.;.;MAEA_HUMAN	H	124;124;124;124;124;103;124;123;76;76	ENSP00000302830:R124H;ENSP00000422215:R124H;ENSP00000421644:R124H;ENSP00000264750:R124H;ENSP00000427512:R124H;ENSP00000426807:R123H	ENSP00000264750:R124H	R	+	2	0	MAEA	1299303	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.493000	0.97960	1.280000	0.44463	0.491000	0.48974	CGC		0.662	MAEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359511.1	NM_005882	
BOD1L1	259282	broad.mit.edu	37	4	13592029	13592029	+	Silent	SNP	G	G	A	rs555836394		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:13592029G>A	ENST00000040738.5	-	14	8325	c.8190C>T	c.(8188-8190)agC>agT	p.S2730S		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2730						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S2730S(1)									TATAAGATTCGCTATGAATTT	0.274													G|||	1	0.000199681	0.0	0.0014	5008	,	,		14939	0.0		0.0	False		,,,				2504	0.0				p.S2730S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C8190T	4						.						22.0	24.0	24.0					4																	13592029		2182	4267	6449	13201127	SO:0001819	synonymous_variant	259282	exon14			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.8190C>T	4.37:g.13592029G>A			13201127	NM_148894	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	CCDS3411.2																																																																																				0.274	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894	
BOD1L1	259282	broad.mit.edu	37	4	13606319	13606319	+	Silent	SNP	C	C	T	rs201716332		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:13606319C>T	ENST00000040738.5	-	10	2340	c.2205G>A	c.(2203-2205)tcG>tcA	p.S735S		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	735	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S735S(1)									ATTTGTCTTCCGATGGAGTTT	0.363																																					p.S735S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2205A	4						.	T		0,4404		0,0,2202	82.0	79.0	80.0		2205	-4.1	0.1	4		80	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BOD1L	NM_148894.2		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		735/3052	13606319	1,13003	2202	4300	6502	13215417	SO:0001819	synonymous_variant	259282	exon10			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.2205G>A	4.37:g.13606319C>T			13215417	NM_148894	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	CCDS3411.2																																																																																				0.363	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894	
HSPA4L	22824	broad.mit.edu	37	4	128753856	128753856	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:128753856A>T	ENST00000296464.4	+	19	2758	c.2347A>T	c.(2347-2349)Aac>Tac	p.N783Y	HSPA4L_ENST00000439123.2_Missense_Mutation_p.N814Y|HSPA4L_ENST00000505726.1_Missense_Mutation_p.N757Y|HSPA4L_ENST00000508776.1_Missense_Mutation_p.N783Y	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	783					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.N783Y(1)		central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TAATTTCTGTAACCCCATCAT	0.353																																					p.N783Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2347T	4						.						116.0	119.0	118.0					4																	128753856		2203	4300	6503	128973306	SO:0001583	missense	22824	exon19			AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"""Heat shock proteins / HSP70"""	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.2347A>T	4.37:g.128753856A>T	ENSP00000296464:p.Asn783Tyr		128973306	NM_014278	A2ICT2|Q4W5M5|Q8IWA2	Missense_Mutation	SNP	ENST00000296464.4	37	CCDS3734.1	.	.	.	.	.	.	.	.	.	.	A	11.38	1.621239	0.28889	.	.	ENSG00000164070	ENST00000508776;ENST00000439123;ENST00000296464;ENST00000505726	T;T;T;T	0.15952	2.38;2.38;2.38;2.38	4.72	3.54	0.40534	.	0.049854	0.85682	D	0.000000	T	0.31199	0.0789	M	0.75447	2.3	0.54753	D	0.999988	D;D	0.59767	0.972;0.986	P;P	0.57679	0.825;0.757	T	0.03463	-1.1034	10	0.62326	D	0.03	.	6.467	0.21987	0.763:0.1568:0.0802:0.0	.	757;783	E9PDE8;O95757	.;HS74L_HUMAN	Y	783;814;783;757	ENSP00000422482:N783Y;ENSP00000393926:N814Y;ENSP00000296464:N783Y;ENSP00000425645:N757Y	ENSP00000296464:N783Y	N	+	1	0	HSPA4L	128973306	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.366000	0.52343	0.849000	0.35215	-0.385000	0.06624	AAC		0.353	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	NM_014278	
PCDH10	57575	broad.mit.edu	37	4	134072277	134072277	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:134072277G>A	ENST00000264360.5	+	1	1808	c.982G>A	c.(982-984)Gtg>Atg	p.V328M	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	328	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.V328M(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CCAAGTGTACGTGCAAGCCAA	0.617																																					p.V328M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G982A	4						.						99.0	90.0	93.0					4																	134072277		2203	4300	6503	134291727	SO:0001583	missense	57575	exon1			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.982G>A	4.37:g.134072277G>A	ENSP00000264360:p.Val328Met		134291727	NM_032961	Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.275270	0.59649	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.56941	0.43	4.34	4.34	0.51931	Cadherin (4);Cadherin-like (1);	0.000000	0.40818	N	0.001004	T	0.81074	0.4747	H	0.96080	3.765	0.58432	D	0.999998	D;D	0.89917	0.989;1.0	P;D	0.77004	0.787;0.989	D	0.88026	0.2772	10	0.87932	D	0	.	16.6535	0.85223	0.0:0.0:1.0:0.0	.	328;328	Q9P2E7;Q96SF0	PCD10_HUMAN;.	M	328	ENSP00000264360:V328M	ENSP00000264360:V328M	V	+	1	0	PCDH10	134291727	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.621000	0.74228	2.230000	0.72887	0.407000	0.27541	GTG		0.617	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961	
PCDH18	54510	broad.mit.edu	37	4	138450886	138450886	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:138450886T>A	ENST00000344876.4	-	1	2743	c.2357A>T	c.(2356-2358)gAa>gTa	p.E786V	PCDH18_ENST00000510305.1_5'UTR|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.E566V|PCDH18_ENST00000412923.2_Missense_Mutation_p.E786V	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	786					brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E786V(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CTGCCCTCTTTCTAAGGTAGG	0.478																																					p.E786V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2357T	4						.						120.0	105.0	110.0					4																	138450886		2203	4300	6503	138670336	SO:0001583	missense	54510	exon1			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.2357A>T	4.37:g.138450886T>A	ENSP00000355082:p.Glu786Val		138670336	NM_019035	A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	T	17.53	3.413865	0.62511	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.55930	0.59;0.58;0.49	5.53	5.53	0.82687	.	0.000000	0.44097	D	0.000493	T	0.60637	0.2284	M	0.61703	1.905	0.80722	D	1	D;P;D	0.63880	0.981;0.763;0.993	P;B;P	0.52109	0.69;0.361;0.69	T	0.58381	-0.7646	10	0.27785	T	0.31	.	15.8331	0.78773	0.0:0.0:0.0:1.0	.	566;786;786	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	V	786;786;566	ENSP00000355082:E786V;ENSP00000390688:E786V;ENSP00000425903:E566V	ENSP00000355082:E786V	E	-	2	0	PCDH18	138670336	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.473000	0.81007	2.315000	0.78130	0.533000	0.62120	GAA		0.478	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035	
CCRN4L	25819	broad.mit.edu	37	4	139965944	139965944	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:139965944G>A	ENST00000280614.2	+	3	805	c.612G>A	c.(610-612)caG>caA	p.Q204Q	ELF2_ENST00000515489.1_Intron	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like (S. cerevisiae)	204					circadian regulation of gene expression (GO:0032922)|cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of gene expression (GO:0010629)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|regulation of circadian rhythm (GO:0042752)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|response to extracellular stimulus (GO:0009991)|response to lipopolysaccharide (GO:0032496)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A)-specific ribonuclease activity (GO:0004535)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q204Q(1)		kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					ACACCTTCCAGCCACTCCTCA	0.478																																					p.Q204Q	Ovarian(144;566 1842 19130 21379 22209)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G612A	4						.						123.0	107.0	113.0					4																	139965944		2203	4300	6503	140185394	SO:0001819	synonymous_variant	25819	exon3			AF183961	CCDS3743.1	4q31.1	2014-06-18	2001-11-28		ENSG00000151014	ENSG00000151014			14254	protein-coding gene	gene with protein product		608468	"""CCR4-like (carbon catabolite repression 4, S.cerevisiae)"""			10521507	Standard	NM_012118		Approved	CCR4L, Ccr4c	uc003ihl.3	Q9UK39	OTTHUMG00000161271	ENST00000280614.2:c.612G>A	4.37:g.139965944G>A			140185394	NM_012118	D3DNY5|Q14D51|Q9HD93|Q9HD94|Q9HD95	Silent	SNP	ENST00000280614.2	37	CCDS3743.1																																																																																				0.478	CCRN4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257231.3	NM_012118	
GAB1	2549	broad.mit.edu	37	4	144390322	144390322	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:144390322C>T	ENST00000262994.4	+	10	2367	c.2065C>T	c.(2065-2067)Cca>Tca	p.P689S	GAB1_ENST00000505913.1_Missense_Mutation_p.P586S|GAB1_ENST00000262995.4_Missense_Mutation_p.P719S	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	689					activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.P719S(1)		breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					ATCAGAAACGCCAGCGAAGAG	0.418																																					p.P719S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2155T	4						.						108.0	110.0	110.0					4																	144390322		2203	4300	6503	144609772	SO:0001583	missense	2549	exon11			U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"""Pleckstrin homology (PH) domain containing"""	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.2065C>T	4.37:g.144390322C>T	ENSP00000262994:p.Pro689Ser		144609772	NM_207123	A8K152|Q4W5G2|Q6P1W2	Missense_Mutation	SNP	ENST00000262994.4	37	CCDS3759.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.749790	0.30955	.	.	ENSG00000109458	ENST00000262995;ENST00000262994;ENST00000505913;ENST00000512843	T;T;T	0.12879	2.64;2.64;2.64	6.07	6.07	0.98685	.	0.105878	0.64402	D	0.000003	T	0.17662	0.0424	L	0.40543	1.245	0.80722	D	1	B;P	0.42908	0.379;0.793	B;B	0.43916	0.122;0.436	T	0.02098	-1.1214	10	0.16420	T	0.52	-15.7837	20.6593	0.99626	0.0:1.0:0.0:0.0	.	689;719	Q13480;Q13480-2	GAB1_HUMAN;.	S	719;689;586;78	ENSP00000262995:P719S;ENSP00000262994:P689S;ENSP00000424554:P586S	ENSP00000262994:P689S	P	+	1	0	GAB1	144609772	1.000000	0.71417	0.995000	0.50966	0.265000	0.26407	5.636000	0.67848	2.885000	0.99019	0.655000	0.94253	CCA		0.418	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364998.1	NM_002039	
OTUD4	54726	broad.mit.edu	37	4	146067563	146067563	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:146067563T>A	ENST00000447906.2	-	14	1465	c.1278A>T	c.(1276-1278)agA>agT	p.R426S	OTUD4_ENST00000454497.2_Missense_Mutation_p.R361S|OTUD4_ENST00000455611.2_5'UTR			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	426					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.R360S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AATCCTCAACTCTTTCACGAT	0.318																																					p.R361S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1083T	4						.						108.0	110.0	109.0					4																	146067563		2203	4300	6503	146287013	SO:0001583	missense	54726	exon14				CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.1278A>T	4.37:g.146067563T>A	ENSP00000395487:p.Arg426Ser		146287013	NM_001102653	B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37		.	.	.	.	.	.	.	.	.	.	T	18.02	3.530301	0.64860	.	.	ENSG00000164164	ENST00000454497;ENST00000447906;ENST00000514973	T;T;T	0.39592	1.41;1.41;1.07	5.36	2.8	0.32819	.	0.000000	0.64402	D	0.000001	T	0.52549	0.1741	M	0.68317	2.08	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.72625	0.978;0.951	T	0.53781	-0.8390	10	0.11182	T	0.66	-18.5608	7.5983	0.28061	0.0:0.1359:0.1197:0.7444	.	426;425	G3V0I6;Q01804	.;OTUD4_HUMAN	S	361;426;360	ENSP00000409279:R361S;ENSP00000395487:R426S;ENSP00000425972:R360S	ENSP00000395487:R426S	R	-	3	2	OTUD4	146287013	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.936000	0.40183	0.927000	0.37143	0.533000	0.62120	AGA		0.318	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493	
FBXL5	26234	broad.mit.edu	37	4	15627568	15627568	+	Missense_Mutation	SNP	C	C	T	rs144046392	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:15627568C>T	ENST00000341285.3	-	9	1281	c.1157G>A	c.(1156-1158)cGg>cAg	p.R386Q	FBXL5_ENST00000382358.4_Missense_Mutation_p.R260Q|FBXL5_ENST00000412094.2_Missense_Mutation_p.R369Q	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	386					iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)	p.R386Q(1)		endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						ATCAAGATGCCGAAGACTCTG	0.373													C|||	2	0.000399361	0.0	0.0029	5008	,	,		17865	0.0		0.0	False		,,,				2504	0.0				p.R386Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1157A	4						.	C	GLN/ARG,GLN/ARG,GLN/ARG	1,4399		0,1,2199	26.0	26.0	26.0		1154,1106,1157	5.2	1.0	4	dbSNP_134	26	1,8581		0,1,4290	yes	missense,missense,missense	FBXL5	NM_001193534.1,NM_001193535.1,NM_012161.3	43,43,43	0,2,6489	TT,TC,CC		0.0117,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging	385/691,369/675,386/692	15627568	2,12980	2200	4291	6491	15236666	SO:0001583	missense	26234	exon9			AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"""F-boxes / Leucine-rich repeats"""	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.1157G>A	4.37:g.15627568C>T	ENSP00000344866:p.Arg386Gln		15236666	NM_012161	A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Missense_Mutation	SNP	ENST00000341285.3	37	CCDS3415.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	21.6	4.173781	0.78452	2.27E-4	1.17E-4	ENSG00000118564	ENST00000341285;ENST00000412094;ENST00000382358	T;T;T	0.17054	2.3;2.3;2.3	6.02	5.18	0.71444	.	0.106857	0.64402	D	0.000003	T	0.23766	0.0575	L	0.38175	1.15	0.44523	D	0.99747	B;D	0.63880	0.03;0.993	B;P	0.51999	0.005;0.687	T	0.00918	-1.1515	10	0.41790	T	0.15	-18.5305	15.4976	0.75666	0.0:0.9337:0.0:0.0663	.	369;386	Q9UKA1-2;Q9UKA1	.;FBXL5_HUMAN	Q	386;369;260	ENSP00000344866:R386Q;ENSP00000408679:R369Q;ENSP00000371795:R260Q	ENSP00000344866:R386Q	R	-	2	0	FBXL5	15236666	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.551000	0.67274	1.548000	0.49413	0.650000	0.86243	CGG		0.373	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214235.2		
POU4F2	5458	broad.mit.edu	37	4	147561422	147561422	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:147561422C>A	ENST00000281321.3	+	2	940	c.692C>A	c.(691-693)gCa>gAa	p.A231E	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	231					axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.A231E(1)		NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ATGCACCAAGCAGCGCTCAGC	0.736																																					p.A231E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C692A	4						.						12.0	14.0	13.0					4																	147561422		2188	4286	6474	147780872	SO:0001583	missense	5458	exon2			U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.692C>A	4.37:g.147561422C>A	ENSP00000281321:p.Ala231Glu		147780872	NM_004575	B1PJR6|B2RC84|Q13883|Q14987	Missense_Mutation	SNP	ENST00000281321.3	37	CCDS34074.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545177	0.65198	.	.	ENSG00000151615	ENST00000281321	D	0.83506	-1.73	5.42	5.42	0.78866	.	0.000000	0.40385	N	0.001102	T	0.74152	0.3679	L	0.29908	0.895	0.80722	D	1	P	0.45569	0.861	B	0.39339	0.297	T	0.72308	-0.4332	10	0.11485	T	0.65	.	18.841	0.92184	0.0:1.0:0.0:0.0	.	231	Q12837	PO4F2_HUMAN	E	231	ENSP00000281321:A231E	ENSP00000281321:A231E	A	+	2	0	POU4F2	147780872	0.998000	0.40836	0.955000	0.39395	0.990000	0.78478	3.901000	0.56303	2.561000	0.86390	0.462000	0.41574	GCA		0.736	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575	
FGA	2243	broad.mit.edu	37	4	155508664	155508664	+	Splice_Site	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:155508664C>A	ENST00000302053.3	-	4	588	c.510G>T	c.(508-510)gaG>gaT	p.E170D	FGA_ENST00000403106.3_Splice_Site_p.E170D	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	170					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)	p.E170D(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	ACATACTTACCTCCAGTCGTT	0.423																																					p.E170D	NSCLC(143;340 1922 20892 22370 48145)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G510T	4						.						159.0	145.0	150.0					4																	155508664		2203	4300	6503	155728114	SO:0001630	splice_region_variant	2243	exon4				CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.510+1G>T	4.37:g.155508664C>A			155728114	NM_021871	A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577214	0.65878	.	.	ENSG00000171560	ENST00000302053;ENST00000403106;ENST00000457487	D;D	0.89552	-2.53;-2.53	6.16	5.32	0.75619	Fibrinogen, alpha/beta/gamma chain, coiled coil domain (2);	0.108814	0.64402	D	0.000002	D	0.94102	0.8109	M	0.78049	2.395	0.58432	D	0.999997	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	D	0.94110	0.7370	9	.	.	.	.	15.1478	0.72671	0.0:0.9321:0.0:0.0679	.	170;170	P02671-2;P02671	.;FIBA_HUMAN	D	170	ENSP00000306361:E170D;ENSP00000385981:E170D	.	E	-	3	2	FGA	155728114	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	3.583000	0.53928	1.617000	0.50277	0.650000	0.86243	GAG		0.423	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508	Missense_Mutation
RBM46	166863	broad.mit.edu	37	4	155720058	155720058	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:155720058A>G	ENST00000281722.3	+	4	979	c.744A>G	c.(742-744)acA>acG	p.T248T	RBM46_ENST00000514866.1_Silent_p.T248T|RBM46_ENST00000510397.1_Silent_p.T248T	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	248	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.T248T(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				TCTCAACTACAGAGGAAACAA	0.373																																					p.T248T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A744G	4						.						52.0	51.0	52.0					4																	155720058		2203	4300	6503	155939508	SO:0001819	synonymous_variant	166863	exon4			BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962		"""RNA binding motif (RRM) containing"""	28401	protein-coding gene	gene with protein product	"""cancer/testis antigen 68"""					12477932	Standard	NM_144979		Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000281722.3:c.744A>G	4.37:g.155720058A>G			155939508	NM_144979	B3KWU8|B4DZ27	Silent	SNP	ENST00000281722.3	37	CCDS3790.1																																																																																				0.373	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365259.1	NM_144979	
GLRB	2743	broad.mit.edu	37	4	158041767	158041767	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:158041767A>T	ENST00000264428.4	+	3	452	c.182A>T	c.(181-183)aAc>aTc	p.N61I	GLRB_ENST00000509282.1_Missense_Mutation_p.N61I|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Missense_Mutation_p.N61I	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	61					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)	p.N61I(1)		central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	AATATCTTGAACAGGTTATTG	0.358																																					p.N61I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A182T	4						.						112.0	118.0	116.0					4																	158041767		2203	4300	6503	158261217	SO:0001583	missense	2743	exon3			U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.182A>T	4.37:g.158041767A>T	ENSP00000264428:p.Asn61Ile		158261217	NM_001166060	A8K3K2|D3DP23|F5GWE1	Missense_Mutation	SNP	ENST00000264428.4	37	CCDS3796.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.285526	0.80803	.	.	ENSG00000109738	ENST00000264428;ENST00000541722;ENST00000509282	T;T;T	0.79141	-1.24;-1.24;-1.24	5.28	5.28	0.74379	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.84447	0.5474	L	0.50919	1.6	0.80722	D	1	D	0.71674	0.998	D	0.68483	0.958	D	0.86218	0.1629	10	0.87932	D	0	.	15.4906	0.75602	1.0:0.0:0.0:0.0	.	61	P48167	GLRB_HUMAN	I	61	ENSP00000264428:N61I;ENSP00000441873:N61I;ENSP00000427186:N61I	ENSP00000264428:N61I	N	+	2	0	GLRB	158261217	1.000000	0.71417	0.998000	0.56505	0.823000	0.46562	8.726000	0.91474	2.126000	0.65437	0.254000	0.18369	AAC		0.358	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366507.1	NM_000824	
GRIA2	2891	broad.mit.edu	37	4	158262430	158262430	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:158262430G>A	ENST00000264426.9	+	12	2138	c.1859G>A	c.(1858-1860)cGc>cAc	p.R620H	GRIA2_ENST00000507898.1_Missense_Mutation_p.R573H|GRIA2_ENST00000449365.1_Missense_Mutation_p.R573H|GRIA2_ENST00000393815.2_Missense_Mutation_p.R573H|GRIA2_ENST00000296526.7_Missense_Mutation_p.R620H	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	620					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.R620H(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	CTCTCTGGGCGCATTGTTGGA	0.408																																					p.R573H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1718A	4						.						161.0	158.0	159.0					4																	158262430		2203	4299	6502	158481880	SO:0001583	missense	2891	exon12				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1859G>A	4.37:g.158262430G>A	ENSP00000264426:p.Arg620His		158481880	NM_001083620	A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	G	32	5.166198	0.94768	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85	5.63	5.63	0.86233	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	D	0.91862	0.7424	H	0.97635	4.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.996	D	0.94029	0.7299	10	0.87932	D	0	.	20.0442	0.97604	0.0:0.0:1.0:0.0	.	620;620;573	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	H	573;573;620;620;573	ENSP00000426845:R573H;ENSP00000377403:R573H;ENSP00000296526:R620H;ENSP00000264426:R620H;ENSP00000389837:R573H	ENSP00000264426:R620H	R	+	2	0	GRIA2	158481880	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.813000	0.99286	2.814000	0.96858	0.655000	0.94253	CGC		0.408	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2		
FAM198B	51313	broad.mit.edu	37	4	159091793	159091793	+	Silent	SNP	A	A	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:159091793A>C	ENST00000296530.8	-	2	1356	c.735T>G	c.(733-735)cgT>cgG	p.R245R	RP11-597D13.9_ENST00000509463.1_RNA|RP11-597D13.9_ENST00000505532.1_RNA|RP11-597D13.9_ENST00000514381.1_RNA|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000592057.1_Silent_p.R245R|FAM198B_ENST00000393807.5_Silent_p.R245R|FAM198B_ENST00000585682.1_Silent_p.R245R|FAM198B_ENST00000589306.1_Intron	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	245						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.R245R(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						GCACCAGCAAACGGGCTCCGC	0.647											OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R245R												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T735G	4						.						29.0	34.0	32.0					4																	159091793		2202	4299	6501	159311243	SO:0001819	synonymous_variant	51313	exon2				CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 18"""	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.735T>G	4.37:g.159091793A>C		1798	159311243	NM_001128424	Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Silent	SNP	ENST00000296530.8	37	CCDS3798.1																																																																																				0.647	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613	
FAM53A	152877	broad.mit.edu	37	4	1643229	1643229	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:1643229G>T	ENST00000308132.6	-	5	1180	c.988C>A	c.(988-990)Ctc>Atc	p.L330I	FAM53A_ENST00000461064.1_Missense_Mutation_p.L330I|FAM53A_ENST00000472884.2_Missense_Mutation_p.L330I|FAM53A_ENST00000489363.1_3'UTR	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	family with sequence similarity 53, member A	330						nucleus (GO:0005634)		p.L330I(1)		breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			ATGCCAGGGAGGCCCCGGGAG	0.582																																					p.L330I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C988A	4						.						114.0	129.0	124.0					4																	1643229		2203	4300	6503	1613045	SO:0001583	missense	152877	exon5			BC070112	CCDS33939.1, CCDS75091.1	4p16.3	2005-08-09			ENSG00000174137	ENSG00000174137			31860	protein-coding gene	gene with protein product							Standard	NM_001013622		Approved	DNTNP	uc021xkl.1	Q6NSI3	OTTHUMG00000159855	ENST00000308132.6:c.988C>A	4.37:g.1643229G>T	ENSP00000310057:p.Leu330Ile		1613045	NM_001174070	Q6ZUL5	Missense_Mutation	SNP	ENST00000308132.6	37	CCDS33939.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.302198	0.60195	.	.	ENSG00000174137	ENST00000308132;ENST00000461064;ENST00000472884	T;T;T	0.52983	0.64;0.64;0.64	4.01	4.01	0.46588	.	0.784292	0.10462	U	0.671824	T	0.60483	0.2272	L	0.59436	1.845	0.34652	D	0.721803	D	0.67145	0.996	P	0.59703	0.862	T	0.66602	-0.5882	10	0.62326	D	0.03	-18.8142	10.9268	0.47195	0.0932:0.0:0.9068:0.0	.	330	Q6NSI3	FA53A_HUMAN	I	330	ENSP00000310057:L330I;ENSP00000418243:L330I;ENSP00000426260:L330I	ENSP00000310057:L330I	L	-	1	0	FAM53A	1613045	0.997000	0.39634	0.115000	0.21578	0.018000	0.09664	3.530000	0.53539	1.808000	0.52836	0.460000	0.39030	CTC		0.582	FAM53A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359224.1	NM_001013622	
FNIP2	57600	broad.mit.edu	37	4	159790373	159790373	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:159790373C>A	ENST00000264433.6	+	13	2660	c.2585C>A	c.(2584-2586)cCt>cAt	p.P862H	FNIP2_ENST00000379346.3_Missense_Mutation_p.P885H	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	862	Interaction with PRKAA1.				intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P188H(1)|p.P862H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		CAGCGGGGCCCTGGCCTCGTG	0.592																																					p.P862H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2585A	4						.						36.0	40.0	39.0					4																	159790373		2015	4188	6203	160009823	SO:0001583	missense	57600	exon13			AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 1"""	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.2585C>A	4.37:g.159790373C>A	ENSP00000264433:p.Pro862His		160009823	NM_020840	Q05DC3|Q96I31|Q9H994	Missense_Mutation	SNP	ENST00000264433.6	37	CCDS47155.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.600767	0.46423	.	.	ENSG00000052795	ENST00000264433;ENST00000379346	T;T	0.21932	1.98;1.98	4.91	3.91	0.45181	.	0.797412	0.12110	N	0.498583	T	0.20333	0.0489	L	0.44542	1.39	0.09310	N	1	P	0.44946	0.846	B	0.41202	0.35	T	0.06127	-1.0844	9	.	.	.	.	11.2225	0.48864	0.0:0.889:0.0:0.111	.	862	Q9P278	FNIP2_HUMAN	H	862;885	ENSP00000264433:P862H;ENSP00000368651:P885H	.	P	+	2	0	FNIP2	160009823	0.000000	0.05858	0.021000	0.16686	0.027000	0.11550	0.158000	0.16422	0.944000	0.37579	0.655000	0.94253	CCT		0.592	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840	
TACC3	10460	broad.mit.edu	37	4	1725161	1725161	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:1725161G>T	ENST00000313288.4	+	2	119	c.13G>T	c.(13-15)Gtc>Ttc	p.V5F	TMEM129_ENST00000536901.1_5'Flank|TMEM129_ENST00000382936.3_5'Flank|TMEM129_ENST00000303277.2_5'Flank	NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	5					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.V5F(1)		central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GAGTCTGCAGGTCTTAAACGA	0.453																																					p.V5F	Ovarian(120;482 2294 11894 35824)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G13T	4						.						54.0	52.0	52.0					4																	1725161		2203	4299	6502	1694959	SO:0001583	missense	10460	exon2			AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.13G>T	4.37:g.1725161G>T	ENSP00000326550:p.Val5Phe		1694959	NM_006342	Q2NKK4|Q3KQS5|Q9UMQ1	Missense_Mutation	SNP	ENST00000313288.4	37	CCDS3352.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.380475	0.24944	.	.	ENSG00000013810	ENST00000485989;ENST00000313288;ENST00000343760;ENST00000493975;ENST00000458173	T;T;T;T	0.53206	0.71;2.63;0.63;0.64	5.19	-10.4	0.00318	.	0.603487	0.13770	N	0.363952	T	0.40247	0.1109	L	0.38175	1.15	0.09310	N	0.999999	P;D;B	0.57257	0.902;0.979;0.437	P;P;B	0.55824	0.498;0.785;0.08	T	0.58047	-0.7705	10	0.72032	D	0.01	-4.7922	8.1107	0.30914	0.4082:0.2125:0.3793:0.0	.	5;5;5	B4DYJ1;C9JWI7;Q9Y6A5	.;.;TACC3_HUMAN	F	5	ENSP00000419210:V5F;ENSP00000326550:V5F;ENSP00000418095:V5F;ENSP00000415914:V5F	ENSP00000326550:V5F	V	+	1	0	TACC3	1694959	0.183000	0.23186	0.004000	0.12327	0.129000	0.20672	-0.453000	0.06778	-2.483000	0.00521	-1.809000	0.00614	GTC		0.453	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2		
SPOCK3	50859	broad.mit.edu	37	4	167713329	167713329	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:167713329T>G	ENST00000357154.3	-	8	847	c.710A>C	c.(709-711)gAg>gCg	p.E237A	SPOCK3_ENST00000512648.1_Missense_Mutation_p.E234A|SPOCK3_ENST00000511269.1_Missense_Mutation_p.E234A|SPOCK3_ENST00000511531.1_Missense_Mutation_p.E237A|SPOCK3_ENST00000512681.1_Missense_Mutation_p.E139A|SPOCK3_ENST00000504953.1_Missense_Mutation_p.E234A|SPOCK3_ENST00000502330.1_Missense_Mutation_p.E237A|SPOCK3_ENST00000421836.2_Missense_Mutation_p.E186A|SPOCK3_ENST00000510741.1_Intron|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000357545.4_Missense_Mutation_p.E234A|SPOCK3_ENST00000506886.1_Missense_Mutation_p.E237A|SPOCK3_ENST00000541637.1_Missense_Mutation_p.E139A|SPOCK3_ENST00000534949.1_Missense_Mutation_p.E141A|SPOCK3_ENST00000535728.1_Intron|SPOCK3_ENST00000541354.1_Missense_Mutation_p.E117A	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	237					negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)	p.E234A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		ACTGCTTCTCTCAGGCCTCAG	0.383																																					p.E237A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A710C	4						.						105.0	88.0	94.0					4																	167713329		2203	4300	6503	167949904	SO:0001583	missense	50859	exon8			AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.710A>C	4.37:g.167713329T>G	ENSP00000349677:p.Glu237Ala		167949904	NM_016950	B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Missense_Mutation	SNP	ENST00000357154.3	37	CCDS54817.1	.	.	.	.	.	.	.	.	.	.	T	11.33	1.607927	0.28623	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000541354;ENST00000512681;ENST00000511269;ENST00000421836;ENST00000541637;ENST00000534949;ENST00000512648;ENST00000510403	T;T;T;T;T;T;T;T;T;T;T;T;T;D	0.88818	1.53;1.53;1.53;1.53;1.53;1.53;1.43;0.95;1.53;1.32;0.95;1.21;2.24;-2.43	5.33	5.33	0.75918	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.81517	0.4839	N	0.10874	0.06	0.58432	D	0.999999	P;P;B;P;P;P;P	0.52692	0.543;0.88;0.173;0.775;0.955;0.734;0.775	B;B;B;B;P;B;B	0.48524	0.306;0.355;0.124;0.306;0.58;0.203;0.306	T	0.79612	-0.1731	10	0.08837	T	0.75	-10.1513	15.5774	0.76404	0.0:0.0:0.0:1.0	.	139;141;186;246;237;234;237	B4DGK5;F5H099;B4DHB4;B4DFW5;Q9BQ16-2;Q9BQ16-1;Q9BQ16	.;.;.;.;.;.;TICN3_HUMAN	A	237;234;234;237;237;237;117;139;234;186;139;141;234;116	ENSP00000349677:E237A;ENSP00000350153:E234A;ENSP00000425570:E234A;ENSP00000420920:E237A;ENSP00000423421:E237A;ENSP00000423606:E237A;ENSP00000444789:E117A;ENSP00000426318:E139A;ENSP00000425502:E234A;ENSP00000411344:E186A;ENSP00000445430:E139A;ENSP00000438142:E141A;ENSP00000426177:E234A;ENSP00000423176:E116A	ENSP00000349677:E237A	E	-	2	0	SPOCK3	167949904	1.000000	0.71417	1.000000	0.80357	0.533000	0.34776	5.318000	0.65829	2.140000	0.66376	0.460000	0.39030	GAG		0.383	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1		
MFAP3L	9848	broad.mit.edu	37	4	170912957	170912957	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:170912957G>A	ENST00000361618.3	-	3	1109	c.802C>T	c.(802-804)Cag>Tag	p.Q268*	RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Nonsense_Mutation_p.Q165*	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	268						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q268*(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		ACAAAATTCTGCCCCTGCTCC	0.587																																					p.Q268X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C802T	4						.						65.0	63.0	64.0					4																	170912957		2203	4300	6503	171149532	SO:0001587	stop_gained	9848	exon3			AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948		"""Immunoglobulin superfamily / I-set domain containing"""	29083	protein-coding gene	gene with protein product						9734811	Standard	XM_005263366		Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000361618.3:c.802C>T	4.37:g.170912957G>A	ENSP00000354583:p.Gln268*		171149532	NM_021647	A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	Nonsense_Mutation	SNP	ENST00000361618.3	37	CCDS34103.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256021	0.39896	.	.	ENSG00000198948	ENST00000393704;ENST00000361618	.	.	.	5.53	5.53	0.82687	.	0.051518	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-32.3501	19.4623	0.94922	0.0:0.0:1.0:0.0	.	.	.	.	X	165;268	.	ENSP00000354583:Q268X	Q	-	1	0	MFAP3L	171149532	1.000000	0.71417	0.988000	0.46212	0.002000	0.02628	9.803000	0.99136	2.591000	0.87537	0.650000	0.86243	CAG		0.587	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363043.2	NM_021647	
GALNTL6	442117	broad.mit.edu	37	4	172735789	172735789	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:172735789A>G	ENST00000506823.1	+	2	715	c.58A>G	c.(58-60)Att>Gtt	p.I20V	GALNTL6_ENST00000511251.1_Missense_Mutation_p.I20V	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	20					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.I20V(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GGTGGCTTTAATTTTCCTGCC	0.478																																					p.I20V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A58G	4						.						122.0	123.0	123.0					4																	172735789		2203	4300	6503	172972364	SO:0001583	missense	442117	exon2				CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.58A>G	4.37:g.172735789A>G	ENSP00000423313:p.Ile20Val		172972364	NM_001034845	Q2L4S6	Missense_Mutation	SNP	ENST00000506823.1	37	CCDS34104.1	.	.	.	.	.	.	.	.	.	.	A	6.006	0.369591	0.11352	.	.	ENSG00000174473	ENST00000511251;ENST00000506823;ENST00000404275	T	0.54071	0.59	5.7	5.7	0.88788	.	0.677355	0.12696	N	0.446738	T	0.36358	0.0964	N	0.20685	0.6	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14035	-1.0487	10	0.02654	T	1	.	15.1442	0.72637	1.0:0.0:0.0:0.0	.	20	Q49A17	GLTL6_HUMAN	V	20	ENSP00000423313:I20V	ENSP00000385382:I20V	I	+	1	0	GALNTL6	172972364	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.496000	0.66918	2.170000	0.68504	0.460000	0.39030	ATT		0.478	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845	
STOX2	56977	broad.mit.edu	37	4	184930674	184930674	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:184930674C>T	ENST00000308497.4	+	3	2118	c.683C>T	c.(682-684)cCc>cTc	p.P228L	STOX2_ENST00000438269.1_Missense_Mutation_p.P228L	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	228					embryo development (GO:0009790)|maternal placenta development (GO:0001893)			p.P228L(1)		breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CCTTACTGTCCCCCTTCTCTG	0.488																																					p.P228L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C683T	4						.						44.0	46.0	46.0					4																	184930674		1995	4174	6169	185167668	SO:0001583	missense	56977	exon3			AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.683C>T	4.37:g.184930674C>T	ENSP00000311257:p.Pro228Leu		185167668	NM_020225	A6H8U4|Q9NPS8	Missense_Mutation	SNP	ENST00000308497.4	37	CCDS47167.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529396	0.64860	.	.	ENSG00000173320	ENST00000308497;ENST00000438269	T;T	0.77877	-0.14;-1.13	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.67776	0.2929	N	0.20685	0.6	0.80722	D	1	P	0.34864	0.473	B	0.31442	0.13	T	0.66308	-0.5956	10	0.41790	T	0.15	-18.9152	20.6634	0.99662	0.0:1.0:0.0:0.0	.	228	Q9P2F5	STOX2_HUMAN	L	228	ENSP00000311257:P228L;ENSP00000390127:P228L	ENSP00000311257:P228L	P	+	2	0	STOX2	185167668	1.000000	0.71417	0.978000	0.43139	0.967000	0.64934	5.999000	0.70665	2.894000	0.99253	0.655000	0.94253	CCC		0.488	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225	
HELT	391723	broad.mit.edu	37	4	185941546	185941546	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:185941546C>T	ENST00000515777.1	+	4	437	c.349C>T	c.(349-351)Cgc>Tgc	p.R117C	HELT_ENST00000505610.1_Missense_Mutation_p.R116C|HELT_ENST00000338875.4_Missense_Mutation_p.R202C			A6NFD8	HELT_HUMAN	helt bHLH transcription factor	117	Orange. {ECO:0000255|PROSITE- ProRule:PRU00380}.				central nervous system development (GO:0007417)|GABAergic neuron differentiation in basal ganglia (GO:0021858)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R202C(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GAAGTACGCGCGCATCCTCGC	0.617																																					p.R202C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C604T	4						.						88.0	96.0	93.0					4																	185941546		2203	4300	6503	186178540	SO:0001583	missense	391723	exon4			BC144567	CCDS75214.1, CCDS75215.1	4q35.1	2014-07-17	2011-09-12		ENSG00000187821	ENSG00000187821		"""Basic helix-loop-helix proteins"""	33783	protein-coding gene	gene with protein product	"""megane bHLH factor"", ""HES-like"""		"""Hey-like transcription factor (zebrafish)"", ""HES/HEY-like transcription factor"""			14764602, 17611227	Standard	XM_005262989		Approved	HESL, HCM1228, Mgn, bHLHb44, MEGANE	uc011ckq.2	A6NFD8	OTTHUMG00000160484	ENST00000515777.1:c.349C>T	4.37:g.185941546C>T	ENSP00000426033:p.Arg117Cys		186178540	NM_001029887	B2RTS5|B7ZMI7|B7ZMI8	Missense_Mutation	SNP	ENST00000515777.1	37		.	.	.	.	.	.	.	.	.	.	C	26.3	4.724381	0.89298	.	.	ENSG00000187821	ENST00000505610;ENST00000515777;ENST00000338875	T;T;T	0.60171	0.21;0.21;0.21	4.96	4.96	0.65561	Orange (2);	0.000000	0.85682	D	0.000000	T	0.60314	0.2259	N	0.08118	0	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.997	T	0.71334	-0.4624	10	0.87932	D	0	-8.5298	18.2103	0.89868	0.0:1.0:0.0:0.0	.	202;117;116	A6NFD8;B7ZMI7;A6NFD8-2	HELT_HUMAN;.;.	C	116;117;202	ENSP00000422140:R116C;ENSP00000426033:R117C;ENSP00000343464:R202C	ENSP00000343464:R202C	R	+	1	0	HELT	186178540	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.885000	0.56182	2.295000	0.77249	0.561000	0.74099	CGC		0.617	HELT-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000360792.1	NM_001300781	
F11	2160	broad.mit.edu	37	4	187201514	187201514	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:187201514G>A	ENST00000403665.2	+	9	1355	c.1003G>A	c.(1003-1005)Gcc>Acc	p.A335T	F11_ENST00000264692.4_Missense_Mutation_p.A283T	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	335	Apple 4. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)	p.A335T(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	CTATACCCCAGCCCAAGCATC	0.498																																					p.A335T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1003A	4						.						111.0	109.0	110.0					4																	187201514		2203	4300	6503	187438508	SO:0001583	missense	2160	exon9			M13142	CCDS3847.1	4q35	2008-08-01	2008-08-01		ENSG00000088926	ENSG00000088926	3.4.21.27		3529	protein-coding gene	gene with protein product	"""plasma thromboplastin antecedent"""	264900					Standard	NM_000128		Approved	FXI	uc003iza.1	P03951	OTTHUMG00000150311	ENST00000403665.2:c.1003G>A	4.37:g.187201514G>A	ENSP00000384957:p.Ala335Thr		187438508	NM_000128	D3DP64|Q4W5C2|Q9Y495	Missense_Mutation	SNP	ENST00000403665.2	37	CCDS3847.1	.	.	.	.	.	.	.	.	.	.	G	0.086	-1.175504	0.01646	.	.	ENSG00000088926	ENST00000403665;ENST00000264692	D;D	0.82984	-1.67;-1.67	5.59	-11.2	0.00127	Apple domain (2);PAN-1 domain (1);Apple-like (1);	1.101630	0.06746	N	0.779172	T	0.60051	0.2239	N	0.19112	0.55	0.09310	N	1	B	0.24920	0.114	B	0.17979	0.02	T	0.39333	-0.9619	10	0.10111	T	0.7	.	6.8045	0.23770	0.1413:0.5143:0.1929:0.1515	.	335	P03951	FA11_HUMAN	T	335;283	ENSP00000384957:A335T;ENSP00000264692:A283T	ENSP00000264692:A283T	A	+	1	0	F11	187438508	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.717000	0.01876	-3.234000	0.00208	-0.976000	0.02587	GCC		0.498	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317519.4		
EVC	2121	broad.mit.edu	37	4	5812120	5812120	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:5812120T>C	ENST00000264956.6	+	20	3021	c.2837T>C	c.(2836-2838)cTg>cCg	p.L946P	EVC_ENST00000382674.2_Missense_Mutation_p.L946P	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	946					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L946P(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				AGAGGGGACCTGGGGGTGCCC	0.587																																					p.L946P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2837C	4						.						40.0	45.0	43.0					4																	5812120		2203	4300	6503	5863021	SO:0001583	missense	2121	exon20			AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.2837T>C	4.37:g.5812120T>C	ENSP00000264956:p.Leu946Pro		5863021	NM_153717		Missense_Mutation	SNP	ENST00000264956.6	37	CCDS3383.1	.	.	.	.	.	.	.	.	.	.	T	1.483	-0.556804	0.03967	.	.	ENSG00000072840	ENST00000264956;ENST00000382674	T;T	0.54071	0.59;0.59	4.77	0.988	0.19796	.	1.061420	0.07360	N	0.883963	T	0.32133	0.0819	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20505	-1.0273	10	0.28530	T	0.3	.	6.7318	0.23387	0.0:0.5587:0.0:0.4413	.	946	P57679	EVC_HUMAN	P	946	ENSP00000264956:L946P;ENSP00000372120:L946P	ENSP00000264956:L946P	L	+	2	0	EVC	5863021	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.276000	0.08514	-0.148000	0.11234	-0.375000	0.07067	CTG		0.587	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1		
GBA3	57733	broad.mit.edu	37	4	22749193	22749193	+	RNA	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:22749193G>A	ENST00000503442.1	+	0	377				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.2_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)	p.G187G(1)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CTCACTTTGGGACTGGAGGTT	0.433																																					p.G187G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G561A	4						.						161.0	159.0	159.0					4																	22749193		1887	4110	5997	22358291			57733	exon3			AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22749193G>A			22358291	NM_020973	Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	Silent	SNP	ENST00000503442.1	37																																																																																					0.433	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2		
PPARGC1A	10891	broad.mit.edu	37	4	23815983	23815983	+	Missense_Mutation	SNP	G	G	A	rs199772441		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:23815983G>A	ENST00000264867.2	-	8	1242	c.1123C>T	c.(1123-1125)Cgg>Tgg	p.R375W	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	375	Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.R375W(1)		central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				AGACTGGGCCGCTTGGTCTTC	0.478													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17543	0.0		0.0	False		,,,				2504	0.0				p.R375W	Esophageal Squamous(29;694 744 13796 34866 44181)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1123T	4						.						80.0	86.0	84.0					4																	23815983		2203	4300	6503	23425081	SO:0001583	missense	10891	exon8			AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.1123C>T	4.37:g.23815983G>A	ENSP00000264867:p.Arg375Trp		23425081	NM_013261	B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	ENST00000264867.2	37	CCDS3429.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	18.13	3.555818	0.65425	.	.	ENSG00000109819	ENST00000264867	T	0.45276	0.9	6.16	4.39	0.52855	.	0.051310	0.85682	D	0.000000	T	0.66528	0.2798	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.72507	-0.4272	10	0.87932	D	0	-7.0295	15.4433	0.75204	0.0:0.0:0.7295:0.2705	.	375	Q9UBK2	PRGC1_HUMAN	W	375	ENSP00000264867:R375W	ENSP00000264867:R375W	R	-	1	2	PPARGC1A	23425081	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	5.106000	0.64597	0.862000	0.35528	-0.188000	0.12872	CGG		0.478	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261	
SLC34A2	10568	broad.mit.edu	37	4	25678217	25678217	+	Missense_Mutation	SNP	G	G	A	rs374537882		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:25678217G>A	ENST00000382051.3	+	13	1969	c.1919G>A	c.(1918-1920)cGc>cAc	p.R640H	SLC34A2_ENST00000503434.1_Missense_Mutation_p.R639H|SLC34A2_ENST00000504570.1_Missense_Mutation_p.R639H	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	640	Cys-rich.				aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)	p.R640H(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				aagtgctgccgctgcagcaag	0.612			T	ROS1	NSCLC																																p.R639H			Dom	yes		4	4p15.2	10568	"""solute carrier family 34 (sodium phosphate), member 2"""		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1916A	4						.	G	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	30.0	33.0	32.0		1916,1916,1919	3.4	1.0	4		32	0,8600		0,0,4300	no	missense,missense,missense	SLC34A2	NM_001177998.1,NM_001177999.1,NM_006424.2	29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	639/690,639/690,640/691	25678217	1,13005	2203	4300	6503	25287315	SO:0001583	missense	10568	exon13			AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1919G>A	4.37:g.25678217G>A	ENSP00000371483:p.Arg640His		25287315	NM_001177999	A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	37	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.621665	0.28889	2.27E-4	0.0	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	T;T;T	0.25749	1.78;1.78;1.78	5.12	3.36	0.38483	.	0.658133	0.16041	N	0.232406	T	0.21427	0.0516	M	0.64997	1.995	0.26958	N	0.965873	P;B	0.36249	0.545;0.41	B;B	0.24974	0.057;0.026	T	0.20075	-1.0286	10	0.66056	D	0.02	-8.5654	7.5222	0.27635	0.2726:0.0:0.7274:0.0	.	639;640	O95436-2;O95436	.;NPT2B_HUMAN	H	639;640;639	ENSP00000425501:R639H;ENSP00000371483:R640H;ENSP00000423021:R639H	ENSP00000371483:R640H	R	+	2	0	SLC34A2	25287315	0.946000	0.32159	1.000000	0.80357	0.531000	0.34715	0.456000	0.21859	1.155000	0.42497	0.484000	0.47621	CGC		0.612	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424	
RFC1	5981	broad.mit.edu	37	4	39310364	39310364	+	Missense_Mutation	SNP	T	T	C	rs139096199		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:39310364T>C	ENST00000381897.1	-	13	1910	c.1777A>G	c.(1777-1779)Acc>Gcc	p.T593A	RFC1_ENST00000349703.2_Missense_Mutation_p.T593A	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	593					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)	p.T593A(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TTGAGCGAGGTTGGCTTATAT	0.473													T|||	1	0.000199681	0.0	0.0	5008	,	,		18476	0.001		0.0	False		,,,				2504	0.0				p.T593A	Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1777G	4						.						196.0	205.0	202.0					4																	39310364		2203	4300	6503	38986759	SO:0001583	missense	5981	exon13			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.1777A>G	4.37:g.39310364T>C	ENSP00000371321:p.Thr593Ala		38986759	NM_002913	A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	CCDS56329.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	12.85	2.060738	0.36373	.	.	ENSG00000035928	ENST00000381897;ENST00000349703	T;T	0.17213	2.29;2.29	5.79	0.127	0.14727	.	0.609575	0.18439	N	0.141198	T	0.11665	0.0284	L	0.46670	1.46	0.23528	N	0.99749	B;B	0.06786	0.0;0.001	B;B	0.10450	0.002;0.005	T	0.23655	-1.0182	10	0.44086	T	0.13	1.0E-4	1.7626	0.02995	0.2191:0.1317:0.1136:0.5356	.	593;593	P35251;P35251-2	RFC1_HUMAN;.	A	593	ENSP00000371321:T593A;ENSP00000261424:T593A	ENSP00000261424:T593A	T	-	1	0	RFC1	38986759	0.990000	0.36364	0.910000	0.35882	0.945000	0.59286	1.367000	0.34204	-0.159000	0.11021	0.460000	0.39030	ACC		0.473	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913	
RPL9	6133	broad.mit.edu	37	4	39462464	39462464	+	5'Flank	DEL	A	A	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:39462464delA	ENST00000449470.2	-	0	0				LIAS_ENST00000515061.1_3'UTR|LIAS_ENST00000261434.3_Frame_Shift_Del_p.K36fs|LIAS_ENST00000340169.2_Frame_Shift_Del_p.K36fs|LIAS_ENST00000513731.1_Frame_Shift_Del_p.K36fs|LIAS_ENST00000381846.1_Frame_Shift_Del_p.K36fs|RPL9_ENST00000295955.9_5'Flank	NM_001024921.2	NP_001020092.1	P32969	RL9_HUMAN	ribosomal protein L9						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)	RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.K36fs*31(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1)	8						CTTGCCAGATAAAAAAAAGGA	0.393																																					p.K34fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.100delA	4						.						107.0	120.0	115.0					4																	39462464		2203	4300	6503	39138859	SO:0001631	upstream_gene_variant	11019	exon2			D14531	CCDS3452.1	4p13	2011-04-06			ENSG00000163682	ENSG00000163682		"""L ribosomal proteins"""	10369	protein-coding gene	gene with protein product		603686				8597601, 8415001	Standard	XM_005262661		Approved	L9	uc021sso.1	P32969	OTTHUMG00000099367		4.37:g.39462464delA	Exception_encountered		39138859	NM_194451		Frame_Shift_Del	DEL	ENST00000449470.2	37	CCDS3452.1																																																																																				0.393	RPL9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361018.1		
PDS5A	23244	broad.mit.edu	37	4	39929664	39929664	+	Missense_Mutation	SNP	G	G	A	rs201833974		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:39929664G>A	ENST00000303538.8	-	3	798	c.259C>T	c.(259-261)Cgt>Tgt	p.R87C	PDS5A_ENST00000503396.1_Missense_Mutation_p.R87C	NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)									p.R87C(1)		breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						ACAAGGAGACGCACATCTTTA	0.418																																					p.R87C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C259T	4						.						108.0	99.0	102.0					4																	39929664		1906	4127	6033	39606059	SO:0001583	missense	23244	exon3			AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.259C>T	4.37:g.39929664G>A	ENSP00000303427:p.Arg87Cys		39606059	NM_001100399		Missense_Mutation	SNP	ENST00000303538.8	37	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475380	0.84640	.	.	ENSG00000121892	ENST00000303538;ENST00000503396	T;T	0.76060	-0.89;-0.99	5.66	5.66	0.87406	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85695	0.5756	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.84440	0.0582	9	.	.	.	-10.3206	19.7578	0.96301	0.0:0.0:1.0:0.0	.	87;87	Q29RF7-3;Q29RF7	.;PDS5A_HUMAN	C	87	ENSP00000303427:R87C;ENSP00000426749:R87C	.	R	-	1	0	PDS5A	39606059	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.580000	0.74040	2.657000	0.90304	0.655000	0.94253	CGT		0.418	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200	
DCAF4L1	285429	broad.mit.edu	37	4	41984375	41984375	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:41984375C>T	ENST00000333141.5	+	1	663	c.566C>T	c.(565-567)gCg>gTg	p.A189V		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	189								p.A189V(2)		breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						TGGTCCTGTGCGTGGTCCCTC	0.572																																					p.A189V												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C566T	4						.						111.0	105.0	107.0					4																	41984375		2203	4300	6503	41679132	SO:0001583	missense	285429	exon1			BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"""WD repeat domain containing"""	27723	protein-coding gene	gene with protein product			"""WD repeat domain 21B"""	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.566C>T	4.37:g.41984375C>T	ENSP00000327796:p.Ala189Val		41679132	NM_001029955	B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Missense_Mutation	SNP	ENST00000333141.5	37	CCDS33978.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.360381	0.61403	.	.	ENSG00000182308	ENST00000333141	T	0.72615	-0.67	0.688	0.688	0.18027	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.094457	0.64402	D	0.000001	T	0.75525	0.3861	M	0.70275	2.135	0.43667	D	0.996093	D	0.67145	0.996	P	0.59703	0.862	T	0.73920	-0.3830	10	0.54805	T	0.06	.	7.1245	0.25463	0.0:0.9999:0.0:1.0E-4	.	189	Q3SXM0	DC4L1_HUMAN	V	189	ENSP00000327796:A189V	ENSP00000327796:A189V	A	+	2	0	DCAF4L1	41679132	1.000000	0.71417	0.921000	0.36526	0.210000	0.24377	4.756000	0.62205	0.635000	0.30488	0.313000	0.20887	GCG		0.572	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360958.1	NM_001029955	
GABRG1	2565	broad.mit.edu	37	4	46060358	46060358	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:46060358delA	ENST00000295452.4	-	7	959	c.792delT	c.(790-792)tttfs	p.F264fs		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	264					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.F264fs*3(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGCTCAGGTCAAAAAAAATTG	0.294																																					p.F264fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.792delT	4						.						94.0	97.0	96.0					4																	46060358		2203	4300	6503	45755115	SO:0001589	frameshift_variant	2565	exon7			BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.792delT	4.37:g.46060358delA	ENSP00000295452:p.Phe264fs		45755115	NM_173536	Q5H9T8	Frame_Shift_Del	DEL	ENST00000295452.4	37	CCDS3470.1																																																																																				0.294	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536	
GABRA2	2555	broad.mit.edu	37	4	46252446	46252446	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:46252446T>C	ENST00000510861.1	-	10	1408	c.1235A>G	c.(1234-1236)aAc>aGc	p.N412S	GABRA2_ENST00000514090.1_Missense_Mutation_p.N412S|GABRA2_ENST00000540012.1_Missense_Mutation_p.N417S|GABRA2_ENST00000381620.4_Missense_Mutation_p.N412S|GABRA2_ENST00000507069.1_Missense_Mutation_p.N472S|GABRA2_ENST00000356504.1_Missense_Mutation_p.N412S			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	412					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.N412S(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	GCTAACACTGTTGAAAGTTTT	0.393																																					p.N412S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1235G	4						.						195.0	198.0	197.0					4																	46252446		2203	4299	6502	45947203	SO:0001583	missense	2555	exon10				CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.1235A>G	4.37:g.46252446T>C	ENSP00000421828:p.Asn412Ser		45947203	NM_000807	A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	T	15.83	2.949440	0.53186	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069	D;D;D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93;-1.93;-1.93	5.96	5.96	0.96718	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.86075	0.5846	N	0.25992	0.78	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.87578	0.996;0.998	T	0.81629	-0.0846	10	0.08599	T	0.76	.	15.6192	0.76793	0.0:0.0:0.0:1.0	.	417;412	B7Z1H8;P47869	.;GBRA2_HUMAN	S	412;412;412;412;417;472	ENSP00000421828:N412S;ENSP00000421300:N412S;ENSP00000371033:N412S;ENSP00000348897:N412S;ENSP00000444409:N417S;ENSP00000427603:N472S	ENSP00000348897:N412S	N	-	2	0	GABRA2	45947203	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.040000	0.89188	2.280000	0.76307	0.533000	0.62120	AAC		0.393	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2		
GABRB1	2560	broad.mit.edu	37	4	47427892	47427892	+	Missense_Mutation	SNP	C	C	T	rs78133797		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:47427892C>T	ENST00000295454.3	+	9	1574	c.1282C>T	c.(1282-1284)Cgc>Tgc	p.R428C	GABRB1_ENST00000538619.1_Missense_Mutation_p.R358C	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	428					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)	p.R428C(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CAGCAAGGGGCGCATCCGCAG	0.612																																					p.R428C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1282T	4						.						59.0	61.0	61.0					4																	47427892		2203	4300	6503	47122649	SO:0001583	missense	2560	exon9				CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.1282C>T	4.37:g.47427892C>T	ENSP00000295454:p.Arg428Cys		47122649	NM_000812	B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.119692	0.56613	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	D;D	0.85955	-2.05;-2.05	5.38	5.38	0.77491	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.204155	0.42964	D	0.000629	D	0.92616	0.7654	M	0.80332	2.49	0.80722	D	1	B;D	0.89917	0.03;1.0	B;D	0.69307	0.033;0.963	D	0.92958	0.6386	10	0.72032	D	0.01	-13.1334	19.3205	0.94236	0.0:1.0:0.0:0.0	.	358;428	F5GXV5;P18505	.;GBRB1_HUMAN	C	428;358	ENSP00000295454:R428C;ENSP00000440330:R358C	ENSP00000295454:R428C	R	+	1	0	GABRB1	47122649	1.000000	0.71417	0.994000	0.49952	0.806000	0.45545	4.662000	0.61525	2.803000	0.96430	0.650000	0.86243	CGC		0.612	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1		
ATP10D	57205	broad.mit.edu	37	4	47537967	47537967	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:47537967G>A	ENST00000273859.3	+	7	1201	c.932G>A	c.(931-933)cGc>cAc	p.R311H	ATP10D_ENST00000504445.1_Missense_Mutation_p.R311H	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	311					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R311H(2)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CGGTATAAGCGCAGCAAATTA	0.418																																					p.R311H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G932A	4						.						114.0	103.0	107.0					4																	47537967		2203	4300	6503	47232724	SO:0001583	missense	57205	exon7			AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.932G>A	4.37:g.47537967G>A	ENSP00000273859:p.Arg311His		47232724	NM_020453	A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763571	0.89932	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	D;D	0.91686	-2.89;-2.89	5.31	5.31	0.75309	ATPase, P-type, ATPase-associated domain (1);	0.059827	0.64402	D	0.000002	D	0.97074	0.9044	M	0.93283	3.4	0.58432	D	0.999997	D;D	0.76494	0.999;0.998	D;D	0.70487	0.969;0.969	D	0.97421	1.0009	10	0.54805	T	0.06	-16.3315	18.3416	0.90307	0.0:0.0:1.0:0.0	.	311;311	Q9P241;Q6PEW3	AT10D_HUMAN;.	H	311	ENSP00000273859:R311H;ENSP00000420909:R311H	ENSP00000273859:R311H	R	+	2	0	ATP10D	47232724	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	6.721000	0.74728	2.635000	0.89317	0.563000	0.77884	CGC		0.418	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453	
CORIN	10699	broad.mit.edu	37	4	47788926	47788926	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:47788926G>A	ENST00000273857.4	-	3	224	c.225C>T	c.(223-225)gtC>gtT	p.V75V	CORIN_ENST00000505909.1_Silent_p.V75V|CORIN_ENST00000508498.1_5'UTR|CORIN_ENST00000504584.1_Silent_p.V75V|CORIN_ENST00000502252.1_Intron	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	75					female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.V75V(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						ATTTAAAATAGACCTTTTGTA	0.313																																					p.V75V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C225T	4						.						51.0	49.0	50.0					4																	47788926		2203	4300	6503	47483683	SO:0001819	synonymous_variant	10699	exon3			AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.225C>T	4.37:g.47788926G>A			47483683	NM_006587	B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Silent	SNP	ENST00000273857.4	37	CCDS3477.1																																																																																				0.313	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2		
CNGA1	1259	broad.mit.edu	37	4	47938928	47938928	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:47938928G>T	ENST00000514170.1	-	11	1902	c.1583C>A	c.(1582-1584)gCa>gAa	p.A528E	CNGA1_ENST00000420489.2_Missense_Mutation_p.A528E|CNGA1_ENST00000358519.4_Missense_Mutation_p.A528E|CNGA1_ENST00000402813.3_Missense_Mutation_p.A597E|CNGA1_ENST00000544810.1_Missense_Mutation_p.A528E			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	528					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.A528E(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TCCATCATCTGCCACCACAGC	0.458																																					p.A528E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1583A	4						.						110.0	111.0	111.0					4																	47938928		2196	4300	6496	47633685	SO:0001583	missense	1259	exon11			M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.1583C>A	4.37:g.47938928G>T	ENSP00000426862:p.Ala528Glu		47633685	NM_000087	A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Missense_Mutation	SNP	ENST00000514170.1	37	CCDS43226.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.287039	0.80803	.	.	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489	D;D;D;D;D	0.92397	-3.03;-3.03;-3.03;-3.03;-3.03	4.92	4.92	0.64577	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.93106	0.7805	L	0.51422	1.61	0.80722	D	1	P;P	0.47962	0.903;0.903	P;P	0.52031	0.688;0.688	D	0.93806	0.7105	10	0.66056	D	0.02	.	18.5037	0.90890	0.0:0.0:1.0:0.0	.	528;528	Q4W5E3;P29973	.;CNGA1_HUMAN	E	597;528;528;528;528	ENSP00000384264:A597E;ENSP00000426862:A528E;ENSP00000443401:A528E;ENSP00000351320:A528E;ENSP00000389881:A528E	ENSP00000351320:A528E	A	-	2	0	CNGA1	47633685	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.420000	0.97426	2.433000	0.82419	0.491000	0.48974	GCA		0.458	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087	
CNGA1	1259	broad.mit.edu	37	4	47954625	47954625	+	Nonsense_Mutation	SNP	G	G	A	rs199636364	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:47954625G>A	ENST00000514170.1	-	4	413	c.94C>T	c.(94-96)Cga>Tga	p.R32*	CNGA1_ENST00000420489.2_Nonsense_Mutation_p.R32*|CNGA1_ENST00000358519.4_Nonsense_Mutation_p.R32*|CNGA1_ENST00000402813.3_Nonsense_Mutation_p.R101*|CNGA1_ENST00000544810.1_Nonsense_Mutation_p.R32*			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	32			R -> Q (in dbSNP:rs76537883). {ECO:0000269|PubMed:7479749}.		phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.R32*(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TCCATCCTTCGTATTTCCTTT	0.313													G|||	2	0.000399361	0.0008	0.0	5008	,	,		12609	0.0		0.001	False		,,,				2504	0.0				p.R32X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C94T	4	GRCh37	CM023350	CNGA1	M		.	G	stop/ARG,stop/ARG	0,3674		0,0,1837	143.0	130.0	134.0		94,301	1.4	1.0	4		134	1,8163		0,1,4081	no	stop-gained,stop-gained	CNGA1	NM_000087.3,NM_001142564.1	,	0,1,5918	AA,AG,GG		0.0122,0.0,0.0084	,	32/691,101/760	47954625	1,11837	1837	4082	5919	47649382	SO:0001587	stop_gained	1259	exon4			M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.94C>T	4.37:g.47954625G>A	ENSP00000426862:p.Arg32*		47649382	NM_000087	A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Nonsense_Mutation	SNP	ENST00000514170.1	37	CCDS43226.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	21.9	4.222840	0.79464	0.0	1.22E-4	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489;ENST00000504722;ENST00000514520;ENST00000513178	.	.	.	5.2	1.36	0.22044	.	1.415800	0.04382	N	0.361038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	7.2294	0.26034	0.0:0.0813:0.481:0.4377	.	.	.	.	X	101;32;32;32;32;32;32;32	.	ENSP00000351320:R32X	R	-	1	2	CNGA1	47649382	0.998000	0.40836	0.994000	0.49952	0.669000	0.39330	0.478000	0.22212	0.157000	0.19338	-1.610000	0.00802	CGA		0.313	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087	
TMEM165	55858	broad.mit.edu	37	4	56277994	56277994	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:56277994A>G	ENST00000381334.5	+	2	654	c.421A>G	c.(421-423)Aca>Gca	p.T141A	TMEM165_ENST00000506198.1_Intron|TMEM165_ENST00000542052.1_Missense_Mutation_p.T78A|Y_RNA_ENST00000459077.1_RNA	NM_018475.4	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	141					cellular calcium ion homeostasis (GO:0006874)|Golgi calcium ion transport (GO:0032472)|protein N-linked glycosylation (GO:0006487)|regulation of lysosomal lumen pH (GO:0035751)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)		p.T141A(1)		endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			GGGACTAATGACATGCTTGTC	0.468																																					p.T141A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A421G	4						.						113.0	86.0	95.0					4																	56277994		2203	4300	6503	55972751	SO:0001583	missense	55858	exon2			AF183409	CCDS3499.1	4q12	2014-03-13			ENSG00000134851	ENSG00000134851			30760	protein-coding gene	gene with protein product	"""TPA regulated locus"""	614726				3202867, 22683087, 23575229	Standard	NM_018475		Approved	TMPT27, TPARL, GDT1	uc003hax.3	Q9HC07	OTTHUMG00000128735	ENST00000381334.5:c.421A>G	4.37:g.56277994A>G	ENSP00000370736:p.Thr141Ala		55972751	NM_018475	A8K3P8|B4DHW1|Q9BTN9|Q9NZ34	Missense_Mutation	SNP	ENST00000381334.5	37	CCDS3499.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.747372	0.89663	.	.	ENSG00000134851	ENST00000381334;ENST00000542052	D;D	0.83335	-1.71;-1.71	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.92731	0.7689	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.94196	0.7445	10	0.72032	D	0.01	-22.0072	15.3887	0.74726	1.0:0.0:0.0:0.0	.	78;141	B4DHW1;Q9HC07	.;TM165_HUMAN	A	141;78	ENSP00000370736:T141A;ENSP00000437816:T78A	ENSP00000370736:T141A	T	+	1	0	TMEM165	55972751	1.000000	0.71417	0.997000	0.53966	0.920000	0.55202	8.722000	0.91452	2.211000	0.71520	0.533000	0.62120	ACA		0.468	TMEM165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250646.4	NM_018475	
AASDH	132949	broad.mit.edu	37	4	57219751	57219751	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:57219751C>T	ENST00000205214.6	-	9	1575	c.1395G>A	c.(1393-1395)gaG>gaA	p.E465E	AASDH_ENST00000434343.2_5'UTR|AASDH_ENST00000451613.1_Silent_p.E465E|AASDH_ENST00000502617.1_Silent_p.E465E|AASDH_ENST00000510762.1_5'Flank|AASDH_ENST00000602986.1_Silent_p.E312E|AASDH_ENST00000513376.1_Silent_p.E365E	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	465					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)	p.E465E(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				CTTGCTGAAGCTCTTCAGCAA	0.323																																					p.E465E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1395A	4						.						54.0	59.0	57.0					4																	57219751		2203	4300	6503	56914508	SO:0001819	synonymous_variant	132949	exon9			AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.1395G>A	4.37:g.57219751C>T			56914508	NM_181806	A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Silent	SNP	ENST00000205214.6	37	CCDS3504.1																																																																																				0.323	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806	
LPHN3	23284	broad.mit.edu	37	4	62758665	62758665	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:62758665C>T	ENST00000514591.1	+	9	1897	c.1568C>T	c.(1567-1569)gCa>gTa	p.A523V	LPHN3_ENST00000508946.1_Missense_Mutation_p.A523V|LPHN3_ENST00000514996.1_Missense_Mutation_p.A523V|LPHN3_ENST00000506746.1_Missense_Mutation_p.A591V|LPHN3_ENST00000509896.1_Missense_Mutation_p.A591V|LPHN3_ENST00000511324.1_Missense_Mutation_p.A591V|LPHN3_ENST00000506700.1_Missense_Mutation_p.A523V|LPHN3_ENST00000507164.1_Missense_Mutation_p.A591V|LPHN3_ENST00000514157.1_Missense_Mutation_p.A523V|LPHN3_ENST00000508693.1_Missense_Mutation_p.A591V|LPHN3_ENST00000506720.1_Missense_Mutation_p.A591V|LPHN3_ENST00000512091.2_Missense_Mutation_p.A523V|LPHN3_ENST00000504896.1_Missense_Mutation_p.A523V|LPHN3_ENST00000507625.1_Missense_Mutation_p.A591V|LPHN3_ENST00000545650.1_Missense_Mutation_p.A523V			Q9HAR2	LPHN3_HUMAN	latrophilin 3	523					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.A523V(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CCATGCCCTGCAGGAACTATA	0.443																																					p.A523V												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C1568T	4						.						32.0	33.0	33.0					4																	62758665		1983	4162	6145	62441260	SO:0001583	missense	23284	exon7			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1568C>T	4.37:g.62758665C>T	ENSP00000422533:p.Ala523Val		62441260	NM_015236	E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515710	0.44763	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	5.83	4.99	0.66335	.	0.589559	0.17639	N	0.167090	T	0.37461	0.1004	N	0.08118	0	0.27108	N	0.962441	B;B	0.09022	0.001;0.002	B;B	0.06405	0.002;0.001	T	0.07177	-1.0786	10	0.45353	T	0.12	.	5.1784	0.15146	0.1838:0.6766:0.0:0.1396	.	523;523	E9PE04;Q9HAR2-2	.;.	V	523;523;591;591;523;523;523;523;523;591;591;591;523;523;523;591;591;523	ENSP00000423388:A523V;ENSP00000422533:A523V;ENSP00000423787:A591V;ENSP00000425033:A591V;ENSP00000424120:A523V;ENSP00000439831:A523V;ENSP00000421476:A591V;ENSP00000424030:A591V;ENSP00000421372:A591V;ENSP00000425201:A523V;ENSP00000423434:A523V;ENSP00000421627:A523V;ENSP00000420931:A591V;ENSP00000425884:A591V;ENSP00000424258:A523V	ENSP00000280009:A523V	A	+	2	0	LPHN3	62441260	0.001000	0.12720	0.998000	0.56505	0.992000	0.81027	0.737000	0.26144	2.763000	0.94921	0.563000	0.77884	GCA		0.443	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1		
CENPC	1060	broad.mit.edu	37	4	68378253	68378253	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:68378253T>A	ENST00000273853.6	-	9	1729	c.1479A>T	c.(1477-1479)gaA>gaT	p.E493D		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	493					chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)	p.E493D(1)									TTTTAGATTCTTCCTTATCTT	0.358																																					p.E493D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1479T	4						.						87.0	74.0	78.0					4																	68378253		1803	4071	5874	68060848	SO:0001583	missense	1060	exon9			M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"""centromere protein C 1"""	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.1479A>T	4.37:g.68378253T>A	ENSP00000273853:p.Glu493Asp		68060848	NM_001812	Q8IW27|Q9P0M5	Missense_Mutation	SNP	ENST00000273853.6	37	CCDS47063.1	.	.	.	.	.	.	.	.	.	.	T	8.300	0.819812	0.16678	.	.	ENSG00000145241	ENST00000273853	.	.	.	4.82	-0.487	0.12060	.	0.607514	0.15273	N	0.271081	T	0.24314	0.0589	N	0.24115	0.695	0.09310	N	1	B;B	0.16166	0.016;0.016	B;B	0.18263	0.021;0.021	T	0.18053	-1.0349	9	0.27082	T	0.32	-1.8957	7.8174	0.29267	0.0:0.3242:0.0:0.6758	.	493;493	Q8IW27;Q03188	.;CENPC_HUMAN	D	493	.	ENSP00000273853:E493D	E	-	3	2	CENPC1	68060848	0.011000	0.17503	0.000000	0.03702	0.008000	0.06430	1.081000	0.30791	-0.138000	0.11434	-0.326000	0.08463	GAA		0.358	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362001.2		
GNRHR	2798	broad.mit.edu	37	4	68619588	68619588	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:68619588C>T	ENST00000226413.4	-	1	490	c.466G>A	c.(466-468)Gga>Aga	p.G156R	UBA6-AS1_ENST00000500538.2_RNA|GNRHR_ENST00000420975.2_Missense_Mutation_p.G156R|UBA6-AS1_ENST00000502758.1_RNA	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	156					cellular response to gonadotropin-releasing hormone (GO:0097211)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gonadotropin-releasing hormone receptor activity (GO:0004968)	p.G156R(1)		endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Buserelin(DB06719)|Cetrorelix(DB00050)|Danazol(DB01406)|Degarelix(DB06699)|Gonadorelin(DB00644)|Goserelin(DB00014)|Leuprolide(DB00007)|Nafarelin(DB00666)	ATGGACTGTCCGACTTTGCTG	0.502																																					p.G156R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G466A	4						.						61.0	58.0	59.0					4																	68619588		2203	4300	6503	68302183	SO:0001583	missense	2798	exon1				CCDS3517.1, CCDS47064.1	4q21.2	2012-08-08			ENSG00000109163	ENSG00000109163		"""GPCR / Class A : Gonadotropin-releasing hormone receptors"""	4421	protein-coding gene	gene with protein product		138850		GRHR		8386108	Standard	NM_000406		Approved	LHRHR	uc003hdn.3	P30968	OTTHUMG00000129302	ENST00000226413.4:c.466G>A	4.37:g.68619588C>T	ENSP00000226413:p.Gly156Arg		68302183	NM_000406	O75793|Q14D13|Q92644	Missense_Mutation	SNP	ENST00000226413.4	37	CCDS3517.1	.	.	.	.	.	.	.	.	.	.	C	8.542	0.873508	0.17322	.	.	ENSG00000109163	ENST00000226413;ENST00000420975	T;T	0.37584	1.19;1.19	6.02	0.197	0.15164	GPCR, rhodopsin-like superfamily (1);	0.670200	0.14345	N	0.325464	T	0.25306	0.0615	L	0.39566	1.225	0.20703	N	0.999869	B;B	0.13594	0.008;0.002	B;B	0.09377	0.003;0.004	T	0.17837	-1.0356	10	0.54805	T	0.06	1.002	5.7735	0.18267	0.0:0.4881:0.2369:0.275	.	156;156	P30968;P30968-2	GNRHR_HUMAN;.	R	156	ENSP00000226413:G156R;ENSP00000397561:G156R	ENSP00000226413:G156R	G	-	1	0	GNRHR	68302183	0.066000	0.20996	0.006000	0.13384	0.497000	0.33675	0.982000	0.29539	-0.295000	0.08960	-0.136000	0.14681	GGA		0.502	GNRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251432.2		
UGT2A3	79799	broad.mit.edu	37	4	69795692	69795692	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:69795692G>A	ENST00000251566.4	-	6	1453	c.1423C>T	c.(1423-1425)Cga>Tga	p.R475*	UGT2A3_ENST00000420231.2_Nonsense_Mutation_p.R186*	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	475					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.R475*(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCAGCTGATCGCAGGTGCTTG	0.488																																					p.R475X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1423T	4						.						86.0	85.0	85.0					4																	69795692		2203	4300	6503	69830281	SO:0001587	stop_gained	79799	exon6				CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.1423C>T	4.37:g.69795692G>A	ENSP00000251566:p.Arg475*		69830281	NM_024743	Q9H6S4	Nonsense_Mutation	SNP	ENST00000251566.4	37	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.436920	0.25900	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	.	.	.	2.22	-3.51	0.04696	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.3431	0.11119	0.1294:0.0:0.3743:0.4962	.	.	.	.	X	475;186	.	ENSP00000251566:R475X	R	-	1	2	UGT2A3	69830281	0.002000	0.14202	0.045000	0.18777	0.015000	0.08874	-0.761000	0.04751	-1.148000	0.02847	-0.339000	0.08088	CGA		0.488	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743	
MUC7	4589	broad.mit.edu	37	4	71347158	71347158	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:71347158G>T	ENST00000304887.5	+	3	887	c.697G>T	c.(697-699)Gag>Tag	p.E233*	MUC7_ENST00000456088.1_Nonsense_Mutation_p.E233*|MUC7_ENST00000413702.1_Nonsense_Mutation_p.E233*	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	233	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.E233*(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AGCTCCACCAGAGACCACAGC	0.592																																					p.E233X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G697T	4						.						381.0	317.0	338.0					4																	71347158		2203	4298	6501	71381747	SO:0001587	stop_gained	4589	exon3			BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.697G>T	4.37:g.71347158G>T	ENSP00000302021:p.Glu233*		71381747	NM_152291	Q9UCD7|Q9UCD8	Nonsense_Mutation	SNP	ENST00000304887.5	37	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759131	0.49468	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	.	.	.	1.4	0.454	0.16644	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	1.8083	7.2477	0.26131	0.0:0.2798:0.7201:0.0	.	.	.	.	X	233	.	.	E	+	1	0	MUC7	71381747	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.221000	0.09202	0.126000	0.18424	0.561000	0.74099	GAG		0.592	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291	
ENAM	10117	broad.mit.edu	37	4	71510483	71510483	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:71510483G>T	ENST00000396073.3	+	9	3621	c.3340G>T	c.(3340-3342)Gat>Tat	p.D1114Y	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	1114					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)		p.D1114Y(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AGACCCACTTGATGCAGATGA	0.418																																					p.D1114Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3340T	4						.						94.0	87.0	90.0					4																	71510483		2203	4300	6503	71729347	SO:0001583	missense	10117	exon9			AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.3340G>T	4.37:g.71510483G>T	ENSP00000379383:p.Asp1114Tyr		71729347	NM_031889	Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	G	7.544	0.661325	0.14645	.	.	ENSG00000132464	ENST00000396073	T	0.29917	1.55	5.81	0.603	0.17541	.	0.650547	0.15114	N	0.279816	T	0.28797	0.0714	N	0.22421	0.69	0.09310	N	1	D	0.57571	0.98	P	0.58721	0.844	T	0.06991	-1.0796	10	0.62326	D	0.03	-5.9557	4.092	0.09973	0.5501:0.1751:0.2749:0.0	.	1114	Q9NRM1	ENAM_HUMAN	Y	1114	ENSP00000379383:D1114Y	ENSP00000379383:D1114Y	D	+	1	0	ENAM	71729347	0.303000	0.24463	0.007000	0.13788	0.031000	0.12232	1.406000	0.34646	0.552000	0.29026	-0.793000	0.03317	GAT		0.418	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889	
DCK	1633	broad.mit.edu	37	4	71892383	71892383	+	Splice_Site	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:71892383A>G	ENST00000286648.5	+	6	1064	c.667A>G	c.(667-669)Acc>Gcc	p.T223A	DCK_ENST00000504730.1_Splice_Site_p.N184S|DCK_ENST00000504952.1_Splice_Site_p.T223A	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase	223					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxycytidine kinase activity (GO:0004137)|drug binding (GO:0008144)|nucleoside kinase activity (GO:0019206)|protein homodimerization activity (GO:0042803)	p.T223A(1)		endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Cytarabine(DB00987)|Decitabine(DB01262)|Emtricitabine(DB00879)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Lamivudine(DB00709)|Nelarabine(DB01280)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	TTTAAACAGAACCAACTTCGA	0.284																																					p.T223A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A667G	4						.						39.0	40.0	40.0					4																	71892383		2201	4287	6488	72111247	SO:0001630	splice_region_variant	1633	exon6			M60527	CCDS3548.1	4q13.3-q21.1	2008-02-05			ENSG00000156136	ENSG00000156136	2.7.1.74		2704	protein-coding gene	gene with protein product		125450				8406512	Standard	NM_000788		Approved		uc003hfx.3	P27707	OTTHUMG00000129908	ENST00000286648.5:c.666-1A>G	4.37:g.71892383A>G			72111247	NM_000788	B2R8V6|Q5TZY7|Q6FI11	Missense_Mutation	SNP	ENST00000286648.5	37	CCDS3548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.92|13.92	2.379560|2.379560	0.42207|0.42207	.|.	.|.	ENSG00000156136|ENSG00000156136	ENST00000504730|ENST00000286648;ENST00000504952	D|D;D	0.94376|0.94000	-3.41|-3.33;-3.33	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|0.094588	.|0.64402	.|D	.|0.000001	D|D	0.88764|0.88764	0.6525|0.6525	N|N	0.24115|0.24115	0.695|0.695	0.47905|0.47905	D|D	0.999546|0.999546	.|B	.|0.19445	.|0.036	.|B	.|0.26094	.|0.066	D|D	0.84731|0.84731	0.0745|0.0745	7|10	0.41790|0.30078	T|T	0.15|0.28	.|.	15.6787|15.6787	0.77349|0.77349	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|223	.|P27707	.|DCK_HUMAN	S|A	184|223	ENSP00000425578:N184S|ENSP00000286648:T223A;ENSP00000421508:T223A	ENSP00000425578:N184S|ENSP00000286648:T223A	N|T	+|+	2|1	0|0	DCK|DCK	72111247|72111247	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.771000|0.771000	0.43674|0.43674	6.916000|6.916000	0.75776|0.75776	2.119000|2.119000	0.64992|0.64992	0.482000|0.482000	0.46254|0.46254	AAC|ACC		0.284	DCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252159.2		Missense_Mutation
ADAMTS3	9508	broad.mit.edu	37	4	73176816	73176816	+	Silent	SNP	C	C	T	rs143790784	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:73176816C>T	ENST00000286657.4	-	14	2040	c.2004G>A	c.(2002-2004)acG>acA	p.T668T		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	668	Cys-rich.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T668T(3)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAGAACAGTGCGTTCCATCAT	0.433													C|||	7	0.00139776	0.0	0.0086	5008	,	,		15497	0.0		0.0	False		,,,				2504	0.001				p.T668T	NSCLC(168;1941 2048 2918 13048 43078)											.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.G2004A	4						.	C		1,4405	2.1+/-5.4	0,1,2202	236.0	182.0	200.0		2004	-11.4	0.0	4	dbSNP_134	200	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ADAMTS3	NM_014243.2		0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231		668/1206	73176816	3,13003	2203	4300	6503	73395680	SO:0001819	synonymous_variant	9508	exon14			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2004G>A	4.37:g.73176816C>T			73395680	NM_014243	A1L3U9|Q9BXZ8	Silent	SNP	ENST00000286657.4	37	CCDS3553.1																																																																																				0.433	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2		
ANKRD17	26057	broad.mit.edu	37	4	74014557	74014557	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:74014557C>A	ENST00000358602.4	-	8	1656	c.1540G>T	c.(1540-1542)Gaa>Taa	p.E514*	ANKRD17_ENST00000509867.2_Nonsense_Mutation_p.E401*|ANKRD17_ENST00000330838.6_Nonsense_Mutation_p.E514*|ANKRD17_ENST00000514252.1_5'UTR	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	514					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E514*(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCCACCATTTCTTCATGTCCT	0.373																																					p.E514X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1540T	4						.						132.0	119.0	123.0					4																	74014557		2203	4300	6503	74233421	SO:0001587	stop_gained	26057	exon8			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.1540G>T	4.37:g.74014557C>A	ENSP00000351416:p.Glu514*		74233421	NM_198889	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Nonsense_Mutation	SNP	ENST00000358602.4	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	40	7.991262	0.98599	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000411811	.	.	.	5.28	4.44	0.53790	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	15.6016	0.76628	0.1389:0.8611:0.0:0.0	.	.	.	.	X	514;514;514;401;514	.	ENSP00000332265:E514X	E	-	1	0	ANKRD17	74233421	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.776000	0.85560	1.336000	0.45506	0.591000	0.81541	GAA		0.373	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217	
FRAS1	80144	broad.mit.edu	37	4	79308686	79308686	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:79308686T>G	ENST00000325942.6	+	29	4246	c.3806T>G	c.(3805-3807)cTt>cGt	p.L1269R	FRAS1_ENST00000264895.6_Missense_Mutation_p.L1269R	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1269					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.L1269R(2)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CTTCAGACACTTCAGTCCCCG	0.483																																					p.L1269R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T3806G	4						.						67.0	69.0	68.0					4																	79308686		2004	4174	6178	79527710	SO:0001583	missense	80144	exon29			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.3806T>G	4.37:g.79308686T>G	ENSP00000326330:p.Leu1269Arg		79527710	NM_025074	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	T	1.128	-0.653136	0.03480	.	.	ENSG00000138759	ENST00000325942;ENST00000264895	T;T	0.33865	1.39;2.59	5.86	0.652	0.17823	.	0.457422	0.22641	N	0.057457	T	0.20210	0.0486	L	0.39245	1.2	0.18873	N	0.999984	B;B	0.13145	0.007;0.003	B;B	0.09377	0.004;0.003	T	0.11470	-1.0586	10	0.23302	T	0.38	.	0.6269	0.00788	0.1708:0.2884:0.1766:0.3642	.	1269;1269	E9PHH6;A2RRR8	.;.	R	1269	ENSP00000326330:L1269R;ENSP00000264895:L1269R	ENSP00000264895:L1269R	L	+	2	0	FRAS1	79527710	0.000000	0.05858	0.001000	0.08648	0.073000	0.16967	0.303000	0.19210	0.112000	0.17975	-0.468000	0.05107	CTT		0.483	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2		
FRAS1	80144	broad.mit.edu	37	4	79321944	79321944	+	Silent	SNP	G	G	A	rs371941648		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:79321944G>A	ENST00000325942.6	+	30	4472	c.4032G>A	c.(4030-4032)ggG>ggA	p.G1344G	FRAS1_ENST00000264895.6_Silent_p.G1344G	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1344					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.G1344G(2)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CAGAAGGGGGGATGCTGCAGA	0.453																																					p.G1344G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G4032A	4						.						68.0	71.0	70.0					4																	79321944		1915	4122	6037	79540968	SO:0001819	synonymous_variant	80144	exon30			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.4032G>A	4.37:g.79321944G>A			79540968	NM_025074	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000325942.6	37	CCDS54772.1																																																																																				0.453	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2		
COQ2	27235	broad.mit.edu	37	4	84200187	84200187	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:84200187G>A	ENST00000311469.4	-	2	483	c.484C>T	c.(484-486)Ctc>Ttc	p.L162F	COQ2_ENST00000311461.7_Missense_Mutation_p.L112F|COQ2_ENST00000439031.2_Missense_Mutation_p.L125F|COQ2_ENST00000514935.1_5'UTR	NM_015697.7	NP_056512.5	Q96H96	COQ2_HUMAN	coenzyme Q2 4-hydroxybenzoate polyprenyltransferase	112					cell death (GO:0008219)|glycerol metabolic process (GO:0006071)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	4-hydroxybenzoate decaprenyltransferase activity (GO:0002083)|4-hydroxybenzoate nonaprenyltransferase activity (GO:0047293)	p.L162F(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)	8		Hepatocellular(203;0.114)				AAGAGGGAGAGCATGTACCAA	0.438																																					p.L162F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C484T	4						.						59.0	56.0	57.0					4																	84200187		1977	4149	6126	84419211	SO:0001583	missense	27235	exon2				CCDS47090.1, CCDS47090.2	4q21.23	2013-05-23	2013-05-23				2.5.1.39		25223	protein-coding gene	gene with protein product	"""4-hydroxybenzoate polyprenyltransferase"""	609825	"""coenzyme Q2 homolog, prenyltransferase (yeast)"""			15153069, 17332895	Standard	NM_015697		Approved	CL640, FLJ26072	uc003hog.3	Q96H96		ENST00000311469.4:c.484C>T	4.37:g.84200187G>A	ENSP00000310873:p.Leu162Phe		84419211	NM_015697	O95331|Q1JQ78|Q684R2	Missense_Mutation	SNP	ENST00000311469.4	37	CCDS47090.2	.	.	.	.	.	.	.	.	.	.	G	18.65	3.670059	0.67814	.	.	ENSG00000173085	ENST00000311469;ENST00000439031;ENST00000311461	D;D;D	0.93811	-3.29;-3.29;-3.29	5.07	-0.00192	0.14032	.	0.000000	0.64402	D	0.000002	D	0.95586	0.8565	M	0.80847	2.515	0.58432	D	0.999998	P;D	0.89917	0.73;1.0	P;D	0.85130	0.733;0.997	D	0.93894	0.7182	10	0.66056	D	0.02	-17.4804	9.6275	0.39759	0.5304:0.0:0.4696:0.0	.	112;112	E2QRG7;Q96H96	.;COQ2_HUMAN	F	162;125;112	ENSP00000310873:L162F;ENSP00000409275:L125F;ENSP00000311835:L112F	ENSP00000311835:L112F	L	-	1	0	COQ2	84419211	1.000000	0.71417	0.934000	0.37439	0.957000	0.61999	1.635000	0.37134	0.066000	0.16515	0.591000	0.81541	CTC		0.438	COQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363027.3	NM_015697	
MRPS18C	51023	broad.mit.edu	37	4	84382276	84382276	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:84382276T>G	ENST00000295491.4	+	6	468	c.355T>G	c.(355-357)Ttt>Gtt	p.F119V	MRPS18C_ENST00000507019.1_Missense_Mutation_p.F91V|FAM175A_ENST00000321945.7_3'UTR|MRPS18C_ENST00000507349.1_3'UTR	NM_016067.2	NP_057151.1	Q9Y3D5	RT18C_HUMAN	mitochondrial ribosomal protein S18C	119					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	structural constituent of ribosome (GO:0003735)	p.F119V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5		Hepatocellular(203;0.114)				CTTTACAGGGTTTATGCCAGT	0.338																																					p.F119V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T355G	4						.						101.0	108.0	106.0					4																	84382276		2203	4299	6502	84601300	SO:0001583	missense	51023	exon6				CCDS3604.1, CCDS75159.1	4q21.21-q21.23	2012-09-13			ENSG00000163319	ENSG00000163319		"""Mitochondrial ribosomal proteins / small subunits"""	16633	protein-coding gene	gene with protein product		611983				11279123, 10810093	Standard	XM_005263043		Approved	MRPS18-1, CGI-134, FLJ11146, FLJ22967	uc003hor.4	Q9Y3D5	OTTHUMG00000130430	ENST00000295491.4:c.355T>G	4.37:g.84382276T>G	ENSP00000295491:p.Phe119Val		84601300	NM_016067		Missense_Mutation	SNP	ENST00000295491.4	37	CCDS3604.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.4|21.4	4.138986|4.138986	0.77775|0.77775	.|.	.|.	ENSG00000163319|ENSG00000163319	ENST00000295491;ENST00000507019|ENST00000509970	.|.	.|.	.|.	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70902|0.70902	0.3277|0.3277	M|M	0.64170|0.64170	1.965|1.965	0.80722|0.80722	D|D	1|1	P|.	0.45715|.	0.865|.	P|.	0.48189|.	0.57|.	T|T	0.70490|0.70490	-0.4857|-0.4857	9|5	0.72032|.	D|.	0.01|.	-18.7333|-18.7333	14.9268|14.9268	0.70884|0.70884	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	119|.	Q9Y3D5|.	RT18C_HUMAN|.	V|G	119;91|89	.|.	ENSP00000295491:F119V|.	F|V	+|+	1|2	0|0	MRPS18C|MRPS18C	84601300|84601300	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.936000|4.936000	0.63506|0.63506	2.108000|2.108000	0.64289|0.64289	0.482000|0.482000	0.46254|0.46254	TTT|GTT		0.338	MRPS18C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252820.2		
WDFY3	23001	broad.mit.edu	37	4	85642562	85642562	+	Splice_Site	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:85642562C>A	ENST00000295888.4	-	47	8012	c.7605G>T	c.(7603-7605)aaG>aaT	p.K2535N	WDFY3_ENST00000322366.6_Splice_Site_p.K2518N	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2535	Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.K2535N(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGCACAATACCTTTTCTCCTT	0.408																																					p.K2535N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7605T	4						.						184.0	173.0	177.0					4																	85642562		2203	4300	6503	85861586	SO:0001630	splice_region_variant	23001	exon47			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.7605+1G>T	4.37:g.85642562C>A			85861586	NM_014991	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	32	5.132811	0.94517	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514711	T;T;T	0.68331	-0.28;-0.32;-0.21	5.77	5.77	0.91146	PH-BEACH domain (1);	0.043169	0.85682	D	0.000000	T	0.80969	0.4726	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	T	0.78326	-0.2247	9	.	.	.	.	20.3559	0.98840	0.0:1.0:0.0:0.0	.	2535	Q8IZQ1	WDFY3_HUMAN	N	2518;2535;138	ENSP00000318466:K2518N;ENSP00000295888:K2535N;ENSP00000424987:K138N	.	K	-	3	2	WDFY3	85861586	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.445000	0.80570	2.890000	0.99128	0.585000	0.79938	AAG		0.408	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991	Missense_Mutation
HERC5	51191	broad.mit.edu	37	4	89390330	89390330	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:89390330G>T	ENST00000264350.3	+	9	1310	c.1157G>T	c.(1156-1158)aGg>aTg	p.R386M	HERC5_ENST00000508159.1_Missense_Mutation_p.R24M	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	386					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.R386M(1)		NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		AATCTGAAGAGGACAATTCCT	0.398																																					p.R386M	Esophageal Squamous(39;887 1012 34045 50514)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1157T	4						.						119.0	112.0	114.0					4																	89390330		2203	4300	6503	89609353	SO:0001583	missense	51191	exon9			AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.1157G>T	4.37:g.89390330G>T	ENSP00000264350:p.Arg386Met		89609353	NM_016323	B2RTQ1|Q69G20	Missense_Mutation	SNP	ENST00000264350.3	37	CCDS3630.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630302	0.67015	.	.	ENSG00000138646	ENST00000264350;ENST00000508159	T;T	0.38887	1.11;1.15	3.81	3.81	0.43845	.	0.252223	0.30879	N	0.008696	T	0.38374	0.1038	L	0.59436	1.845	0.28595	N	0.909435	P	0.38863	0.65	B	0.34590	0.186	T	0.49986	-0.8880	10	0.66056	D	0.02	.	13.6275	0.62173	0.0:0.0:1.0:0.0	.	386	Q9UII4	HERC5_HUMAN	M	386;24	ENSP00000264350:R386M;ENSP00000424129:R24M	ENSP00000264350:R386M	R	+	2	0	HERC5	89609353	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	5.182000	0.65059	2.436000	0.82500	0.655000	0.94253	AGG		0.398	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323	
HERC3	8916	broad.mit.edu	37	4	89575260	89575260	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:89575260A>C	ENST00000402738.1	+	7	992	c.753A>C	c.(751-753)gaA>gaC	p.E251D	HERC3_ENST00000264345.3_Missense_Mutation_p.E251D|HERC3_ENST00000407637.1_Missense_Mutation_p.E251D	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	251					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.E251D(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		GTTGTGGAGAAGAACACACAG	0.368																																					p.E251D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A753C	4						.						105.0	104.0	104.0					4																	89575260		2203	4300	6503	89794283	SO:0001583	missense	8916	exon7			D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"""hect domain and RLD 3"""			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.753A>C	4.37:g.89575260A>C	ENSP00000385684:p.Glu251Asp		89794283	NM_014606	A8K1S5|Q8IXX3	Missense_Mutation	SNP	ENST00000402738.1	37	CCDS34028.1	.	.	.	.	.	.	.	.	.	.	A	12.14	1.849396	0.32699	.	.	ENSG00000138641	ENST00000402738;ENST00000407637;ENST00000264345	D;D;D	0.83673	-1.75;-1.75;-1.75	5.12	-0.363	0.12556	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.155455	0.56097	D	0.000029	T	0.66577	0.2803	N	0.26130	0.795	0.80722	D	1	B;B	0.11235	0.002;0.004	B;B	0.22880	0.042;0.011	T	0.44050	-0.9353	10	0.15499	T	0.54	.	6.3258	0.21242	0.4395:0.0:0.4318:0.1287	.	251;251	Q15034;Q8IXX3	HERC3_HUMAN;.	D	251	ENSP00000385684:E251D;ENSP00000384005:E251D;ENSP00000264345:E251D	ENSP00000264345:E251D	E	+	3	2	HERC3	89794283	0.650000	0.27331	0.988000	0.46212	0.990000	0.78478	-0.081000	0.11321	-0.166000	0.10890	0.533000	0.62120	GAA		0.368	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606	
UNC5C	8633	broad.mit.edu	37	4	96091460	96091460	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:96091460C>T	ENST00000453304.1	-	15	2823	c.2475G>A	c.(2473-2475)ccG>ccA	p.P825P		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	825					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)	p.P825P(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GATCCAGCAGCGGCAAATCGA	0.517																																					p.P825P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2475A	4						.						146.0	137.0	140.0					4																	96091460		2203	4300	6503	96310483	SO:0001819	synonymous_variant	8633	exon15			AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.2475G>A	4.37:g.96091460C>T			96310483	NM_003728	Q8IUT0	Silent	SNP	ENST00000453304.1	37	CCDS3643.1																																																																																				0.517	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728	
STPG2	285555	broad.mit.edu	37	4	98480232	98480232	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:98480232C>T	ENST00000295268.3	-	11	1446	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K	RP11-681L8.1_ENST00000518105.1_RNA|STPG2_ENST00000506482.1_Intron	NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	453								p.E453K(1)									GCAGCCATTTCACCAATGAGA	0.269																																					p.E453K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1357A	4						.						86.0	95.0	92.0					4																	98480232		2201	4291	6492	98699255	SO:0001583	missense	285555	exon11			BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 37"""	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.1357G>A	4.37:g.98480232C>T	ENSP00000295268:p.Glu453Lys		98699255	NM_174952		Missense_Mutation	SNP	ENST00000295268.3	37	CCDS3645.1	.	.	.	.	.	.	.	.	.	.	C	7.649	0.682605	0.14907	.	.	ENSG00000163116	ENST00000295268	T	0.11495	2.77	2.37	-0.183	0.13284	.	3.229310	0.01763	N	0.030708	T	0.05227	0.0139	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30475	-0.9977	10	0.18276	T	0.48	0.7914	2.2414	0.04021	0.0:0.2338:0.3144:0.4518	.	453	Q8N412	CD037_HUMAN	K	453	ENSP00000295268:E453K	ENSP00000295268:E453K	E	-	1	0	C4orf37	98699255	0.006000	0.16342	0.003000	0.11579	0.008000	0.06430	-0.476000	0.06591	-0.044000	0.13491	0.563000	0.77884	GAA		0.269	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253642.1	NM_174952	
TSPAN5	10098	broad.mit.edu	37	4	99407929	99407929	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:99407929C>T	ENST00000305798.3	-	3	641	c.239G>A	c.(238-240)tGc>tAc	p.C80Y	TSPAN5_ENST00000509168.1_5'UTR|TSPAN5_ENST00000505184.1_Missense_Mutation_p.C9Y	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN	tetraspanin 5	80					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)	p.C80Y(2)		kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		CGCTCCAATGCACCCTGCAAA	0.483																																					p.C80Y												.	.	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)	c.G239A	4						.						165.0	153.0	157.0					4																	99407929		2203	4300	6503	99626952	SO:0001583	missense	10098	exon3				CCDS3646.1	4q22.3	2013-02-14	2005-03-21	2005-03-21	ENSG00000168785	ENSG00000168785		"""Tetraspanins"""	17753	protein-coding gene	gene with protein product		613136	"""transmembrane 4 superfamily member 9"""	TM4SF9			Standard	NM_005723		Approved	Tspan-5, NET-4	uc003hub.3	P62079	OTTHUMG00000131008	ENST00000305798.3:c.239G>A	4.37:g.99407929C>T	ENSP00000307701:p.Cys80Tyr		99626952	NM_005723	B2RDY2|O60628|O60746|Q6FHE5|Q9JLY1	Missense_Mutation	SNP	ENST00000305798.3	37	CCDS3646.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.900871	0.52227	.	.	ENSG00000168785	ENST00000305798;ENST00000505184;ENST00000515287;ENST00000511651	D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66	5.51	5.51	0.81932	Tetraspanin, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.94095	0.8107	H	0.95402	3.665	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.95137	0.8260	10	0.87932	D	0	.	19.614	0.95622	0.0:1.0:0.0:0.0	.	80	P62079	TSN5_HUMAN	Y	80;9;9;9	ENSP00000307701:C80Y;ENSP00000423916:C9Y;ENSP00000423504:C9Y;ENSP00000426248:C9Y	ENSP00000307701:C80Y	C	-	2	0	TSPAN5	99626952	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.495000	0.81514	2.873000	0.98535	0.561000	0.74099	TGC		0.483	TSPAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253641.2	NM_005723	
TET2	54790	broad.mit.edu	37	4	106155700	106155700	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:106155700delA	ENST00000540549.1	+	3	1461	c.601delA	c.(601-603)aaafs	p.K201fs	TET2_ENST00000413648.2_Frame_Shift_Del_p.K201fs|TET2_ENST00000305737.2_Frame_Shift_Del_p.K201fs|TET2_ENST00000545826.1_Frame_Shift_Del_p.K201fs|TET2_ENST00000394764.1_Frame_Shift_Del_p.K201fs|TET2_ENST00000513237.1_Frame_Shift_Del_p.K222fs|TET2_ENST00000380013.4_Frame_Shift_Del_p.K201fs			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	201					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.K201fs*1(1)|p.N202fs*5(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TGTATTACTTAAAAACAAGGC	0.418			"""Mis N, F"""		MDS																																p.K201fs			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	.	.	2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	c.601delA	4						.						78.0	64.0	69.0					4																	106155700		2203	4300	6503	106375149	SO:0001589	frameshift_variant	54790	exon3			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.601delA	4.37:g.106155700delA	ENSP00000442788:p.Lys201fs		106375149	NM_017628	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Frame_Shift_Del	DEL	ENST00000540549.1	37	CCDS47120.1																																																																																				0.418	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628	
CENPU	79682	broad.mit.edu	37	4	185638291	185638291	+	Splice_Site	DEL	T	T	-	rs34873798		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:185638291delT	ENST00000281453.5	-	5	450	c.380delA	c.(379-381)aag>ag	p.K127fs	MLF1IP_ENST00000541971.1_Splice_Site_p.K127fs	NM_024629.3	NP_078905.2												p.K127fs*31(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1)	13		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		CCTACATACCTTTTTTGCACT	0.308																																					p.K127fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.380delA	4						.						103.0	99.0	100.0					4																	185638291		2203	4299	6502	185875285	SO:0001630	splice_region_variant	79682	exon5																														ENST00000281453.5:c.381+1A>-	4.37:g.185638291delT			185875285	NM_024629		Frame_Shift_Del	DEL	ENST00000281453.5	37	CCDS3838.1																																																																																				0.308	MLF1IP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360841.2		Frame_Shift_Del
FAT1	2195	broad.mit.edu	37	4	187539149	187539149	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr4:187539149A>G	ENST00000441802.2	-	10	8800	c.8591T>C	c.(8590-8592)aTg>aCg	p.M2864T		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2864	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.M2864T(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCCTGTTTCCATGTTAATGGC	0.418										HNSCC(5;0.00058)																											p.M2864T	Colon(197;1040 2055 4143 4984 49344)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T8591C	4						.						154.0	138.0	143.0					4																	187539149		1935	4150	6085	187776143	SO:0001583	missense	2195	exon10			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.8591T>C	4.37:g.187539149A>G	ENSP00000406229:p.Met2864Thr		187776143	NM_005245		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	A	4.128	0.021940	0.08006	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.44083	0.93	4.86	1.07	0.20283	Cadherin (4);Cadherin-like (1);	0.338962	0.35151	N	0.003413	T	0.11024	0.0269	N	0.01219	-0.95	0.32525	N	0.535733	B	0.16396	0.017	B	0.18263	0.021	T	0.08411	-1.0723	10	0.15066	T	0.55	.	1.2255	0.01932	0.4936:0.1423:0.2271:0.137	.	2864	Q14517	FAT1_HUMAN	T	2864;2866	ENSP00000406229:M2864T	ENSP00000260147:M2866T	M	-	2	0	FAT1	187776143	0.966000	0.33281	0.877000	0.34402	0.760000	0.43138	1.196000	0.32198	0.105000	0.17753	-0.344000	0.07964	ATG		0.418	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
CDH18	1016	broad.mit.edu	37	5	19483544	19483545	+	In_Frame_Ins	INS	-	-	TGC	rs375639421		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:19483544_19483545insTGC	ENST00000507958.1	-	14	2737_2738	c.1747_1748insGCA	c.(1747-1749)acc>aGCAcc	p.582_583insS	CDH18_ENST00000506372.1_In_Frame_Ins_p.547_548insA|CDH18_ENST00000274170.4_In_Frame_Ins_p.582_583insS|CDH18_ENST00000502796.1_In_Frame_Ins_p.546_547insA|CDH18_ENST00000382275.1_In_Frame_Ins_p.582_583insS			Q13634	CAD18_HUMAN	cadherin 18, type 2	582	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S582_T583insS(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GATGGTGAGGGTGCTGCTGCTG	0.535																																					p.T583delinsST												.	.	2	Insertion - In frame(2)	large_intestine(2)	c.1748_1749insGCA	5						.																																			19519302	SO:0001652	inframe_insertion	1016	exon12			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1745_1747dupGCA	5.37:g.19483551_19483553dupTGC	ENSP00000425093:p.Ser582_Ser582dup		19519301	NM_004934	A8K0I2|B4DHG6|Q8N5Z2	In_Frame_Ins	INS	ENST00000507958.1	37	CCDS3889.1																																																																																				0.535	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934	
CTNND2	1501	broad.mit.edu	37	5	11023072	11023072	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:11023072G>T	ENST00000304623.8	-	17	2997	c.2808C>A	c.(2806-2808)gaC>gaA	p.D936E	CTNND2_ENST00000458100.2_Missense_Mutation_p.D503E|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.D599E|CTNND2_ENST00000511377.1_Missense_Mutation_p.D845E|CTNND2_ENST00000359640.2_Missense_Mutation_p.D878E	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	936					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D936E(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGTGGACTAGGTCTCGCATGG	0.517																																					p.D936E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2808A	5						.						157.0	125.0	136.0					5																	11023072		2203	4300	6503	11076072	SO:0001583	missense	1501	exon17			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2808C>A	5.37:g.11023072G>T	ENSP00000307134:p.Asp936Glu		11076072	NM_001332	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676328	0.67928	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	5.81	4.93	0.64822	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56601	0.1996	L	0.44542	1.39	0.80722	D	1	D;D;D	0.64830	0.99;0.99;0.994	D;D;D	0.70716	0.931;0.931;0.97	T	0.48433	-0.9036	10	0.30854	T	0.27	-30.0983	11.5004	0.50435	0.1337:0.0:0.8663:0.0	.	599;528;936	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	E	936;878;845;31;503;599	ENSP00000307134:D936E;ENSP00000352661:D878E;ENSP00000426510:D845E;ENSP00000391155:D503E;ENSP00000426887:D599E	ENSP00000307134:D936E	D	-	3	2	CTNND2	11076072	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	2.360000	0.44151	2.746000	0.94184	0.655000	0.94253	GAC		0.517	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332	
SLCO4C1	353189	broad.mit.edu	37	5	101627110	101627110	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:101627110C>T	ENST00000310954.6	-	2	842	c.556G>A	c.(556-558)Gca>Aca	p.A186T		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1									p.A186T(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AATACAAGTGCTCCCAGTCCA	0.348																																					p.A186T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G556A	5						.						77.0	74.0	75.0					5																	101627110		2203	4300	6503	101655009	SO:0001583	missense	353189	exon2			AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.556G>A	5.37:g.101627110C>T	ENSP00000309741:p.Ala186Thr		101655009	NM_180991		Missense_Mutation	SNP	ENST00000310954.6	37	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.580330	0.86645	.	.	ENSG00000173930	ENST00000310954	T	0.42131	0.98	5.43	4.48	0.54585	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.103917	0.41712	D	0.000833	T	0.37128	0.0992	L	0.45285	1.41	0.34281	D	0.682114	B	0.21071	0.051	B	0.32149	0.141	T	0.45991	-0.9223	10	0.31617	T	0.26	.	10.9101	0.47103	0.4193:0.5807:0.0:0.0	.	186	Q6ZQN7	SO4C1_HUMAN	T	186	ENSP00000309741:A186T	ENSP00000309741:A186T	A	-	1	0	SLCO4C1	101655009	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	3.214000	0.51161	2.521000	0.84997	0.591000	0.81541	GCA		0.348	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991	
NREP	9315	broad.mit.edu	37	5	111066733	111066733	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:111066733G>A	ENST00000379671.3	-	5	356	c.92C>T	c.(91-93)cCt>cTt	p.P31L	NREP_ENST00000507742.1_5'UTR|NREP_ENST00000446294.2_Missense_Mutation_p.P31L|NREP_ENST00000455559.2_Missense_Mutation_p.P31L|NREP_ENST00000509979.1_3'UTR|STARD4-AS1_ENST00000500779.2_RNA|NREP_ENST00000515855.1_3'UTR|NREP_ENST00000508870.1_Missense_Mutation_p.P31L|NREP_ENST00000447165.2_Missense_Mutation_p.P31L|STARD4-AS1_ENST00000513221.1_RNA|NREP_ENST00000453526.2_Missense_Mutation_p.P31L|NREP_ENST00000395634.3_Missense_Mutation_p.P75L|NREP_ENST00000419114.2_Missense_Mutation_p.P31L|NREP_ENST00000257435.7_Missense_Mutation_p.P31L|NREP_ENST00000450761.2_Missense_Mutation_p.P31L|NREP_ENST00000509025.1_Intron|NREP_ENST00000509427.1_Missense_Mutation_p.P31L	NM_001142478.1	NP_001135950.1	Q16612	NREP_HUMAN	neuronal regeneration related protein	31					axon regeneration (GO:0031103)|regulation of neuron differentiation (GO:0045664)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P31L(1)|p.P75L(1)									CTTTGGGACAGGAAGTCTTCC	0.463																																					p.P75L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C224T	5						.						132.0	106.0	115.0					5																	111066733		2202	4300	6502	111094632	SO:0001583	missense	9315	exon4			AF119859	CCDS4105.1, CCDS47255.1	5q22.1	2012-12-07	2012-12-07	2012-01-23	ENSG00000134986	ENSG00000134986			16834	protein-coding gene	gene with protein product	"""neuronal protein 3.1"""	607332	"""chromosome 5 open reading frame 13"", ""neuronal regeneration related protein homolog (rat)"""	C5orf13		8261136, 10981724, 15485502	Standard	NM_004772		Approved	P311, D4S114, PRO1873, PTZ17, SEZ17	uc011cvr.2	Q16612	OTTHUMG00000128795	ENST00000379671.3:c.92C>T	5.37:g.111066733G>A	ENSP00000368993:p.Pro31Leu		111094632	NM_001142475	B2RDN8|B7Z5D2|D3DSZ8	Missense_Mutation	SNP	ENST00000379671.3	37	CCDS4105.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571190	0.65765	.	.	ENSG00000134986	ENST00000379671;ENST00000257435;ENST00000447165;ENST00000446294;ENST00000395634;ENST00000450761;ENST00000419114;ENST00000509427;ENST00000453526;ENST00000455559;ENST00000508870;ENST00000513100;ENST00000508161	T;T;T;T;T;T;T;T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000007	D	0.83704	0.5312	.	.	.	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.85305	0.1075	9	0.87932	D	0	-13.8617	19.6323	0.95713	0.0:0.0:1.0:0.0	.	31;75;31	D6RIC9;B7Z5D2;Q16612	.;.;NP311_HUMAN	L	31;31;31;31;75;31;31;31;31;31;31;31;31	ENSP00000368993:P31L;ENSP00000257435:P31L;ENSP00000408839:P31L;ENSP00000402965:P31L;ENSP00000378996:P75L;ENSP00000416617:P31L;ENSP00000399766:P31L;ENSP00000422630:P31L;ENSP00000403383:P31L;ENSP00000392559:P31L;ENSP00000427149:P31L;ENSP00000427476:P31L;ENSP00000422046:P31L	ENSP00000257435:P31L	P	-	2	0	C5orf13	111094632	1.000000	0.71417	0.941000	0.38009	0.960000	0.62799	3.650000	0.54424	2.645000	0.89757	0.655000	0.94253	CCT		0.463	NREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250722.1	NM_004772	
APC	324	broad.mit.edu	37	5	112174611	112174611	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:112174611C>T	ENST00000457016.1	+	16	3700	c.3320C>T	c.(3319-3321)gCc>gTc	p.A1107V	APC_ENST00000257430.4_Missense_Mutation_p.A1107V|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.A1107V			P25054	APC_HUMAN	adenomatous polyposis coli	1107	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.A1107V(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TCACGGGGAGCCAATGGTTCA	0.403		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.A1089V	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	.	.	2	Substitution - Missense(1)|Unknown(1)	large_intestine(1)|skin(1)	c.C3266T	5						.						93.0	85.0	88.0					5																	112174611		2202	4300	6502	112202510	SO:0001583	missense	324	exon14	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3320C>T	5.37:g.112174611C>T	ENSP00000413133:p.Ala1107Val		112202510	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.184836	0.38609	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.93906	-2.58;-3.31;-2.58;-2.58;-2.76	5.76	4.89	0.63831	.	0.376664	0.30302	N	0.009927	D	0.88085	0.6342	N	0.19112	0.55	0.32613	N	0.524388	B;B	0.15141	0.0;0.012	B;B	0.16289	0.0;0.015	D	0.87339	0.2330	10	0.62326	D	0.03	-0.0017	14.6679	0.68921	0.0:0.9302:0.0:0.0698	.	1109;1107	Q4LE70;P25054	.;APC_HUMAN	V	1107;1089;1107;1107;1107	ENSP00000413133:A1107V;ENSP00000423224:A1089V;ENSP00000257430:A1107V;ENSP00000427089:A1107V;ENSP00000423828:A1107V	ENSP00000257430:A1107V	A	+	2	0	APC	112202510	1.000000	0.71417	0.981000	0.43875	0.842000	0.47809	3.725000	0.54970	1.437000	0.47472	0.655000	0.94253	GCC		0.403	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
YTHDC2	64848	broad.mit.edu	37	5	112878174	112878174	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:112878174A>C	ENST00000161863.4	+	10	1682	c.1469A>C	c.(1468-1470)cAt>cCt	p.H490P	YTHDC2_ENST00000515883.1_Missense_Mutation_p.H490P	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	490					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)	p.H490P(1)		NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		CAGGTCTTTCATCTCATTTTA	0.303																																					p.H490P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1469C	5						.						135.0	133.0	134.0					5																	112878174		2202	4299	6501	112906073	SO:0001583	missense	64848	exon10			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.1469A>C	5.37:g.112878174A>C	ENSP00000161863:p.His490Pro		112906073	NM_022828	B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	A	18.87	3.714547	0.68730	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	T;T	0.64085	-0.08;-0.08	4.99	4.99	0.66335	Ankyrin repeat-containing domain (4);	0.097326	0.64402	D	0.000001	T	0.67144	0.2862	L	0.42245	1.32	0.43902	D	0.996539	D	0.57571	0.98	P	0.54544	0.755	T	0.71507	-0.4572	10	0.87932	D	0	.	14.9576	0.71127	1.0:0.0:0.0:0.0	.	490	Q9H6S0	YTDC2_HUMAN	P	490;490;400	ENSP00000161863:H490P;ENSP00000423101:H490P	ENSP00000161863:H490P	H	+	2	0	YTHDC2	112906073	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.647000	0.74354	2.003000	0.58678	0.528000	0.53228	CAT		0.303	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828	
SEMA6A	57556	broad.mit.edu	37	5	115827473	115827473	+	Silent	SNP	T	T	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:115827473T>G	ENST00000343348.6	-	7	1285	c.498A>C	c.(496-498)ccA>ccC	p.P166P	CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000257414.8_Silent_p.P166P|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000503962.1_5'UTR|SEMA6A_ENST00000510263.1_Silent_p.P166P	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	166	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)	p.P166P(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGGCATCATATGGGCATCTGG	0.413																																					p.P166P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A498C	5						.						143.0	142.0	142.0					5																	115827473		1975	4168	6143	115855372	SO:0001819	synonymous_variant	57556	exon7			AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.498A>C	5.37:g.115827473T>G			115855372	NM_020796	Q9P2H9	Silent	SNP	ENST00000343348.6	37	CCDS47256.1																																																																																				0.413	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796	
FTMT	94033	broad.mit.edu	37	5	121188355	121188355	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:121188355C>T	ENST00000321339.1	+	1	706	c.697C>T	c.(697-699)Cat>Tat	p.H233Y		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	233					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)	p.H233Y(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TTTTGACACACATACCCTTGG	0.512																																					p.H233Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C697T	5						.						100.0	111.0	107.0					5																	121188355		2203	4299	6502	121216254	SO:0001583	missense	94033	exon1			BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.697C>T	5.37:g.121188355C>T	ENSP00000313691:p.His233Tyr		121216254	NM_177478		Missense_Mutation	SNP	ENST00000321339.1	37	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	C	8.969	0.972478	0.18736	.	.	ENSG00000181867	ENST00000321339	T	0.65178	-0.14	3.68	3.68	0.42216	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);	0.000000	0.85682	D	0.000000	T	0.58438	0.2122	M	0.77616	2.38	0.40803	D	0.983356	B	0.22276	0.067	B	0.22880	0.042	T	0.56312	-0.8000	10	0.06891	T	0.86	.	13.7289	0.62776	0.0:1.0:0.0:0.0	.	233	Q8N4E7	FTMT_HUMAN	Y	233	ENSP00000313691:H233Y	ENSP00000313691:H233Y	H	+	1	0	FTMT	121216254	1.000000	0.71417	0.941000	0.38009	0.171000	0.22731	5.312000	0.65792	2.338000	0.79540	0.609000	0.83330	CAT		0.512	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478	
FAM13B	51306	broad.mit.edu	37	5	137281636	137281636	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:137281636C>T	ENST00000033079.3	-	19	2680	c.2229G>A	c.(2227-2229)agG>agA	p.R743R	FAM13B_ENST00000425075.2_Silent_p.R619R|FAM13B_ENST00000420893.2_Silent_p.R715R	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	743					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.R743R(1)		endometrium(4)|kidney(2)|lung(5)	11						GTTTTACAAGCCTGTATCTAT	0.353																																					p.R743R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2229A	5						.						121.0	112.0	115.0					5																	137281636		2203	4300	6503	137309535	SO:0001819	synonymous_variant	51306	exon19			AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"""Rho GTPase activating proteins"""	1335	protein-coding gene	gene with protein product		609371	"""chromosome 5 open reading frame 5"", ""family with sequence similarity 13, member B1"""	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.2229G>A	5.37:g.137281636C>T			137309535	NM_016603	D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Silent	SNP	ENST00000033079.3	37	CCDS4195.1																																																																																				0.353	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1		
BRD8	10902	broad.mit.edu	37	5	137506562	137506562	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:137506562G>C	ENST00000254900.5	-	6	770	c.399C>G	c.(397-399)caC>caG	p.H133Q	BRD8_ENST00000230901.5_Missense_Mutation_p.H133Q|BRD8_ENST00000402931.1_Missense_Mutation_p.H133Q|BRD8_ENST00000455658.2_Missense_Mutation_p.H92Q|BRD8_ENST00000411594.2_Missense_Mutation_p.H133Q	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	133					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)	p.H133Q(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGCTGTCCATGTGTCCAGCTT	0.393																																					p.H133Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C399G	5						.						166.0	158.0	161.0					5																	137506562		2203	4300	6503	137534461	SO:0001583	missense	10902	exon6			AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.399C>G	5.37:g.137506562G>C	ENSP00000254900:p.His133Gln		137534461	NM_006696	O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	ENST00000254900.5	37	CCDS4198.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.41|16.41	3.115875|3.115875	0.56505|0.56505	.|.	.|.	ENSG00000112983|ENSG00000112983	ENST00000254900;ENST00000454473;ENST00000418329;ENST00000230901;ENST00000402931;ENST00000411594;ENST00000455658;ENST00000453824|ENST00000441656	T;T;T;T;T;T;T|.	0.30182|.	2.01;1.55;1.54;1.71;1.7;1.54;1.67|.	5.82|5.82	1.78|1.78	0.24846|0.24846	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.41650|0.41650	0.1168|0.1168	L|L	0.32530|0.32530	0.975|0.975	0.52501|0.52501	D|D	0.999951|0.999951	D;D;B;B;B;P|.	0.71674|.	0.984;0.998;0.141;0.22;0.22;0.675|.	D;D;B;B;B;B|.	0.75484|.	0.974;0.986;0.064;0.135;0.188;0.24|.	T|T	0.14282|0.14282	-1.0478|-1.0478	10|5	0.31617|.	T|.	0.26|.	-8.6147|-8.6147	5.1575|5.1575	0.15042|0.15042	0.286:0.0:0.5804:0.1336|0.286:0.0:0.5804:0.1336	.|.	92;117;133;133;133;133|.	F8W820;B4DN43;A8K1N6;Q9H0E9-4;Q9H0E9-2;Q9H0E9|.	.;.;.;.;.;BRD8_HUMAN|.	Q|R	133;128;128;133;133;133;92;21|127	ENSP00000254900:H133Q;ENSP00000398067:H128Q;ENSP00000398873:H128Q;ENSP00000230901:H133Q;ENSP00000384845:H133Q;ENSP00000394330:H133Q;ENSP00000408396:H92Q|.	ENSP00000230901:H133Q|.	H|T	-|-	3|2	2|0	BRD8|BRD8	137534461|137534461	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.525000|0.525000	0.22956|0.22956	0.807000|0.807000	0.34208|0.34208	0.655000|0.655000	0.94253|0.94253	CAC|ACA		0.393	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696	
ANKHD1	54882	broad.mit.edu	37	5	139838290	139838290	+	Silent	SNP	A	A	G	rs565002604		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:139838290A>G	ENST00000360839.2	+	8	1477	c.1323A>G	c.(1321-1323)ccA>ccG	p.P441P	ANKHD1_ENST00000394722.3_Silent_p.P430P|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.P441P|ANKHD1_ENST00000394723.3_Silent_p.P441P|ANKHD1_ENST00000297183.6_Silent_p.P441P	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	441						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.P441P(2)		breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGAATCTCCATTGACGCTAG	0.438													A|||	1	0.000199681	0.0	0.0	5008	,	,		12907	0.001		0.0	False		,,,				2504	0.0				p.P441P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A1323G	5						.						96.0	89.0	92.0					5																	139838290		2203	4300	6503	139818474	SO:0001819	synonymous_variant	404734	exon8			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.1323A>G	5.37:g.139838290A>G			139818474	NM_017747	A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Silent	SNP	ENST00000360839.2	37	CCDS4225.1																																																																																				0.438	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747	
ANKHD1	54882	broad.mit.edu	37	5	139905675	139905675	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:139905675G>A	ENST00000360839.2	+	26	4741	c.4587G>A	c.(4585-4587)ggG>ggA	p.G1529G	ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.G1529G|ANKHD1_ENST00000297183.6_Silent_p.G1529G|SNORD45_ENST00000363181.1_RNA|ANKHD1_ENST00000544120.1_5'Flank	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1529						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.G1529G(2)		breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGTGTTTGGGAAAAAAAGGG	0.423																																					p.G1529G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G4587A	5						.						133.0	145.0	141.0					5																	139905675		2203	4300	6503	139885859	SO:0001819	synonymous_variant	404734	exon26			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.4587G>A	5.37:g.139905675G>A			139885859	NM_017747	A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Silent	SNP	ENST00000360839.2	37	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	G	9.333	1.061035	0.19987	.	.	ENSG00000131503	ENST00000435794	.	.	.	5.38	3.53	0.40419	.	.	.	.	.	T	0.59376	0.2189	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56220	-0.8015	4	.	.	.	.	9.3831	0.38327	0.078:0.1473:0.7747:0.0	.	.	.	.	K	20	.	.	E	+	1	0	ANKHD1	139885859	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.607000	0.54102	1.224000	0.43551	0.460000	0.39030	GAA		0.423	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747	
PCDHA1	56147	broad.mit.edu	37	5	140168019	140168019	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:140168019T>C	ENST00000504120.2	+	1	2144	c.2144T>C	c.(2143-2145)cTg>cCg	p.L715P	PCDHA1_ENST00000378133.3_Missense_Mutation_p.L715P|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	715					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)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L715P(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCTCACACTGCTGCTGTAC	0.677																																					p.L715P												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T2144C	5						.						61.0	55.0	57.0					5																	140168019		2203	4299	6502	140148203	SO:0001583	missense	56147	exon1			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.2144T>C	5.37:g.140168019T>C	ENSP00000420840:p.Leu715Pro		140148203	NM_031410	O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	t	20.4	3.992246	0.74703	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	T;T	0.20881	2.04;2.04	4.16	4.16	0.48862	.	0.285258	0.18840	U	0.129701	T	0.56775	0.2008	H	0.94264	3.515	0.58432	D	0.999995	D;D	0.89917	0.999;1.0	D;D	0.75484	0.966;0.986	T	0.69300	-0.5181	10	0.87932	D	0	.	13.2381	0.59982	0.0:0.0:0.0:1.0	.	715;715	Q9Y5I3;Q9Y5I3-3	PCDA1_HUMAN;.	P	715	ENSP00000420840:L715P;ENSP00000367373:L715P	ENSP00000367373:L715P	L	+	2	0	PCDHA1	140148203	0.012000	0.17670	1.000000	0.80357	0.798000	0.45092	1.751000	0.38339	1.661000	0.50771	0.524000	0.50904	CTG		0.677	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900	
PCDHAC2	56134	broad.mit.edu	37	5	140346790	140346790	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:140346790C>T	ENST00000289269.5	+	1	971	c.439C>T	c.(439-441)Cgt>Tgt	p.R147C	PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHAC1_ENST00000253807.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	147	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R147C(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACTCACCGCGTTTCCCGCG	0.632																																					p.R147C	Melanoma(190;638 2083 3390 11909 52360)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C439T	5						.						35.0	38.0	37.0					5																	140346790		2203	4300	6503	140326974	SO:0001583	missense	56134	exon1			AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.439C>T	5.37:g.140346790C>T	ENSP00000289269:p.Arg147Cys		140326974	NM_018899	Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	ENST00000289269.5	37	CCDS4242.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258195	0.80246	.	.	ENSG00000243232	ENST00000289269	T	0.21031	2.03	5.43	5.43	0.79202	Cadherin (2);Cadherin-like (1);	0.000000	0.42420	D	0.000717	T	0.43678	0.1258	M	0.77616	2.38	0.51012	D	0.999909	D;D	0.76494	0.998;0.999	P;P	0.61800	0.894;0.814	T	0.28106	-1.0054	10	0.41790	T	0.15	.	14.1252	0.65215	0.1502:0.8498:0.0:0.0	.	147;147	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	C	147	ENSP00000289269:R147C	ENSP00000289269:R147C	R	+	1	0	PCDHAC2	140326974	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	-0.068000	0.11561	2.555000	0.86185	0.555000	0.69702	CGT		0.632	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899	
PCDHB1	29930	broad.mit.edu	37	5	140431763	140431763	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:140431763C>T	ENST00000306549.3	+	1	785	c.708C>T	c.(706-708)aaC>aaT	p.N236N		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	236	Cadherin 2. {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.N236N(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGATGTCAACGACCACGTGC	0.597																																					p.N236N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C708T	5						.						33.0	32.0	33.0					5																	140431763		2203	4300	6503	140411947	SO:0001819	synonymous_variant	29930	exon1			AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.708C>T	5.37:g.140431763C>T			140411947	NM_013340	Q2M257	Silent	SNP	ENST00000306549.3	37	CCDS4243.1																																																																																				0.597	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340	
PCDHB2	56133	broad.mit.edu	37	5	140476509	140476509	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:140476509C>T	ENST00000194155.4	+	1	2283	c.2135C>T	c.(2134-2136)gCg>gTg	p.A712V		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	712					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A712V(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGTTCGTGGCGGTGCGGCTG	0.701																																					p.A712V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2135T	5						.						30.0	34.0	32.0					5																	140476509		2077	4026	6103	140456693	SO:0001583	missense	56133	exon1			AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.2135C>T	5.37:g.140476509C>T	ENSP00000194155:p.Ala712Val		140456693	NM_018936	Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	C	9.416	1.081800	0.20309	.	.	ENSG00000112852	ENST00000194155	T	0.15603	2.41	4.45	1.51	0.23008	.	.	.	.	.	T	0.24122	0.0584	M	0.90369	3.11	0.09310	N	1	B	0.24186	0.099	B	0.23716	0.048	T	0.29761	-1.0001	9	0.45353	T	0.12	.	4.2458	0.10670	0.0:0.333:0.3482:0.3187	.	712	Q9Y5E7	PCDB2_HUMAN	V	712	ENSP00000194155:A712V	ENSP00000194155:A712V	A	+	2	0	PCDHB2	140456693	0.000000	0.05858	0.941000	0.38009	0.237000	0.25408	-1.692000	0.01918	0.384000	0.24942	0.558000	0.71614	GCG		0.701	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936	
PCDHB4	56131	broad.mit.edu	37	5	140503375	140503375	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:140503375G>A	ENST00000194152.1	+	1	1795	c.1795G>A	c.(1795-1797)Gcc>Acc	p.A599T		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	599	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A599T(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCCAGAACGCCTGGCTGTC	0.721																																					p.A599T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1795A	5						.						14.0	14.0	14.0					5																	140503375		1922	3861	5783	140483559	SO:0001583	missense	56131	exon1			AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1795G>A	5.37:g.140503375G>A	ENSP00000194152:p.Ala599Thr		140483559	NM_018938	Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965570	0.74131	.	.	ENSG00000081818	ENST00000194152	T	0.22134	1.97	4.01	3.05	0.35203	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.56572	0.1994	H	0.97291	3.975	0.38683	D	0.95258	D	0.89917	1.0	D	0.71656	0.974	T	0.70000	-0.4992	9	0.87932	D	0	.	9.4529	0.38736	0.0:0.0:0.5884:0.4116	.	599	Q9Y5E5	PCDB4_HUMAN	T	599	ENSP00000194152:A599T	ENSP00000194152:A599T	A	+	1	0	PCDHB4	140483559	0.011000	0.17503	1.000000	0.80357	0.997000	0.91878	0.135000	0.15952	2.235000	0.73313	0.485000	0.47835	GCC		0.721	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938	
PCDHB16	57717	broad.mit.edu	37	5	140564172	140564172	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:140564172C>T	ENST00000361016.2	+	1	3193	c.2038C>T	c.(2038-2040)Cag>Tag	p.Q680*		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	680					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q680*(1)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCCCCCGGCCAGACCCAGGC	0.692																																					p.Q680X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2038T	5						.						47.0	53.0	51.0					5																	140564172		2197	4293	6490	140544356	SO:0001587	stop_gained	57717	exon1			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.2038C>T	5.37:g.140564172C>T	ENSP00000354293:p.Gln680*		140544356	NM_020957	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Nonsense_Mutation	SNP	ENST00000361016.2	37	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	c	45	11.474625	0.99565	.	.	ENSG00000196963	ENST00000361016	.	.	.	3.91	-3.58	0.04597	.	3.336740	0.01268	N	0.009384	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	3.8729	0.09044	0.1405:0.2111:0.4842:0.1643	.	.	.	.	X	680	.	ENSP00000354293:Q680X	Q	+	1	0	PCDHB16	140544356	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-1.507000	0.02268	-0.236000	0.09753	0.479000	0.44913	CAG		0.692	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957	
PCDHB10	56126	broad.mit.edu	37	5	140574489	140574489	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:140574489T>A	ENST00000239446.4	+	1	2548	c.2364T>A	c.(2362-2364)aaT>aaA	p.N788K		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	788					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N788K(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGAAGAAAATTCCACCTTCC	0.418																																					p.N788K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2364A	5						.						47.0	52.0	50.0					5																	140574489		2203	4300	6503	140554673	SO:0001583	missense	56126	exon1			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.2364T>A	5.37:g.140574489T>A	ENSP00000239446:p.Asn788Lys		140554673	NM_018930	Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	T	10.60	1.395104	0.25205	.	.	ENSG00000120324	ENST00000239446	T	0.46819	0.86	3.61	-6.27	0.02026	.	.	.	.	.	T	0.44074	0.1276	M	0.80183	2.485	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.44982	-0.9292	9	0.52906	T	0.07	.	8.3724	0.32423	0.0:0.5161:0.1358:0.3481	.	788	Q9UN67	PCDBA_HUMAN	K	788	ENSP00000239446:N788K	ENSP00000239446:N788K	N	+	3	2	PCDHB10	140554673	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-2.631000	0.00871	-1.415000	0.02022	-0.467000	0.05162	AAT		0.418	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930	
PCDHB12	56124	broad.mit.edu	37	5	140590358	140590358	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:140590358G>T	ENST00000239450.2	+	1	2068	c.1879G>T	c.(1879-1881)Gcc>Tcc	p.A627S	PCDHB12_ENST00000541609.1_Missense_Mutation_p.A290S	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	627	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A627S(1)|p.A627T(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGCGCACCGCCAGGCTGCT	0.701																																					p.A627S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1879T	5						.						7.0	10.0	9.0					5																	140590358		1588	3245	4833	140570542	SO:0001583	missense	56124	exon1			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1879G>T	5.37:g.140590358G>T	ENSP00000239450:p.Ala627Ser		140570542	NM_018932	B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	G	9.947	1.219179	0.22373	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.53423	0.62;0.62	3.53	0.502	0.16932	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.35158	0.0922	L	0.28776	0.89	0.09310	N	1	B	0.27498	0.18	B	0.36030	0.216	T	0.39820	-0.9595	9	0.54805	T	0.06	.	3.7634	0.08613	0.4018:0.0:0.4299:0.1683	.	627	Q9Y5F1	PCDBC_HUMAN	S	290;627;247	ENSP00000440199:A290S;ENSP00000239450:A627S	ENSP00000239450:A627S	A	+	1	0	PCDHB12	140570542	0.000000	0.05858	0.045000	0.18777	0.998000	0.95712	-2.933000	0.00687	0.115000	0.18071	0.479000	0.44913	GCC		0.701	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932	
PCDHGA2	56113	broad.mit.edu	37	5	140719530	140719530	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:140719530C>T	ENST00000394576.2	+	1	992	c.992C>T	c.(991-993)gCg>gTg	p.A331V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	331	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.A331V(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTAACCAGAGCGAAGGTTATC	0.433																																					p.A331V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C992T	5						.						149.0	153.0	152.0					5																	140719530		2203	4300	6503	140699714	SO:0001583	missense	56113	exon1			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.992C>T	5.37:g.140719530C>T	ENSP00000378077:p.Ala331Val		140699714	NM_032009	Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	7.536	0.659606	0.14645	.	.	ENSG00000081853	ENST00000394576	T	0.01474	4.85	5.26	2.52	0.30459	Cadherin (4);Cadherin-like (1);	0.595751	0.13836	U	0.359348	T	0.03220	0.0094	L	0.61218	1.895	0.09310	N	1	B;B	0.30326	0.107;0.276	B;B	0.34931	0.104;0.192	T	0.32587	-0.9901	10	0.62326	D	0.03	.	8.5125	0.33226	0.0:0.7322:0.1269:0.1409	.	331;331	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	V	331	ENSP00000378077:A331V	ENSP00000378077:A331V	A	+	2	0	PCDHGA2	140699714	0.000000	0.05858	0.189000	0.23252	0.058000	0.15608	-0.155000	0.10115	0.319000	0.23209	-0.878000	0.02970	GCG		0.433	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915	
PCDHGB3	56102	broad.mit.edu	37	5	140750991	140750991	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:140750991G>A	ENST00000576222.1	+	1	1161	c.1030G>A	c.(1030-1032)Gcc>Acc	p.A344T	PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_5'Flank	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	344	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)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATGACAATGCCCCGGAGAT	0.443																																					p.A344T												.	.	0			c.G1030A	5						.						55.0	55.0	55.0					5																	140750991		1919	4138	6057	140731175	SO:0001583	missense	56102	exon1			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1030G>A	5.37:g.140750991G>A	ENSP00000461862:p.Ala344Thr		140731175	NM_018924	A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	CCDS58980.1																																																																																				0.443	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924	
PCDHGA8	9708	broad.mit.edu	37	5	140774158	140774158	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:140774158C>T	ENST00000398604.2	+	1	1778	c.1778C>T	c.(1777-1779)gCg>gTg	p.A593V	PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	593	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A593V(1)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGGTGGTGGCGGTGGACAGA	0.692																																					p.A593V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1778T	5						.						42.0	51.0	48.0					5																	140774158		2201	4298	6499	140754342	SO:0001583	missense	9708	exon1			AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1778C>T	5.37:g.140774158C>T	ENSP00000381605:p.Ala593Val		140754342	NM_032088	A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	26.2	4.717787	0.89205	.	.	ENSG00000253767	ENST00000398604	T	0.59364	0.27	5.06	5.06	0.68205	Cadherin (4);Cadherin-like (1);	0.000000	0.30989	U	0.008461	D	0.84101	0.5398	H	0.96889	3.9	0.46901	D	0.999249	D;D	0.76494	0.999;0.999	D;D	0.70487	0.969;0.928	D	0.89847	0.4007	10	0.72032	D	0.01	.	18.0785	0.89435	0.0:1.0:0.0:0.0	.	593;593	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	V	593	ENSP00000381605:A593V	ENSP00000381605:A593V	A	+	2	0	PCDHGA8	140754342	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.649000	0.61433	2.366000	0.80165	0.655000	0.94253	GCG		0.692	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088	
PCDHGB6	56100	broad.mit.edu	37	5	140789676	140789676	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:140789676A>G	ENST00000520790.1	+	1	1907	c.1907A>G	c.(1906-1908)gAc>gGc	p.D636G	PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	636	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D636G(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGACAGGGACGCAGCCCGC	0.672																																					p.D636G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1907G	5						.						18.0	22.0	21.0					5																	140789676		2085	4198	6283	140769860	SO:0001583	missense	56100	exon1			AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.1907A>G	5.37:g.140789676A>G	ENSP00000428603:p.Asp636Gly		140769860	NM_018926	Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	a	14.42	2.528787	0.44969	.	.	ENSG00000253305	ENST00000520790	T	0.51817	0.69	4.99	4.99	0.66335	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.62146	0.2404	M	0.89534	3.04	0.29551	N	0.851333	P;P	0.36125	0.538;0.474	B;B	0.40477	0.33;0.315	T	0.67573	-0.5636	9	0.87932	D	0	.	14.7215	0.69311	1.0:0.0:0.0:0.0	.	636;636	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	G	636	ENSP00000428603:D636G	ENSP00000428603:D636G	D	+	2	0	PCDHGB6	140769860	1.000000	0.71417	0.998000	0.56505	0.639000	0.38242	5.029000	0.64121	1.874000	0.54306	0.460000	0.39030	GAC		0.672	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926	
ARAP3	64411	broad.mit.edu	37	5	141051533	141051533	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:141051533G>T	ENST00000239440.4	-	11	1665	c.1600C>A	c.(1600-1602)Ctg>Atg	p.L534M	ARAP3_ENST00000513878.1_Missense_Mutation_p.L196M|ARAP3_ENST00000508305.1_Missense_Mutation_p.L456M	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	534	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.L534M(1)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCAGAACCCAGGGCCCGGTGC	0.612																																					p.L534M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1600A	5						.						92.0	92.0	92.0					5																	141051533		2203	4300	6503	141031717	SO:0001583	missense	64411	exon11			AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.1600C>A	5.37:g.141051533G>T	ENSP00000239440:p.Leu534Met		141031717	NM_022481	B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.048582	0.55110	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.59772	0.24;0.24;0.24	3.47	1.56	0.23342	.	0.000000	0.53938	U	0.000044	T	0.64583	0.2611	L	0.48877	1.53	0.31527	N	0.661647	D;D;D	0.89917	0.99;1.0;0.978	P;D;P	0.91635	0.898;0.999;0.897	T	0.65747	-0.6093	10	0.59425	D	0.04	.	7.9984	0.30282	0.218:0.0:0.782:0.0	.	196;456;534	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	M	456;534;196	ENSP00000421826:L456M;ENSP00000239440:L534M;ENSP00000421468:L196M	ENSP00000239440:L534M	L	-	1	2	ARAP3	141031717	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	3.884000	0.56175	0.157000	0.19338	0.563000	0.77884	CTG		0.612	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481	
PCDH1	5097	broad.mit.edu	37	5	141244871	141244871	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:141244871T>C	ENST00000394536.3	-	3	1164	c.1025A>G	c.(1024-1026)cAg>cGg	p.Q342R	PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000536585.1_Missense_Mutation_p.Q320R|PCDH1_ENST00000287008.3_Missense_Mutation_p.Q342R|PCDH1_ENST00000456271.1_Missense_Mutation_p.Q330R	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	342	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q342R(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CACCGGGCCCTGAACAGTGAT	0.577																																					p.Q342R	Ovarian(132;1609 1739 4190 14731 45037)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1025G	5						.						97.0	98.0	98.0					5																	141244871		2203	4300	6503	141225055	SO:0001583	missense	5097	exon3			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.1025A>G	5.37:g.141244871T>C	ENSP00000378043:p.Gln342Arg		141225055	NM_032420	Q8IUP2	Missense_Mutation	SNP	ENST00000394536.3	37	CCDS43375.1	.	.	.	.	.	.	.	.	.	.	t	13.04	2.117089	0.37339	.	.	ENSG00000156453	ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75	5.16	5.16	0.70880	Cadherin (5);Cadherin-like (1);	0.000000	0.46758	D	0.000261	T	0.29256	0.0728	N	0.05467	-0.045	0.53005	D	0.999961	P;P	0.38395	0.629;0.575	B;B	0.40329	0.326;0.219	T	0.12344	-1.0551	10	0.16420	T	0.52	.	13.0052	0.58701	0.0:0.0:0.0:1.0	.	342;342	Q08174;Q08174-2	PCDH1_HUMAN;.	R	342;342;330;353;320	ENSP00000287008:Q342R;ENSP00000378043:Q342R;ENSP00000403497:Q330R;ENSP00000350122:Q353R;ENSP00000438825:Q320R	ENSP00000287008:Q342R	Q	-	2	0	PCDH1	141225055	1.000000	0.71417	0.998000	0.56505	0.878000	0.50629	7.868000	0.87116	2.179000	0.69175	0.524000	0.50904	CAG		0.577	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420	
RBM27	54439	broad.mit.edu	37	5	145610264	145610264	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:145610264G>A	ENST00000265271.5	+	6	800	c.634G>A	c.(634-636)Gag>Aag	p.E212K	RBM27_ENST00000506502.1_Missense_Mutation_p.E212K	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	212					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E212K(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAATGACCTGGAGAGTTCCTA	0.438																																					p.E212K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G634A	5						.						135.0	118.0	123.0					5																	145610264		1568	3582	5150	145590457	SO:0001583	missense	54439	exon6			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.634G>A	5.37:g.145610264G>A	ENSP00000265271:p.Glu212Lys		145590457	NM_018989	Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001485	0.54254	.	.	ENSG00000091009	ENST00000265271	T	0.47528	0.84	6.03	6.03	0.97812	.	0.066182	0.64402	D	0.000009	T	0.46908	0.1417	L	0.53249	1.67	0.80722	D	1	B;B	0.29531	0.247;0.016	B;B	0.24974	0.057;0.011	T	0.29305	-1.0016	10	0.28530	T	0.3	-14.5506	20.5666	0.99351	0.0:0.0:1.0:0.0	.	212;212	Q9P2N5;B3KY61	RBM27_HUMAN;.	K	212	ENSP00000265271:E212K	ENSP00000265271:E212K	E	+	1	0	RBM27	145590457	1.000000	0.71417	1.000000	0.80357	0.198000	0.23893	7.601000	0.82783	2.854000	0.98071	0.655000	0.94253	GAG		0.438	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128	
TCERG1	10915	broad.mit.edu	37	5	145888766	145888766	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:145888766A>T	ENST00000296702.5	+	21	3091	c.3053A>T	c.(3052-3054)gAc>gTc	p.D1018V	TCERG1_ENST00000394421.2_Missense_Mutation_p.D997V	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	1018	FF 6.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)	p.D1018V(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCAAAGCTGACTTCAGGACG	0.294																																					p.D997V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2990T	5						.						81.0	89.0	87.0					5																	145888766		2203	4299	6502	145868959	SO:0001583	missense	10915	exon20			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.3053A>T	5.37:g.145888766A>T	ENSP00000296702:p.Asp1018Val		145868959	NM_001040006	Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	A	19.67	3.870650	0.72065	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.35236	1.32;1.32	5.66	4.48	0.54585	FF domain (2);	0.000000	0.85682	D	0.000000	T	0.55097	0.1899	M	0.68952	2.095	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.71656	0.974;0.967	T	0.52283	-0.8596	10	0.34782	T	0.22	-14.0404	12.9773	0.58544	0.8649:0.1351:0.0:0.0	.	997;1018	O14776-2;O14776	.;TCRG1_HUMAN	V	1018;997	ENSP00000296702:D1018V;ENSP00000377943:D997V	ENSP00000296702:D1018V	D	+	2	0	TCERG1	145868959	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.279000	0.95777	0.956000	0.37904	-0.321000	0.08615	GAC		0.294	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006	
OTULIN	90268	broad.mit.edu	37	5	14681686	14681686	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:14681686G>A	ENST00000284274.4	+	4	516	c.438G>A	c.(436-438)ccG>ccA	p.P146P		NM_138348.4	NP_612357.4	Q96BN8	OTUL_HUMAN		146	OTU.				canonical Wnt signaling pathway (GO:0060070)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|protein linear deubiquitination (GO:1990108)|sprouting angiogenesis (GO:0002040)	cytoplasm (GO:0005737)|LUBAC complex (GO:0071797)	cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)	p.P146P(1)		breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					TGGGGCTGCCGCCCTGGCTGC	0.537																																					p.P146P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G438A	5						.						37.0	43.0	41.0					5																	14681686		2090	4225	6315	14734686	SO:0001819	synonymous_variant	90268	exon4																														ENST00000284274.4:c.438G>A	5.37:g.14681686G>A			14734686	NM_138348	D3DTD3|Q8NAS0|Q96IA3	Silent	SNP	ENST00000284274.4	37	CCDS43302.1	.	.	.	.	.	.	.	.	.	.	G	0.256	-1.003118	0.02128	.	.	ENSG00000154124	ENST00000506417	.	.	.	5.81	0.397	0.16314	.	.	.	.	.	T	0.44117	0.1278	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25916	-1.0118	4	.	.	.	-17.8577	3.6475	0.08191	0.2341:0.1854:0.4649:0.1155	.	.	.	.	T	10	.	.	A	+	1	0	FAM105B	14734686	0.000000	0.05858	0.482000	0.27366	0.034000	0.12701	-0.608000	0.05641	0.380000	0.24823	-1.310000	0.01310	GCC		0.537	FAM105B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366012.1		
DPYSL3	1809	broad.mit.edu	37	5	146785258	146785258	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:146785258A>G	ENST00000398514.3	-	8	1097	c.726T>C	c.(724-726)atT>atC	p.I242I	DPYSL3_ENST00000534907.1_Intron|DPYSL3_ENST00000343218.5_Silent_p.I356I	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	242					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)	p.I242I(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTGGCTGGCAATGGTGATGG	0.498																																					p.I242I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T726C	5						.						296.0	300.0	299.0					5																	146785258		2138	4274	6412	146765451	SO:0001819	synonymous_variant	1809	exon8			D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.726T>C	5.37:g.146785258A>G			146765451	NM_001387	B3SXQ8|Q93012	Silent	SNP	ENST00000398514.3	37	CCDS43381.1																																																																																				0.498	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373421.2	NM_001387	
ABLIM3	22885	broad.mit.edu	37	5	148579973	148579973	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:148579973A>G	ENST00000506113.1	+	4	912	c.430A>G	c.(430-432)Aag>Gag	p.K144E	RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000326685.7_Missense_Mutation_p.K144E|ABLIM3_ENST00000508983.1_Missense_Mutation_p.K144E|ABLIM3_ENST00000356541.3_Missense_Mutation_p.K144E|ABLIM3_ENST00000504238.1_Missense_Mutation_p.K144E|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000309868.7_Missense_Mutation_p.K144E			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	144					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)	p.K144E(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAGCCCATCAAGATTCGTGG	0.572																																					p.K144E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A430G	5						.						130.0	112.0	118.0					5																	148579973		2203	4300	6503	148560166	SO:0001583	missense	22885	exon5			AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.430A>G	5.37:g.148579973A>G	ENSP00000425394:p.Lys144Glu		148560166	NM_014945	A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	A	9.063	0.994973	0.19043	.	.	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983	T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96	4.98	4.98	0.66077	.	0.050188	0.85682	D	0.000000	T	0.31358	0.0794	L	0.41906	1.305	0.58432	D	0.999999	P;B;B	0.34615	0.459;0.01;0.001	B;B;B	0.33521	0.165;0.016;0.005	T	0.09292	-1.0681	10	0.05959	T	0.93	.	14.7163	0.69272	1.0:0.0:0.0:0.0	.	144;144;144	O94929-3;O94929-2;O94929	.;.;ABLM3_HUMAN	E	144	ENSP00000315841:K144E;ENSP00000348938:K144E;ENSP00000310309:K144E;ENSP00000425394:K144E;ENSP00000421183:K144E;ENSP00000420855:K144E	ENSP00000310309:K144E	K	+	1	0	ABLIM3	148560166	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.958000	0.70330	1.878000	0.54408	0.374000	0.22700	AAG		0.572	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945	
FAT2	2196	broad.mit.edu	37	5	150945861	150945861	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:150945861T>C	ENST00000261800.5	-	1	2644	c.2632A>G	c.(2632-2634)Aca>Gca	p.T878A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	878	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T878A(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGTGTCCTGTAACAACCAGT	0.562																																					p.T878A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2632G	5						.						96.0	93.0	94.0					5																	150945861		2203	4300	6503	150926054	SO:0001583	missense	2196	exon1			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.2632A>G	5.37:g.150945861T>C	ENSP00000261800:p.Thr878Ala		150926054	NM_001447	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	T	7.903	0.734849	0.15574	.	.	ENSG00000086570	ENST00000261800	T	0.53423	0.62	5.67	4.52	0.55395	Cadherin (4);Cadherin-like (1);	0.254509	0.34531	N	0.003898	T	0.39253	0.1071	N	0.11756	0.17	0.27693	N	0.946059	D	0.59767	0.986	D	0.63283	0.913	T	0.29150	-1.0021	10	0.05959	T	0.93	.	8.5436	0.33408	0.0:0.1468:0.0:0.8532	.	878	Q9NYQ8	FAT2_HUMAN	A	878	ENSP00000261800:T878A	ENSP00000261800:T878A	T	-	1	0	FAT2	150926054	1.000000	0.71417	0.891000	0.34965	0.840000	0.47671	5.102000	0.64572	0.999000	0.39023	0.459000	0.35465	ACA		0.562	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
NMUR2	56923	broad.mit.edu	37	5	151775093	151775093	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:151775093T>C	ENST00000255262.3	-	3	1029	c.864A>G	c.(862-864)cgA>cgG	p.R288R	NMUR2_ENST00000518933.1_5'UTR	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	288					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)	p.R288R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			TGAAGAAGAGTCGGTCAATGT	0.483																																					p.R288R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A864G	5						.						156.0	135.0	143.0					5																	151775093		2203	4300	6503	151755286	SO:0001819	synonymous_variant	56923	exon3			AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"""GPCR / Class A : Neuromedin U receptors"""	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.864A>G	5.37:g.151775093T>C			151755286	NM_020167	Q7LC54|Q96AM5|Q9NRA6	Silent	SNP	ENST00000255262.3	37	CCDS4321.1																																																																																				0.483	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167	
GALNT10	55568	broad.mit.edu	37	5	153709146	153709146	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:153709146G>A	ENST00000297107.6	+	4	553	c.416G>A	c.(415-417)cGc>cAc	p.R139H	GALNT10_ENST00000377661.2_Missense_Mutation_p.R139H|GALNT10_ENST00000425427.2_Missense_Mutation_p.R139H|SAP30L-AS1_ENST00000519727.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	139					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.R139H(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			AACAGCAAGCGCTACCTGGAG	0.577																																					p.R139H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G416A	5						.						163.0	123.0	137.0					5																	153709146		2203	4300	6503	153689339	SO:0001583	missense	55568	exon4			AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.416G>A	5.37:g.153709146G>A	ENSP00000297107:p.Arg139His		153689339	NM_198321	B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	ENST00000297107.6	37	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963195	0.53507	.	.	ENSG00000164574	ENST00000425427;ENST00000297107;ENST00000377661	T;T;T	0.59364	0.27;0.27;0.27	5.28	2.08	0.27032	.	2.769860	0.00906	N	0.002404	T	0.38692	0.1050	N	0.11845	0.185	0.80722	D	1	P;P;P	0.50369	0.572;0.763;0.934	B;B;B	0.36959	0.231;0.076;0.237	T	0.31779	-0.9931	10	0.46703	T	0.11	.	7.1293	0.25490	0.0943:0.0:0.3079:0.5979	.	139;139;139	Q86SR1-2;Q86SR1;Q86SR1-3	.;GLT10_HUMAN;.	H	139	ENSP00000415210:R139H;ENSP00000297107:R139H;ENSP00000366889:R139H	ENSP00000297107:R139H	R	+	2	0	GALNT10	153689339	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.988000	0.40697	0.566000	0.29273	0.655000	0.94253	CGC		0.577	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321	
GEMIN5	25929	broad.mit.edu	37	5	154315574	154315574	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:154315574T>C	ENST00000285873.7	-	3	411	c.336A>G	c.(334-336)atA>atG	p.I112M		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	112					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)	p.I112M(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTAATGTTGATATCGTATGCT	0.328																																					p.I112M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A336G	5						.						62.0	58.0	60.0					5																	154315574		2203	4300	6503	154295767	SO:0001583	missense	25929	exon3			AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.336A>G	5.37:g.154315574T>C	ENSP00000285873:p.Ile112Met		154295767	NM_015465	Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	ENST00000285873.7	37	CCDS4330.1	.	.	.	.	.	.	.	.	.	.	T	16.49	3.138040	0.56936	.	.	ENSG00000082516	ENST00000285873	T	0.72051	-0.62	5.77	3.26	0.37387	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.048766	0.85682	D	0.000000	T	0.79209	0.4407	M	0.65975	2.015	0.40556	D	0.981165	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.79490	-0.1782	10	0.87932	D	0	-20.0903	7.4421	0.27190	0.1248:0.0:0.4404:0.4348	.	112;112	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	M	112	ENSP00000285873:I112M	ENSP00000285873:I112M	I	-	3	3	GEMIN5	154295767	0.970000	0.33590	1.000000	0.80357	0.886000	0.51366	-0.042000	0.12063	1.008000	0.39264	0.459000	0.35465	ATA		0.328	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1		
FNDC9	408263	broad.mit.edu	37	5	156770203	156770203	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:156770203C>T	ENST00000312349.4	-	2	529	c.342G>A	c.(340-342)tgG>tgA	p.W114*	CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000377576.3_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	114						integral component of membrane (GO:0016021)		p.W114*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CCATCAGCACCCAAAGGGAGA	0.582											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.W114X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G342A	5						.						72.0	73.0	73.0					5																	156770203		2203	4300	6503	156702781	SO:0001587	stop_gained	408263	exon2			BC022570	CCDS4337.1	5q33.3	2013-02-11	2011-01-25	2011-01-25	ENSG00000172568	ENSG00000172568		"""Fibronectin type III domain containing"""	33547	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 40"""	C5orf40			Standard	NM_001001343		Approved	MGC27121	uc003lwu.2	Q8TBE3	OTTHUMG00000130248	ENST00000312349.4:c.342G>A	5.37:g.156770203C>T	ENSP00000310594:p.Trp114*	1781	156702781	NM_001001343	A8K0Y6	Nonsense_Mutation	SNP	ENST00000312349.4	37	CCDS4337.1	.	.	.	.	.	.	.	.	.	.	C	33	5.263222	0.95399	.	.	ENSG00000172568	ENST00000312349;ENST00000520782	.	.	.	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.9057	15.4211	0.75011	0.0:1.0:0.0:0.0	.	.	.	.	X	114	.	ENSP00000310594:W114X	W	-	3	0	FNDC9	156702781	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.469000	0.73555	2.312000	0.78011	0.491000	0.48974	TGG		0.582	FNDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252573.2	NM_001001343	
ATP10B	23120	broad.mit.edu	37	5	160113192	160113192	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:160113192A>C	ENST00000327245.5	-	6	1210	c.364T>G	c.(364-366)Ttg>Gtg	p.L122V	ATP10B_ENST00000518411.1_5'Flank|CTC-529G1.1_ENST00000524198.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	122					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.L122V(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACAATGGCCAATGGTAACATG	0.453																																					p.L122V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T364G	5						.						100.0	93.0	95.0					5																	160113192		1921	4133	6054	160045770	SO:0001583	missense	23120	exon6			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.364T>G	5.37:g.160113192A>C	ENSP00000313600:p.Leu122Val		160045770	NM_025153	Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	A	9.655	1.142678	0.21205	.	.	ENSG00000118322	ENST00000327245	D	0.90620	-2.7	5.24	-4.76	0.03229	ATPase,  P-type, cytoplasmic transduction domain A (1);	0.101916	0.45606	D	0.000350	D	0.86548	0.5959	L	0.54908	1.71	0.25959	N	0.982648	B;B;P	0.41710	0.121;0.075;0.76	B;B;B	0.41440	0.173;0.071;0.357	T	0.79410	-0.1815	9	.	.	.	.	15.6051	0.76664	0.4092:0.0:0.5908:0.0	.	166;122;122	B4DHG1;O94823-2;O94823	.;.;AT10B_HUMAN	V	122	ENSP00000313600:L122V	.	L	-	1	2	ATP10B	160045770	0.008000	0.16893	0.081000	0.20488	0.750000	0.42670	0.106000	0.15354	-1.467000	0.01895	-1.676000	0.00740	TTG		0.453	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153	
ZNF622	90441	broad.mit.edu	37	5	16465299	16465299	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:16465299A>G	ENST00000308683.2	-	1	602	c.476T>C	c.(475-477)gTg>gCg	p.V159A		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	159					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of kinase activity (GO:0033674)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.V159A(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						ACCCACGGCCACGACATTCCT	0.637																																					p.V159A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T476C	5						.						70.0	74.0	73.0					5																	16465299		2203	4300	6503	16518299	SO:0001583	missense	90441	exon1			AY046059	CCDS3886.1	5p15.1	2012-10-05			ENSG00000173545	ENSG00000173545			30958	protein-coding gene	gene with protein product		608694				11802789, 12645566	Standard	NM_033414		Approved	MGC2485, MGC17552, ZPR9	uc003jfq.3	Q969S3	OTTHUMG00000090567	ENST00000308683.2:c.476T>C	5.37:g.16465299A>G	ENSP00000310042:p.Val159Ala		16518299	NM_033414		Missense_Mutation	SNP	ENST00000308683.2	37	CCDS3886.1	.	.	.	.	.	.	.	.	.	.	A	9.425	1.084092	0.20309	.	.	ENSG00000173545	ENST00000308683	.	.	.	4.28	-7.56	0.01322	.	1.961470	0.02400	N	0.080535	T	0.12347	0.0300	N	0.04043	-0.29	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33111	-0.9881	9	0.02654	T	1	.	6.1631	0.20376	0.2936:0.3955:0.3108:0.0	.	159	Q969S3	ZN622_HUMAN	A	159	.	ENSP00000310042:V159A	V	-	2	0	ZNF622	16518299	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.613000	0.05610	-1.116000	0.02969	0.528000	0.53228	GTG		0.637	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207105.1	NM_033414	
GABRA6	2559	broad.mit.edu	37	5	161113246	161113246	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:161113246G>A	ENST00000274545.5	+	2	482	c.49G>A	c.(49-51)Gcc>Acc	p.A17T	GABRA6_ENST00000523217.1_Missense_Mutation_p.A17T|GABRA6_ENST00000522269.1_3'UTR|RP11-348M17.2_ENST00000521984.1_RNA			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	17					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.A17T(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	GCTAGAAAATGCCCTAGGGAA	0.473										TCGA Ovarian(5;0.080)																											p.A17T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G49A	5						.						79.0	76.0	77.0					5																	161113246		2203	4300	6503	161045824	SO:0001583	missense	2559	exon2				CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.49G>A	5.37:g.161113246G>A	ENSP00000274545:p.Ala17Thr		161045824	NM_000811	A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	G	0.528	-0.859139	0.02610	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	T;T	0.80304	-1.36;-0.65	5.63	1.32	0.21799	.	0.313293	0.33691	N	0.004641	T	0.55114	0.1900	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35748	-0.9776	10	0.13853	T	0.58	.	6.0191	0.19618	0.2343:0.0:0.6359:0.1298	.	17	Q16445	GBRA6_HUMAN	T	17	ENSP00000274545:A17T;ENSP00000430527:A17T	ENSP00000274545:A17T	A	+	1	0	GABRA6	161045824	0.000000	0.05858	0.209000	0.23619	0.455000	0.32408	0.207000	0.17395	0.179000	0.19938	0.655000	0.94253	GCC		0.473	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2		
DOCK2	1794	broad.mit.edu	37	5	169435601	169435601	+	Splice_Site	SNP	A	A	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:169435601A>C	ENST00000256935.8	+	31	3253	c.3173A>C	c.(3172-3174)aAg>aCg	p.K1058T	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Splice_Site_p.K550T|DOCK2_ENST00000540750.1_Splice_Site_p.K119T	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1058	Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.K1058T(2)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCCTGAATAAGTAGGTTGCA	0.468																																					p.K1058T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A3173C	5						.						135.0	132.0	133.0					5																	169435601		2203	4300	6503	169368179	SO:0001630	splice_region_variant	1794	exon31			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3173+1A>C	5.37:g.169435601A>C			169368179	NM_004946	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	A	19.26	3.793522	0.70452	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.55052	0.54;0.54;0.54	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.70806	0.3266	M	0.76938	2.355	0.58432	D	0.999996	P;D	0.76494	0.915;0.999	P;D	0.78314	0.549;0.991	T	0.68176	-0.5478	10	0.14252	T	0.57	.	15.9958	0.80243	1.0:0.0:0.0:0.0	.	550;1058	E7ERW7;Q92608	.;DOCK2_HUMAN	T	1058;550;119	ENSP00000256935:K1058T;ENSP00000429283:K550T;ENSP00000438827:K119T	ENSP00000256935:K1058T	K	+	2	0	DOCK2	169368179	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.188000	0.69820	0.533000	0.62120	AAG		0.468	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	Missense_Mutation
SH3PXD2B	285590	broad.mit.edu	37	5	171766787	171766787	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:171766787G>A	ENST00000311601.5	-	13	1492	c.1322C>T	c.(1321-1323)cCc>cTc	p.P441L	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	441					adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)	p.P441L(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CACCTCGTGGGGCAGGGGAGC	0.637																																					p.P441L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1322T	5						.						54.0	59.0	57.0					5																	171766787		2203	4300	6503	171699392	SO:0001583	missense	285590	exon13			AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.1322C>T	5.37:g.171766787G>A	ENSP00000309714:p.Pro441Leu		171699392	NM_001017995	B6F0V2|Q9P2Q1	Missense_Mutation	SNP	ENST00000311601.5	37	CCDS34291.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.838255	0.71373	.	.	ENSG00000174705	ENST00000311601	T	0.31510	1.49	5.82	5.82	0.92795	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	T	0.51312	0.1667	L	0.59436	1.845	0.80722	D	1	D	0.71674	0.998	D	0.66196	0.942	T	0.36672	-0.9738	9	.	.	.	-21.9985	17.579	0.87960	0.0:0.0:1.0:0.0	.	441	A1X283	SPD2B_HUMAN	L	441	ENSP00000309714:P441L	.	P	-	2	0	SH3PXD2B	171699392	1.000000	0.71417	0.980000	0.43619	0.369000	0.29798	9.824000	0.99380	2.756000	0.94617	0.561000	0.74099	CCC		0.637	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	NM_017963	
ZNF346	23567	broad.mit.edu	37	5	176468801	176468801	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:176468801T>C	ENST00000358149.3	+	3	345	c.302T>C	c.(301-303)gTg>gCg	p.V101A	ZNF346_ENST00000503039.1_Missense_Mutation_p.V126A|ZNF346_ENST00000506693.1_Intron|ZNF346_ENST00000503425.1_Intron|ZNF346_ENST00000512315.1_Intron|ZNF346_ENST00000511834.1_Missense_Mutation_p.V101A|ZNF346_ENST00000261948.4_Missense_Mutation_p.V126A	NM_012279.2	NP_036411.1	Q9UL40	ZN346_HUMAN	zinc finger protein 346	101					positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.V101A(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCAACAAAGTGAAGAGATAC	0.408																																					p.V101A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T302C	5						.						62.0	57.0	59.0					5																	176468801		2203	4300	6503	176401407	SO:0001583	missense	23567	exon3			AF083340	CCDS4409.1	5q35.3	2012-10-05			ENSG00000113761	ENSG00000113761			16403	protein-coding gene	gene with protein product		605308				10488071	Standard	NM_012279		Approved	JAZ, Zfp346	uc003mfi.3	Q9UL40	OTTHUMG00000130848	ENST00000358149.3:c.302T>C	5.37:g.176468801T>C	ENSP00000350869:p.Val101Ala		176401407	NM_012279	B7Z367|Q68CV9|Q6ZMW1	Missense_Mutation	SNP	ENST00000358149.3	37	CCDS4409.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.824594	0.90955	.	.	ENSG00000113761	ENST00000358149;ENST00000261948;ENST00000511834;ENST00000503039	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.65	5.65	0.86999	Zinc finger, U1-type (1);	0.000000	0.85682	D	0.000000	T	0.58892	0.2154	L	0.34521	1.04	0.54753	D	0.999981	D;D	0.69078	0.997;0.993	D;D	0.75020	0.985;0.92	T	0.62374	-0.6868	10	0.72032	D	0.01	.	15.8773	0.79173	0.0:0.0:0.0:1.0	.	126;101	Q9UL40-2;Q9UL40	.;ZN346_HUMAN	A	101;126;101;126	ENSP00000350869:V101A;ENSP00000261948:V126A;ENSP00000425725:V101A;ENSP00000424495:V126A	ENSP00000261948:V126A	V	+	2	0	ZNF346	176401407	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.201000	0.72124	2.149000	0.67028	0.533000	0.62120	GTG		0.408	ZNF346-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253415.2	NM_012279	
FGFR4	2264	broad.mit.edu	37	5	176518721	176518721	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:176518721C>T	ENST00000292408.4	+	6	884	c.639C>T	c.(637-639)agC>agT	p.S213S	FGFR4_ENST00000393648.2_Silent_p.S213S|FGFR4_ENST00000393637.1_Silent_p.S213S|FGFR4_ENST00000502906.1_Silent_p.S213S|FGFR4_ENST00000292410.3_Silent_p.S213S	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	213	Ig-like C2-type 2.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)	p.S213S(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	TGATGGAGAGCGTGGTGCCCT	0.637										TSP Lung(9;0.080)																											p.S213S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C639T	5						.						85.0	71.0	76.0					5																	176518721		2203	4300	6503	176451327	SO:0001819	synonymous_variant	2264	exon6			AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.639C>T	5.37:g.176518721C>T			176451327	NM_213647	G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Silent	SNP	ENST00000292408.4	37	CCDS4410.1																																																																																				0.637	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1		
F12	2161	broad.mit.edu	37	5	176833017	176833017	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:176833017T>C	ENST00000253496.3	-	3	209	c.161A>G	c.(160-162)cAc>cGc	p.H54R	F12_ENST00000514943.1_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	54	Fibronectin type-II. {ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)	p.H54R(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Ethanolamine Oleate(DB06689)	CAGCTGCCGGTGGTACTGGAA	0.602									Hereditary Angioedema																												p.H54R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A161G	5						.						93.0	96.0	95.0					5																	176833017		2203	4300	6503	176765623	SO:0001583	missense	2161	exon3	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.161A>G	5.37:g.176833017T>C	ENSP00000253496:p.His54Arg		176765623	NM_000505	P78339	Missense_Mutation	SNP	ENST00000253496.3	37	CCDS34302.1	.	.	.	.	.	.	.	.	.	.	T	3.306	-0.141762	0.06669	.	.	ENSG00000131187	ENST00000253496	T	0.44083	0.93	5.31	-0.247	0.13019	Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);	0.801566	0.10952	N	0.615939	T	0.20088	0.0483	N	0.04297	-0.235	0.36112	D	0.844858	B	0.09022	0.002	B	0.06405	0.002	T	0.10132	-1.0643	10	0.41790	T	0.15	.	9.1862	0.37172	0.0:0.3562:0.0:0.6438	.	54	P00748	FA12_HUMAN	R	54	ENSP00000253496:H54R	ENSP00000253496:H54R	H	-	2	0	F12	176765623	0.881000	0.30235	0.315000	0.25238	0.461000	0.32589	1.115000	0.31209	0.048000	0.15891	-0.353000	0.07706	CAC		0.602	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1		
DDX41	51428	broad.mit.edu	37	5	176943127	176943127	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:176943127C>A	ENST00000507955.1	-	4	889	c.366G>T	c.(364-366)gaG>gaT	p.E122D	DDX41_ENST00000506965.1_5'UTR	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	122					apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E122D(1)				all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TACCTCGGCCCTCGGCAACAC	0.512																																					p.E122D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G366T	5						.						183.0	187.0	186.0					5																	176943127		2203	4300	6503	176875733	SO:0001583	missense	51428	exon4			AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"""DEAD-boxes"""	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.366G>T	5.37:g.176943127C>A	ENSP00000422753:p.Glu122Asp		176875733	NM_016222	B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	De_novo_Start_OutOfFrame	SNP	ENST00000507955.1	37	CCDS4427.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257454	0.39896	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	T;T	0.28454	1.61;1.62	5.47	1.26	0.21427	.	0.062791	0.64402	D	0.000007	T	0.23886	0.0578	L	0.53617	1.68	0.53005	D	0.999965	B	0.15141	0.012	B	0.13407	0.009	T	0.09335	-1.0679	10	0.13470	T	0.59	-30.3933	9.4409	0.38668	0.0:0.623:0.0:0.377	.	122	Q9UJV9	DDX41_HUMAN	D	140;122	ENSP00000330349:E140D;ENSP00000422753:E122D	ENSP00000330349:E140D	E	-	3	2	DDX41	176875733	0.959000	0.32827	0.996000	0.52242	0.994000	0.84299	0.289000	0.18957	0.158000	0.19367	0.561000	0.74099	GAG		0.512	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253432.2	NM_016222	
FAM153A	285596	broad.mit.edu	37	5	177163583	177163583	+	Missense_Mutation	SNP	C	C	T	rs143733594		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:177163583C>T	ENST00000440605.3	-	11	713	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	FAM153A_ENST00000510276.1_Missense_Mutation_p.E144K|FAM153A_ENST00000393518.3_Intron|FAM153A_ENST00000513554.1_Intron	NM_173663.3	NP_775934.3	Q9UHL3	F153A_HUMAN	family with sequence similarity 153, member A	144								p.E144K(3)		kidney(6)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	11	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TACGTACATTCGGCCAGTGTG	0.458																																					p.E144K												.	.	3	Substitution - Missense(3)	large_intestine(1)|prostate(1)|skin(1)	c.G430A	5						.	C	LYS/GLU	0,4320		0,0,2160	99.0	80.0	86.0		430	0.9	0.0	5	dbSNP_134	86	1,8215		0,1,4107	no	missense	FAM153A	NM_173663.3	56	0,1,6267	TT,TC,CC		0.0122,0.0,0.0080	possibly-damaging	144/311	177163583	1,12535	2160	4108	6268	177096189	SO:0001583	missense	285596	exon11			AB018295	CCDS34305.1	5q35.3	2010-05-12			ENSG00000170074	ENSG00000170074			29940	protein-coding gene	gene with protein product	"""NY REN 7 antigen"""					10508479, 9872452	Standard	NM_173663		Approved	NY-REN-7	uc003mic.3	Q9UHL3	OTTHUMG00000163394	ENST00000440605.3:c.430G>A	5.37:g.177163583C>T	ENSP00000411506:p.Glu144Lys		177096189	NM_173663	A8K0F3|O94852	Missense_Mutation	SNP	ENST00000440605.3	37	CCDS34305.1	.	.	.	.	.	.	.	.	.	.	.	12.49	1.954851	0.34471	0.0	1.22E-4	ENSG00000170074	ENST00000440977;ENST00000510276;ENST00000440605	.	.	.	0.885	0.885	0.19188	.	.	.	.	.	T	0.11793	0.0287	N	0.03608	-0.345	0.09310	N	1	P	0.47191	0.891	P	0.46049	0.502	T	0.08953	-1.0697	8	0.41790	T	0.15	.	3.0151	0.06057	0.0:0.3039:0.0:0.6961	.	144	Q9UHL3	F153A_HUMAN	K	221;144;144	.	ENSP00000353887:E144K	E	-	1	0	FAM153A	177096189	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.440000	0.02412	-0.128000	0.11641	-1.342000	0.01247	GAA		0.458	FAM153A-022	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417242.1	NM_173663	
ADAMTS2	9509	broad.mit.edu	37	5	178557032	178557032	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:178557032T>C	ENST00000251582.7	-	16	2459	c.2358A>G	c.(2356-2358)aaA>aaG	p.K786K		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	786	Spacer.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.K786K(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CAATGAAGGTTTTGGAACTGG	0.572																																					p.K786K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2358G	5						.						124.0	111.0	115.0					5																	178557032		2203	4300	6503	178489638	SO:0001819	synonymous_variant	9509	exon16			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2358A>G	5.37:g.178557032T>C			178489638	NM_014244		Silent	SNP	ENST00000251582.7	37	CCDS4444.1																																																																																				0.572	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244	
CANX	821	broad.mit.edu	37	5	179136977	179136977	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:179136977C>T	ENST00000247461.4	+	7	832	c.632C>T	c.(631-633)aCg>aTg	p.T211M	CANX_ENST00000503126.1_3'UTR|CANX_ENST00000415618.2_Missense_Mutation_p.T246M|CANX_ENST00000452673.2_Missense_Mutation_p.T211M|CANX_ENST00000504734.1_Missense_Mutation_p.T211M|CANX_ENST00000512607.2_Missense_Mutation_p.T103M	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	211					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|clathrin-mediated endocytosis (GO:0072583)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein secretion (GO:0009306)|synaptic vesicle endocytosis (GO:0048488)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ribosome (GO:0005840)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|poly(A) RNA binding (GO:0044822)	p.T211M(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Antihemophilic Factor(DB00025)|Tenecteplase(DB00031)	AACCCCAAAACGGGTATCTAT	0.383																																					p.T211M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C632T	5						.						134.0	136.0	135.0					5																	179136977		2203	4300	6503	179069583	SO:0001583	missense	821	exon7			L18887	CCDS4447.1	5q35	2008-07-18			ENSG00000127022	ENSG00000127022			1473	protein-coding gene	gene with protein product	"""major histocompatibility complex class I antigen-binding protein p88"""	114217				1326756, 8136357	Standard	NM_001746		Approved	CNX, IP90, P90	uc003mkl.3	P27824	OTTHUMG00000130910	ENST00000247461.4:c.632C>T	5.37:g.179136977C>T	ENSP00000247461:p.Thr211Met		179069583	NM_001024649	B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3	Missense_Mutation	SNP	ENST00000247461.4	37	CCDS4447.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.07|18.07	3.540512|3.540512	0.65085|0.65085	.|.	.|.	ENSG00000127022|ENSG00000127022	ENST00000508787|ENST00000504734;ENST00000415618;ENST00000452673;ENST00000247461;ENST00000502673;ENST00000506654;ENST00000512607;ENST00000354394;ENST00000376953	.|T;T;T;T;T;T;T	.|0.53206	.|0.63;0.63;0.63;0.63;0.63;0.63;0.63	5.48|5.48	4.61|4.61	0.57282|0.57282	.|Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75012|0.75012	0.3792|0.3792	M|M	0.92738|0.92738	3.34|3.34	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.79108	.|0.986;0.992;0.952	T|T	0.82088|0.82088	-0.0630|-0.0630	5|10	.|0.87932	.|D	.|0	-15.4397|-15.4397	14.4224|14.4224	0.67193|0.67193	0.0:0.9289:0.0:0.0711|0.0:0.9289:0.0:0.0711	.|.	.|246;147;211	.|B4DGP8;Q6ZP56;P27824	.|.;.;CALX_HUMAN	W|M	94|211;246;211;211;147;103;103;202;147	.|ENSP00000424063:T211M;ENSP00000394817:T246M;ENSP00000391646:T211M;ENSP00000247461:T211M;ENSP00000421107:T147M;ENSP00000426555:T103M;ENSP00000423588:T103M	.|ENSP00000247461:T211M	R|T	+|+	1|2	2|0	CANX|CANX	179069583|179069583	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.639000|0.639000	0.38242|0.38242	4.886000|4.886000	0.63149|0.63149	1.316000|1.316000	0.45131|0.45131	-0.150000|-0.150000	0.13652|0.13652	CGG|ACG		0.383	CANX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253500.2	NM_001024649	
IRX2	153572	broad.mit.edu	37	5	2749864	2749864	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:2749864C>T	ENST00000382611.6	-	2	535	c.287G>A	c.(286-288)gGc>gAc	p.G96D	IRX2_ENST00000502957.1_5'UTR|C5orf38_ENST00000457752.2_5'Flank|C5orf38_ENST00000515640.1_5'Flank|C5orf38_ENST00000397835.4_5'Flank|C5orf38_ENST00000334000.3_5'Flank|C5orf38_ENST00000505778.1_5'Flank|IRX2_ENST00000302057.5_Missense_Mutation_p.G96D	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	96					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.G96D(1)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		GCTGATGGCGCCGGTCATGCC	0.682																																					p.G96D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G287A	5						.						58.0	59.0	59.0					5																	2749864		2203	4299	6502	2802864	SO:0001583	missense	153572	exon2			AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.287G>A	5.37:g.2749864C>T	ENSP00000372056:p.Gly96Asp		2802864	NM_001134222	Q68A19|Q7Z2I7	Missense_Mutation	SNP	ENST00000382611.6	37	CCDS3868.1	.	.	.	.	.	.	.	.	.	.	C	33	5.247423	0.95305	.	.	ENSG00000170561	ENST00000382611;ENST00000302057;ENST00000502957	T;T;T	0.70399	-0.3;-0.3;-0.48	5.03	5.03	0.67393	.	0.048451	0.85682	D	0.000000	D	0.82554	0.5062	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.84339	0.0526	10	0.66056	D	0.02	-20.919	18.3714	0.90408	0.0:1.0:0.0:0.0	.	96	Q9BZI1	IRX2_HUMAN	D	96;96;3	ENSP00000372056:G96D;ENSP00000307006:G96D;ENSP00000426151:G3D	ENSP00000307006:G96D	G	-	2	0	IRX2	2802864	1.000000	0.71417	0.997000	0.53966	0.943000	0.58893	4.550000	0.60733	2.343000	0.79666	0.655000	0.94253	GGC		0.682	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2		
IRX1	79192	broad.mit.edu	37	5	3599714	3599714	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:3599714G>A	ENST00000302006.3	+	2	704	c.652G>A	c.(652-654)Gag>Aag	p.E218K	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	218					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.E218K(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GGAGAAGGCCGAGGACGACGA	0.612																																					p.E218K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G652A	5						.						66.0	60.0	62.0					5																	3599714		2203	4300	6503	3652714	SO:0001583	missense	79192	exon2			U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.652G>A	5.37:g.3599714G>A	ENSP00000305244:p.Glu218Lys		3652714	NM_024337	Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.240787	0.58995	.	.	ENSG00000170549	ENST00000302006	T	0.60672	0.17	4.71	4.71	0.59529	.	0.160059	0.56097	D	0.000037	T	0.48572	0.1507	L	0.54323	1.7	0.80722	D	1	P	0.40681	0.727	B	0.27262	0.078	T	0.53507	-0.8429	10	0.31617	T	0.26	.	17.6818	0.88246	0.0:0.0:1.0:0.0	.	218	P78414	IRX1_HUMAN	K	218	ENSP00000305244:E218K	ENSP00000305244:E218K	E	+	1	0	IRX1	3652714	1.000000	0.71417	0.995000	0.50966	0.913000	0.54294	7.659000	0.83766	2.125000	0.65367	0.655000	0.94253	GAG		0.612	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337	
ICE1	23379	broad.mit.edu	37	5	5464045	5464045	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:5464045A>G	ENST00000296564.7	+	13	4820	c.4598A>G	c.(4597-4599)cAg>cGg	p.Q1533R		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1533					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)	p.Q1533R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TTCGAGACTCAGATTGTTGCG	0.363																																					p.Q1533R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4598G	5						.						45.0	42.0	43.0					5																	5464045		1843	4094	5937	5517045	SO:0001583	missense	23379	exon13																														ENST00000296564.7:c.4598A>G	5.37:g.5464045A>G	ENSP00000296564:p.Gln1533Arg		5517045	NM_015325	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	A	12.69	2.014130	0.35511	.	.	ENSG00000164151	ENST00000296564	T	0.10099	2.91	5.27	0.88	0.19161	.	.	.	.	.	T	0.09862	0.0242	N	0.08118	0	0.09310	N	1	D	0.54047	0.964	P	0.52481	0.7	T	0.35101	-0.9802	9	0.66056	D	0.02	-0.05	10.9718	0.47444	0.5245:0.4754:0.0:0.0	.	1533	Q9Y2F5	K0947_HUMAN	R	1533	ENSP00000296564:Q1533R	ENSP00000296564:Q1533R	Q	+	2	0	KIAA0947	5517045	0.001000	0.12720	0.010000	0.14722	0.857000	0.48899	0.855000	0.27805	0.260000	0.21731	0.377000	0.23210	CAG		0.363	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1		
ADCY2	108	broad.mit.edu	37	5	7709414	7709414	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:7709414T>G	ENST00000338316.4	+	10	1581	c.1492T>G	c.(1492-1494)Ttg>Gtg	p.L498V	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Missense_Mutation_p.L318V	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	498					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.L498V(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GACCCGGTACTTGGAGTCCTG	0.607																																					p.L498V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1492G	5						.						79.0	63.0	69.0					5																	7709414		2203	4300	6503	7762414	SO:0001583	missense	108	exon10			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1492T>G	5.37:g.7709414T>G	ENSP00000342952:p.Leu498Val		7762414	NM_020546	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	t	18.61	3.660667	0.67586	.	.	ENSG00000078295	ENST00000338316;ENST00000537121	T;T	0.78595	-1.19;-1.19	5.62	-2.79	0.05841	.	0.000000	0.64402	D	0.000002	D	0.84101	0.5398	M	0.63843	1.955	0.37618	D	0.921193	D;D	0.69078	0.973;0.997	P;D	0.76575	0.889;0.988	D	0.84038	0.0363	10	0.52906	T	0.07	.	17.0404	0.86488	0.0:0.7468:0.0:0.2532	.	318;498	B7Z2C1;Q08462	.;ADCY2_HUMAN	V	498;318	ENSP00000342952:L498V;ENSP00000444803:L318V	ENSP00000342952:L498V	L	+	1	2	ADCY2	7762414	1.000000	0.71417	0.973000	0.42090	0.993000	0.82548	1.168000	0.31859	-0.661000	0.05345	-0.378000	0.06908	TTG		0.607	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546	
SEMA5A	9037	broad.mit.edu	37	5	9136619	9136619	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:9136619A>G	ENST00000382496.5	-	13	2261	c.1596T>C	c.(1594-1596)tgT>tgC	p.C532C		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	532					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)	p.C532C(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CACTCACCGGACACGCAGAGA	0.572																																					p.C532C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1596C	5						.						95.0	74.0	81.0					5																	9136619		2203	4300	6503	9189619	SO:0001819	synonymous_variant	9037	exon13			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1596T>C	5.37:g.9136619A>G			9189619	NM_003966	D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	37	CCDS3875.1																																																																																				0.572	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2		
PRDM9	56979	broad.mit.edu	37	5	23517994	23517994	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:23517994A>G	ENST00000296682.3	+	5	488	c.306A>G	c.(304-306)aaA>aaG	p.K102K		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	102					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.K102K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TTTTAGTCAAACCTCCTTGGA	0.353										HNSCC(3;0.000094)																											p.K102K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A306G	5						.						196.0	184.0	188.0					5																	23517994		1882	4106	5988	23553751	SO:0001819	synonymous_variant	56979	exon5			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.306A>G	5.37:g.23517994A>G			23553751	NM_020227	B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	CCDS43307.1																																																																																				0.353	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227	
PRDM9	56979	broad.mit.edu	37	5	23526487	23526487	+	Silent	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:23526487C>A	ENST00000296682.3	+	11	1472	c.1290C>A	c.(1288-1290)ccC>ccA	p.P430P		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	430					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.P430P(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CAGAGAATCCCTGCCCAGGGG	0.453										HNSCC(3;0.000094)																											p.P430P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1290A	5						.						95.0	92.0	93.0					5																	23526487		2203	4300	6503	23562244	SO:0001819	synonymous_variant	56979	exon11			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1290C>A	5.37:g.23526487C>A			23562244	NM_020227	B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	CCDS43307.1																																																																																				0.453	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227	
DROSHA	29102	broad.mit.edu	37	5	31527012	31527012	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:31527012T>C	ENST00000511367.2	-	4	272	c.28A>G	c.(28-30)Atg>Gtg	p.M10V	DROSHA_ENST00000513349.1_Missense_Mutation_p.M10V|DROSHA_ENST00000504361.1_5'UTR|DROSHA_ENST00000442743.1_Missense_Mutation_p.M10V|DROSHA_ENST00000344624.3_Missense_Mutation_p.M10V	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	10	Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)	p.M10V(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						TGGAACGACATTCTGTGACTT	0.458																																					p.M10V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A28G	5						.						37.0	36.0	36.0					5																	31527012		1888	4112	6000	31562769	SO:0001583	missense	29102	exon4			AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.28A>G	5.37:g.31527012T>C	ENSP00000425979:p.Met10Val		31562769	NM_013235	E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	T	14.28	2.486938	0.44249	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188;ENST00000507438	T;T;T;T;T	0.55760	1.03;1.03;0.54;0.54;0.5	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.57519	0.2059	N	0.24115	0.695	0.54753	D	0.99998	P;B;B	0.52577	0.954;0.323;0.323	D;B;B	0.63597	0.916;0.267;0.267	T	0.63400	-0.6646	10	0.87932	D	0	-13.5037	14.1946	0.65662	0.0:0.0:0.0:1.0	.	10;10;10	Q9NRR4-2;E7EMP9;Q9NRR4	.;.;RNC_HUMAN	V	10;10;10;10;3;3;10	ENSP00000425979:M10V;ENSP00000339845:M10V;ENSP00000409335:M10V;ENSP00000424161:M10V;ENSP00000430921:M10V	ENSP00000265075:M3V	M	-	1	0	DROSHA	31562769	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	6.610000	0.74178	1.764000	0.52075	0.379000	0.24179	ATG		0.458	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235	
PDZD2	23037	broad.mit.edu	37	5	32088772	32088772	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:32088772G>C	ENST00000438447.1	+	20	5606	c.5218G>C	c.(5218-5220)Gat>Cat	p.D1740H	PDZD2_ENST00000282493.3_Missense_Mutation_p.D1740H			O15018	PDZD2_HUMAN	PDZ domain containing 2	1740					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.D1740H(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGACCTGCTAGATGACGAAAC	0.473																																					p.D1740H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5218C	5						.						132.0	107.0	115.0					5																	32088772		2203	4300	6503	32124529	SO:0001583	missense	23037	exon19			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.5218G>C	5.37:g.32088772G>C	ENSP00000402033:p.Asp1740His		32124529	NM_178140	Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696590	0.48202	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.07688	3.17;3.17	5.84	0.992	0.19819	.	1.084740	0.07000	N	0.823234	T	0.09113	0.0225	L	0.43152	1.355	0.09310	N	1	P	0.49961	0.93	P	0.44518	0.452	T	0.32981	-0.9886	10	0.38643	T	0.18	.	4.8406	0.13489	0.3139:0.1515:0.5345:0.0	.	1740	O15018	PDZD2_HUMAN	H	1740;1541;1740	ENSP00000402033:D1740H;ENSP00000282493:D1740H	ENSP00000282493:D1740H	D	+	1	0	PDZD2	32124529	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.417000	0.21214	0.389000	0.25086	-0.258000	0.10820	GAT		0.473	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1		
TTC23L	153657	broad.mit.edu	37	5	34869071	34869071	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:34869071C>T	ENST00000505624.1	+	8	1005	c.902C>T	c.(901-903)gCg>gTg	p.A301V	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	301								p.A301V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						GAAATGAGTGCGTTACTGGCC	0.468																																					p.A301V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C902T	5						.						67.0	63.0	64.0					5																	34869071		1934	4148	6082	34904828	SO:0001583	missense	153657	exon8				CCDS54840.1	5p13.2	2008-07-14			ENSG00000205838	ENSG00000205838			26355	protein-coding gene	gene with protein product						12477932	Standard	NM_144725		Approved	FLJ25439	uc003jiu.3	Q6PF05	OTTHUMG00000162020	ENST00000505624.1:c.902C>T	5.37:g.34869071C>T	ENSP00000422188:p.Ala301Val		34904828	NM_144725	Q6RGS4|Q8N7R3|Q96LJ2	Missense_Mutation	SNP	ENST00000505624.1	37	CCDS54840.1	.	.	.	.	.	.	.	.	.	.	C	6.132	0.392507	0.11638	.	.	ENSG00000205838	ENST00000505624;ENST00000535797	T	0.73789	-0.78	4.89	4.01	0.46588	Tetratricopeptide-like helical (1);	0.585904	0.14869	U	0.293621	T	0.61135	0.2323	L	0.60455	1.87	0.09310	N	1	P	0.48589	0.912	B	0.37144	0.242	T	0.54022	-0.8355	10	0.15066	T	0.55	-19.7539	5.5705	0.17194	0.0:0.7558:0.0:0.2442	.	301	Q6PF05	TT23L_HUMAN	V	301	ENSP00000422188:A301V	ENSP00000422188:A301V	A	+	2	0	TTC23L	34904828	0.012000	0.17670	0.013000	0.15412	0.315000	0.28087	2.198000	0.42705	2.681000	0.91329	0.655000	0.94253	GCG		0.468	TTC23L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366819.1	NM_144725	
AGXT2	64902	broad.mit.edu	37	5	34998864	34998864	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:34998864C>T	ENST00000231420.6	-	14	1705	c.1505G>A	c.(1504-1506)cGt>cAt	p.R502H		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	502					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)	p.R502H(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	TAAGGCAGAACGAAATACTTC	0.383																																					p.R502H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1505A	5						.						223.0	200.0	208.0					5																	34998864		2203	4300	6503	35034621	SO:0001583	missense	64902	exon14			AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"""beta-alanine-pyruvate aminotransferase"", ""beta-ALAAT II"""	612471	"""alanine-glyoxylate aminotransferase 2"""			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.1505G>A	5.37:g.34998864C>T	ENSP00000231420:p.Arg502His		35034621	NM_031900	B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Missense_Mutation	SNP	ENST00000231420.6	37	CCDS3908.1	.	.	.	.	.	.	.	.	.	.	c	6.239	0.412184	0.11812	.	.	ENSG00000113492	ENST00000231420	T	0.20598	2.06	5.69	-3.83	0.04269	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.295122	0.42172	N	0.000757	T	0.13713	0.0332	L	0.33137	0.985	0.09310	N	0.999992	B;B	0.09022	0.001;0.002	B;B	0.04013	0.001;0.0	T	0.17684	-1.0361	10	0.54805	T	0.06	-6.4144	12.4132	0.55480	0.0:0.2748:0.0:0.7252	.	427;502	E9PDL7;Q9BYV1	.;AGT2_HUMAN	H	502	ENSP00000231420:R502H	ENSP00000231420:R502H	R	-	2	0	AGXT2	35034621	0.017000	0.18338	0.039000	0.18376	0.044000	0.14063	-0.265000	0.08644	-0.656000	0.05380	-1.777000	0.00654	CGT		0.383	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900	
AGXT2	64902	broad.mit.edu	37	5	35047959	35047959	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	A	Unknown	Valid	Germline	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:35047959G>A	ENST00000231420.6	-	1	239	c.39C>T	c.(37-39)tgC>tgT	p.C13C		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	13					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	AAGTGACCAGGCACAAGGGTC	0.547																																					p.C13C												.	.	0			c.C39T	5						.						73.0	65.0	68.0					5																	35047959		2203	4300	6503	35083716	SO:0001819	synonymous_variant	64902	exon1			AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"""beta-alanine-pyruvate aminotransferase"", ""beta-ALAAT II"""	612471	"""alanine-glyoxylate aminotransferase 2"""			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.39C>T	5.37:g.35047959G>A			35083716	NM_031900	B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Silent	SNP	ENST00000231420.6	37	CCDS3908.1																																																																																				0.547	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900	
NIPBL	25836	broad.mit.edu	37	5	36985263	36985263	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:36985263T>C	ENST00000282516.8	+	10	2480	c.1981T>C	c.(1981-1983)Tgc>Cgc	p.C661R	NIPBL_ENST00000448238.2_Missense_Mutation_p.C661R|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	661					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.C661R(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AACAACTGAATGCAAACAAAA	0.353																																					p.C661R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1981C	5						.						97.0	97.0	97.0					5																	36985263		2203	4300	6503	37021020	SO:0001583	missense	25836	exon10			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.1981T>C	5.37:g.36985263T>C	ENSP00000282516:p.Cys661Arg		37021020	NM_015384	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	T	2.473	-0.321390	0.05386	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.92495	-3.05;-3.05	5.98	0.543	0.17179	.	0.500084	0.21007	N	0.081760	T	0.77718	0.4172	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.63028	-0.6728	10	0.16420	T	0.52	.	5.3888	0.16231	0.1662:0.3002:0.0:0.5336	.	661;661	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	R	661	ENSP00000282516:C661R;ENSP00000406266:C661R	ENSP00000282516:C661R	C	+	1	0	NIPBL	37021020	0.000000	0.05858	0.941000	0.38009	0.418000	0.31294	-0.267000	0.08619	0.163000	0.19507	0.528000	0.53228	TGC		0.353	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384	
C5orf42	65250	broad.mit.edu	37	5	37169009	37169009	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:37169009G>A	ENST00000508244.1	-	33	7210	c.7117C>T	c.(7117-7119)Cca>Tca	p.P2373S	C5orf42_ENST00000425232.2_Missense_Mutation_p.P2373S|C5orf42_ENST00000274258.7_Missense_Mutation_p.P1253S			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2373						integral component of membrane (GO:0016021)		p.P1253S(1)|p.P2373S(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GAGGTTGATGGAAACATATTA	0.388																																					p.P2373S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C7117T	5						.						199.0	198.0	198.0					5																	37169009		2203	4300	6503	37204766	SO:0001583	missense	65250	exon34				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.7117C>T	5.37:g.37169009G>A	ENSP00000421690:p.Pro2373Ser		37204766	NM_023073	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	G	2.687	-0.274012	0.05679	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.21031	2.03;2.03;2.04;2.03	5.11	-0.408	0.12381	.	0.736301	0.11759	N	0.532265	T	0.04363	0.0120	N	0.00521	-1.4	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.42565	-0.9444	10	0.14252	T	0.57	.	4.4144	0.11448	0.4089:0.1888:0.4023:0.0	.	2373;1253	E9PH94;Q9H799	.;CE042_HUMAN	S	2373;2373;1253;1421;1253	ENSP00000421690:P2373S;ENSP00000389014:P2373S;ENSP00000274258:P1253S;ENSP00000424223:P1421S	ENSP00000274258:P1253S	P	-	1	0	C5orf42	37204766	1.000000	0.71417	0.002000	0.10522	0.131000	0.20780	1.294000	0.33365	0.032000	0.15435	-0.311000	0.09066	CCA		0.388	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073	
LIFR	3977	broad.mit.edu	37	5	38484963	38484963	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:38484963T>C	ENST00000263409.4	-	18	2667	c.2505A>G	c.(2503-2505)ggA>ggG	p.G835G	LIFR_ENST00000453190.2_Silent_p.G835G	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	835					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)	p.G835G(2)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CAATAATTAATCCCACAGCTG	0.378			T	PLAG1	salivary adenoma																																p.G835G	Melanoma(13;4 730 6426 9861 34751)		Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A2505G	5						.						67.0	63.0	65.0					5																	38484963		2203	4300	6503	38520720	SO:0001819	synonymous_variant	3977	exon18			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.2505A>G	5.37:g.38484963T>C			38520720	NM_001127671	Q6LCD9	Silent	SNP	ENST00000263409.4	37	CCDS3927.1																																																																																				0.378	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310	
FYB	2533	broad.mit.edu	37	5	39126231	39126231	+	Intron	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:39126231T>C	ENST00000351578.6	-	11	2098				FYB_ENST00000515010.1_Intron|FYB_ENST00000505428.1_Silent_p.T638T|FYB_ENST00000512982.1_Silent_p.T638T|FYB_ENST00000540520.1_Silent_p.T648T	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein						immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)	p.T648T(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GAACCTGTAGTGTGGAGCTTT	0.383																																					p.T638T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1914G	5						.						91.0	83.0	85.0					5																	39126231		1932	4149	6081	39161988	SO:0001627	intron_variant	2533	exon12			U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.1907+1611A>G	5.37:g.39126231T>C			39161988	NM_001465	A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Silent	SNP	ENST00000351578.6	37	CCDS47200.1																																																																																				0.383	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465	
FYB	2533	broad.mit.edu	37	5	39202557	39202557	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:39202557G>A	ENST00000351578.6	-	2	696	c.506C>T	c.(505-507)gCg>gTg	p.A169V	FYB_ENST00000515010.1_Missense_Mutation_p.A169V|FYB_ENST00000505428.1_Missense_Mutation_p.A169V|FYB_ENST00000512982.1_Missense_Mutation_p.A169V|FYB_ENST00000540520.1_Missense_Mutation_p.A179V	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	169					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)	p.A169V(2)|p.A179V(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TTTGGGAAACGCTTGCTTCTG	0.488																																					p.A169V												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C506T	5						.						125.0	122.0	123.0					5																	39202557		1860	4112	5972	39238314	SO:0001583	missense	2533	exon2			U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.506C>T	5.37:g.39202557G>A	ENSP00000316460:p.Ala169Val		39238314	NM_199335	A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	ENST00000351578.6	37	CCDS47200.1	.	.	.	.	.	.	.	.	.	.	G	4.850	0.158018	0.09236	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542;ENST00000510188	T;T;T;T;T;T	0.41758	2.06;2.06;2.05;2.05;2.08;0.99	5.97	-10.7	0.00240	.	1.395530	0.04783	N	0.430115	T	0.16041	0.0386	N	0.05124	-0.11	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.10019	-1.0648	10	0.19147	T	0.46	1.5965	7.3709	0.26800	0.2071:0.2355:0.4825:0.0749	.	179;169	B4DLN2;O15117	.;FYB_HUMAN	V	169;169;169;169;179;169;169	ENSP00000316460:A169V;ENSP00000426346:A169V;ENSP00000425845:A169V;ENSP00000427114:A169V;ENSP00000442840:A179V;ENSP00000426597:A169V	ENSP00000316460:A169V	A	-	2	0	FYB	39238314	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.776000	0.04674	-2.556000	0.00476	-0.137000	0.14449	GCG		0.488	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465	
PLCXD3	345557	broad.mit.edu	37	5	41313861	41313861	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:41313861G>A	ENST00000377801.3	-	3	898	c.824C>T	c.(823-825)gCc>gTc	p.A275V	PLCXD3_ENST00000328457.3_Missense_Mutation_p.A275V			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	275					lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)	p.A275V(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CTGCATCATGGCAGGAAGAGC	0.433																																					p.A275V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C824T	5						.						64.0	62.0	63.0					5																	41313861		2203	4300	6503	41349618	SO:0001583	missense	345557	exon3				CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.824C>T	5.37:g.41313861G>A	ENSP00000367032:p.Ala275Val		41349618	NM_001005473	A6NL04	Missense_Mutation	SNP	ENST00000377801.3	37	CCDS34150.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022523	0.54683	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	.	.	.	5.65	5.65	0.86999	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.169872	0.52532	D	0.000068	T	0.34658	0.0905	N	0.12961	0.28	0.50039	D	0.999843	P	0.34522	0.455	B	0.27170	0.077	T	0.18999	-1.0319	9	0.12430	T	0.62	-6.8127	19.7362	0.96205	0.0:0.0:1.0:0.0	.	275	Q63HM9	PLCX3_HUMAN	V	275	.	ENSP00000333751:A275V	A	-	2	0	PLCXD3	41349618	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.761000	0.68801	2.678000	0.91216	0.655000	0.94253	GCC		0.433	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875	
FBXO4	26272	broad.mit.edu	37	5	41929926	41929926	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:41929926G>A	ENST00000281623.3	+	3	609	c.553G>A	c.(553-555)Ggt>Agt	p.G185S	FBXO4_ENST00000509134.1_Missense_Mutation_p.G185S|FBXO4_ENST00000296812.2_Missense_Mutation_p.G185S	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	185				G -> R (in Ref. 1; AAF04468). {ECO:0000305}.	positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|telomere maintenance (GO:0000723)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)	p.G185S(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				GTTTGGACCAGGTTTGGAAGA	0.428																																					p.G185S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G553A	5						.						292.0	266.0	275.0					5																	41929926		2203	4300	6503	41965683	SO:0001583	missense	26272	exon3			AF129534	CCDS3938.1, CCDS3939.1, CCDS75238.1	5p12	2008-02-05	2004-06-15		ENSG00000151876	ENSG00000151876		"""F-boxes /  ""other"""""	13583	protein-coding gene	gene with protein product		609090	"""F-box only protein 4"""			10531035, 10531037	Standard	NM_033484		Approved	FBX4	uc003jmq.3	Q9UKT5	OTTHUMG00000094799	ENST00000281623.3:c.553G>A	5.37:g.41929926G>A	ENSP00000281623:p.Gly185Ser		41965683	NM_012176	Q68CU8|Q86VT8|Q9UK98	Missense_Mutation	SNP	ENST00000281623.3	37	CCDS3938.1	.	.	.	.	.	.	.	.	.	.	G	36	5.646464	0.96704	.	.	ENSG00000151876	ENST00000296812;ENST00000281623;ENST00000509134	T;T;T	0.53206	0.63;0.63;0.63	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.68787	0.3039	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.69375	-0.5162	10	0.72032	D	0.01	-19.5206	19.9601	0.97247	0.0:0.0:1.0:0.0	.	185;185;185	D6RAJ6;Q9UKT5;Q9UKT5-2	.;FBX4_HUMAN;.	S	185	ENSP00000296812:G185S;ENSP00000281623:G185S;ENSP00000421749:G185S	ENSP00000281623:G185S	G	+	1	0	FBXO4	41965683	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.352000	0.97076	2.720000	0.93068	0.655000	0.94253	GGT		0.428	FBXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211614.1		
NIM1K	167359	broad.mit.edu	37	5	43280711	43280711	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:43280711G>A	ENST00000512796.1	+	4	2690	c.1191G>A	c.(1189-1191)aaG>aaA	p.K397K	NIM1_ENST00000326035.2_Silent_p.K397K			Q8IY84	NIM1_HUMAN		397					protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.K397K(1)									TCCAAAGGAAGAAGGCTTTGG	0.443																																					p.K397K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1191A	5						.						48.0	50.0	49.0					5																	43280711		2203	4300	6503	43316468	SO:0001819	synonymous_variant	167359	exon4																														ENST00000512796.1:c.1191G>A	5.37:g.43280711G>A			43316468	NM_153361	B3KVM1	Silent	SNP	ENST00000512796.1	37	CCDS3943.1																																																																																				0.443	NIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368017.1		
PARP8	79668	broad.mit.edu	37	5	50091100	50091100	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:50091100A>G	ENST00000281631.5	+	12	1435	c.1277A>G	c.(1276-1278)cAc>cGc	p.H426R	PARP8_ENST00000514342.2_Missense_Mutation_p.H179R|PARP8_ENST00000505697.2_Missense_Mutation_p.H426R|PARP8_ENST00000514067.2_Missense_Mutation_p.H426R|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000503750.2_Missense_Mutation_p.H426R|PARP8_ENST00000505554.1_Missense_Mutation_p.H405R	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	426						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.H426R(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				CTGAAAAATCACAAATTGCTC	0.448																																					p.H426R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1277G	5						.						82.0	83.0	82.0					5																	50091100		2203	4300	6503	50126857	SO:0001583	missense	79668	exon13			AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.1277A>G	5.37:g.50091100A>G	ENSP00000281631:p.His426Arg		50126857	NM_001178055	Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	A	19.48	3.836253	0.71373	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000514342;ENST00000281631;ENST00000514067;ENST00000505554;ENST00000503561;ENST00000423185	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.64768	0.2628	L	0.29908	0.895	0.52501	D	0.999952	D;D;D	0.63880	0.973;0.96;0.993	D;D;D	0.72338	0.921;0.923;0.977	T	0.63134	-0.6705	8	.	.	.	-12.444	15.5488	0.76129	1.0:0.0:0.0:0.0	.	318;426;426	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	R	426;426;179;426;426;405;179;179	.	.	H	+	2	0	PARP8	50126857	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.927000	0.70080	2.106000	0.64143	0.533000	0.62120	CAC		0.448	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615	
ISL1	3670	broad.mit.edu	37	5	50683521	50683521	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:50683521C>A	ENST00000230658.7	+	3	1001	c.416C>A	c.(415-417)gCc>gAc	p.A139D	ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Missense_Mutation_p.A139D	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	139					atrial septum morphogenesis (GO:0060413)|axon regeneration (GO:0031103)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell myoblast differentiation (GO:0060379)|cardiac right ventricle morphogenesis (GO:0003215)|cellular response to glucocorticoid stimulus (GO:0071385)|endocardial cushion morphogenesis (GO:0003203)|innervation (GO:0060384)|mesenchymal cell differentiation (GO:0048762)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of protein homodimerization activity (GO:0090074)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate specification (GO:0048665)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|pancreas development (GO:0031016)|peripheral nervous system neuron axonogenesis (GO:0048936)|pharyngeal system development (GO:0060037)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage colony-stimulating factor production (GO:1901258)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|retinal ganglion cell axon guidance (GO:0031290)|secondary heart field specification (GO:0003139)|sensory system development (GO:0048880)|spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron differentiation (GO:0021522)|trigeminal nerve development (GO:0021559)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|zinc ion binding (GO:0008270)	p.A139D(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				GTGGAGAGGGCCAGTCTAGGC	0.672																																					p.A139D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C416A	5						.						45.0	48.0	47.0					5																	50683521		2083	4205	6288	50719278	SO:0001583	missense	3670	exon3			BC031213	CCDS43314.1	5q11.2	2012-03-09	2007-07-13		ENSG00000016082	ENSG00000016082		"""Homeoboxes / LIM class"""	6132	protein-coding gene	gene with protein product		600366	"""ISL1 transcription factor, LIM/homeodomain, (islet-1)"""			7912209	Standard	NM_002202		Approved	Isl-1, ISLET1	uc003jor.3	P61371	OTTHUMG00000162281	ENST00000230658.7:c.416C>A	5.37:g.50683521C>A	ENSP00000230658:p.Ala139Asp		50719278	NM_002202	P20663|P47894	Missense_Mutation	SNP	ENST00000230658.7	37	CCDS43314.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521693	0.64747	.	.	ENSG00000016082	ENST00000230658;ENST00000503187;ENST00000511384	D;D	0.85556	-2.0;-1.92	5.41	5.41	0.78517	Zinc finger, LIM-type (1);	0.120597	0.56097	D	0.000037	T	0.81992	0.4940	L	0.43923	1.385	0.80722	D	1	B	0.22683	0.073	B	0.22601	0.04	T	0.76884	-0.2794	10	0.34782	T	0.22	.	18.8508	0.92227	0.0:1.0:0.0:0.0	.	139	P61371	ISL1_HUMAN	D	139	ENSP00000230658:A139D;ENSP00000422676:A139D	ENSP00000230658:A139D	A	+	2	0	ISL1	50719278	1.000000	0.71417	1.000000	0.80357	0.507000	0.33981	7.371000	0.79600	2.538000	0.85594	0.456000	0.33151	GCC		0.672	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368413.3	NM_002202	
ISL1	3670	broad.mit.edu	37	5	50685698	50685698	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:50685698C>T	ENST00000230658.7	+	4	1282	c.697C>T	c.(697-699)Cgg>Tgg	p.R233W	ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Missense_Mutation_p.R233W	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	233					atrial septum morphogenesis (GO:0060413)|axon regeneration (GO:0031103)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell myoblast differentiation (GO:0060379)|cardiac right ventricle morphogenesis (GO:0003215)|cellular response to glucocorticoid stimulus (GO:0071385)|endocardial cushion morphogenesis (GO:0003203)|innervation (GO:0060384)|mesenchymal cell differentiation (GO:0048762)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of protein homodimerization activity (GO:0090074)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate specification (GO:0048665)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|pancreas development (GO:0031016)|peripheral nervous system neuron axonogenesis (GO:0048936)|pharyngeal system development (GO:0060037)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage colony-stimulating factor production (GO:1901258)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|retinal ganglion cell axon guidance (GO:0031290)|secondary heart field specification (GO:0003139)|sensory system development (GO:0048880)|spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron differentiation (GO:0021522)|trigeminal nerve development (GO:0021559)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|zinc ion binding (GO:0008270)	p.R233W(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				TCAAAACAAGCGGTGCAAGGA	0.582																																					p.R233W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C697T	5						.						60.0	72.0	68.0					5																	50685698		2203	4299	6502	50721455	SO:0001583	missense	3670	exon4			BC031213	CCDS43314.1	5q11.2	2012-03-09	2007-07-13		ENSG00000016082	ENSG00000016082		"""Homeoboxes / LIM class"""	6132	protein-coding gene	gene with protein product		600366	"""ISL1 transcription factor, LIM/homeodomain, (islet-1)"""			7912209	Standard	NM_002202		Approved	Isl-1, ISLET1	uc003jor.3	P61371	OTTHUMG00000162281	ENST00000230658.7:c.697C>T	5.37:g.50685698C>T	ENSP00000230658:p.Arg233Trp		50721455	NM_002202	P20663|P47894	Missense_Mutation	SNP	ENST00000230658.7	37	CCDS43314.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.83|18.83	3.707244|3.707244	0.68615|0.68615	.|.	.|.	ENSG00000016082|ENSG00000016082	ENST00000505475|ENST00000230658;ENST00000503187;ENST00000511384	.|D;D	.|0.99167	.|-5.51;-5.51	5.73|5.73	3.75|3.75	0.43078|0.43078	.|Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99450|0.99450	0.9805|0.9805	M|M	0.93283|0.93283	3.4|3.4	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.98362|0.98362	1.0549|1.0549	6|10	0.87932|0.87932	D|D	0|0	.|.	16.5143|16.5143	0.84295|0.84295	0.2486:0.7514:0.0:0.0|0.2486:0.7514:0.0:0.0	.|.	.|233	.|P61371	.|ISL1_HUMAN	V|W	179|233	.|ENSP00000230658:R233W;ENSP00000422676:R233W	ENSP00000421737:A179V|ENSP00000230658:R233W	A|R	+|+	2|1	0|2	ISL1|ISL1	50721455|50721455	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.559000|0.559000	0.35586|0.35586	2.033000|2.033000	0.41136|0.41136	1.384000|1.384000	0.46424|0.46424	0.585000|0.585000	0.79938|0.79938	GCG|CGG		0.582	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368413.3	NM_002202	
IL6ST	3572	broad.mit.edu	37	5	55247869	55247869	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:55247869delT	ENST00000381298.2	-	13	1899	c.1587delA	c.(1585-1587)aaafs	p.K529fs	IL6ST_ENST00000502326.3_Frame_Shift_Del_p.K529fs|IL6ST_ENST00000381294.3_Frame_Shift_Del_p.K468fs|IL6ST_ENST00000522633.2_3'UTR|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000336909.5_Frame_Shift_Del_p.K529fs	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	529	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)	p.V530fs*1(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TTTTCCCTACTTTTTTTGTCC	0.348			O		hepatocellular ca																																p.K468fs			Dom	yes		5	5q11	3572	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""		E	.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1404delA	5						.						73.0	63.0	66.0					5																	55247869		2203	4300	6503	55283626	SO:0001589	frameshift_variant	3572	exon12			M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.1587delA	5.37:g.55247869delT	ENSP00000370698:p.Lys529fs		55283626	NM_001190981	A0N0L4|Q5FC04|Q9UQ41	Frame_Shift_Del	DEL	ENST00000381298.2	37	CCDS3971.1																																																																																				0.348	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184	
ANKRD55	79722	broad.mit.edu	37	5	55407566	55407566	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:55407566delG	ENST00000341048.4	-	10	1160	c.1009delC	c.(1009-1011)cagfs	p.Q337fs	ANKRD55_ENST00000434982.2_Frame_Shift_Del_p.Q49fs|ANKRD55_ENST00000505970.2_5'UTR|ANKRD55_ENST00000504958.2_Frame_Shift_Del_p.Q294fs	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	337								p.Q337fs*111(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TCCTTCTTCTGGGGCCGACTG	0.498																																					p.Q337fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1009delC	5						.						119.0	117.0	118.0					5																	55407566		2203	4300	6503	55443323	SO:0001589	frameshift_variant	79722	exon10			AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"""Ankyrin repeat domain containing"""	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.1009delC	5.37:g.55407566delG	ENSP00000342295:p.Gln337fs		55443323	NM_024669	B3KVT8|Q3KP45|Q9HAD3	Frame_Shift_Del	DEL	ENST00000341048.4	37	CCDS34161.1																																																																																				0.498	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4	NM_024669	
MAP3K1	4214	broad.mit.edu	37	5	56171125	56171125	+	Silent	SNP	C	C	T	rs199816039		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:56171125C>T	ENST00000399503.3	+	10	1953	c.1953C>T	c.(1951-1953)taC>taT	p.Y651Y		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	651					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.Y488Y(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ACAAAGTGTACGTTGCTGCTT	0.433																																					p.Y651Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1953T	5						.						74.0	80.0	78.0					5																	56171125		2072	4221	6293	56206882	SO:0001819	synonymous_variant	4214	exon10			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.1953C>T	5.37:g.56171125C>T			56206882	NM_005921		Silent	SNP	ENST00000399503.3	37	CCDS43318.1																																																																																				0.433	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066	
MIER3	166968	broad.mit.edu	37	5	56219742	56219742	+	Splice_Site	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:56219742G>A	ENST00000381199.3	-	11	1062	c.1052C>T	c.(1051-1053)aCg>aTg	p.T351M	SETD9_ENST00000541720.1_Intron|MIER3_ENST00000381226.3_Splice_Site_p.T356M|MIER3_ENST00000409421.1_Splice_Site_p.T288M|MIER3_ENST00000381213.3_Splice_Site_p.T350M			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	351					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.T350M(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		CAGTACTTACGTAACTCCAGG	0.353																																					p.T350M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1049T	5						.						159.0	154.0	156.0					5																	56219742		2203	4300	6503	56255499	SO:0001630	splice_region_variant	166968	exon11			BX537798	CCDS3973.2, CCDS75248.1	5q11.2	2009-03-19			ENSG00000155545	ENSG00000155545			26678	protein-coding gene	gene with protein product						12477932	Standard	XM_005248448		Approved	FLJ35954, DKFZp686L09111, DKFZp781I1119	uc003jra.1	Q7Z3K6	OTTHUMG00000059589	ENST00000381199.3:c.1052+1C>T	5.37:g.56219742G>A			56255499	NM_152622	B4DRI9|B8ZZQ0|Q5CZI0|Q68CS3|Q6MZS7|Q86YG8|Q8NA13	Missense_Mutation	SNP	ENST00000381199.3	37		.	.	.	.	.	.	.	.	.	.	G	28.8	4.952309	0.92660	.	.	ENSG00000155545	ENST00000381226;ENST00000381213;ENST00000381199;ENST00000409421	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.98	5.98	0.97165	.	0.089962	0.85682	D	0.000000	T	0.76842	0.4044	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.999	T	0.76473	-0.2946	9	.	.	.	-0.9593	20.4496	0.99125	0.0:0.0:1.0:0.0	.	351;356;350	Q7Z3K6;Q7Z3K6-2;Q7Z3K6-3	MIER3_HUMAN;.;.	M	356;350;351;288	ENSP00000370624:T356M;ENSP00000370611:T350M;ENSP00000370596:T351M;ENSP00000386584:T288M	.	T	-	2	0	MIER3	56255499	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.476000	0.97823	2.838000	0.97847	0.563000	0.77884	ACG		0.353	MIER3-004	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000132523.2	NM_152622	Missense_Mutation
IPO11	51194	broad.mit.edu	37	5	61733200	61733200	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:61733200T>G	ENST00000325324.6	+	2	263	c.94T>G	c.(94-96)Ttg>Gtg	p.L32V	KIF2A_ENST00000509663.2_Intron|IPO11_ENST00000409296.3_Missense_Mutation_p.L72V	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	32	Importin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00115}.				ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)	p.L32V(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		TGAGGAGCAGTTGAAGCAGTG	0.413																																					p.L72V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T214G	5						.						142.0	130.0	134.0					5																	61733200		2203	4300	6503	61768957	SO:0001583	missense	51194	exon2			AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"""Importins"""	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.94T>G	5.37:g.61733200T>G	ENSP00000316651:p.Leu32Val		61768957	NM_001134779	A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Missense_Mutation	SNP	ENST00000325324.6	37	CCDS34167.1	.	.	.	.	.	.	.	.	.	.	T	13.94	2.387423	0.42308	.	.	ENSG00000086200	ENST00000514647;ENST00000505902;ENST00000325324;ENST00000506200;ENST00000409296	D;T;D;D;D	0.85556	-2.0;2.01;-2.0;-2.0;-2.0	4.98	-1.84	0.07809	Armadillo-like helical (1);Armadillo-type fold (1);Importin-beta, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.92599	0.7649	M	0.93462	3.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91238	0.5019	10	0.66056	D	0.02	.	11.439	0.50086	0.0:0.5853:0.0:0.4147	.	72;32	Q9UI26-2;Q9UI26	.;IPO11_HUMAN	V	32;32;32;32;72	ENSP00000427129:L32V;ENSP00000425573:L32V;ENSP00000316651:L32V;ENSP00000427274:L32V;ENSP00000386992:L72V	ENSP00000316651:L32V	L	+	1	2	IPO11	61768957	0.997000	0.39634	0.911000	0.35937	0.210000	0.24377	1.201000	0.32259	-0.500000	0.06614	-1.450000	0.01041	TTG		0.413	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335062.1	NM_016338	
HTR1A	3350	broad.mit.edu	37	5	63256508	63256508	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:63256508G>A	ENST00000323865.3	-	1	1272	c.1039C>T	c.(1039-1041)Ctg>Ttg	p.L347L	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	347					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.L347L(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	ATGATGCCCAGCGTCTTCACT	0.602																																					p.L347L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1039T	5						.						122.0	125.0	124.0					5																	63256508		2203	4300	6503	63292264	SO:0001819	synonymous_variant	3350	exon1			AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.1039C>T	5.37:g.63256508G>A			63292264	NM_000524	Q6LAE7	Silent	SNP	ENST00000323865.3	37	CCDS34168.1																																																																																				0.602	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524	
MAST4	375449	broad.mit.edu	37	5	66396408	66396408	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:66396408C>T	ENST00000403625.2	+	8	1353	c.1058C>T	c.(1057-1059)tCc>tTc	p.S353F	MAST4_ENST00000261569.7_Missense_Mutation_p.S159F|MAST4_ENST00000490016.2_Missense_Mutation_p.S164F|MAST4_ENST00000404260.3_Missense_Mutation_p.S356F|MAST4_ENST00000405643.1_Missense_Mutation_p.S174F|MAST4_ENST00000403666.1_Missense_Mutation_p.S164F	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	356						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.S356F(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CGCCCCCGTTCCCGAAGTCTG	0.468																																					p.S164F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C491T	5						.						71.0	74.0	73.0					5																	66396408		2048	4182	6230	66432164	SO:0001583	missense	375449	exon7			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.1058C>T	5.37:g.66396408C>T	ENSP00000385727:p.Ser353Phe		66432164	NM_015183	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	32	5.107417	0.94292	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000490016;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000436277;ENST00000432399	T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94	6.17	6.17	0.99709	Microtubule-associated serine/threonine-protein kinase, domain (1);	0.000000	0.64402	U	0.000011	T	0.75332	0.3835	M	0.92738	3.34	0.48395	D	0.999643	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.79475	-0.1788	10	0.87932	D	0	-13.3172	20.8794	0.99867	0.0:1.0:0.0:0.0	.	174;356;159;164;164	E7EWQ5;O15021;O15021-2;O15021-3;D6RAK1	.;MAST4_HUMAN;.;.;.	F	356;353;164;164;174;174;159;159;159	ENSP00000385048:S356F;ENSP00000385727:S353F;ENSP00000421739:S164F;ENSP00000384313:S164F;ENSP00000384099:S174F;ENSP00000261569:S159F;ENSP00000392478:S159F	ENSP00000261569:S159F	S	+	2	0	MAST4	66432164	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	TCC		0.468	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2		
FCHO2	115548	broad.mit.edu	37	5	72377676	72377676	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:72377676A>G	ENST00000430046.2	+	23	2163	c.2047A>G	c.(2047-2049)Acc>Gcc	p.T683A	FCHO2_ENST00000512348.1_Missense_Mutation_p.T650A|FCHO2_ENST00000341845.6_Missense_Mutation_p.T683A	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	683	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.|Mediates interaction with DAB2, EPS15, EPS15R and ITSN1.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.T683A(2)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		TAGTGCTAGCACCACAGATCT	0.408																																					p.T650A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1948G	5						.						121.0	115.0	117.0					5																	72377676		1886	4112	5998	72413432	SO:0001583	missense	115548	exon22			AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.2047A>G	5.37:g.72377676A>G	ENSP00000393776:p.Thr683Ala		72413432	NM_001146032	A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Missense_Mutation	SNP	ENST00000430046.2	37	CCDS47230.1	.	.	.	.	.	.	.	.	.	.	A	12.40	1.928035	0.34002	.	.	ENSG00000157107	ENST00000430046;ENST00000341845;ENST00000512348	T;T;T	0.41758	0.99;0.99;0.99	5.65	5.65	0.86999	Muniscin C-terminal mu homology domain (1);	0.052532	0.85682	D	0.000000	T	0.42063	0.1186	L	0.56769	1.78	0.47862	D	0.999535	B;B	0.34329	0.449;0.071	B;B	0.38921	0.285;0.246	T	0.24404	-1.0161	10	0.08381	T	0.77	-9.8429	16.0399	0.80667	1.0:0.0:0.0:0.0	.	650;683	E9PG79;Q0JRZ9	.;FCHO2_HUMAN	A	683;683;650	ENSP00000393776:T683A;ENSP00000344034:T683A;ENSP00000427296:T650A	ENSP00000344034:T683A	T	+	1	0	FCHO2	72413432	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	6.971000	0.76105	2.371000	0.80710	0.533000	0.62120	ACC		0.408	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368795.3	XM_291142	
GCNT4	51301	broad.mit.edu	37	5	74325046	74325046	+	Missense_Mutation	SNP	G	G	A	rs138374806	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:74325046G>A	ENST00000322348.4	-	1	1678	c.817C>T	c.(817-819)Cgg>Tgg	p.R273W		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	273					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|homeostasis of number of cells (GO:0048872)|inter-male aggressive behavior (GO:0002121)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|thyroid hormone metabolic process (GO:0042403)|tissue morphogenesis (GO:0048729)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.R273W(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		TAAGGCACCCGTCTAAGTTCA	0.408													g|||	2	0.000399361	0.0015	0.0	5008	,	,		18395	0.0		0.0	False		,,,				2504	0.0				p.R273W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C817T	5						.						85.0	86.0	85.0					5																	74325046		2203	4300	6503	74360802	SO:0001583	missense	51301	exon1			AF132035	CCDS4026.1	5q12	2013-02-25	2010-03-16		ENSG00000176928	ENSG00000176928	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	17973	protein-coding gene	gene with protein product	"""core 2 beta-1,6-N-acetylglucosaminyltransferase 3"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"""		"""glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""			10753916	Standard	NM_016591		Approved	C2GNT3	uc003kdn.3	Q9P109	OTTHUMG00000131272	ENST00000322348.4:c.817C>T	5.37:g.74325046G>A	ENSP00000317027:p.Arg273Trp		74360802	NM_016591		Missense_Mutation	SNP	ENST00000322348.4	37	CCDS4026.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	.	13.41	2.227951	0.39399	.	.	ENSG00000176928	ENST00000322348	T	0.12465	2.68	6.06	4.09	0.47781	.	0.568889	0.19953	N	0.102399	T	0.15652	0.0377	N	0.19112	0.55	0.09310	N	1	D	0.60160	0.987	P	0.53185	0.72	T	0.05784	-1.0864	10	0.52906	T	0.07	-20.2727	12.5145	0.56024	0.0:0.0:0.4399:0.5601	.	273	Q9P109	GCNT4_HUMAN	W	273	ENSP00000317027:R273W	ENSP00000317027:R273W	R	-	1	2	GCNT4	74360802	0.995000	0.38212	0.630000	0.29268	0.399000	0.30720	2.432000	0.44784	1.531000	0.49152	0.650000	0.86243	CGG		0.408	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254040.1	NM_016591	
POC5	134359	broad.mit.edu	37	5	74988293	74988293	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:74988293C>A	ENST00000428202.2	-	7	912	c.723G>T	c.(721-723)aaG>aaT	p.K241N	POC5_ENST00000380475.2_Missense_Mutation_p.K124N|POC5_ENST00000504862.1_5'Flank|POC5_ENST00000446329.2_Missense_Mutation_p.K216N|POC5_ENST00000510798.1_Missense_Mutation_p.K124N|POC5_ENST00000514838.2_Missense_Mutation_p.K213N	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	241					cell cycle (GO:0007049)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.K215N(1)|p.K241N(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TTTCCTTTTGCTTGCCTATGG	0.393																																					p.K241N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G723T	5						.						186.0	174.0	178.0					5																	74988293		1886	4129	6015	75024049	SO:0001583	missense	134359	exon7			AK093098	CCDS47236.1, CCDS47237.1	5q13.3	2013-08-05	2013-08-05	2010-03-26	ENSG00000152359	ENSG00000152359			26658	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 37"", ""POC5 centriolar protein homolog (Chlamydomonas)"""	C5orf37		19349582	Standard	NM_152408		Approved	FLJ35779, MGC120442, MGC120443, MGC120444, hPOC5	uc003keh.4	Q8NA72	OTTHUMG00000162487	ENST00000428202.2:c.723G>T	5.37:g.74988293C>A	ENSP00000410216:p.Lys241Asn		75024049	NM_001099271	B4DJG7|Q494X7|Q494X9|Q6P085	Missense_Mutation	SNP	ENST00000428202.2	37	CCDS47236.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.145242	0.77888	.	.	ENSG00000152359	ENST00000428202;ENST00000514838;ENST00000380475;ENST00000510798;ENST00000446329;ENST00000503835	T;T;T;T;T	0.57273	1.46;1.1;0.41;0.41;1.45	5.85	4.09	0.47781	.	0.222185	0.53938	D	0.000059	T	0.67316	0.2880	M	0.74258	2.255	0.42866	D	0.994124	D;P;D	0.76494	0.999;0.934;0.966	D;P;P	0.63283	0.913;0.737;0.798	T	0.69924	-0.5013	10	0.87932	D	0	-16.3854	10.2445	0.43332	0.0:0.7865:0.0:0.2135	.	124;241;216	Q8NA72-2;Q8NA72;Q8NA72-3	.;POC5_HUMAN;.	N	241;213;124;124;216;124	ENSP00000410216:K241N;ENSP00000420971:K213N;ENSP00000369842:K124N;ENSP00000426796:K124N;ENSP00000399481:K216N	ENSP00000369842:K124N	K	-	3	2	POC5	75024049	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.808000	0.27154	0.830000	0.34757	0.655000	0.94253	AAG		0.393	POC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369124.1	NM_152408	
F2R	2149	broad.mit.edu	37	5	76029056	76029056	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:76029056C>G	ENST00000319211.4	+	2	1271	c.1006C>G	c.(1006-1008)Cat>Gat	p.H336D		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	336					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPKK activity (GO:0000186)|anatomical structure morphogenesis (GO:0009653)|blood coagulation (GO:0007596)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|G-protein coupled receptor signaling pathway (GO:0007186)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of renin secretion into blood stream (GO:1900134)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of blood coagulation (GO:0030194)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood coagulation (GO:0030193)|regulation of interleukin-1 beta production (GO:0032651)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|STAT protein import into nucleus (GO:0007262)|tyrosine phosphorylation of STAT protein (GO:0007260)	caveola (GO:0005901)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|platelet dense tubular network (GO:0031094)|postsynaptic membrane (GO:0045211)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	CCTGATTGCGCATTACTCATT	0.527																																					p.H336D												.	.	0			c.C1006G	5						.						173.0	126.0	142.0					5																	76029056		2203	4300	6503	76064812	SO:0001583	missense	2149	exon2			M62424	CCDS4032.1	5q13	2012-08-08			ENSG00000181104	ENSG00000181104		"""GPCR / Class A : Protease activated receptors"""	3537	protein-coding gene	gene with protein product		187930				8395910	Standard	NM_001992		Approved	TR, CF2R, PAR1, PAR-1	uc003ken.4	P25116	OTTHUMG00000131299	ENST00000319211.4:c.1006C>G	5.37:g.76029056C>G	ENSP00000321326:p.His336Asp		76064812	NM_001992	Q53XV0|Q96RF7|Q9BUN4	Missense_Mutation	SNP	ENST00000319211.4	37	CCDS4032.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730729	0.48939	.	.	ENSG00000181104	ENST00000319211	T	0.70869	-0.52	4.7	4.7	0.59300	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.84147	0.5408	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.85458	0.1165	10	0.54805	T	0.06	-25.2212	18.1763	0.89762	0.0:1.0:0.0:0.0	.	336	P25116	PAR1_HUMAN	D	336	ENSP00000321326:H336D	ENSP00000321326:H336D	H	+	1	0	F2R	76064812	1.000000	0.71417	0.261000	0.24466	0.023000	0.10783	7.502000	0.81614	2.592000	0.87571	0.561000	0.74099	CAT		0.527	F2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254068.2		
AP3B1	8546	broad.mit.edu	37	5	77311290	77311292	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	CTT	CTT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:77311290_77311292delCTT	ENST00000255194.6	-	26	3248_3250	c.3073_3075delAAG	c.(3073-3075)aagdel	p.K1025del	AP3B1_ENST00000519295.1_In_Frame_Del_p.K976del	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	1025					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)	p.K1025delK(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		CATTTACAACCTTCTGAAAGATC	0.429									Hermansky-Pudlak syndrome																												p.1025_1025del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.3073_3075del	5						.																																			77347048	SO:0001651	inframe_deletion	8546	exon26	Familial Cancer Database	HPS, HPS1-8	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.3073_3075delAAG	5.37:g.77311290_77311292delCTT	ENSP00000255194:p.Lys1025del		77347046	NM_003664	E5RJ68|O00580|Q7Z393|Q9HD66	In_Frame_Del	DEL	ENST00000255194.6	37	CCDS4041.1																																																																																				0.429	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2		
DMGDH	29958	broad.mit.edu	37	5	78328590	78328590	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:78328590C>T	ENST00000255189.3	-	9	1465	c.1437G>A	c.(1435-1437)gaG>gaA	p.E479E	DMGDH_ENST00000540686.1_Silent_p.E99E|DMGDH_ENST00000380311.4_Silent_p.E278E	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	479					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)	p.E479E(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		AACACTTAGACTCCAGCCTTT	0.498																																					p.E479E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1437A	5						.						128.0	131.0	130.0					5																	78328590		2203	4300	6503	78364346	SO:0001819	synonymous_variant	29958	exon9			AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.1437G>A	5.37:g.78328590C>T			78364346	NM_013391	B2RBN0|B4E1J9	Silent	SNP	ENST00000255189.3	37	CCDS4044.1																																																																																				0.498	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391	
MTX3	345778	broad.mit.edu	37	5	79285015	79285015	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:79285015G>T	ENST00000512528.1	-	4	301	c.281C>A	c.(280-282)gCt>gAt	p.A94D	MTX3_ENST00000512560.1_Missense_Mutation_p.A33D|MTX3_ENST00000509852.1_Missense_Mutation_p.A94D			Q5HYI7	MTX3_HUMAN	metaxin 3	94					protein targeting to mitochondrion (GO:0006626)	mitochondrial outer membrane (GO:0005741)		p.A94D(1)		endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1)	7		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		AGCAATATAAGCCAATGTATC	0.363																																					p.A94D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C281A	5						.						68.0	62.0	64.0					5																	79285015		1824	4090	5914	79320771	SO:0001583	missense	345778	exon4			BX538064	CCDS47239.1, CCDS47239.2, CCDS54872.1	5q14.1	2004-08-18				ENSG00000177034			24812	protein-coding gene	gene with protein product						15087125	Standard	NM_001010891		Approved		uc010jah.3	Q5HYI7		ENST00000512528.1:c.281C>A	5.37:g.79285015G>T	ENSP00000424798:p.Ala94Asp		79320771	NM_001010891	B4DL65|E9PB57|Q7Z380|Q8NB92	Missense_Mutation	SNP	ENST00000512528.1	37		.	.	.	.	.	.	.	.	.	.	G	29.3	4.995717	0.93167	.	.	ENSG00000177034	ENST00000512560;ENST00000328496;ENST00000509852;ENST00000512528;ENST00000418095	T;T;T	0.60797	0.25;0.2;0.16	5.52	5.52	0.82312	Glutathione S-transferase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.79633	0.4479	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.81771	-0.0780	10	0.87932	D	0	-13.1577	19.8024	0.96513	0.0:0.0:1.0:0.0	.	94;94	Q5HYI7-4;Q5HYI7	.;MTX3_HUMAN	D	33;94;94;94;94	ENSP00000423600:A33D;ENSP00000423302:A94D;ENSP00000424798:A94D	ENSP00000331672:A94D	A	-	2	0	MTX3	79320771	1.000000	0.71417	0.997000	0.53966	0.907000	0.53573	9.168000	0.94781	2.752000	0.94435	0.655000	0.94253	GCT		0.363	MTX3-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372567.1	XM_293971	
HAPLN1	1404	broad.mit.edu	37	5	82948416	82948416	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:82948416C>A	ENST00000274341.4	-	3	1178	c.328G>T	c.(328-330)Ggt>Tgt	p.G110C	HAPLN1_ENST00000514416.1_Missense_Mutation_p.G110C	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	110	Ig-like V-type.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)	p.G110C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	AACACTCTACCCTGGTAGCCT	0.438																																					p.G110C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G328T	5						.						127.0	124.0	125.0					5																	82948416		2203	4300	6503	82984172	SO:0001583	missense	1404	exon3				CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"""Immunoglobulin superfamily / V-set domain containing"""	2380	protein-coding gene	gene with protein product	"""Cartilage link protein"", ""hyaluronan and proteoglycan link protein 1"""	115435	"""cartilage linking protein 1"""	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.328G>T	5.37:g.82948416C>A	ENSP00000274341:p.Gly110Cys		82984172	NM_001884	B2R9A9	Missense_Mutation	SNP	ENST00000274341.4	37	CCDS4061.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.417818	0.83449	.	.	ENSG00000145681	ENST00000274341;ENST00000510978;ENST00000508307;ENST00000503117;ENST00000504713;ENST00000514416;ENST00000515590	T;T;T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6	6.16	6.16	0.99307	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.88610	0.6483	M	0.91406	3.205	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89478	0.3748	10	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	110	P10915	HPLN1_HUMAN	C	110;110;110;109;110;110;110	ENSP00000274341:G110C;ENSP00000422592:G110C;ENSP00000421341:G110C;ENSP00000426610:G109C;ENSP00000422522:G110C;ENSP00000421726:G110C;ENSP00000423836:G110C	ENSP00000274341:G110C	G	-	1	0	HAPLN1	82984172	0.998000	0.40836	0.998000	0.56505	0.968000	0.65278	5.732000	0.68563	2.937000	0.99478	0.650000	0.86243	GGT		0.438	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884	
TTC37	9652	broad.mit.edu	37	5	94803595	94803595	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:94803595G>A	ENST00000358746.2	-	42	4893	c.4595C>T	c.(4594-4596)gCc>gTc	p.A1532V		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1532						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)		p.A1532V(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						GTCATCTTTGGCATATAAGTG	0.363																																					p.A1532V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4595T	5						.						122.0	111.0	115.0					5																	94803595		2203	4300	6503	94829351	SO:0001583	missense	9652	exon42			AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.4595C>T	5.37:g.94803595G>A	ENSP00000351596:p.Ala1532Val		94829351	NM_014639	O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.036709	0.93630	.	.	ENSG00000198677	ENST00000358746	D	0.85013	-1.93	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.90566	0.7043	L	0.59436	1.845	0.58432	D	0.999996	D	0.76494	0.999	D	0.64687	0.928	D	0.91243	0.5023	10	0.66056	D	0.02	.	18.4689	0.90766	0.0:0.0:1.0:0.0	.	1532	Q6PGP7	TTC37_HUMAN	V	1532	ENSP00000351596:A1532V	ENSP00000351596:A1532V	A	-	2	0	TTC37	94829351	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.141000	0.71744	2.467000	0.83353	0.555000	0.69702	GCC		0.363	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639	
LNPEP	4012	broad.mit.edu	37	5	96360267	96360267	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:96360267delA	ENST00000231368.5	+	15	3296	c.2604delA	c.(2602-2604)gcafs	p.A868fs	LNPEP_ENST00000395770.3_Frame_Shift_Del_p.A854fs	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	868					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-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T870fs*15(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		AAGTTGGAGCAAAAACTGACA	0.408																																					p.A868fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2604delA	5						.						95.0	88.0	90.0					5																	96360267		2203	4300	6503	96386023	SO:0001589	frameshift_variant	4012	exon15			D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"""cystinyl aminopeptidase"", ""placental leucine aminopeptidase"""	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.2604delA	5.37:g.96360267delA	ENSP00000231368:p.Ala868fs		96386023	NM_005575	O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Frame_Shift_Del	DEL	ENST00000231368.5	37	CCDS4087.1																																																																																				0.408	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575	
RIOK2	55781	broad.mit.edu	37	5	96507002	96507002	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:96507002delA	ENST00000283109.3	-	6	755	c.687delT	c.(685-687)tttfs	p.F229fs	CTD-2215E18.1_ENST00000509481.1_Intron|RIOK2_ENST00000508447.1_Frame_Shift_Del_p.F229fs	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	229							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.F229fs*16(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		TAAATTCATTAAAATCTCCAT	0.373																																					p.F229fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.687delT	5						.						91.0	87.0	88.0					5																	96507002		2203	4300	6503	96532758	SO:0001589	frameshift_variant	55781	exon6			AK002021	CCDS4089.1, CCDS54884.1	5q14	2012-12-10	2012-12-10		ENSG00000058729	ENSG00000058729			18999	protein-coding gene	gene with protein product			"""RIO kinase 2 (yeast)"""				Standard	NM_018343		Approved	FLJ11159	uc003kmz.3	Q9BVS4	OTTHUMG00000128723	ENST00000283109.3:c.687delT	5.37:g.96507002delA	ENSP00000283109:p.Phe229fs		96532758	NM_018343	D6RDI3|Q9NUT0	Frame_Shift_Del	DEL	ENST00000283109.3	37	CCDS4089.1																																																																																				0.373	RIOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250628.1	NM_018343	
RGMB	285704	broad.mit.edu	37	5	98128924	98128924	+	Missense_Mutation	SNP	G	G	T	rs371130624		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:98128924G>T	ENST00000513185.1	+	3	1217	c.781G>T	c.(781-783)Gtg>Ttg	p.V261L	RGMB_ENST00000308234.7_Missense_Mutation_p.V302L			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	261					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)	p.V302L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		CCTGCGTATCGTGGAAAGGGA	0.587																																					p.V302L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G904T	5						.						54.0	56.0	55.0					5																	98128924		2141	4254	6395	98156824	SO:0001583	missense	285704	exon5			AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"""RGM domain family, member B"""			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000513185.1:c.781G>T	5.37:g.98128924G>T	ENSP00000423256:p.Val261Leu		98156824	NM_001012761	D6R9A0|Q8NC92	Missense_Mutation	SNP	ENST00000513185.1	37		.	.	.	.	.	.	.	.	.	.	G	10.80	1.451219	0.26074	.	.	ENSG00000174136	ENST00000308234;ENST00000513185	D;D	0.84589	-1.87;-1.87	5.75	4.88	0.63580	Repulsive guidance molecule, C-terminal (1);	0.416804	0.28533	N	0.015001	T	0.74604	0.3738	L	0.31294	0.92	0.41265	D	0.986809	B	0.16166	0.016	B	0.17722	0.019	T	0.66456	-0.5919	10	0.09843	T	0.71	-10.969	11.1489	0.48447	0.1422:0.0:0.8578:0.0	.	261	Q6NW40	RGMB_HUMAN	L	302;261	ENSP00000308219:V302L;ENSP00000423256:V261L	ENSP00000308219:V302L	V	+	1	0	RGMB	98156824	0.953000	0.32496	0.962000	0.40283	0.938000	0.57974	1.550000	0.36223	1.423000	0.47198	0.563000	0.77884	GTG		0.587	RGMB-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370308.1	NM_173670	
CCDC112	153733	broad.mit.edu	37	5	114610916	114610916	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:114610916delT	ENST00000512261.1	-	7	1082	c.666delA	c.(664-666)aaafs	p.K222fs	CCDC112_ENST00000379611.5_Frame_Shift_Del_p.K305fs|CCDC112_ENST00000506442.1_Frame_Shift_Del_p.K222fs|CCDC112_ENST00000395557.4_Frame_Shift_Del_p.K222fs|CCDC112_ENST00000503027.1_5'Flank			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	222								p.E306fs*20(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		TTATTACCTCTTTTTTTCTTT	0.328																																					p.K305fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.915delA	5						.						26.0	29.0	28.0					5																	114610916		2192	4290	6482	114638815	SO:0001589	frameshift_variant	153733	exon6			BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.666delA	5.37:g.114610916delT	ENSP00000423712:p.Lys222fs		114638815	NM_001040440	Q6A334	Frame_Shift_Del	DEL	ENST00000512261.1	37	CCDS4117.1																																																																																				0.328	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	NM_152549	
WWC1	23286	broad.mit.edu	37	5	167835549	167835549	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:167835549delG	ENST00000265293.4	+	7	1260	c.758delG	c.(757-759)aggfs	p.R253fs	WWC1_ENST00000521089.1_Frame_Shift_Del_p.R253fs	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	253					cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)	p.S255fs*26(1)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CGCACTGACAGGGGGTCTCAC	0.592																																					p.R253fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.758delG	5						.						122.0	115.0	117.0					5																	167835549		2203	4300	6503	167768127	SO:0001589	frameshift_variant	23286	exon7			AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.758delG	5.37:g.167835549delG	ENSP00000265293:p.Arg253fs		167768127	NM_001161661	B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Frame_Shift_Del	DEL	ENST00000265293.4	37	CCDS4366.1																																																																																				0.592	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238	
TRIM7	81786	broad.mit.edu	37	5	180625728	180625728	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr5:180625728T>G	ENST00000274773.7	-	5	1011	c.950A>C	c.(949-951)aAg>aCg	p.K317T	CTC-338M12.6_ENST00000502812.2_RNA|TRIM7_ENST00000422067.2_Missense_Mutation_p.K109T|TRIM7_ENST00000361809.3_Missense_Mutation_p.K109T|CTC-338M12.6_ENST00000419707.2_RNA|CTC-338M12.6_ENST00000514784.1_RNA|TRIM7_ENST00000393319.3_Missense_Mutation_p.K135T|CTC-338M12.6_ENST00000511517.1_RNA|CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000504241.1_5'UTR|TRIM7_ENST00000393315.1_Missense_Mutation_p.K109T|CTC-338M12.6_ENST00000509080.1_RNA	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	317						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.K317T(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		GACAAAGGTCTTGAGAGAAAC	0.527																																					p.K109T	Esophageal Squamous(128;2258 2308 35507 48647)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A326C	5						.						58.0	65.0	63.0					5																	180625728		2203	4300	6503	180558334	SO:0001583	missense	81786	exon5			AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16278	protein-coding gene	gene with protein product	"""glycogenin-interacting protein"", ""tripartite motif protein TRIM7"""	609315	"""tripartite motif-containing 7"""			11331580	Standard	NM_203294		Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000274773.7:c.950A>C	5.37:g.180625728T>G	ENSP00000274773:p.Lys317Thr		180558334	NM_203295	A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	Missense_Mutation	SNP	ENST00000274773.7	37	CCDS4462.1	.	.	.	.	.	.	.	.	.	.	T	14.12	2.439271	0.43326	.	.	ENSG00000146054	ENST00000274773;ENST00000393315;ENST00000361809;ENST00000393319;ENST00000422067	T;T;T;T;T	0.60424	0.59;0.23;0.23;0.19;0.23	6.04	6.04	0.98038	.	0.000000	0.64402	D	0.000012	T	0.57695	0.2071	M	0.72894	2.215	0.43678	D	0.996114	P;P	0.44734	0.842;0.763	B;B	0.40165	0.321;0.229	T	0.63337	-0.6660	10	0.52906	T	0.07	.	12.9681	0.58497	0.0:0.0:0.0:1.0	.	317;135	Q9C029;Q9C029-4	TRIM7_HUMAN;.	T	317;109;109;135;109	ENSP00000274773:K317T;ENSP00000376991:K109T;ENSP00000355059:K109T;ENSP00000376994:K135T;ENSP00000391458:K109T	ENSP00000274773:K317T	K	-	2	0	TRIM7	180558334	0.998000	0.40836	1.000000	0.80357	0.723000	0.41478	1.227000	0.32576	2.317000	0.78254	0.459000	0.35465	AAG		0.527	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253569.3	NM_203296	
ASCC3	10973	broad.mit.edu	37	6	101053556	101053556	+	Missense_Mutation	SNP	G	G	A	rs527410635		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:101053556G>A	ENST00000369162.2	-	33	5409	c.5065C>T	c.(5065-5067)Cgt>Tgt	p.R1689C		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1689	Helicase C-terminal 2. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)	p.R1689C(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CTCCCAGCACGCCCCATCATC	0.383													G|||	1	0.000199681	0.0008	0.0	5008	,	,		12517	0.0		0.0	False		,,,				2504	0.0				p.R1689C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5065T	6						.						31.0	33.0	32.0					6																	101053556		2203	4299	6502	101160277	SO:0001583	missense	10973	exon33			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.5065C>T	6.37:g.101053556G>A	ENSP00000358159:p.Arg1689Cys		101160277	NM_006828	E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717440	0.89205	.	.	ENSG00000112249	ENST00000369162	D	0.99150	-5.49	5.53	4.65	0.58169	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99684	0.9881	H	0.99863	4.86	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97187	0.9855	10	0.52906	T	0.07	.	15.6583	0.77162	0.0:0.0:0.8616:0.1384	.	1689	Q8N3C0	HELC1_HUMAN	C	1689	ENSP00000358159:R1689C	ENSP00000358159:R1689C	R	-	1	0	ASCC3	101160277	1.000000	0.71417	0.969000	0.41365	0.998000	0.95712	6.695000	0.74593	1.316000	0.45131	0.563000	0.77884	CGT		0.383	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828	
SYCP2L	221711	broad.mit.edu	37	6	10961774	10961774	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:10961774T>A	ENST00000283141.6	+	28	2693	c.2397T>A	c.(2395-2397)tgT>tgA	p.C799*		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	799						nucleus (GO:0005634)		p.C799*(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			AATCTTTCTGTGATCTGCAAG	0.403																																					p.C799X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T2397A	6						.						133.0	120.0	124.0					6																	10961774		1853	4111	5964	11069760	SO:0001587	stop_gained	221711	exon28			AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.2397T>A	6.37:g.10961774T>A	ENSP00000283141:p.Cys799*		11069760	NM_001040274	A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Nonsense_Mutation	SNP	ENST00000283141.6	37	CCDS43423.1	.	.	.	.	.	.	.	.	.	.	T	40	8.021160	0.98613	.	.	ENSG00000153157	ENST00000283141	.	.	.	5.48	1.63	0.23807	.	0.086882	0.49305	D	0.000151	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1096	7.3438	0.26652	0.0:0.2612:0.0:0.7388	.	.	.	.	X	799	.	ENSP00000283141:C799X	C	+	3	2	SYCP2L	11069760	0.999000	0.42202	0.941000	0.38009	0.468000	0.32798	0.275000	0.18698	0.043000	0.15746	0.460000	0.39030	TGT		0.403	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299	
GRIK2	2898	broad.mit.edu	37	6	102337621	102337621	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:102337621A>C	ENST00000421544.1	+	11	2121	c.1631A>C	c.(1630-1632)aAg>aCg	p.K544T	GRIK2_ENST00000369137.3_Missense_Mutation_p.K544T|GRIK2_ENST00000318991.6_Missense_Mutation_p.K544T|GRIK2_ENST00000369134.4_Missense_Mutation_p.K495T|GRIK2_ENST00000413795.1_Missense_Mutation_p.K544T|GRIK2_ENST00000369138.1_Missense_Mutation_p.K544T	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	544					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.K544T(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TTGTACCGCAAGCCCAATGGT	0.468																																					p.K544T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1631C	6						.						185.0	180.0	181.0					6																	102337621		2203	4300	6503	102444314	SO:0001583	missense	2898	exon11				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.1631A>C	6.37:g.102337621A>C	ENSP00000397026:p.Lys544Thr		102444314	NM_021956	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.422532	0.83559	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000436862	T;T;T;T;T;T;T	0.14893	2.47;2.47;2.47;2.47;2.47;2.47;2.47	5.6	5.6	0.85130	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.28433	0.0703	L	0.61218	1.895	0.58432	D	0.999993	D;D;D	0.64830	0.994;0.99;0.988	D;P;D	0.67548	0.952;0.895;0.952	T	0.01472	-1.1346	10	0.44086	T	0.13	.	15.7892	0.78338	1.0:0.0:0.0:0.0	.	544;544;544	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	T	544;544;544;544;544;544;495;143	ENSP00000397026:K544T;ENSP00000405596:K544T;ENSP00000358134:K544T;ENSP00000358133:K544T;ENSP00000313276:K544T;ENSP00000358130:K495T;ENSP00000407140:K143T	ENSP00000313276:K544T	K	+	2	0	GRIK2	102444314	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.123000	0.65237	0.528000	0.53228	AAG		0.468	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1		
CDK19	23097	broad.mit.edu	37	6	110959856	110959856	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:110959856T>G	ENST00000368911.3	-	5	689	c.510A>C	c.(508-510)aaA>aaC	p.K170N	CDK19_ENST00000413605.2_Missense_Mutation_p.K46N|CDK19_ENST00000323817.3_Missense_Mutation_p.K110N	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	170	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.K170N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						ACCTACCTATTTTGACTCTCC	0.303																																					p.K170N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A510C	6						.						90.0	96.0	94.0					6																	110959856		2203	4295	6498	111066549	SO:0001583	missense	23097	exon5			AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"""Cyclin-dependent kinases"""	19338	protein-coding gene	gene with protein product		614720	"""cyclin-dependent kinase (CDC2-like) 11"", ""cell division cycle 2-like 6 (CDK8-like)"""	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.510A>C	6.37:g.110959856T>G	ENSP00000357907:p.Lys170Asn		111066549	NM_015076	Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	Missense_Mutation	SNP	ENST00000368911.3	37	CCDS5085.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.295719	0.81025	.	.	ENSG00000155111	ENST00000368911;ENST00000323817;ENST00000392576;ENST00000413605;ENST00000457688	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	5.74	5.74	0.90152	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	D	0.84897	0.5574	H	0.97635	4.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90338	0.4357	10	0.87932	D	0	-21.4417	16.3305	0.83010	0.0:0.0:0.0:1.0	.	46;170	B4DUB1;Q9BWU1	.;CDK19_HUMAN	N	170;110;109;46;110	ENSP00000357907:K170N;ENSP00000317665:K110N;ENSP00000410604:K46N;ENSP00000415621:K110N	ENSP00000317665:K110N	K	-	3	2	CDK19	111066549	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.606000	0.61126	2.317000	0.78254	0.459000	0.35465	AAA		0.303	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041804.1	NM_015076	
REV3L	5980	broad.mit.edu	37	6	111650746	111650746	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:111650746G>A	ENST00000358835.3	-	26	8684	c.8230C>T	c.(8230-8232)Cca>Tca	p.P2744S	REV3L_ENST00000368805.1_Missense_Mutation_p.P2744S|REV3L_ENST00000435970.1_Missense_Mutation_p.P2666S|REV3L_ENST00000368802.3_Missense_Mutation_p.P2744S			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2744					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.P2666S(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TCAATGCATGGCATTCTCCCA	0.428								DNA polymerases (catalytic subunits)																													p.P2744S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8230T	6						.						140.0	134.0	136.0					6																	111650746		2203	4300	6503	111757439	SO:0001583	missense	5980	exon25			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.8230C>T	6.37:g.111650746G>A	ENSP00000351697:p.Pro2744Ser		111757439	NM_002912	O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	G	23.4	4.410177	0.83340	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.27256	1.68;1.68;1.68;1.68	5.76	5.76	0.90799	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.000000	0.85682	D	0.000000	T	0.59473	0.2196	H	0.94503	3.545	0.80722	D	1	D	0.63880	0.993	D	0.68943	0.961	T	0.71062	-0.4701	10	0.87932	D	0	-4.2576	19.9765	0.97312	0.0:0.0:1.0:0.0	.	2744	O60673	DPOLZ_HUMAN	S	2744;2744;2744;2666	ENSP00000357792:P2744S;ENSP00000357795:P2744S;ENSP00000351697:P2744S;ENSP00000402003:P2666S	ENSP00000351697:P2744S	P	-	1	0	REV3L	111757439	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.745000	0.98856	2.733000	0.93635	0.467000	0.42956	CCA		0.428	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912	
LAMA4	3910	broad.mit.edu	37	6	112435308	112435308	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:112435308C>T	ENST00000230538.7	-	38	5694	c.5297G>A	c.(5296-5298)aGg>aAg	p.R1766K	LAMA4_ENST00000389463.4_Missense_Mutation_p.R1759K|LAMA4_ENST00000522006.1_Missense_Mutation_p.R1759K|LAMA4_ENST00000424408.2_Missense_Mutation_p.R1759K	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1766	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.R1759K(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CACAGGCTCCCTGTGATCAAT	0.393																																					p.R1759K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5276A	6						.						109.0	105.0	106.0					6																	112435308		2203	4300	6503	112542001	SO:0001583	missense	3910	exon38				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.5297G>A	6.37:g.112435308C>T	ENSP00000230538:p.Arg1766Lys		112542001	NM_001105207	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.576053	0.45902	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	5.6	5.6	0.85130	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.135590	0.64402	D	0.000003	T	0.43964	0.1271	N	0.15975	0.35	0.80722	D	1	B;B	0.24426	0.103;0.084	B;B	0.26202	0.067;0.04	T	0.43245	-0.9403	10	0.07644	T	0.81	.	13.2316	0.59947	0.0:0.9271:0.0:0.0729	.	1766;1759	Q16363;Q16363-2	LAMA4_HUMAN;.	K	1766;1759;1759;1759	ENSP00000230538:R1766K;ENSP00000429488:R1759K;ENSP00000374114:R1759K;ENSP00000416470:R1759K	ENSP00000230538:R1766K	R	-	2	0	LAMA4	112542001	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.079000	0.57613	2.806000	0.96561	0.655000	0.94253	AGG		0.393	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206	
NEDD9	4739	broad.mit.edu	37	6	11185508	11185508	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:11185508C>T	ENST00000379446.5	-	7	2558	c.2392G>A	c.(2392-2394)Gcc>Acc	p.A798T	NEDD9_ENST00000504387.1_Missense_Mutation_p.A798T|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	798					actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)		p.A798T(4)		endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			TAATGGAGGGCGGCCATCTTG	0.552																																					p.A798T												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G2392A	6						.						162.0	144.0	150.0					6																	11185508		2203	4300	6503	11293494	SO:0001583	missense	4739	exon7			L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"""Cas scaffolding proteins"""	7733	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 2"", ""Cas-like"""	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.2392G>A	6.37:g.11185508C>T	ENSP00000368759:p.Ala798Thr		11293494	NM_006403	A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Missense_Mutation	SNP	ENST00000379446.5	37	CCDS4520.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736342	0.89482	.	.	ENSG00000111859	ENST00000379446;ENST00000504387	T;T	0.35973	1.28;1.28	6.17	6.17	0.99709	CAS family, DUF3513 (1);	0.044236	0.85682	D	0.000000	T	0.61173	0.2326	M	0.81112	2.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.62487	-0.6844	10	0.87932	D	0	-35.1735	20.8794	0.99867	0.0:1.0:0.0:0.0	.	798;798;798	G5E9Y9;A8K9G7;Q14511	.;.;CASL_HUMAN	T	798	ENSP00000368759:A798T;ENSP00000422871:A798T	ENSP00000368759:A798T	A	-	1	0	NEDD9	11293494	1.000000	0.71417	0.998000	0.56505	0.543000	0.35085	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	GCC		0.552	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039853.2	NM_006403	
LAMA4	3910	broad.mit.edu	37	6	112480078	112480078	+	Missense_Mutation	SNP	G	G	A	rs137893207		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:112480078G>A	ENST00000230538.7	-	14	2070	c.1673C>T	c.(1672-1674)gCg>gTg	p.A558V	LAMA4_ENST00000389463.4_Missense_Mutation_p.A551V|LAMA4_ENST00000522006.1_Missense_Mutation_p.A551V|RP1-142L7.5_ENST00000585373.1_RNA|RP1-142L7.5_ENST00000425503.1_RNA|LAMA4_ENST00000424408.2_Missense_Mutation_p.A551V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	558	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.A551V(2)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AATCCCTGACGCATTCTAAAG	0.303													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16725	0.0		0.0	False		,,,				2504	0.0				p.A551V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1652T	6						.	G	VAL/ALA,VAL/ALA,VAL/ALA	0,4404		0,0,2202	95.0	86.0	89.0		1673,1652,1652	5.7	1.0	6	dbSNP_134	89	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	LAMA4	NM_001105206.1,NM_001105207.1,NM_002290.3	64,64,64	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign	558/1824,551/1817,551/1817	112480078	2,13002	2202	4300	6502	112586771	SO:0001583	missense	3910	exon14				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1673C>T	6.37:g.112480078G>A	ENSP00000230538:p.Ala558Val		112586771	NM_001105207	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	CCDS43491.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	7.996	0.754395	0.15778	0.0	2.33E-4	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.12672	2.68;2.66;2.66;2.66	5.68	5.68	0.88126	.	0.251709	0.39210	N	0.001423	T	0.02610	0.0079	N	0.12182	0.205	0.80722	D	1	B;B	0.27971	0.123;0.196	B;B	0.19148	0.008;0.024	T	0.17653	-1.0362	10	0.05959	T	0.93	.	16.695	0.85333	0.0:0.0:1.0:0.0	.	558;551	Q16363;Q16363-2	LAMA4_HUMAN;.	V	558;551;551;551	ENSP00000230538:A558V;ENSP00000429488:A551V;ENSP00000374114:A551V;ENSP00000416470:A551V	ENSP00000230538:A558V	A	-	2	0	LAMA4	112586771	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	2.197000	0.42696	2.668000	0.90789	0.591000	0.81541	GCG		0.303	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206	
TSPYL1	7259	broad.mit.edu	37	6	116600272	116600272	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:116600272G>A	ENST00000368608.3	-	1	794	c.722C>T	c.(721-723)aCt>aTt	p.T241I	DSE_ENST00000540275.1_Intron|DSE_ENST00000452085.3_5'Flank|RP1-93H18.1_ENST00000449314.1_lincRNA	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	241					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.T241I(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		AGCATTCACAGTGTCCAGTTC	0.582																																					p.T241I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C722T	6						.						75.0	69.0	71.0					6																	116600272		2203	4300	6503	116706965	SO:0001583	missense	7259	exon1			AF042181	CCDS34518.1	6q22.1	2014-09-17	2004-04-05	2004-04-07	ENSG00000189241	ENSG00000189241			12382	protein-coding gene	gene with protein product		604714	"""TSPY-like"""	TSPYL		9730615	Standard	NM_003309		Approved		uc003pwp.4	Q9H0U9	OTTHUMG00000015427	ENST00000368608.3:c.722C>T	6.37:g.116600272G>A	ENSP00000357597:p.Thr241Ile		116706965	NM_003309	O75885|Q5TFE6	Missense_Mutation	SNP	ENST00000368608.3	37	CCDS34518.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976411	0.74360	.	.	ENSG00000189241	ENST00000368608	T	0.25912	1.77	4.34	4.34	0.51931	.	0.220419	0.23204	N	0.050760	T	0.13756	0.0333	N	0.14661	0.345	0.30708	N	0.749579	P	0.47253	0.892	P	0.52109	0.69	T	0.02431	-1.1160	10	0.46703	T	0.11	-10.1841	12.641	0.56709	0.0:0.0:1.0:0.0	.	241	Q9H0U9	TSYL1_HUMAN	I	241	ENSP00000357597:T241I	ENSP00000357597:T241I	T	-	2	0	TSPYL1	116706965	0.983000	0.35010	0.949000	0.38748	0.998000	0.95712	1.841000	0.39240	2.700000	0.92200	0.561000	0.74099	ACT		0.582	TSPYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041929.1		
RFX6	222546	broad.mit.edu	37	6	117245901	117245901	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:117245901A>G	ENST00000332958.2	+	15	1641	c.1625A>G	c.(1624-1626)aAt>aGt	p.N542S		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	542					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)	p.N542S(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CAGTTTAATAATGACAAAGAG	0.343																																					p.N542S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1625G	6						.						100.0	100.0	100.0					6																	117245901		2203	4300	6503	117352594	SO:0001583	missense	222546	exon15			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1625A>G	6.37:g.117245901A>G	ENSP00000332208:p.Asn542Ser		117352594	NM_173560	Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.947427	0.73672	.	.	ENSG00000185002	ENST00000332958	T	0.57907	0.37	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.53965	0.1829	M	0.69823	2.125	0.58432	D	0.999998	D	0.59357	0.985	P	0.51079	0.658	T	0.61232	-0.7104	10	0.59425	D	0.04	-21.9444	15.5766	0.76397	1.0:0.0:0.0:0.0	.	542	Q8HWS3	RFX6_HUMAN	S	542	ENSP00000332208:N542S	ENSP00000332208:N542S	N	+	2	0	RFX6	117352594	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.851000	0.92205	2.138000	0.66242	0.533000	0.62120	AAT		0.343	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560	
RFX6	222546	broad.mit.edu	37	6	117248489	117248489	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:117248489G>A	ENST00000332958.2	+	17	2201	c.2185G>A	c.(2185-2187)Gct>Act	p.A729T		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	729					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)	p.A729T(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TCGATGCATGGCTTGGACTGA	0.537																																					p.A729T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2185A	6						.						102.0	92.0	96.0					6																	117248489		2203	4300	6503	117355182	SO:0001583	missense	222546	exon17			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.2185G>A	6.37:g.117248489G>A	ENSP00000332208:p.Ala729Thr		117355182	NM_173560	Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822133	0.50739	.	.	ENSG00000185002	ENST00000332958	T	0.56444	0.46	5.15	3.34	0.38264	.	0.616069	0.17115	N	0.186470	T	0.26122	0.0637	L	0.54323	1.7	0.37427	D	0.913861	B	0.24258	0.1	B	0.18561	0.022	T	0.09487	-1.0672	10	0.49607	T	0.09	-2.292	5.6974	0.17863	0.074:0.1393:0.6423:0.1444	.	729	Q8HWS3	RFX6_HUMAN	T	729	ENSP00000332208:A729T	ENSP00000332208:A729T	A	+	1	0	RFX6	117355182	0.959000	0.32827	0.998000	0.56505	0.997000	0.91878	1.032000	0.30178	0.721000	0.32231	0.655000	0.94253	GCT		0.537	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560	
MAN1A1	4121	broad.mit.edu	37	6	119501033	119501033	+	Missense_Mutation	SNP	A	A	G	rs199809553		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:119501033A>G	ENST00000368468.3	-	13	2354	c.1913T>C	c.(1912-1914)cTc>cCc	p.L638P		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	638					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.L638P(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		GAGGATAGGGAGAAGATGTGC	0.358																																					p.L638P	Ovarian(136;8 1825 12608 33541 47587)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1913C	6						.						95.0	95.0	95.0					6																	119501033		2203	4300	6503	119542732	SO:0001583	missense	4121	exon13			AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.1913T>C	6.37:g.119501033A>G	ENSP00000357453:p.Leu638Pro		119542732	NM_005907	E7EU32|Q6P052|Q9NU44|Q9UJI3	Missense_Mutation	SNP	ENST00000368468.3	37	CCDS5122.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	A	21.3	4.122755	0.77436	.	.	ENSG00000111885	ENST00000368468	T	0.81078	-1.45	5.76	5.76	0.90799	.	0.133094	0.52532	D	0.000067	D	0.93154	0.7820	H	0.98466	4.24	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	D	0.95728	0.8772	10	0.87932	D	0	-19.6038	16.071	0.80936	1.0:0.0:0.0:0.0	.	638	P33908	MA1A1_HUMAN	P	638	ENSP00000357453:L638P	ENSP00000357453:L638P	L	-	2	0	MAN1A1	119542732	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.923000	0.92808	2.199000	0.70637	0.528000	0.53228	CTC		0.358	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042015.1	NM_005907	
TBC1D32	221322	broad.mit.edu	37	6	121412093	121412093	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:121412093T>A	ENST00000398212.2	-	31	3609	c.3560A>T	c.(3559-3561)gAt>gTt	p.D1187V	TBC1D32_ENST00000275159.6_Missense_Mutation_p.D1228V|TBC1D32_ENST00000398197.2_5'UTR	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	1187	Rab-GAP TBC.				cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)	p.D1187V(1)									CACTTGATAATCAGGACCAAG	0.348																																					p.D1187V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3560T	6						.						138.0	136.0	136.0					6																	121412093		1840	4087	5927	121453792	SO:0001583	missense	221322	exon31			AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.3560A>T	6.37:g.121412093T>A	ENSP00000381270:p.Asp1187Val		121453792	NM_152730	Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.183431	0.78677	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.27557	1.66;1.66	5.17	5.17	0.71159	Rab-GAP/TBC domain (1);	0.000000	0.85682	D	0.000000	T	0.45518	0.1346	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.49688	-0.8913	10	0.87932	D	0	.	14.3346	0.66581	0.0:0.0:0.0:1.0	.	1187	Q96NH3	BROMI_HUMAN	V	1228;1187	ENSP00000275159:D1228V;ENSP00000381270:D1187V	ENSP00000275159:D1228V	D	-	2	0	C6orf170	121453792	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.563000	0.82314	2.163000	0.67991	0.477000	0.44152	GAT		0.348	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730	
ECHDC1	55862	broad.mit.edu	37	6	127611168	127611168	+	Missense_Mutation	SNP	G	G	A	rs201025879		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:127611168G>A	ENST00000531967.1	-	6	1273	c.770C>T	c.(769-771)cCg>cTg	p.P257L	ECHDC1_ENST00000430841.2_Missense_Mutation_p.P251L|ECHDC1_ENST00000454591.2_Missense_Mutation_p.P176L|ECHDC1_ENST00000368291.2_3'UTR|ECHDC1_ENST00000488087.1_5'Flank|ECHDC1_ENST00000368289.2_3'UTR|ECHDC1_ENST00000309620.9_Missense_Mutation_p.P234L|ECHDC1_ENST00000454859.3_Missense_Mutation_p.P251L|ECHDC1_ENST00000528402.1_3'UTR|ECHDC1_ENST00000474289.2_Missense_Mutation_p.P251L	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	257						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxy-lyase activity (GO:0016831)|methylmalonyl-CoA decarboxylase activity (GO:0004492)	p.P257L(1)		large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		AATTACTTCCGGTGGCCCTTG	0.398																																					p.P251L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C752T	6						.						143.0	137.0	139.0					6																	127611168		1845	4082	5927	127652861	SO:0001583	missense	55862	exon6			AK025796	CCDS34530.1, CCDS43504.1, CCDS47471.1, CCDS47472.1, CCDS55054.1	6q22.33	2011-12-12	2010-04-30		ENSG00000093144	ENSG00000093144			21489	protein-coding gene	gene with protein product		612136	"""enoyl Coenzyme A hydratase domain containing 1"""			22016388	Standard	NM_001002030		Approved	dJ351K20.2	uc003qax.3	Q9NTX5	OTTHUMG00000015523	ENST00000531967.1:c.770C>T	6.37:g.127611168G>A	ENSP00000436585:p.Pro257Leu		127652861	NM_001002030	A6NFJ5|B7Z8S0|E9PEN7|E9PR31|F8W851|Q5TEF6|Q5TEF7|Q5TEG0|Q5TEG4|Q9NZ30|V9HW18	Missense_Mutation	SNP	ENST00000531967.1	37	CCDS47471.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.701538	0.30142	.	.	ENSG00000093144	ENST00000454859;ENST00000531967;ENST00000474289;ENST00000454591;ENST00000309620;ENST00000430841	T;T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93;-0.93	5.52	3.73	0.42828	.	0.355584	0.33875	N	0.004480	T	0.50565	0.1623	L	0.43757	1.38	0.45634	D	0.998567	B	0.29612	0.251	B	0.21360	0.034	T	0.57768	-0.7754	10	0.49607	T	0.09	.	12.3774	0.55287	0.1392:0.0:0.8608:0.0	.	257	Q9NTX5	ECHD1_HUMAN	L	251;257;251;176;234;251	ENSP00000401751:P251L;ENSP00000436585:P257L;ENSP00000434908:P251L;ENSP00000404866:P176L;ENSP00000311115:P234L;ENSP00000402492:P251L	ENSP00000311115:P234L	P	-	2	0	ECHDC1	127652861	1.000000	0.71417	0.550000	0.28217	0.181000	0.23173	5.227000	0.65305	1.331000	0.45412	0.563000	0.77884	CCG		0.398	ECHDC1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042131.2		
PTPRK	5796	broad.mit.edu	37	6	128306906	128306906	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:128306906A>T	ENST00000368215.3	-	22	3207	c.3208T>A	c.(3208-3210)Tca>Aca	p.S1070T	PTPRK_ENST00000368213.5_Missense_Mutation_p.S1077T|PTPRK_ENST00000368210.3_Missense_Mutation_p.S1089T|PTPRK_ENST00000532331.1_Missense_Mutation_p.S1093T|PTPRK_ENST00000368226.4_Missense_Mutation_p.S1071T|PTPRK_ENST00000368227.3_Missense_Mutation_p.S1088T|PTPRK_ENST00000368207.3_Missense_Mutation_p.S1103T			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1070	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S1071T(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GGAGGGTTTGATAACTTGACT	0.478																																					p.S1071T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3211A	6						.						162.0	149.0	154.0					6																	128306906		2203	4300	6503	128348599	SO:0001583	missense	5796	exon22			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.3208T>A	6.37:g.128306906A>T	ENSP00000357198:p.Ser1070Thr		128348599	NM_002844	B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37		.	.	.	.	.	.	.	.	.	.	A	16.73	3.203171	0.58234	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207	T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53	5.82	5.82	0.92795	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	T	0.30947	0.0781	N	0.17922	0.545	0.80722	D	1	D;D;P;P	0.61697	0.99;0.982;0.64;0.587	D;P;B;B	0.76575	0.988;0.828;0.248;0.16	T	0.19128	-1.0315	10	0.45353	T	0.12	.	16.1676	0.81782	1.0:0.0:0.0:0.0	.	1093;1077;1070;1071	B7ZMG0;Q15262-3;Q15262;Q15262-2	.;.;PTPRK_HUMAN;.	T	1071;1088;1093;1077;1089;1070;1103	ENSP00000357209:S1071T;ENSP00000357210:S1088T;ENSP00000432973:S1093T;ENSP00000357196:S1077T;ENSP00000357193:S1089T;ENSP00000357198:S1070T;ENSP00000357190:S1103T	ENSP00000357190:S1103T	S	-	1	0	PTPRK	128348599	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.188000	0.72045	2.221000	0.72209	0.528000	0.53228	TCA		0.478	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1		
TMEM200A	114801	broad.mit.edu	37	6	130762912	130762912	+	Missense_Mutation	SNP	G	G	A	rs375135807		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:130762912G>A	ENST00000296978.3	+	3	2216	c.1345G>A	c.(1345-1347)Gcc>Acc	p.A449T	TMEM200A_ENST00000545622.1_Missense_Mutation_p.A449T|TMEM200A_ENST00000392429.1_Missense_Mutation_p.A449T	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	449						integral component of membrane (GO:0016021)		p.A449T(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GCCCCAAGTTGCCATCAAAAA	0.393																																					p.A449T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1345A	6						.						101.0	98.0	99.0					6																	130762912		2203	4300	6503	130804605	SO:0001583	missense	114801	exon2			AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.1345G>A	6.37:g.130762912G>A	ENSP00000296978:p.Ala449Thr		130804605	NM_052913	Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	G	9.702	1.154813	0.21371	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.96	1.03	0.20045	.	0.562274	0.18956	N	0.126534	T	0.05273	0.0140	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42396	-0.9454	9	0.13470	T	0.59	-1.655	5.7314	0.18042	0.3369:0.0:0.4818:0.1813	.	449	Q86VY9	T200A_HUMAN	T	449	.	ENSP00000296978:A449T	A	+	1	0	TMEM200A	130804605	0.239000	0.23836	0.010000	0.14722	0.955000	0.61496	1.131000	0.31406	0.214000	0.20742	0.655000	0.94253	GCC		0.393	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913	
GFOD1	54438	broad.mit.edu	37	6	13365334	13365334	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:13365334C>G	ENST00000379287.3	-	2	1478	c.814G>C	c.(814-816)Gcc>Ccc	p.A272P	GFOD1_ENST00000379284.1_Missense_Mutation_p.A169P	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	272						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)	p.A272P(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			TGCTCCGGGGCGCTGTTGCGC	0.692																																					p.A272P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G814C	6						.						27.0	29.0	29.0					6																	13365334		2202	4297	6499	13473313	SO:0001583	missense	54438	exon2			AK000337	CCDS4524.1, CCDS56397.1, CCDS64351.1	6p24.1-p23	2013-09-19			ENSG00000145990	ENSG00000145990			21096	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 114"""	C6orf114			Standard	NM_018988		Approved	FLJ20330, ADG-90	uc003nat.2	Q9NXC2	OTTHUMG00000014276	ENST00000379287.3:c.814G>C	6.37:g.13365334C>G	ENSP00000368589:p.Ala272Pro		13473313	NM_018988	A8E4L6|Q5T058|Q96JD4|Q9H5K2	Missense_Mutation	SNP	ENST00000379287.3	37	CCDS4524.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.722629	0.30503	.	.	ENSG00000145990	ENST00000379287;ENST00000379284	T;T	0.49720	1.38;0.77	5.73	5.73	0.89815	.	0.465703	0.24398	N	0.038863	T	0.32346	0.0826	L	0.42245	1.32	0.43368	D	0.995455	B	0.27229	0.172	B	0.37833	0.259	T	0.14504	-1.0470	10	0.31617	T	0.26	-14.6525	12.5049	0.55975	0.2624:0.7376:0.0:0.0	.	272	Q9NXC2	GFOD1_HUMAN	P	272;169	ENSP00000368589:A272P;ENSP00000368586:A169P	ENSP00000368586:A169P	A	-	1	0	GFOD1	13473313	1.000000	0.71417	0.821000	0.32701	0.309000	0.27889	3.302000	0.51849	2.691000	0.91804	0.650000	0.86243	GCC		0.692	GFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039902.1	NM_018988	
MED23	9439	broad.mit.edu	37	6	131923421	131923421	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:131923421C>T	ENST00000368068.3	-	17	2211	c.2032G>A	c.(2032-2034)Gca>Aca	p.A678T	MED23_ENST00000540546.1_Missense_Mutation_p.A684T|MED23_ENST00000368058.1_Missense_Mutation_p.A684T|MED23_ENST00000354577.4_Missense_Mutation_p.A684T|MED23_ENST00000368053.4_Missense_Mutation_p.A684T|MED23_ENST00000368060.3_Missense_Mutation_p.A678T|MED23_ENST00000545957.1_Missense_Mutation_p.A319T|MED23_ENST00000403834.3_Missense_Mutation_p.A684T	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	678					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)	p.A678T(1)|p.A684T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TCAGATTCTGCTGAGAGCACT	0.453																																					p.A684T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2050A	6						.						164.0	144.0	150.0					6																	131923421		2203	4300	6503	131965114	SO:0001583	missense	9439	exon18			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.2032G>A	6.37:g.131923421C>T	ENSP00000357047:p.Ala678Thr		131965114	NM_015979	B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	ENST00000368068.3	37	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.982835	0.93044	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000540350;ENST00000368058;ENST00000545957;ENST00000368053;ENST00000540546	T;T;T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.72326	0.3446	L	0.32530	0.975	0.80722	D	1	D;B;D;D	0.59357	0.985;0.035;0.967;0.96	P;B;P;P	0.53722	0.718;0.013;0.733;0.614	T	0.68311	-0.5442	10	0.24483	T	0.36	-0.1762	19.8316	0.96638	0.0:1.0:0.0:0.0	.	319;684;678;684	B4E3G4;Q9ULK4-2;Q9ULK4;Q9ULK4-3	.;.;MED23_HUMAN;.	T	684;678;684;678;67;684;319;684;684	ENSP00000346588:A684T;ENSP00000357047:A678T;ENSP00000384536:A684T;ENSP00000357039:A678T;ENSP00000357037:A684T;ENSP00000439977:A319T;ENSP00000357032:A684T;ENSP00000437818:A684T	ENSP00000346588:A684T	A	-	1	0	MED23	131965114	1.000000	0.71417	0.260000	0.24451	0.948000	0.59901	6.089000	0.71384	2.687000	0.91594	0.563000	0.77884	GCA		0.453	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1		
SIRT5	23408	broad.mit.edu	37	6	13592009	13592009	+	Missense_Mutation	SNP	G	G	A	rs547625145		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:13592009G>A	ENST00000606117.1	+	5	654	c.358G>A	c.(358-360)Gcc>Acc	p.A120T	SIRT5_ENST00000379262.4_Missense_Mutation_p.A120T|SIRT5_ENST00000359782.3_Missense_Mutation_p.A120T|SIRT5_ENST00000397350.2_Missense_Mutation_p.A12T	NM_012241.4	NP_036373.1			sirtuin 5									p.A120T(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)			CGGGCACCGCGCCATAGCCGA	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		18034	0.0		0.0	False		,,,				2504	0.001				p.A120T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G358A	6						.						33.0	34.0	33.0					6																	13592009		2203	4298	6501	13699988	SO:0001583	missense	23408	exon5			AF083110	CCDS4526.1, CCDS4527.1, CCDS54966.1, CCDS56398.1	6p23	2010-08-05	2010-06-25		ENSG00000124523	ENSG00000124523			14933	protein-coding gene	gene with protein product		604483	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 5"", ""sirtuin (silent mating type information regulation 2 homolog) 5 (S. cerevisiae)"""			10381378	Standard	NM_012241		Approved		uc003nay.3	Q9NXA8	OTTHUMG00000014278	ENST00000606117.1:c.358G>A	6.37:g.13592009G>A	ENSP00000476228:p.Ala120Thr		13699988	NM_001193267		Missense_Mutation	SNP	ENST00000606117.1	37	CCDS4526.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307933	0.81247	.	.	ENSG00000124523	ENST00000359782;ENST00000379262;ENST00000397350;ENST00000379250	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.73659	0.3615	M	0.92691	3.335	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.994;0.996;0.984	T	0.80527	-0.1343	10	0.72032	D	0.01	-42.4784	18.9939	0.92804	0.0:0.0:1.0:0.0	.	120;120;120	F5H5Z9;Q9NXA8;Q9NXA8-2	.;SIRT5_HUMAN;.	T	120;120;12;120	ENSP00000352830:A120T;ENSP00000368564:A120T;ENSP00000380509:A12T;ENSP00000368552:A120T	ENSP00000352830:A120T	A	+	1	0	SIRT5	13699988	1.000000	0.71417	0.944000	0.38274	0.103000	0.19146	9.420000	0.97426	2.581000	0.87130	0.650000	0.86243	GCC		0.662	SIRT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039908.2		
HBS1L	10767	broad.mit.edu	37	6	135360902	135360902	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:135360902C>T	ENST00000367837.5	-	4	445	c.239G>A	c.(238-240)cGt>cAt	p.R80H	HBS1L_ENST00000367824.4_Intron|HBS1L_ENST00000367826.2_Missense_Mutation_p.R38H|HBS1L_ENST00000445176.2_Intron|HBS1L_ENST00000314674.3_Missense_Mutation_p.R80H|HBS1L_ENST00000525067.1_Missense_Mutation_p.R16H|HBS1L_ENST00000367820.2_Missense_Mutation_p.R80H|HBS1L_ENST00000415177.2_Intron|HBS1L_ENST00000367822.5_Missense_Mutation_p.R80H	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	80					signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)	p.R80H(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		TGAATAAAGACGAGCTAGAAA	0.353																																					p.R80H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G239A	6						.						112.0	107.0	109.0					6																	135360902		2203	4300	6503	135402595	SO:0001583	missense	10767	exon4			U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"""eRF3 family member"""	612450	"""HBS1 (S. cerevisiae)-like"", ""HBS1-like (S. cerevisiae)"""			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.239G>A	6.37:g.135360902C>T	ENSP00000356811:p.Arg80His		135402595	NM_001145207	B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	ENST00000367837.5	37	CCDS5173.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026130	0.75390	.	.	ENSG00000112339	ENST00000367837;ENST00000367826;ENST00000314674;ENST00000524715;ENST00000529882;ENST00000367822;ENST00000367820;ENST00000525067	T;T	0.68181	-0.31;-0.1	5.23	5.23	0.72850	Domain of unknown function DUF1916 (2);	0.098052	0.64402	D	0.000003	T	0.77011	0.4068	M	0.77103	2.36	0.80722	D	1	P;D;D	0.76494	0.95;0.999;0.968	B;D;P	0.72338	0.441;0.977;0.755	T	0.80469	-0.1369	10	0.87932	D	0	-10.9973	13.1433	0.59446	0.0:0.9226:0.0:0.0774	.	38;80;80	Q9Y450-4;Q9Y450-2;Q9Y450	.;.;HBS1L_HUMAN	H	80;38;80;58;95;80;80;16	ENSP00000356811:R80H;ENSP00000356800:R38H	ENSP00000323566:R80H	R	-	2	0	HBS1L	135402595	0.995000	0.38212	1.000000	0.80357	0.748000	0.42578	1.005000	0.29834	2.440000	0.82611	0.484000	0.47621	CGT		0.353	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2		
OLIG3	167826	broad.mit.edu	37	6	137815219	137815219	+	Missense_Mutation	SNP	T	T	C	rs541674248	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:137815219T>C	ENST00000367734.2	-	1	312	c.89A>G	c.(88-90)cAc>cGc	p.H30R		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	30	Poly-His.				spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.H30R(1)		endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		Ctggtggtggtggtggcggtg	0.587																																					p.H30R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A89G	6						.						53.0	57.0	56.0					6																	137815219		2203	4300	6503	137856912	SO:0001583	missense	167826	exon1			AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"""Basic helix-loop-helix proteins"""	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.89A>G	6.37:g.137815219T>C	ENSP00000356708:p.His30Arg		137856912	NM_175747	Q8N8Q0	Missense_Mutation	SNP	ENST00000367734.2	37	CCDS5186.1	.	.	.	.	.	.	.	.	.	.	T	14.02	2.410692	0.42817	.	.	ENSG00000177468	ENST00000367734	D	0.99418	-5.87	5.55	5.55	0.83447	.	0.133713	0.32258	N	0.006353	D	0.93789	0.8014	N	0.03608	-0.345	0.40238	D	0.977925	P	0.49783	0.928	B	0.38880	0.284	D	0.95951	0.8954	10	0.15066	T	0.55	-7.5587	13.9229	0.63942	0.0:0.0:0.0:1.0	.	30	Q7RTU3	OLIG3_HUMAN	R	30	ENSP00000356708:H30R	ENSP00000356708:H30R	H	-	2	0	OLIG3	137856912	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.511000	0.67024	2.095000	0.63458	0.482000	0.46254	CAC		0.587	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	NM_175747	
TXLNB	167838	broad.mit.edu	37	6	139564385	139564385	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:139564385G>A	ENST00000358430.3	-	10	1565	c.1333C>T	c.(1333-1335)Cgt>Tgt	p.R445C	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	445						cytoplasm (GO:0005737)		p.R445S(1)|p.R445C(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TGTAAAGCACGGCAGAGGTTC	0.433																																					p.R445C												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C1333T	6						.						67.0	66.0	66.0					6																	139564385		2203	4300	6503	139606078	SO:0001583	missense	167838	exon10				CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"""chromosome 6 open reading frame 198"""	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.1333C>T	6.37:g.139564385G>A	ENSP00000351206:p.Arg445Cys		139606078	NM_153235	Q5VTF3|Q76L25|Q86T52|Q8N3S2	Missense_Mutation	SNP	ENST00000358430.3	37	CCDS34545.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.983016	0.74474	.	.	ENSG00000164440	ENST00000358430	T	0.42131	0.98	6.06	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.66268	0.2772	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71241	-0.4651	9	.	.	.	-13.3987	15.9512	0.79840	0.0:0.0:0.7919:0.2081	.	445	Q8N3L3	TXLNB_HUMAN	C	445	ENSP00000351206:R445C	.	R	-	1	0	TXLNB	139606078	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.625000	0.46452	2.882000	0.98803	0.655000	0.94253	CGT		0.433	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	NM_153235	
GPR126	57211	broad.mit.edu	37	6	142723862	142723862	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:142723862T>C	ENST00000230173.6	+	13	2326	c.1850T>C	c.(1849-1851)gTg>gCg	p.V617A	GPR126_ENST00000367608.2_Missense_Mutation_p.V589A|GPR126_ENST00000296932.8_Missense_Mutation_p.V589A|GPR126_ENST00000367609.3_Missense_Mutation_p.V617A	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	617					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V617A(1)|p.V588A(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		AAAAGAATTGTGAATAAAGAA	0.338																																					p.V589A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1766C	6						.						73.0	71.0	71.0					6																	142723862		1828	4077	5905	142765555	SO:0001583	missense	57211	exon12			AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.1850T>C	6.37:g.142723862T>C	ENSP00000230173:p.Val617Ala		142765555	NM_001032394	Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	CCDS47490.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.355737	0.82243	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609	T;T;T;T	0.27402	1.71;1.69;1.72;1.67	5.66	5.66	0.87406	.	0.000000	0.56097	D	0.000022	T	0.47838	0.1467	M	0.71581	2.175	0.48696	D	0.999696	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.996	T	0.52283	-0.8596	10	0.66056	D	0.02	.	15.9059	0.79430	0.0:0.0:0.0:1.0	.	589;617;589;617	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4	.;.;.;GP126_HUMAN	A	617;589;589;617	ENSP00000230173:V617A;ENSP00000356580:V589A;ENSP00000296932:V589A;ENSP00000356581:V617A	ENSP00000230173:V617A	V	+	2	0	GPR126	142765555	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	5.606000	0.67641	2.154000	0.67381	0.533000	0.62120	GTG		0.338	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2		
STX11	8676	broad.mit.edu	37	6	144508227	144508227	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:144508227G>A	ENST00000367568.4	+	2	646	c.463G>A	c.(463-465)Gac>Aac	p.D155N		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	155					cytotoxic T cell degranulation (GO:0043316)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|natural killer cell degranulation (GO:0043320)|neutrophil degranulation (GO:0043312)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	SNAP receptor activity (GO:0005484)	p.D155N(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GAAGCAGCGCGACAACTGCAA	0.622									Familial Hemophagocytic Lymphohistiocytosis																												p.D155N												.	.	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	c.G463A	6						.						47.0	45.0	46.0					6																	144508227		2203	4300	6503	144549920	SO:0001583	missense	8676	exon2	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604			11429	protein-coding gene	gene with protein product		605014				9553086	Standard	NM_003764		Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.463G>A	6.37:g.144508227G>A	ENSP00000356540:p.Asp155Asn		144549920	NM_003764	E1P598|O75378|O95148|Q5TCL6	Missense_Mutation	SNP	ENST00000367568.4	37	CCDS5205.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.853927	0.71719	.	.	ENSG00000135604	ENST00000367568	T	0.22336	1.96	5.61	4.71	0.59529	t-SNARE (1);Syntaxin, N-terminal (1);	0.452872	0.26311	N	0.025117	T	0.10035	0.0246	L	0.46157	1.445	0.53005	D	0.999967	B	0.33238	0.403	B	0.20384	0.029	T	0.03278	-1.1053	10	0.72032	D	0.01	-10.834	15.8989	0.79356	0.0:0.1359:0.8641:0.0	.	155	O75558	STX11_HUMAN	N	155	ENSP00000356540:D155N	ENSP00000356540:D155N	D	+	1	0	STX11	144549920	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.641000	0.67881	1.310000	0.45006	0.655000	0.94253	GAC		0.622	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042544.1		
UTRN	7402	broad.mit.edu	37	6	144782343	144782343	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:144782343C>T	ENST00000367545.3	+	21	2718	c.2718C>T	c.(2716-2718)ggC>ggT	p.G906G		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	906					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.G906G(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AACTGAAGGGCCAACCTGGAC	0.318																																					p.G906G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2718T	6						.						73.0	78.0	76.0					6																	144782343		2203	4300	6503	144824036	SO:0001819	synonymous_variant	7402	exon21			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.2718C>T	6.37:g.144782343C>T			144824036	NM_007124	Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	37	CCDS34547.1																																																																																				0.318	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1		
SHPRH	257218	broad.mit.edu	37	6	146207910	146207910	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:146207910A>T	ENST00000367505.2	-	30	5233	c.4969T>A	c.(4969-4971)Tca>Aca	p.S1657T	SHPRH_ENST00000438092.2_Intron|RP11-545I5.3_ENST00000606388.1_RNA|SHPRH_ENST00000275233.7_Missense_Mutation_p.S1657T|SHPRH_ENST00000367503.3_Missense_Mutation_p.S1661T			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1657	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S1661T(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TGCTTTGCTGATGAGTTCGTG	0.423																																					p.S1657T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4969A	6						.						75.0	76.0	75.0					6																	146207910		1893	4126	6019	146249603	SO:0001583	missense	257218	exon30			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.4969T>A	6.37:g.146207910A>T	ENSP00000356475:p.Ser1657Thr		146249603	NM_001042683	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	A	10.23	1.293358	0.23564	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000275233	T;T;T	0.76060	-0.99;-0.99;-0.99	6.07	0.694	0.18062	Helicase, C-terminal (1);	0.378991	0.24377	N	0.039045	T	0.32496	0.0831	N	0.17872	0.535	0.45087	D	0.998101	B	0.26902	0.163	B	0.20384	0.029	T	0.09885	-1.0654	10	0.13853	T	0.58	-1.936	8.9971	0.36059	0.5789:0.359:0.0621:0.0	.	1657	Q149N8	SHPRH_HUMAN	T	1657;1661;1657	ENSP00000356475:S1657T;ENSP00000356473:S1661T;ENSP00000275233:S1657T	ENSP00000275233:S1657T	S	-	1	0	SHPRH	146249603	0.723000	0.28027	0.002000	0.10522	0.601000	0.36947	0.952000	0.29149	-0.089000	0.12484	0.477000	0.44152	TCA		0.423	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082	
SHPRH	257218	broad.mit.edu	37	6	146243832	146243832	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:146243832C>T	ENST00000367505.2	-	19	3950	c.3686G>A	c.(3685-3687)tGt>tAt	p.C1229Y	SHPRH_ENST00000438092.2_Missense_Mutation_p.C1233Y|SHPRH_ENST00000275233.7_Missense_Mutation_p.C1229Y|SHPRH_ENST00000367503.3_Missense_Mutation_p.C1233Y			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1229					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.C1233Y(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TCGGAGGTGACAGACTGTTGC	0.408																																					p.C1233Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3698A	6						.						87.0	87.0	87.0					6																	146243832		1887	4104	5991	146285525	SO:0001583	missense	257218	exon19			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.3686G>A	6.37:g.146243832C>T	ENSP00000356475:p.Cys1229Tyr		146285525	NM_173082	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644796	0.87859	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	D;D;D;D	0.86769	-2.06;-2.17;-2.17;-2.06	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.92146	0.7510	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	D	0.92489	0.5999	10	0.72032	D	0.01	-11.4971	19.0974	0.93258	0.0:1.0:0.0:0.0	.	428;1229;1233	B3KX98;Q149N8;Q149N8-4	.;SHPRH_HUMAN;.	Y	1229;1233;1233;1229	ENSP00000356475:C1229Y;ENSP00000356473:C1233Y;ENSP00000412797:C1233Y;ENSP00000275233:C1229Y	ENSP00000275233:C1229Y	C	-	2	0	SHPRH	146285525	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.616000	0.83018	2.593000	0.87608	0.650000	0.86243	TGT		0.408	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082	
ZC3H12D	340152	broad.mit.edu	37	6	149773830	149773830	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:149773830G>A	ENST00000409806.3	-	5	1027	c.709C>T	c.(709-711)Cgc>Tgc	p.R237C	ZC3H12D_ENST00000389942.5_Missense_Mutation_p.R237C|ZC3H12D_ENST00000542614.1_Missense_Mutation_p.R237C|ZC3H12D_ENST00000416573.2_Missense_Mutation_p.R237C			A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	237					negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.R237C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		GGTCCATGGCGGCCCAGGGGG	0.602																																					p.R237C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C709T	6						.						29.0	35.0	33.0					6																	149773830		1920	4113	6033	149815523	SO:0001583	missense	340152	exon5					6q25.1	2012-07-05	2005-06-30	2005-06-30	ENSG00000178199	ENSG00000178199		"""Zinc fingers, CCCH-type domain containing"""	21175	protein-coding gene	gene with protein product	"""MCP induced protein 4"""	611106	"""chromosome 6 open reading frame 95"""	C6orf95		18178554	Standard	NM_207360		Approved	dJ281H8.1, MCPIP4	uc010kid.3	A2A288	OTTHUMG00000015786	ENST00000409806.3:c.709C>T	6.37:g.149773830G>A	ENSP00000386616:p.Arg237Cys		149815523	NM_207360	A1L178|B2RXF4|B7WNU7|B9ZZP9|B9ZZQ0|Q6ZRW2	Missense_Mutation	SNP	ENST00000409806.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.71|19.71	3.879103|3.879103	0.72294|0.72294	.|.	.|.	ENSG00000178199|ENSG00000178199	ENST00000458251|ENST00000389942;ENST00000416573;ENST00000409806;ENST00000542614	.|T;T;T;T	.|0.61742	.|0.08;0.08;0.08;0.08	4.6|4.6	4.6|4.6	0.57074|0.57074	.|Ribonuclease Zc3h12a-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81230|0.81230	0.4779|0.4779	H|H	0.95816|0.95816	3.725|3.725	0.58432|0.58432	D|D	0.999991|0.999991	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	D|D	0.87315|0.87315	0.2314|0.2314	5|10	.|0.87932	.|D	.|0	-21.1995|-21.1995	17.6256|17.6256	0.88093|0.88093	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|237;237	.|A2A288;B7WNU7	.|ZC12D_HUMAN;.	L|C	78|237	.|ENSP00000374592:R237C;ENSP00000408686:R237C;ENSP00000386616:R237C;ENSP00000440813:R237C	.|ENSP00000374592:R237C	P|R	-|-	2|1	0|0	ZC3H12D|ZC3H12D	149815523|149815523	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.763000|0.763000	0.43281|0.43281	3.717000|3.717000	0.54911|0.54911	2.395000|2.395000	0.81488|0.81488	0.561000|0.561000	0.74099|0.74099	CCG|CGC		0.602	ZC3H12D-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000286400.2	NM_207360	
CCDC170	80129	broad.mit.edu	37	6	151865757	151865757	+	Missense_Mutation	SNP	G	G	A	rs376388158		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:151865757G>A	ENST00000239374.7	+	4	593	c.494G>A	c.(493-495)tGc>tAc	p.C165Y	CCDC170_ENST00000544131.1_3'UTR|CCDC170_ENST00000367290.5_Missense_Mutation_p.C165Y	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	165								p.C165Y(1)									TCAAAGAATTGCAGGAAACAT	0.353																																					p.C165Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G494A	6						.	G	TYR/CYS	0,3748		0,0,1874	95.0	92.0	93.0		494	2.5	0.0	6		93	1,8215		0,1,4107	no	missense	C6orf97	NM_025059.3	194	0,1,5981	AA,AG,GG		0.0122,0.0,0.0084	possibly-damaging	165/716	151865757	1,11963	1874	4108	5982	151907450	SO:0001583	missense	80129	exon4			AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.494G>A	6.37:g.151865757G>A	ENSP00000239374:p.Cys165Tyr		151907450	NM_025059	Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	G	2.791	-0.251260	0.05867	0.0	1.22E-4	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.08370	3.11;3.1	5.6	2.51	0.30379	.	0.822873	0.11780	N	0.530206	T	0.03695	0.0105	L	0.57536	1.79	0.20764	N	0.999853	D	0.56287	0.975	B	0.43536	0.423	T	0.40831	-0.9542	10	0.26408	T	0.33	3.9309	9.1579	0.37005	0.0:0.1312:0.5002:0.3686	.	165	Q8IYT3	CF097_HUMAN	Y	165	ENSP00000239374:C165Y;ENSP00000356259:C165Y	ENSP00000239374:C165Y	C	+	2	0	C6orf97	151907450	0.973000	0.33851	0.023000	0.16930	0.006000	0.05464	2.066000	0.41452	0.245000	0.21373	-1.045000	0.02358	TGC		0.353	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059	
CCDC170	80129	broad.mit.edu	37	6	151869443	151869443	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:151869443G>A	ENST00000239374.7	+	5	692	c.593G>A	c.(592-594)aGa>aAa	p.R198K	CCDC170_ENST00000367290.5_Missense_Mutation_p.R198K	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	198								p.R198K(1)									CTTCAGCTTAGAGACCTGCGC	0.343																																					p.R198K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G593A	6						.						53.0	49.0	50.0					6																	151869443		1829	4082	5911	151911136	SO:0001583	missense	80129	exon5			AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.593G>A	6.37:g.151869443G>A	ENSP00000239374:p.Arg198Lys		151911136	NM_025059	Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	G	8.650	0.898017	0.17686	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.08984	3.03;3.03	5.48	3.68	0.42216	.	0.534254	0.20622	N	0.088745	T	0.01353	0.0044	L	0.29908	0.895	0.18873	N	0.999989	B	0.10296	0.003	B	0.10450	0.005	T	0.48186	-0.9057	10	0.06757	T	0.87	-3.6147	6.7524	0.23495	0.2069:0.1284:0.6646:0.0	.	198	Q8IYT3	CF097_HUMAN	K	198	ENSP00000239374:R198K;ENSP00000356259:R198K	ENSP00000239374:R198K	R	+	2	0	C6orf97	151911136	0.381000	0.25140	0.915000	0.36163	0.914000	0.54420	0.419000	0.21247	0.654000	0.30846	0.585000	0.79938	AGA		0.343	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059	
SYNE1	23345	broad.mit.edu	37	6	152473258	152473258	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:152473258G>T	ENST00000367255.5	-	134	24749	c.24148C>A	c.(24148-24150)Cac>Aac	p.H8050N	SYNE1_ENST00000356820.4_Missense_Mutation_p.H2574N|SYNE1_ENST00000354674.4_Missense_Mutation_p.H205N|SYNE1_ENST00000423061.1_Missense_Mutation_p.H7979N|SYNE1_ENST00000265368.4_Missense_Mutation_p.H8050N|SYNE1_ENST00000341594.5_Missense_Mutation_p.H7662N|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Missense_Mutation_p.H7979N|SYNE1_ENST00000539504.1_Missense_Mutation_p.H205N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8050					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.H8050N(2)		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)		AGGCACTCGTGGACCTGTCGC	0.527										HNSCC(10;0.0054)																											p.H2574N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C7720A	6						.						80.0	71.0	74.0					6																	152473258		2203	4300	6503	152514951	SO:0001583	missense	23345	exon49			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.24148C>A	6.37:g.152473258G>T	ENSP00000356224:p.His8050Asn		152514951	NM_015293	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	.	.	.	.	.	.	.	.	.	.	G	32	5.191615	0.94923	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.32988	1.43;1.71;1.71;1.43;1.43;1.43;1.43;1.71;1.71;1.71	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000015	T	0.49081	0.1536	M	0.70595	2.14	0.80722	D	1	D;D;D;D;D	0.63880	0.992;0.992;0.992;0.986;0.993	P;P;P;P;P	0.62740	0.905;0.905;0.893;0.784;0.906	T	0.44682	-0.9312	10	0.62326	D	0.03	.	20.4192	0.99033	0.0:0.0:1.0:0.0	.	8050;8050;7979;7979;252	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	N	8050;205;696;7979;8050;7979;7662;2574;212;207;972;205	ENSP00000356224:H8050N;ENSP00000441052:H205N;ENSP00000356226:H696N;ENSP00000396024:H7979N;ENSP00000265368:H8050N;ENSP00000390975:H7979N;ENSP00000341887:H7662N;ENSP00000349276:H2574N;ENSP00000356220:H972N;ENSP00000346701:H205N	ENSP00000265368:H8050N	H	-	1	0	SYNE1	152514951	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.624000	0.98398	2.831000	0.97527	0.650000	0.86243	CAC		0.527	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152558055	152558055	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:152558055T>C	ENST00000367255.5	-	109	20697	c.20096A>G	c.(20095-20097)cAg>cGg	p.Q6699R	SYNE1_ENST00000356820.4_Missense_Mutation_p.Q1223R|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q6628R|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q6699R|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q6311R|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q6628R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6699					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.Q6699R(2)		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)		GCTGAGCTCCTGCTGGTCCTC	0.512										HNSCC(10;0.0054)																											p.Q1223R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A3668G	6						.						97.0	74.0	82.0					6																	152558055		2203	4300	6503	152599748	SO:0001583	missense	23345	exon24			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.20096A>G	6.37:g.152558055T>C	ENSP00000356224:p.Gln6699Arg		152599748	NM_015293	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	.	.	.	.	.	.	.	.	.	.	T	12.88	2.070093	0.36566	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37	5.48	0.202	0.15190	.	0.218790	0.32204	N	0.006432	T	0.18759	0.0450	M	0.71581	2.175	0.38928	D	0.957878	B;B;B	0.27166	0.106;0.106;0.17	B;B;B	0.32583	0.071;0.071;0.148	T	0.04900	-1.0919	10	0.62326	D	0.03	.	4.9496	0.14008	0.1243:0.2155:0.0:0.6602	.	6699;6699;6628	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	R	6699;6628;6699;6628;6311;1223	ENSP00000356224:Q6699R;ENSP00000396024:Q6628R;ENSP00000265368:Q6699R;ENSP00000390975:Q6628R;ENSP00000341887:Q6311R;ENSP00000349276:Q1223R	ENSP00000265368:Q6699R	Q	-	2	0	SYNE1	152599748	1.000000	0.71417	0.130000	0.21974	0.879000	0.50718	3.267000	0.51577	-0.190000	0.10465	0.533000	0.62120	CAG		0.512	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152590404	152590404	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:152590404C>T	ENST00000367255.5	-	99	19192	c.18591G>A	c.(18589-18591)aaG>aaA	p.K6197K	SYNE1_ENST00000356820.4_Silent_p.K721K|SYNE1_ENST00000423061.1_Silent_p.K6126K|SYNE1_ENST00000265368.4_Silent_p.K6197K|SYNE1_ENST00000341594.5_Silent_p.K5809K|SYNE1_ENST00000448038.1_Silent_p.K6126K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6197					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.K6197K(2)		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)		CGCTCTCCTCCTTCTCCTGTG	0.562										HNSCC(10;0.0054)																											p.K721K												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G2163A	6						.						159.0	121.0	134.0					6																	152590404		2203	4300	6503	152632097	SO:0001819	synonymous_variant	23345	exon14			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.18591G>A	6.37:g.152590404C>T			152632097	NM_015293	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	CCDS5236.2																																																																																				0.562	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
FOXC1	2296	broad.mit.edu	37	6	1611195	1611195	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:1611195G>A	ENST00000380874.2	+	1	515	c.515G>A	c.(514-516)cGg>cAg	p.R172Q		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	172	Poly-Arg.				artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.R172Q(1)		large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		CGGCGGCGGCGGCGCTTCAAG	0.697																																					p.R172Q	Pancreas(133;719 1821 3197 26645 35015)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G515A	6						.						24.0	26.0	25.0					6																	1611195		2203	4300	6503	1556194	SO:0001583	missense	2296	exon1			AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598		"""Forkhead boxes"""	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1		7957066, 9620769	Standard	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.515G>A	6.37:g.1611195G>A	ENSP00000370256:p.Arg172Gln		1556194	NM_001453	Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	Missense_Mutation	SNP	ENST00000380874.2	37	CCDS4473.1	.	.	.	.	.	.	.	.	.	.	g	23.3	4.396252	0.83011	.	.	ENSG00000054598	ENST00000541209;ENST00000380874	D	0.95412	-3.7	3.66	3.66	0.41972	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (2);	0.000000	0.64402	U	0.000006	D	0.96494	0.8856	M	0.74467	2.265	0.54753	D	0.999984	D	0.65815	0.995	D	0.62955	0.909	D	0.97050	0.9763	10	0.87932	D	0	.	14.9697	0.71223	0.0:0.0:1.0:0.0	.	172	Q12948	FOXC1_HUMAN	Q	172	ENSP00000370256:R172Q	ENSP00000370256:R172Q	R	+	2	0	FOXC1	1556194	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.732000	0.62029	1.578000	0.49821	0.401000	0.26515	CGG		0.697	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043450.1		
JARID2	3720	broad.mit.edu	37	6	15501212	15501212	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:15501212C>T	ENST00000341776.2	+	8	2264	c.2020C>T	c.(2020-2022)Ctc>Ttc	p.L674F	JARID2_ENST00000397311.3_Missense_Mutation_p.L502F|JARID2_ENST00000541660.1_Missense_Mutation_p.L636F	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	674	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.L674F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AGTGACTGACCTCAAAAAATG	0.567																																					p.L674F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2020T	6						.						97.0	102.0	100.0					6																	15501212		2203	4300	6503	15609191	SO:0001583	missense	3720	exon8			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.2020C>T	6.37:g.15501212C>T	ENSP00000341280:p.Leu674Phe		15609191	NM_004973	A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107625	0.77096	.	.	ENSG00000008083	ENST00000341776;ENST00000397311;ENST00000541660	T;T;T	0.42131	0.98;0.98;0.98	5.15	5.15	0.70609	ARID/BRIGHT DNA-binding domain (5);	0.000000	0.85682	D	0.000000	T	0.54481	0.1861	L	0.54323	1.7	0.58432	D	0.999999	D;D	0.64830	0.994;0.987	D;D	0.77004	0.989;0.988	T	0.57207	-0.7851	10	0.62326	D	0.03	-13.3748	18.621	0.91321	0.0:1.0:0.0:0.0	.	636;674	F5H590;Q92833	.;JARD2_HUMAN	F	674;502;636	ENSP00000341280:L674F;ENSP00000380478:L502F;ENSP00000444623:L636F	ENSP00000341280:L674F	L	+	1	0	JARID2	15609191	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.817000	0.69229	2.396000	0.81511	0.561000	0.74099	CTC		0.567	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973	
JARID2	3720	broad.mit.edu	37	6	15512479	15512479	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:15512479A>G	ENST00000341776.2	+	14	3237	c.2993A>G	c.(2992-2994)cAc>cGc	p.H998R	JARID2_ENST00000397311.3_Missense_Mutation_p.H826R	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	998	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.H998R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				ATCAAGGTGCACAGGACCGTG	0.602																																					p.H998R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2993G	6						.						161.0	122.0	135.0					6																	15512479		2203	4300	6503	15620458	SO:0001583	missense	3720	exon14			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.2993A>G	6.37:g.15512479A>G	ENSP00000341280:p.His998Arg		15620458	NM_004973	A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.316734	0.81469	.	.	ENSG00000008083	ENST00000341776;ENST00000397311	T;T	0.70399	-0.48;-0.48	4.88	4.88	0.63580	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.048623	0.85682	D	0.000000	T	0.63379	0.2506	L	0.29908	0.895	0.58432	D	0.999995	D	0.71674	0.998	P	0.60236	0.871	T	0.62918	-0.6752	10	0.26408	T	0.33	-15.2761	14.7676	0.69651	1.0:0.0:0.0:0.0	.	998	Q92833	JARD2_HUMAN	R	998;826	ENSP00000341280:H998R;ENSP00000380478:H826R	ENSP00000341280:H998R	H	+	2	0	JARID2	15620458	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.271000	0.95698	1.945000	0.56424	0.413000	0.27773	CAC		0.602	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973	
SYNE1	23345	broad.mit.edu	37	6	152826449	152826449	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:152826449G>A	ENST00000367255.5	-	9	1266	c.665C>T	c.(664-666)cCg>cTg	p.P222L	SYNE1_ENST00000413186.2_Missense_Mutation_p.P222L|SYNE1_ENST00000367248.3_Missense_Mutation_p.P229L|SYNE1_ENST00000423061.1_Missense_Mutation_p.P229L|SYNE1_ENST00000265368.4_Missense_Mutation_p.P222L|SYNE1_ENST00000341594.5_Missense_Mutation_p.P222L|SYNE1_ENST00000367253.4_Missense_Mutation_p.P222L|SYNE1_ENST00000448038.1_Missense_Mutation_p.P229L|SYNE1_ENST00000466159.2_Missense_Mutation_p.P222L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	222	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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.P222L(2)		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)		CACCAATTCCGGTCGAATGGC	0.448										HNSCC(10;0.0054)																											p.P229L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C686T	6						.						137.0	117.0	123.0					6																	152826449		2203	4300	6503	152868142	SO:0001583	missense	23345	exon9			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.665C>T	6.37:g.152826449G>A	ENSP00000356224:p.Pro222Leu		152868142	NM_033071	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	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963566	0.74016	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000466159;ENST00000537750	D;D;D;D;D;D;D;D;D;D	0.97941	-4.62;-4.62;-4.62;-4.62;-4.62;-4.62;-4.62;-4.62;-4.62;-4.62	5.74	5.74	0.90152	Calponin homology domain (5);	0.199738	0.35585	N	0.003114	D	0.99208	0.9725	H	0.94264	3.515	0.80722	D	1	B;P;B;D;D	0.89917	0.027;0.927;0.026;1.0;1.0	B;B;B;D;D	0.97110	0.026;0.404;0.024;1.0;0.953	D	0.99187	1.0869	10	0.72032	D	0.01	.	19.994	0.97377	0.0:0.0:1.0:0.0	.	222;222;222;222;229	B3W695;Q8NF91;F5H4Q0;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	L	222;229;222;229;222;222;229;222;222;222	ENSP00000356224:P222L;ENSP00000396024:P229L;ENSP00000265368:P222L;ENSP00000390975:P229L;ENSP00000341887:P222L;ENSP00000356222:P222L;ENSP00000356217:P229L;ENSP00000414510:P222L;ENSP00000446021:P222L;ENSP00000441264:P222L	ENSP00000265368:P222L	P	-	2	0	SYNE1	152868142	1.000000	0.71417	0.220000	0.23810	0.955000	0.61496	9.869000	0.99810	2.735000	0.93741	0.638000	0.83543	CCG		0.448	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SERAC1	84947	broad.mit.edu	37	6	158564182	158564182	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:158564182A>G	ENST00000367104.3	-	8	775	c.644T>C	c.(643-645)cTg>cCg	p.L215P	SERAC1_ENST00000367101.1_Missense_Mutation_p.L215P|SERAC1_ENST00000367102.2_Missense_Mutation_p.L215P	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	215					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)	p.L215P(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		TAAGGAAGCCAGCAACTGTCT	0.383																																					p.L215P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T644C	6						.						117.0	115.0	116.0					6																	158564182		2203	4300	6503	158484170	SO:0001583	missense	84947	exon8			BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.644T>C	6.37:g.158564182A>G	ENSP00000356071:p.Leu215Pro		158484170	NM_032861	Q49AT1|Q5VTX3|Q6PKF3	Missense_Mutation	SNP	ENST00000367104.3	37	CCDS5255.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.077460	0.76528	.	.	ENSG00000122335	ENST00000367102;ENST00000367104;ENST00000367101	T;T;T	0.48836	0.8;0.8;0.8	5.79	5.79	0.91817	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.59459	0.2195	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65175	-0.6232	10	0.87932	D	0	-14.3798	15.1068	0.72326	1.0:0.0:0.0:0.0	.	215	Q96JX3	SRAC1_HUMAN	P	215	ENSP00000356069:L215P;ENSP00000356071:L215P;ENSP00000356068:L215P	ENSP00000356068:L215P	L	-	2	0	SERAC1	158484170	1.000000	0.71417	0.995000	0.50966	0.794000	0.44872	7.964000	0.87933	0.362000	0.24319	0.557000	0.71058	CTG		0.383	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	NM_032861	
TULP4	56995	broad.mit.edu	37	6	158919740	158919740	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:158919740A>G	ENST00000367097.3	+	12	3267	c.1910A>G	c.(1909-1911)cAg>cGg	p.Q637R	TULP4_ENST00000367094.2_Missense_Mutation_p.Q637R	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	637					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q637R(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CAGCCGCGGCAGATGACCATT	0.428																																					p.Q637R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1910G	6						.						91.0	94.0	93.0					6																	158919740		2203	4300	6503	158839728	SO:0001583	missense	56995	exon12				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.1910A>G	6.37:g.158919740A>G	ENSP00000356064:p.Gln637Arg		158839728	NM_001007466	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.028735	0.75504	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	D;D	0.83914	-1.78;-1.78	5.77	5.77	0.91146	Tubby, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.68924	0.3054	L	0.52905	1.665	0.80722	D	1	B;P	0.40144	0.302;0.704	B;B	0.28139	0.085;0.086	T	0.77571	-0.2538	10	0.87932	D	0	-26.9324	14.6668	0.68915	1.0:0.0:0.0:0.0	.	637;637	Q9NRJ4-2;Q9NRJ4	.;TULP4_HUMAN	R	637	ENSP00000356064:Q637R;ENSP00000356061:Q637R	ENSP00000356061:Q637R	Q	+	2	0	TULP4	158839728	1.000000	0.71417	0.999000	0.59377	0.844000	0.47949	8.762000	0.91711	2.199000	0.70637	0.533000	0.62120	CAG		0.428	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245	
SYTL3	94120	broad.mit.edu	37	6	159185590	159185590	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:159185590T>C	ENST00000297239.9	+	17	1981	c.1787T>C	c.(1786-1788)cTt>cCt	p.L596P	MIR3918_ENST00000581555.1_RNA|SYTL3_ENST00000360448.3_Missense_Mutation_p.L528P|SYTL3_ENST00000367081.3_Missense_Mutation_p.L322P			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	596					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)	p.L528P(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		CAGAAAGTCCTTTCCAGCCCC	0.547																																					p.L528P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1583C	6						.						155.0	114.0	128.0					6																	159185590		2203	4300	6503	159105578	SO:0001583	missense	94120	exon17			AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.1787T>C	6.37:g.159185590T>C	ENSP00000297239:p.Leu596Pro		159105578	NM_001009991	Q496J4|Q496J6|Q5U3B9	Missense_Mutation	SNP	ENST00000297239.9	37	CCDS56458.1	.	.	.	.	.	.	.	.	.	.	T	16.38	3.108215	0.56291	.	.	ENSG00000164674	ENST00000360448;ENST00000297239;ENST00000367081	T;T;T	0.65178	1.94;1.94;-0.14	4.36	4.36	0.52297	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.36815	N	0.002398	T	0.59918	0.2229	L	0.34521	1.04	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.72338	0.964;0.921;0.977	T	0.66044	-0.6021	10	0.66056	D	0.02	.	11.7636	0.51918	0.0:0.0:0.0:1.0	.	322;596;528	F8W7H4;Q4VX76;Q4VX76-2	.;SYTL3_HUMAN;.	P	528;596;322	ENSP00000353631:L528P;ENSP00000297239:L596P;ENSP00000356048:L322P	ENSP00000297239:L596P	L	+	2	0	SYTL3	159105578	0.576000	0.26700	0.197000	0.23402	0.860000	0.49131	3.917000	0.56424	1.901000	0.55032	0.533000	0.62120	CTT		0.547	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1		
ACAT2	39	broad.mit.edu	37	6	160199274	160199274	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:160199274G>T	ENST00000367048.4	+	8	2745	c.985G>T	c.(985-987)Gct>Tct	p.A329S	SNORA20_ENST00000384662.1_RNA|ACAT2_ENST00000541436.1_Missense_Mutation_p.A358S|ACAT2_ENST00000472052.1_3'UTR	NM_005891.2	NP_005882.2	Q9BWD1	THIC_HUMAN	acetyl-CoA acetyltransferase 2	329					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acetyl-CoA C-acetyltransferase activity (GO:0003985)	p.A329S(1)		breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AGCTGTCTCTGCTGCAATAGT	0.378																																					p.A329S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G985T	6						.						67.0	67.0	67.0					6																	160199274		2203	4300	6503	160119264	SO:0001583	missense	39	exon8			AF356877	CCDS5268.1	6q25.3	2014-05-19	2010-04-30		ENSG00000120437	ENSG00000120437	2.3.1.9		94	protein-coding gene	gene with protein product	"""acetoacetyl Coenzyme A thiolase"""	100678	"""acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase)"", ""acetyl-Coenzyme A acetyltransferase 2"""			2475872	Standard	NM_005891		Approved		uc010kjy.3	Q9BWD1	OTTHUMG00000015935	ENST00000367048.4:c.985G>T	6.37:g.160199274G>T	ENSP00000356015:p.Ala329Ser		160119264	NM_005891	B7Z233|E1P5B1|Q16146|Q5TCL7|Q8TDM4	Missense_Mutation	SNP	ENST00000367048.4	37	CCDS5268.1	.	.	.	.	.	.	.	.	.	.	G	8.785	0.929216	0.18131	.	.	ENSG00000120437	ENST00000367048;ENST00000541436	D;D	0.92348	-3.02;-3.02	5.38	4.52	0.55395	Thiolase-like, subgroup (1);Thiolase-like (1);Thiolase, C-terminal (1);	0.499343	0.22150	N	0.063932	D	0.87152	0.6106	L	0.49350	1.555	0.09310	N	1	B;B	0.20550	0.046;0.019	B;B	0.40702	0.338;0.156	T	0.82617	-0.0369	10	0.87932	D	0	-18.4069	8.8479	0.35181	0.1408:0.125:0.7343:0.0	.	358;329	B7Z233;Q9BWD1	.;THIC_HUMAN	S	329;358	ENSP00000356015:A329S;ENSP00000437850:A358S	ENSP00000356015:A329S	A	+	1	0	ACAT2	160119264	0.019000	0.18553	0.018000	0.16275	0.064000	0.16182	0.486000	0.22340	1.416000	0.47057	0.313000	0.20887	GCT		0.378	ACAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042912.1	NM_005891	
LPA	4018	broad.mit.edu	37	6	161007484	161007484	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:161007484C>A	ENST00000316300.5	-	25	4170	c.4126G>T	c.(4126-4128)Gaa>Taa	p.E1376*	LPA_ENST00000447678.1_Nonsense_Mutation_p.E1376*			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3884	Kringle 12. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.E1376*(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TTCTTACCTTCTTCAGAAGGA	0.478																																					p.E1376X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G4126T	6						.						104.0	99.0	101.0					6																	161007484		1923	4151	6074	160927474	SO:0001587	stop_gained	4018	exon26			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4126G>T	6.37:g.161007484C>A	ENSP00000321334:p.Glu1376*		160927474	NM_005577	Q5VTD7|Q9UD88	Nonsense_Mutation	SNP	ENST00000316300.5	37	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	c	38	6.809352	0.97853	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	.	.	.	2.39	-4.79	0.03200	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	0.7572	0.01000	0.2804:0.3374:0.2071:0.1751	.	.	.	.	X	1376	.	ENSP00000321334:E1376X	E	-	1	0	LPA	160927474	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-4.312000	0.00255	-1.298000	0.02348	-0.662000	0.03851	GAA		0.478	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577	
MYLIP	29116	broad.mit.edu	37	6	16145533	16145533	+	Silent	SNP	C	C	T	rs148878853	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:16145533C>T	ENST00000356840.3	+	6	1431	c.1233C>T	c.(1231-1233)tgC>tgT	p.C411C	U3_ENST00000515984.1_RNA|MYLIP_ENST00000349606.4_Silent_p.C230C	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	411					cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.C411C(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GTGAGAGCTGCGCCGCCCAGC	0.597																																					p.C411C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1233T	6						.	C		0,4406		0,0,2203	74.0	62.0	66.0		1233	-4.3	0.7	6	dbSNP_134	66	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	MYLIP	NM_013262.3		0,6,6497	TT,TC,CC		0.0698,0.0,0.0461		411/446	16145533	6,13000	2203	4300	6503	16253512	SO:0001819	synonymous_variant	29116	exon6			AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"""	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.1233C>T	6.37:g.16145533C>T			16253512	NM_013262	Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Silent	SNP	ENST00000356840.3	37	CCDS4536.1																																																																																				0.597	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043864.1	NM_013262	
MAP3K4	4216	broad.mit.edu	37	6	161469721	161469721	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:161469721C>A	ENST00000392142.4	+	3	565	c.417C>A	c.(415-417)agC>agA	p.S139R	MAP3K4_ENST00000366920.2_Missense_Mutation_p.S139R|MAP3K4_ENST00000446500.1_3'UTR|MAP3K4_ENST00000348824.7_Missense_Mutation_p.S139R|MAP3K4_ENST00000366919.2_Missense_Mutation_p.S139R	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	139					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.S139R(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AAGAATACAGCTATAAGCAGG	0.368																																					p.S139R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C417A	6						.						86.0	91.0	89.0					6																	161469721		2203	4300	6503	161389711	SO:0001583	missense	4216	exon3			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.417C>A	6.37:g.161469721C>A	ENSP00000375986:p.Ser139Arg		161389711	NM_006724	A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.641235	0.87859	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.73047	-0.71;-0.7;-0.7;-0.71	5.83	5.83	0.93111	.	0.106717	0.64402	D	0.000005	T	0.73999	0.3659	L	0.56769	1.78	0.58432	D	0.999999	D;D	0.56287	0.968;0.975	P;P	0.53689	0.732;0.649	T	0.74456	-0.3659	10	0.54805	T	0.06	-20.1042	20.1043	0.97884	0.0:1.0:0.0:0.0	.	139;139	Q9Y6R4-2;Q9Y6R4	.;M3K4_HUMAN	R	139	ENSP00000355886:S139R;ENSP00000375986:S139R;ENSP00000355887:S139R;ENSP00000297332:S139R	ENSP00000297332:S139R	S	+	3	2	MAP3K4	161389711	1.000000	0.71417	0.989000	0.46669	0.899000	0.52679	1.857000	0.39399	2.745000	0.94114	0.585000	0.79938	AGC		0.368	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3		
SFT2D1	113402	broad.mit.edu	37	6	166741782	166741782	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:166741782A>G	ENST00000361731.3	-	4	406	c.297T>C	c.(295-297)ctT>ctC	p.L99L	SFT2D1_ENST00000487841.1_5'UTR	NM_145169.1	NP_660152.1			SFT2 domain containing 1									p.L99L(1)		NS(1)|central_nervous_system(1)|large_intestine(3)|upper_aerodigestive_tract(1)	6		Breast(66;0.000148)|Prostate(117;0.109)|Ovarian(120;0.199)		OV - Ovarian serous cystadenocarcinoma(33;2.63e-19)|BRCA - Breast invasive adenocarcinoma(81;4.92e-06)|GBM - Glioblastoma multiforme(31;4.58e-05)		CAATTGTTGCAAGCAATCTTG	0.303																																					p.L99L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T297C	6						.						59.0	55.0	56.0					6																	166741782		2203	4293	6496	166661772	SO:0001819	synonymous_variant	113402	exon4			AF041429	CCDS5292.1	6q27	2008-02-05	2005-07-25	2005-07-25	ENSG00000198818	ENSG00000198818			21102	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 83"""	C6orf83			Standard	NM_145169		Approved	MGC19825, pRGR1	uc003qux.3	Q8WV19	OTTHUMG00000016001	ENST00000361731.3:c.297T>C	6.37:g.166741782A>G			166661772	NM_145169		Silent	SNP	ENST00000361731.3	37	CCDS5292.1																																																																																				0.303	SFT2D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043061.2	NM_145169	
DUSP22	56940	broad.mit.edu	37	6	335124	335124	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:335124A>G	ENST00000344450.5	+	4	592	c.149A>G	c.(148-150)tAc>tGc	p.Y50C	DUSP22_ENST00000419235.2_Missense_Mutation_p.Y50C|DUSP22_ENST00000603453.1_5'UTR|DUSP22_ENST00000605315.1_Intron|DUSP22_ENST00000605035.1_Intron|DUSP22_ENST00000604971.1_Intron|DUSP22_ENST00000605863.1_Intron|DUSP22_ENST00000603290.1_3'UTR	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	50					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.Y50C(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GGAGTTAAATACCTGTGCATC	0.308																																					p.Y50C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A149G	6						.						64.0	69.0	67.0					6																	335124		2203	4300	6503	280124	SO:0001583	missense	56940	exon4			AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16077	protein-coding gene	gene with protein product						9205128, 11717427	Standard	NM_001286555		Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000344450.5:c.149A>G	6.37:g.335124A>G	ENSP00000345281:p.Tyr50Cys		280124	NM_020185	B4DK56|Q59GW2|Q5VWR2|Q96AR1	Missense_Mutation	SNP	ENST00000344450.5	37	CCDS4468.1	.	.	.	.	.	.	.	.	.	.	A	18.56	3.650278	0.67472	.	.	ENSG00000112679	ENST00000344450	T	0.66280	-0.2	5.79	5.79	0.91817	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.64402	D	0.000005	T	0.80481	0.4631	M	0.92077	3.27	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.979;1.0;0.993	D	0.85547	0.1219	10	0.87932	D	0	.	13.6508	0.62310	1.0:0.0:0.0:0.0	.	50;7;50	Q9NRW4-2;B3KSA8;Q9NRW4	.;.;DUS22_HUMAN	C	50	ENSP00000345281:Y50C	ENSP00000345281:Y50C	Y	+	2	0	DUSP22	280124	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.162000	0.64942	2.219000	0.72066	0.402000	0.26972	TAC		0.308	DUSP22-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000039621.1	NM_020185	
DSP	1832	broad.mit.edu	37	6	7586019	7586019	+	Missense_Mutation	SNP	C	C	T	rs144850908		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:7586019C>T	ENST00000379802.3	+	24	8865	c.8524C>T	c.(8524-8526)Cgc>Tgc	p.R2842C	DSP_ENST00000418664.2_Missense_Mutation_p.R2243C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2842	6 X 4 AA tandem repeats of G-S-R-[SR].|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.R2842C(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ctccgggtcccgcAGTGGGTC	0.582																																					p.R2243C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6727T	6						.	C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	57.0	70.0	66.0		6727,8524	5.1	1.0	6	dbSNP_134	66	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	DSP	NM_001008844.1,NM_004415.2	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	2243/2273,2842/2872	7586019	1,13005	2203	4300	6503	7531018	SO:0001583	missense	1832	exon24			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.8524C>T	6.37:g.7586019C>T	ENSP00000369129:p.Arg2842Cys		7531018	NM_001008844	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.785113	0.90282	0.0	1.16E-4	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.76968	-0.8;-1.06	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000010	T	0.80788	0.4690	L	0.38175	1.15	0.42975	D	0.994449	D;D	0.89917	1.0;1.0	D;D	0.73708	0.981;0.981	T	0.83136	-0.0111	10	0.72032	D	0.01	.	18.7623	0.91856	0.0:1.0:0.0:0.0	.	2290;2842	Q4LE79;P15924	.;DESP_HUMAN	C	2842;2243	ENSP00000369129:R2842C;ENSP00000396591:R2243C	ENSP00000369129:R2842C	R	+	1	0	DSP	7531018	1.000000	0.71417	0.956000	0.39512	0.989000	0.77384	5.718000	0.68455	2.514000	0.84764	0.655000	0.94253	CGC		0.582	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415	
NOL7	51406	broad.mit.edu	37	6	13620992	13620992	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:13620992delA	ENST00000451315.2	+	8	739	c.707delA	c.(706-708)caafs	p.Q236fs	AL441883.1_ENST00000600057.1_Frame_Shift_Del_p.W44fs|RANBP9_ENST00000469916.1_5'Flank|NOL7_ENST00000474485.1_3'UTR	NM_016167.3	NP_057251.2	Q9UMY1	NOL7_HUMAN	nucleolar protein 7, 27kDa	236						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.Q239fs*7(1)|p.K238fs*16(1)		breast(1)|large_intestine(3)|lung(1)	5	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.135)	Epithelial(50;0.176)			CTAGGAATCCAAAAAAAACAA	0.269																																					p.Q236fs												.	.	2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	large_intestine(2)	c.707delA	6						.						30.0	32.0	31.0					6																	13620992		2203	4289	6492	13728971	SO:0001589	frameshift_variant	51406	exon8			AF172066	CCDS4528.1	6p23	2008-05-23	2004-02-10		ENSG00000225921	ENSG00000225921			21040	protein-coding gene	gene with protein product		611533	"""chromosome 6 open reading frame 90"", ""polyglutamine binding protein 3"""	C6orf90, PQBP3		16205646	Standard	NM_016167		Approved	NOP27, RARG-1, dJ223E5.2	uc003naz.3	Q9UMY1	OTTHUMG00000014277	ENST00000451315.2:c.707delA	6.37:g.13620992delA	ENSP00000405674:p.Gln236fs		13728971	NM_016167	Q5T297|Q9Y3U7	Frame_Shift_Del	DEL	ENST00000451315.2	37	CCDS4528.1																																																																																				0.269	NOL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039904.1	NM_016167	
KIAA0319	9856	broad.mit.edu	37	6	24564463	24564463	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:24564463C>T	ENST00000378214.3	-	15	2922	c.2398G>A	c.(2398-2400)Gac>Aac	p.D800N	KIAA0319_ENST00000430948.2_Missense_Mutation_p.D755N|KIAA0319_ENST00000535378.1_Missense_Mutation_p.D791N|KIAA0319_ENST00000537886.1_Missense_Mutation_p.D800N|KIAA0319_ENST00000543707.1_Missense_Mutation_p.D800N	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	800	PKD 5. {ECO:0000255|PROSITE- ProRule:PRU00151}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D800N(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GTGTCTGTGTCCGAGGCCCCC	0.597																																					p.D800N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2398A	6						.						87.0	71.0	76.0					6																	24564463		2203	4300	6503	24672442	SO:0001583	missense	9856	exon15			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.2398G>A	6.37:g.24564463C>T	ENSP00000367459:p.Asp800Asn		24672442	NM_001168377	A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.792869	0.70452	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51	4.32	4.32	0.51571	PKD/Chitinase domain (1);PKD domain (2);	0.128408	0.51477	D	0.000099	T	0.24774	0.0601	L	0.58925	1.835	0.42098	D	0.991321	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.959;0.998;0.999	T	0.01440	-1.1354	10	0.41790	T	0.15	-20.5523	16.9965	0.86369	0.0:1.0:0.0:0.0	.	800;791;800	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	N	800;791;755;800;800	ENSP00000439700:D800N;ENSP00000442403:D791N;ENSP00000401086:D755N;ENSP00000367459:D800N;ENSP00000437656:D800N	ENSP00000367459:D800N	D	-	1	0	KIAA0319	24672442	0.995000	0.38212	0.090000	0.20809	0.726000	0.41606	3.065000	0.49994	2.212000	0.71576	0.655000	0.94253	GAC		0.597	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809	
SCGN	10590	broad.mit.edu	37	6	25665219	25665219	+	Missense_Mutation	SNP	C	C	T	rs200726171		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:25665219C>T	ENST00000377961.2	+	4	463	c.295C>T	c.(295-297)Cgc>Tgc	p.R99C	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	99						cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.R99C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TCTGCTCTTTCGCCGGGAAAA	0.473																																					p.R99C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C295T	6						.	C	CYS/ARG	0,4406		0,0,2203	148.0	131.0	137.0		295	5.1	1.0	6		137	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SCGN	NM_006998.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	99/277	25665219	1,13005	2203	4300	6503	25773198	SO:0001583	missense	10590	exon4			BC000336	CCDS4561.1	6p22.3-p22.1	2013-01-10			ENSG00000079689	ENSG00000079689		"""EF-hand domain containing"""	16941	protein-coding gene	gene with protein product	"""calbindin-like"""	609202				10811645	Standard	NM_006998		Approved	SECRET, DJ501N12.8, SEGN, CALBL	uc003nfb.3	O76038	OTTHUMG00000014409	ENST00000377961.2:c.295C>T	6.37:g.25665219C>T	ENSP00000367197:p.Arg99Cys		25773198	NM_006998	A8K0B2|Q5VV44|Q96QV7|Q9UJF6	Missense_Mutation	SNP	ENST00000377961.2	37	CCDS4561.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730129	0.48939	0.0	1.16E-4	ENSG00000079689	ENST00000377961	T	0.10099	2.91	5.09	5.09	0.68999	EF-hand-like domain (1);	0.098647	0.64402	D	0.000001	T	0.31765	0.0807	M	0.86805	2.84	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.29971	-0.9994	10	0.87932	D	0	.	17.2839	0.87136	0.0:1.0:0.0:0.0	.	99	O76038	SEGN_HUMAN	C	99	ENSP00000367197:R99C	ENSP00000367197:R99C	R	+	1	0	SCGN	25773198	1.000000	0.71417	0.968000	0.41197	0.052000	0.14988	5.729000	0.68538	2.343000	0.79666	0.585000	0.79938	CGC		0.473	SCGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040067.1		
HIST1H4B	8366	broad.mit.edu	37	6	26027196	26027196	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:26027196T>C	ENST00000377364.3	-	1	284	c.285A>G	c.(283-285)ggA>ggG	p.G95G		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	95					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.G95G(1)		large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						ACAGAGTGCGTCCTTGACGCT	0.552											OREG0017238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G95G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A285G	6						.						95.0	83.0	87.0					6																	26027196		2203	4300	6503	26135175	SO:0001819	synonymous_variant	8366	exon1			X67081	CCDS4572.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124529	ENSG00000278705		"""Histones / Replication-dependent"""	4789	protein-coding gene	gene with protein product		602829	"""H4 histone family, member I"", ""histone 1, H4b"""	H4FI		9119399, 12408966	Standard	NM_003544		Approved	H4/I	uc003nfr.3	P62805	OTTHUMG00000014417	ENST00000377364.3:c.285A>G	6.37:g.26027196T>C		783	26135175	NM_003544	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000377364.3	37	CCDS4572.1																																																																																				0.552	HIST1H4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040079.2	NM_003544	
HIST1H4B	8366	broad.mit.edu	37	6	26027289	26027289	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:26027289C>T	ENST00000377364.3	-	1	191	c.192G>A	c.(190-192)gaG>gaA	p.E64E		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	64			E -> Q (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.E64E(1)		large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						GGATCACGTTCTCCAGAAACA	0.572											OREG0017238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E64E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G192A	6						.						102.0	86.0	91.0					6																	26027289		2203	4300	6503	26135268	SO:0001819	synonymous_variant	8366	exon1			X67081	CCDS4572.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124529	ENSG00000278705		"""Histones / Replication-dependent"""	4789	protein-coding gene	gene with protein product		602829	"""H4 histone family, member I"", ""histone 1, H4b"""	H4FI		9119399, 12408966	Standard	NM_003544		Approved	H4/I	uc003nfr.3	P62805	OTTHUMG00000014417	ENST00000377364.3:c.192G>A	6.37:g.26027289C>T		783	26135268	NM_003544	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000377364.3	37	CCDS4572.1																																																																																				0.572	HIST1H4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040079.2	NM_003544	
HIST1H2BF	8343	broad.mit.edu	37	6	26199890	26199890	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:26199890A>G	ENST00000359985.1	+	1	143	c.104A>G	c.(103-105)aAg>aGg	p.K35R	HIST1H3D_ENST00000356476.2_5'Flank|HIST1H3D_ENST00000377831.5_5'Flank|HIST1H2AD_ENST00000341023.1_5'Flank	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	35					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K35R(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				CGTAGCCGCAAGGAGAGCTAT	0.552																																					p.K35R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A104G	6						.						204.0	187.0	192.0					6																	26199890		2203	4300	6503	26307869	SO:0001583	missense	8343	exon1			Z80779	CCDS4592.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197846	ENSG00000277224		"""Histones / Replication-dependent"""	4752	protein-coding gene	gene with protein product		602804	"""H2B histone family, member G"", ""histone 1, H2bf"""	H2BFG		9119399, 12408966	Standard	NM_003522		Approved	H2B/g	uc003ngx.3	P62807	OTTHUMG00000014445	ENST00000359985.1:c.104A>G	6.37:g.26199890A>G	ENSP00000353074:p.Lys35Arg		26307869	NM_003522	P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000359985.1	37	CCDS4592.1	.	.	.	.	.	.	.	.	.	.	.	14.50	2.554293	0.45487	.	.	ENSG00000197846	ENST00000359985	T	0.67345	-0.26	3.89	3.89	0.44902	.	0.000000	0.43416	D	0.000576	T	0.57666	0.2069	.	.	.	0.29649	N	0.84413	.	.	.	.	.	.	T	0.56655	-0.7943	7	0.51188	T	0.08	.	12.5787	0.56378	1.0:0.0:0.0:0.0	.	.	.	.	R	35	ENSP00000353074:K35R	ENSP00000353074:K35R	K	+	2	0	HIST1H2BF	26307869	1.000000	0.71417	1.000000	0.80357	0.063000	0.16089	9.062000	0.93920	1.707000	0.51288	0.528000	0.53228	AAG		0.552	HIST1H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040108.1	NM_003522	
HIST1H4E	8367	broad.mit.edu	37	6	26205020	26205020	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:26205020C>T	ENST00000360441.4	+	1	163	c.148C>T	c.(148-150)Ctc>Ttc	p.L50F		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	50					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.L50F(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				CATTTCTGGTCTCATCTACGA	0.557																																					p.L50F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C148T	6						.						100.0	97.0	98.0					6																	26205020		2203	4300	6503	26312999	SO:0001583	missense	8367	exon1			Z80787	CCDS4593.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198518	ENSG00000276966		"""Histones / Replication-dependent"""	4790	protein-coding gene	gene with protein product		602830	"""H4 histone family, member J"", ""histone 1, H4e"""	H4FJ		9119399, 12408966	Standard	NM_003545		Approved	H4/j	uc003ngy.3	P62805	OTTHUMG00000014441	ENST00000360441.4:c.148C>T	6.37:g.26205020C>T	ENSP00000353624:p.Leu50Phe		26312999	NM_003545	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000360441.4	37	CCDS4593.1	.	.	.	.	.	.	.	.	.	.	.	9.875	1.200084	0.22121	.	.	ENSG00000198518	ENST00000360441	T	0.67865	-0.29	2.2	2.2	0.27929	.	0.000000	0.64402	U	0.000005	T	0.66416	0.2787	.	.	.	0.48087	D	0.999586	.	.	.	.	.	.	T	0.71344	-0.4621	7	0.59425	D	0.04	.	12.403	0.55424	0.0:1.0:0.0:0.0	.	.	.	.	F	50	ENSP00000353624:L50F	ENSP00000353624:L50F	L	+	1	0	HIST1H4E	26312999	0.968000	0.33430	0.014000	0.15608	0.002000	0.02628	2.360000	0.44151	1.521000	0.48983	0.655000	0.94253	CTC		0.557	HIST1H4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040104.1	NM_003545	
HIST1H1D	3007	broad.mit.edu	37	6	26234958	26234958	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:26234958C>T	ENST00000244534.5	-	1	258	c.204G>A	c.(202-204)gcG>gcA	p.A68A		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	68	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.A68A(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				AGCCAGCAGCCGCAAGCGCTT	0.547																																					p.A68A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G204A	6						.						71.0	81.0	78.0					6																	26234958		2203	4300	6503	26342937	SO:0001819	synonymous_variant	3007	exon1			M60747	CCDS4597.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000124575	ENSG00000124575		"""Histones / Replication-dependent"""	4717	protein-coding gene	gene with protein product		142210	"""H1 histone family, member 3"", ""histone 1, H1d"""	H1F3		1916825, 12408966	Standard	NM_005320		Approved	H1.3, H1d, H1s-2	uc003nhd.3	P16402	OTTHUMG00000014432	ENST00000244534.5:c.204G>A	6.37:g.26234958C>T			26342937	NM_005320	B2R751|Q2M2I2	Silent	SNP	ENST00000244534.5	37	CCDS4597.1																																																																																				0.547	HIST1H1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040095.1	NM_005320	
HIST1H1D	3007	broad.mit.edu	37	6	26235040	26235040	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:26235040A>G	ENST00000244534.5	-	1	176	c.122T>C	c.(121-123)gTa>gCa	p.V41A		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	41	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.V41A(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				AAGCTCAGATACTGGGGGTCC	0.562																																					p.V41A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T122C	6						.						91.0	89.0	89.0					6																	26235040		2203	4300	6503	26343019	SO:0001583	missense	3007	exon1			M60747	CCDS4597.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000124575	ENSG00000124575		"""Histones / Replication-dependent"""	4717	protein-coding gene	gene with protein product		142210	"""H1 histone family, member 3"", ""histone 1, H1d"""	H1F3		1916825, 12408966	Standard	NM_005320		Approved	H1.3, H1d, H1s-2	uc003nhd.3	P16402	OTTHUMG00000014432	ENST00000244534.5:c.122T>C	6.37:g.26235040A>G	ENSP00000244534:p.Val41Ala		26343019	NM_005320	B2R751|Q2M2I2	Missense_Mutation	SNP	ENST00000244534.5	37	CCDS4597.1	.	.	.	.	.	.	.	.	.	.	.	13.83	2.354857	0.41700	.	.	ENSG00000124575	ENST00000244534	T	0.24350	1.86	5.12	5.12	0.69794	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.128541	0.51477	D	0.000087	T	0.29850	0.0746	M	0.75150	2.29	0.47009	D	0.999285	P	0.37500	0.597	P	0.49953	0.627	T	0.17289	-1.0374	10	0.72032	D	0.01	-33.8449	9.0054	0.36109	0.9168:0.0:0.0832:0.0	.	41	P16402	H13_HUMAN	A	41	ENSP00000244534:V41A	ENSP00000244534:V41A	V	-	2	0	HIST1H1D	26343019	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	3.988000	0.56951	2.072000	0.62099	0.533000	0.62120	GTA		0.562	HIST1H1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040095.1	NM_005320	
HIST1H4F	8361	broad.mit.edu	37	6	26240823	26240823	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:26240823G>A	ENST00000377745.2	+	1	263	c.170G>A	c.(169-171)gGt>gAt	p.G57D		NM_003540.3	NP_003531.1	P62805	H4_HUMAN	histone cluster 1, H4f	57					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.G57D(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				GAGACCCGCGGTGTTCTTAAG	0.577																																					p.G57D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G170A	6						.						76.0	67.0	70.0					6																	26240823		2203	4300	6503	26348802	SO:0001583	missense	8361	exon1			M60749	CCDS4598.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198327			"""Histones / Replication-dependent"""	4783	protein-coding gene	gene with protein product		602824	"""H4 histone family, member C"", ""histone 1, H4f"""	H4FC		1916825, 9119399, 12408966	Standard	NM_003540		Approved	H4/c, H4	uc003nhe.1	P62805	OTTHUMG00000014443	ENST00000377745.2:c.170G>A	6.37:g.26240823G>A	ENSP00000366974:p.Gly57Asp		26348802	NM_003540	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000377745.2	37	CCDS4598.1	.	.	.	.	.	.	.	.	.	.	.	14.99	2.700370	0.48307	.	.	ENSG00000198327	ENST00000377745	T	0.67523	-0.27	4.36	4.36	0.52297	.	0.000000	0.85682	D	0.000000	T	0.74374	0.3708	.	.	.	0.51233	D	0.999914	.	.	.	.	.	.	T	0.78013	-0.2370	7	0.66056	D	0.02	.	16.4132	0.83726	0.0:0.0:1.0:0.0	.	.	.	.	D	57	ENSP00000366974:G57D	ENSP00000366974:G57D	G	+	2	0	HIST1H4F	26348802	1.000000	0.71417	0.993000	0.49108	0.003000	0.03518	9.222000	0.95196	2.430000	0.82344	0.563000	0.77884	GGT		0.577	HIST1H4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040106.1	NM_003540	
HIST1H2AJ	8331	broad.mit.edu	37	6	27782187	27782187	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:27782187T>C	ENST00000333151.3	-	1	420	c.332A>G	c.(331-333)aAc>aGc	p.N111S	HIST1H2BM_ENST00000359465.4_5'Flank	NM_021066.2	NP_066544.1	Q99878	H2A1J_HUMAN	histone cluster 1, H2aj	111						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.N111S(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	11						GGCCTGGATGTTGGGCAGGAC	0.542																																					p.N111S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A332G	6						.						116.0	122.0	120.0					6																	27782187		2203	4300	6503	27890166	SO:0001583	missense	8331	exon1			Z83736	CCDS4628.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000182611	ENSG00000276368		"""Histones / Replication-dependent"""	4727	protein-coding gene	gene with protein product		602791	"""H2A histone family, member E"", ""histone 1, H2aj"""	H2AFE		9439656, 12408966	Standard	NM_021066		Approved	H2A/E	uc003njn.1	Q99878	OTTHUMG00000014486	ENST00000333151.3:c.332A>G	6.37:g.27782187T>C	ENSP00000328484:p.Asn111Ser		27890166	NM_021066	A2RUU6|Q5JXQ5	Missense_Mutation	SNP	ENST00000333151.3	37	CCDS4628.1	.	.	.	.	.	.	.	.	.	.	.	12.22	1.872934	0.33069	.	.	ENSG00000182611	ENST00000333151	D	0.90732	-2.72	4.15	4.15	0.48705	Histone-fold (2);Histone H2A (2);	0.000000	0.35013	U	0.003510	D	0.84844	0.5562	M	0.65498	2.005	0.28360	N	0.920484	P	0.39576	0.679	B	0.38712	0.28	T	0.82500	-0.0426	10	0.87932	D	0	.	13.3658	0.60682	0.0:0.0:0.0:1.0	.	111	Q99878	H2A1J_HUMAN	S	111	ENSP00000328484:N111S	ENSP00000328484:N111S	N	-	2	0	HIST1H2AJ	27890166	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	5.838000	0.69388	2.087000	0.62958	0.533000	0.62120	AAC		0.542	HIST1H2AJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040154.1	NM_021066	
HIST1H4L	8368	broad.mit.edu	37	6	27841039	27841039	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:27841039C>T	ENST00000355981.2	-	1	250	c.250G>A	c.(250-252)Gcc>Acc	p.A84T	HIST1H3I_ENST00000328488.2_5'Flank	NM_003546.2	NP_003537.1	P62805	H4_HUMAN	histone cluster 1, H4l	84					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.A84T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	13						ACGTCCATGGCTGTGACTGTC	0.522																																					p.A84T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G250A	6						.						102.0	91.0	95.0					6																	27841039		2203	4300	6503	27949018	SO:0001583	missense	8368	exon1			X83548	CCDS4637.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198558	ENSG00000275126		"""Histones / Replication-dependent"""	4791	protein-coding gene	gene with protein product		602831	"""H4 histone family, member K"", ""histone 1, H4l"""	H4FK		9031620, 9439656, 12408966	Standard	NM_003546		Approved	H4.k, H4/k	uc003njz.3	P62805	OTTHUMG00000016211	ENST00000355981.2:c.250G>A	6.37:g.27841039C>T	ENSP00000348258:p.Ala84Thr		27949018	NM_003546	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000355981.2	37	CCDS4637.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183956	0.78677	.	.	ENSG00000198558	ENST00000355981	T	0.69175	-0.38	4.52	4.52	0.55395	.	0.000000	0.64402	D	0.000003	T	0.74876	0.3774	.	.	.	0.53688	D	0.999979	.	.	.	.	.	.	T	0.78620	-0.2133	7	0.72032	D	0.01	.	16.7018	0.85351	0.0:1.0:0.0:0.0	.	.	.	.	T	84	ENSP00000348258:A84T	ENSP00000348258:A84T	A	-	1	0	HIST1H4L	27949018	1.000000	0.71417	0.926000	0.36857	0.658000	0.38924	7.194000	0.77789	2.439000	0.82584	0.655000	0.94253	GCC		0.522	HIST1H4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043513.1	NM_003546	
PGBD1	84547	broad.mit.edu	37	6	28269486	28269486	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:28269486C>T	ENST00000405948.2	+	7	2275	c.1855C>T	c.(1855-1857)Cag>Tag	p.Q619*	PGBD1_ENST00000259883.3_Nonsense_Mutation_p.Q619*	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	619						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q619*(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AGAGAGAGGTCAGTATCCCTA	0.413																																					p.Q619X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1855T	6						.						166.0	162.0	164.0					6																	28269486		2203	4300	6503	28377465	SO:0001587	stop_gained	84547	exon7			D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.1855C>T	6.37:g.28269486C>T	ENSP00000385213:p.Gln619*		28377465	NM_001184743	Q53F43|Q6NTF5|Q8WWS4	Nonsense_Mutation	SNP	ENST00000405948.2	37	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	C	38	7.120334	0.98077	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	.	.	.	4.66	2.87	0.33458	.	0.752220	0.11231	N	0.585669	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-20.4613	7.1509	0.25610	0.0:0.7969:0.0:0.2031	.	.	.	.	X	619	.	ENSP00000259883:Q619X	Q	+	1	0	PGBD1	28377465	0.026000	0.19158	0.220000	0.23810	0.996000	0.88848	0.979000	0.29500	0.689000	0.31550	0.655000	0.94253	CAG		0.413	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2		
OR10C1	442194	broad.mit.edu	37	6	29408058	29408058	+	Missense_Mutation	SNP	G	G	A	rs533065635		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:29408058G>A	ENST00000444197.2	+	1	976	c.266G>A	c.(265-267)cGc>cAc	p.R89H	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	89			R -> S (in dbSNP:rs11755182).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R89H(1)		NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ACTGGCCGGCGCCACATCTCT	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		19901	0.0		0.0	False		,,,				2504	0.001				p.R89H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G266A	6						.						119.0	113.0	115.0					6																	29408058		1508	2708	4216	29516037	SO:0001583	missense	442194	exon1				CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"""GPCR / Class A : Olfactory receptors"""	8165	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily C, member 2"", ""olfactory receptor, family 10, subfamily C, member 1"""	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.266G>A	6.37:g.29408058G>A	ENSP00000419119:p.Arg89His		29516037	NM_013941	Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	37	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.586153	0.46110	.	.	ENSG00000206474	ENST00000444197	T	0.38077	1.16	3.32	3.32	0.38043	GPCR, rhodopsin-like superfamily (1);	0.222920	0.23526	N	0.047240	T	0.26882	0.0658	L	0.33189	0.99	0.33003	D	0.526539	D	0.55605	0.972	P	0.53450	0.726	T	0.09465	-1.0673	10	0.72032	D	0.01	.	12.5386	0.56156	0.0:0.0:1.0:0.0	.	89	Q96KK4	O10C1_HUMAN	H	89	ENSP00000419119:R89H	ENSP00000419119:R89H	R	+	2	0	OR10C1	29516037	0.000000	0.05858	0.637000	0.29366	0.098000	0.18820	-1.249000	0.02888	1.858000	0.53909	0.196000	0.17591	CGC		0.582	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2		
GABBR1	2550	broad.mit.edu	37	6	29581122	29581122	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:29581122G>A	ENST00000377034.4	-	12	1799	c.1464C>T	c.(1462-1464)ggC>ggT	p.G488G	GABBR1_ENST00000377016.4_Silent_p.G426G|GABBR1_ENST00000377012.4_Silent_p.G371G|GABBR1_ENST00000376977.3_Silent_p.G488G|GABBR1_ENST00000355973.3_Silent_p.G371G	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	488					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	CAGAACGGCCGCCTCCTCCAG	0.567																																					p.G426G												.	.	0			c.C1278T	6						.						101.0	110.0	107.0					6																	29581122		1511	2709	4220	29689101	SO:0001819	synonymous_variant	2550	exon11			Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.1464C>T	6.37:g.29581122G>A			29689101	NM_021904	B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Silent	SNP	ENST00000377034.4	37	CCDS4663.1																																																																																				0.567	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3		
DHX16	8449	broad.mit.edu	37	6	30624203	30624203	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:30624203G>T	ENST00000376442.3	-	15	2590	c.2395C>A	c.(2395-2397)Ctg>Atg	p.L799M	DHX16_ENST00000376437.5_Missense_Mutation_p.L318M	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	799					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.L799M(1)		kidney(2)|ovary(2)	4						AGGGCTCCCAGAGCATACAGC	0.572																																					p.L799M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2395A	6						.						78.0	77.0	77.0					6																	30624203		2203	4300	6503	30732182	SO:0001583	missense	8449	exon15			AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.2395C>A	6.37:g.30624203G>T	ENSP00000365625:p.Leu799Met		30732182	NM_003587	O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	ENST00000376442.3	37	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.205014	0.58234	.	.	ENSG00000204560	ENST00000376442;ENST00000376437	T;T	0.51574	0.7;0.7	4.84	3.92	0.45320	Helicase-associated domain (2);	0.000000	0.64402	D	0.000002	T	0.67998	0.2953	M	0.93808	3.46	0.54753	D	0.999983	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.76610	-0.2896	10	0.87932	D	0	.	11.2612	0.49085	0.0967:0.0:0.9033:0.0	.	739;799;318	B4DZ28;O60231;Q5SQH5	.;DHX16_HUMAN;.	M	799;318	ENSP00000365625:L799M;ENSP00000365620:L318M	ENSP00000365620:L318M	L	-	1	2	DHX16	30732182	1.000000	0.71417	0.802000	0.32245	0.983000	0.72400	3.678000	0.54627	1.170000	0.42753	-0.367000	0.07326	CTG		0.572	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587	
PPP1R18	170954	broad.mit.edu	37	6	30653496	30653496	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:30653496C>T	ENST00000274853.3	-	1	2176	c.300G>A	c.(298-300)caG>caA	p.Q100Q	PPP1R18_ENST00000488324.1_Intron|NRM_ENST00000470733.1_5'Flank|PPP1R18_ENST00000399199.3_Silent_p.Q100Q	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	100	Poly-Gln.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.Q100Q(1)									GTtgttgttgctgctgctgct	0.647																																					p.Q100Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G300A	6						.						32.0	42.0	39.0					6																	30653496		1310	2609	3919	30761475	SO:0001819	synonymous_variant	170954	exon2			AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29413	protein-coding gene	gene with protein product	"""protein phosphatase 1 F-actin cytoskeleton targeting subunit"""	610990	"""KIAA1949"""	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.300G>A	6.37:g.30653496C>T			30761475	NM_001134870	A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	Silent	SNP	ENST00000274853.3	37	CCDS43444.1																																																																																				0.647	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076498.2	NM_133471	
TUBB	203068	broad.mit.edu	37	6	30691355	30691355	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:30691355A>G	ENST00000327892.8	+	4	822	c.516A>G	c.(514-516)tcA>tcG	p.S172S	XXbac-BPG252P9.9_ENST00000607476.1_RNA|TUBB_ENST00000396389.1_Silent_p.S154S|TUBB_ENST00000396384.1_Silent_p.S100S|TUBB_ENST00000435534.1_Intron|TUBB_ENST00000330914.3_Silent_p.S100S	NM_178014.2	NP_821133.1	P07437	TBB5_HUMAN	tubulin, beta class I	172					cell division (GO:0051301)|cellular component movement (GO:0006928)|cellular process (GO:0009987)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cell body (GO:0044297)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.S172S(1)		breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Podofilox(DB01179)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	TGGTGCCTTCACCCAAAGTGT	0.527																																					p.S172S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A516G	6						.						87.0	79.0	82.0					6																	30691355		2203	4300	6503	30799334	SO:0001819	synonymous_variant	203068	exon4			AB062393	CCDS4687.1	6p21.33	2011-10-10	2011-10-10		ENSG00000196230	ENSG00000196230		"""Tubulins"""	20778	protein-coding gene	gene with protein product	"""class I beta-tubulin"", ""beta1-tubulin"""	191130	"""tubulin, beta polypeptide"", ""tubulin, beta"""			11504633, 8270253	Standard	NM_001293212		Approved	OK/SW-cl.56, MGC16435, M40, Tubb5	uc003nrl.3	P07437	OTTHUMG00000031059	ENST00000327892.8:c.516A>G	6.37:g.30691355A>G			30799334	NM_178014	P05218|Q8WUC1|Q9CY33	Silent	SNP	ENST00000327892.8	37	CCDS4687.1																																																																																				0.527	TUBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076074.2	NM_178014	
PRRC2A	7916	broad.mit.edu	37	6	31597034	31597034	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:31597034C>T	ENST00000376033.2	+	13	2113	c.1879C>T	c.(1879-1881)Cgc>Tgc	p.R627C	PRRC2A_ENST00000376007.4_Missense_Mutation_p.R627C	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	627	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R627C(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TGGTCCCACCCGCCAGCCCCC	0.572																																					p.R627C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1879T	6						.						98.0	103.0	101.0					6																	31597034		2203	4300	6503	31705013	SO:0001583	missense	7916	exon13			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.1879C>T	6.37:g.31597034C>T	ENSP00000365201:p.Arg627Cys		31705013	NM_004638	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.851792	0.51270	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033	T;T	0.13307	2.6;2.6	5.55	5.55	0.83447	.	0.000000	0.50627	D	0.000105	T	0.06096	0.0158	L	0.48642	1.525	0.45194	D	0.998202	P	0.34546	0.456	B	0.22386	0.039	T	0.05550	-1.0878	10	0.87932	D	0	-15.6568	11.789	0.52059	0.0:0.9196:0.0:0.0804	.	627	P48634	PRC2A_HUMAN	C	627;616;627;627	ENSP00000365175:R627C;ENSP00000365201:R627C	ENSP00000365175:R627C	R	+	1	0	PRRC2A	31705013	0.143000	0.22626	0.964000	0.40570	0.938000	0.57974	1.758000	0.38410	2.894000	0.99253	0.655000	0.94253	CGC		0.572	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686	
VWA7	80737	broad.mit.edu	37	6	31740846	31740846	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:31740846G>A	ENST00000375688.4	-	7	1172	c.972C>T	c.(970-972)ggC>ggT	p.G324G	VWA7_ENST00000447450.1_Silent_p.G324G|VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375686.3_Silent_p.G324G			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	324	VWFA.					extracellular region (GO:0005576)		p.G324G(1)									CACCCATGCTGCCCGTGGTGT	0.622																																					p.G324G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C972T	6						.						44.0	32.0	37.0					6																	31740846		1511	2709	4220	31848825	SO:0001819	synonymous_variant	80737	exon7				CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.972C>T	6.37:g.31740846G>A			31848825	NM_025258	A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Silent	SNP	ENST00000375688.4	37	CCDS4721.2																																																																																				0.622	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258	
HSPA1L	3305	broad.mit.edu	37	6	31777888	31777888	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:31777888G>A	ENST00000375654.4	-	2	2051	c.1862C>T	c.(1861-1863)gCc>gTc	p.A621V	HSPA1L_ENST00000417199.3_Missense_Mutation_p.A621V	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	621					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)	p.A621V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TGTTCCGCAGGCAGGCCCAGT	0.468																																					p.A621V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1862T	6						.						93.0	89.0	90.0					6																	31777888		2203	4300	6503	31885867	SO:0001583	missense	3305	exon2			D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.1862C>T	6.37:g.31777888G>A	ENSP00000364805:p.Ala621Val		31885867	NM_005527	A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	G	5.294	0.239594	0.10023	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653	T;T	0.01051	5.4;5.4	5.94	5.07	0.68467	.	1.114660	0.07150	N	0.848851	T	0.00998	0.0033	M	0.65677	2.01	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.49844	-0.8896	10	0.51188	T	0.08	-0.9609	15.1506	0.72696	0.0:0.1415:0.8585:0.0	.	621	P34931	HS71L_HUMAN	V	621;621;566	ENSP00000364805:A621V;ENSP00000387691:A621V	ENSP00000364804:A566V	A	-	2	0	HSPA1L	31885867	0.126000	0.22350	0.009000	0.14445	0.545000	0.35147	1.864000	0.39469	1.486000	0.48398	0.591000	0.81541	GCC		0.468	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2		
PRRT1	80863	broad.mit.edu	37	6	32116996	32116996	+	3'UTR	DEL	T	T	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:32116996delT	ENST00000211413.5	-	0	1048				PRRT1_ENST00000375152.2_3'UTR|PRRT1_ENST00000467780.1_5'UTR|PRRT1_ENST00000375150.2_3'UTR	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1						response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						ACCAGGGGCGTTTTTAGGGAT	0.642																																					.												.	.	0			.	6						.						28.0	38.0	34.0					6																	32116996		1504	2706	4210	32224974	SO:0001624	3_prime_UTR_variant	80863	.			AK054885	CCDS4739.1	6p21.32	2011-10-10	2005-07-24	2005-07-24		ENSG00000204314		"""Proline-rich transmembrane proteins"""	13943	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 7"""		"""chromosome 6 open reading frame 31"""	C6orf31			Standard	XM_006715221		Approved	NG5, IFITMD7	uc003nzt.3	Q99946		ENST00000211413.5:c.*3A>-	6.37:g.32116996delT			32224974	.	A6ND08|A6ND40|B0S869|Q5SSW4|Q5SSX7|Q5STI1|Q96DW3|Q96NQ8	Frame_Shift_Del	DEL	ENST00000211413.5	37	CCDS4739.1																																																																																				0.642	PRRT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076255.2	NM_030651	
RXRB	6257	broad.mit.edu	37	6	33162825	33162825	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:33162825C>T	ENST00000374680.3	-	9	1562	c.1351G>A	c.(1351-1353)Gcc>Acc	p.A451T	COL11A2_ENST00000357486.1_5'Flank|RXRB_ENST00000374685.4_Missense_Mutation_p.A455T|RXRB_ENST00000544186.1_Missense_Mutation_p.A265T|COL11A2_ENST00000395194.1_5'Flank|COL11A2_ENST00000395197.1_5'Flank|COL11A2_ENST00000374712.1_5'Flank|COL11A2_ENST00000374713.1_5'Flank|COL11A2_ENST00000361917.1_5'Flank|COL11A2_ENST00000374708.4_5'Flank|COL11A2_ENST00000341947.2_5'Flank|COL11A2_ENST00000374714.1_5'Flank	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	451	Ligand-binding. {ECO:0000250}.				cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.A451T(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	AGGCCCTTGGCATCTGGGATG	0.547																																					p.A451T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1351A	6						.						49.0	51.0	50.0					6																	33162825		1510	2708	4218	33270803	SO:0001583	missense	6257	exon9			M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"""Nuclear hormone receptors"""	10478	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 2"""	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.1351G>A	6.37:g.33162825C>T	ENSP00000363812:p.Ala451Thr		33270803	NM_021976	P28703|Q59G65|Q5JP92|Q5STQ1	Missense_Mutation	SNP	ENST00000374680.3	37	CCDS4768.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.099004	0.76870	.	.	ENSG00000204231	ENST00000374685;ENST00000374680;ENST00000544186	T;T;T	0.70631	-0.5;-0.5;-0.5	5.48	5.48	0.80851	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.052949	0.85682	D	0.000000	T	0.78451	0.4285	L	0.54323	1.7	0.80722	D	1	P;D;D;D	0.89917	0.661;1.0;0.999;1.0	P;D;D;D	0.91635	0.581;0.999;0.942;0.999	T	0.79203	-0.1900	10	0.72032	D	0.01	.	16.8993	0.86109	0.0:1.0:0.0:0.0	.	265;451;495;451	E9PK95;Q5STP9;Q59G65;P28702	.;.;.;RXRB_HUMAN	T	455;451;265	ENSP00000363817:A455T;ENSP00000363812:A451T;ENSP00000439222:A265T	ENSP00000363812:A451T	A	-	1	0	RXRB	33270803	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	2.003000	0.40844	2.852000	0.98041	0.643000	0.83706	GCC		0.547	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076642.2	NM_021976	
SLC39A7	7922	broad.mit.edu	37	6	33169037	33169037	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:33169037delG	ENST00000374677.3	+	1	388	c.15delG	c.(13-15)ctgfs	p.L5fs	RNY4P10_ENST00000365571.1_RNA|SLC39A7_ENST00000374675.3_Frame_Shift_Del_p.L5fs|RXRB_ENST00000544186.1_5'Flank|RXRB_ENST00000413614.2_5'Flank|RXRB_ENST00000374680.3_5'Flank|RXRB_ENST00000374685.4_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	5					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)	p.A7fs*10(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CCAGAGGCCTGGGGGCCCCCC	0.637																																					p.L5fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.15delG	6						.						63.0	74.0	70.0					6																	33169037		1912	4116	6028	33277015	SO:0001589	frameshift_variant	7922	exon1			AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"""Solute carriers"""	4927	protein-coding gene	gene with protein product		601416	"""HLA class II region expressed gene KE4"""	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.15delG	6.37:g.33169037delG	ENSP00000363809:p.Leu5fs		33277015	NM_006979	B0UXF6|Q5STP8|Q9UIQ0	Frame_Shift_Del	DEL	ENST00000374677.3	37	CCDS43453.1																																																																																				0.637	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076499.2	NM_006979	
SPDEF	25803	broad.mit.edu	37	6	34511883	34511883	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:34511883T>C	ENST00000374037.3	-	2	764	c.350A>G	c.(349-351)cAc>cGc	p.H117R	SPDEF_ENST00000544425.1_Missense_Mutation_p.H117R	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	117					cell differentiation (GO:0030154)|intestinal epithelial cell development (GO:0060576)|lung goblet cell differentiation (GO:0060480)|multicellular organismal development (GO:0007275)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell fate commitment (GO:0010455)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.H117R(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						CTCCAGCGAGTGCTCCTCCAA	0.652																																					p.H117R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A350G	6						.						54.0	48.0	50.0					6																	34511883		2203	4300	6503	34619861	SO:0001583	missense	25803	exon2			AF071538	CCDS4794.1, CCDS59013.1	6p21.3	2013-08-07	2013-08-07		ENSG00000124664	ENSG00000124664			17257	protein-coding gene	gene with protein product		608144	"""SAM pointed domain containing ets transcription factor"""			10625666, 6857767	Standard	NM_012391		Approved	PDEF, bA375E1.3	uc003ojq.2	O95238	OTTHUMG00000014548	ENST00000374037.3:c.350A>G	6.37:g.34511883T>C	ENSP00000363149:p.His117Arg		34619861	NM_012391	B4DWH8|F5H778	Missense_Mutation	SNP	ENST00000374037.3	37	CCDS4794.1	.	.	.	.	.	.	.	.	.	.	T	9.118	1.008237	0.19199	.	.	ENSG00000124664	ENST00000374037;ENST00000544425	T;T	0.28895	1.59;1.59	5.12	3.88	0.44766	Sterile alpha motif/pointed domain (1);	1.387120	0.04245	N	0.337562	T	0.07773	0.0195	N	0.12746	0.255	0.34049	D	0.655854	B;B	0.12013	0.005;0.001	B;B	0.06405	0.002;0.002	T	0.10291	-1.0636	10	0.13853	T	0.58	.	11.3671	0.49679	0.0:0.0:0.1517:0.8483	.	117;117	F5H778;O95238	.;SPDEF_HUMAN	R	117	ENSP00000363149:H117R;ENSP00000442715:H117R	ENSP00000363149:H117R	H	-	2	0	SPDEF	34619861	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	4.273000	0.58914	1.932000	0.55993	0.477000	0.44152	CAC		0.652	SPDEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040246.1	NM_012391	
TAF11	6882	broad.mit.edu	37	6	34846381	34846381	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:34846381delT	ENST00000361288.4	-	5	753	c.622delA	c.(622-624)atcfs	p.I209fs	UHRF1BP1_ENST00000452449.2_Intron|TAF11_ENST00000420584.2_3'UTR	NM_005643.3	NP_005634.1	Q15544	TAF11_HUMAN	TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa	209					gene expression (GO:0010467)|positive regulation by host of viral transcription (GO:0043923)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)	p.I208fs*>4(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6						AAGAAGATGATTTTTTTGTGC	0.423																																					p.I208fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.622delA	6						.						223.0	209.0	214.0					6																	34846381		2203	4300	6503	34954359	SO:0001589	frameshift_variant	6882	exon5			X83928	CCDS4797.1, CCDS59014.1	6p21	2008-02-05	2002-08-29	2001-12-07	ENSG00000064995	ENSG00000064995			11544	protein-coding gene	gene with protein product		600772	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, I, 28kD"""	TAF2I		7729427, 8820923	Standard	NM_005643		Approved	TAFII28	uc003ojw.2	Q15544	OTTHUMG00000014556	ENST00000361288.4:c.622delA	6.37:g.34846381delT	ENSP00000354633:p.Ile209fs		34954359	NM_005643	B2R8R3|B4DY18|Q9UHS0	Frame_Shift_Del	DEL	ENST00000361288.4	37	CCDS4797.1																																																																																				0.423	TAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040259.1	NM_005643	
TCP11	6954	broad.mit.edu	37	6	35086248	35086248	+	Missense_Mutation	SNP	C	C	T	rs149685630		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:35086248C>T	ENST00000512012.1	-	9	1466	c.1310G>A	c.(1309-1311)tGt>tAt	p.C437Y	TCP11_ENST00000412155.2_Missense_Mutation_p.C399Y|TCP11_ENST00000311875.5_Missense_Mutation_p.C450Y|TCP11_ENST00000418521.2_Missense_Mutation_p.C374Y|TCP11_ENST00000373974.4_Missense_Mutation_p.C404Y|TCP11_ENST00000444780.2_Missense_Mutation_p.C445Y|TCP11_ENST00000373979.2_Missense_Mutation_p.C375Y|TCP11_ENST00000244645.3_Missense_Mutation_p.C375Y			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	437					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.C450Y(1)|p.C375Y(1)		breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						AAGAACCAAACAGCATTTGAG	0.463																																					p.C450Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1349A	6						.						62.0	60.0	61.0					6																	35086248		2203	4300	6503	35194226	SO:0001583	missense	6954	exon10				CCDS4799.1, CCDS47413.1, CCDS59015.1, CCDS59016.1, CCDS59017.1, CCDS59018.1	6p21.31	2012-09-20	2012-09-20		ENSG00000124678	ENSG00000124678			11658	protein-coding gene	gene with protein product	"""fertilization-promoting peptide receptor"""	186982	"""t-complex 11 (a murine tcp homolog)"", ""t-complex 11 homolog (mouse)"""	D6S230E		1427894, 11756566, 21597245	Standard	NM_001093728		Approved	KIAA0229, FPPR	uc003okd.2	Q8WWU5	OTTHUMG00000014560	ENST00000512012.1:c.1310G>A	6.37:g.35086248C>T	ENSP00000425995:p.Cys437Tyr		35194226	NM_001093728	B2RCE9|B3KQ27|B7Z7B5|B7Z7G1|B7Z7H4|B7Z7S8|E7EP29|J3KNG1|Q8NF85|Q9NQZ9|Q9NR39	Missense_Mutation	SNP	ENST00000512012.1	37		.	.	.	.	.	.	.	.	.	.	C	13.26	2.185590	0.38609	.	.	ENSG00000124678	ENST00000373979;ENST00000412155;ENST00000244645;ENST00000311875;ENST00000444780;ENST00000373974;ENST00000418521;ENST00000512012	T;T;T;T;T;T;T;T	0.11277	2.79;2.79;2.79;2.79;2.79;2.79;2.79;2.79	5.42	5.42	0.78866	.	0.172165	0.41500	D	0.000861	T	0.10380	0.0254	L	0.50847	1.595	0.36671	D	0.87851	D;D;D;D;D;P	0.71674	0.993;0.979;0.996;0.998;0.996;0.925	P;P;D;D;D;P	0.73380	0.877;0.877;0.949;0.98;0.949;0.578	T	0.10451	-1.0629	10	0.02654	T	1	.	10.6841	0.45833	0.1459:0.7128:0.1412:0.0	.	404;399;445;510;437;375	B7Z7G1;E7EP29;B7Z7B5;Q5TB88;Q8WWU5;Q8WWU5-2	.;.;.;.;TCP11_HUMAN;.	Y	375;399;375;450;445;404;374;437	ENSP00000363091:C375Y;ENSP00000402816:C399Y;ENSP00000244645:C375Y;ENSP00000308708:C450Y;ENSP00000404479:C445Y;ENSP00000363085:C404Y;ENSP00000415320:C374Y;ENSP00000425995:C437Y	ENSP00000244645:C375Y	C	-	2	0	TCP11	35194226	0.883000	0.30277	1.000000	0.80357	0.991000	0.79684	1.388000	0.34442	2.537000	0.85549	0.563000	0.77884	TGT		0.463	TCP11-014	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000370354.1	NM_001093728	
SCUBE3	222663	broad.mit.edu	37	6	35208262	35208262	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:35208262G>A	ENST00000274938.7	+	9	1064	c.1064G>A	c.(1063-1065)tGt>tAt	p.C355Y	SCUBE3_ENST00000394681.1_Missense_Mutation_p.C371Y	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3									p.C355Y(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						ATCACCCACTGTGGGGGTAAG	0.542																																					p.C355Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1064A	6						.						160.0	129.0	139.0					6																	35208262		2203	4300	6503	35316240	SO:0001583	missense	222663	exon9			AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.1064G>A	6.37:g.35208262G>A	ENSP00000274938:p.Cys355Tyr		35316240	NM_152753		Missense_Mutation	SNP	ENST00000274938.7	37	CCDS4800.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.925296	0.92319	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	D;D	0.90955	-2.76;-2.76	5.77	5.77	0.91146	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.95965	0.8686	M	0.86573	2.825	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.85130	0.997;0.993	D	0.95923	0.8932	10	0.87932	D	0	.	19.9983	0.97395	0.0:0.0:1.0:0.0	.	371;355	Q8IX30-2;Q8IX30	.;SCUB3_HUMAN	Y	371;355	ENSP00000378174:C371Y;ENSP00000274938:C355Y	ENSP00000274938:C355Y	C	+	2	0	SCUBE3	35316240	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.751000	0.98889	2.724000	0.93272	0.561000	0.74099	TGT		0.542	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1	NM_152753	
MTCH1	23787	broad.mit.edu	37	6	36936738	36936738	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:36936738G>A	ENST00000373627.5	-	12	1235	c.1111C>T	c.(1111-1113)Cga>Tga	p.R371*	MTCH1_ENST00000373616.5_Nonsense_Mutation_p.R354*|MTCH1_ENST00000471737.1_5'UTR	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	371					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|neuronal ion channel clustering (GO:0045161)|positive regulation of apoptotic process (GO:0043065)|regulation of signal transduction (GO:0009966)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)		p.R354*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						CTGGAGCCTCGGAAGAGCTGG	0.557																																					p.R354X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1060T	6						.						70.0	64.0	66.0					6																	36936738		2203	4300	6503	37044716	SO:0001587	stop_gained	23787	exon12			AF151822	CCDS4828.1, CCDS64411.1	6p21.2	2013-05-22	2011-05-19		ENSG00000137409	ENSG00000137409		"""Solute carriers"""	17586	protein-coding gene	gene with protein product	"""solute carrier family 25, member 49"""	610449	"""mitochondrial carrier homolog 1 (C. elegans)"""			12377771	Standard	NM_014341		Approved	CGI-64, PSAP, SLC25A49	uc003ond.2	Q9NZJ7	OTTHUMG00000014614	ENST00000373627.5:c.1111C>T	6.37:g.36936738G>A	ENSP00000362730:p.Arg371*		37044716	NM_014341	A8KAX5|B2RCE3|Q6PK60|Q6UX45|Q7L465|Q9BW23|Q9NZR6|Q9UJZ5	Nonsense_Mutation	SNP	ENST00000373627.5	37		.	.	.	.	.	.	.	.	.	.	G	23.6	4.433952	0.83776	.	.	ENSG00000137409	ENST00000373616;ENST00000373627;ENST00000337855	.	.	.	5.16	5.16	0.70880	.	0.752712	0.11041	N	0.606152	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7738	0.57436	0.0:0.0:0.8366:0.1634	.	.	.	.	X	354;371;290	.	ENSP00000338712:R290X	R	-	1	2	MTCH1	37044716	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	4.195000	0.58400	2.414000	0.81942	0.655000	0.94253	CGA		0.557	MTCH1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040396.1	NM_014341	
MDGA1	266727	broad.mit.edu	37	6	37622673	37622673	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:37622673C>T	ENST00000434837.3	-	5	1793	c.615G>A	c.(613-615)cgG>cgA	p.R205R	MDGA1_ENST00000297153.7_Silent_p.R205R|MDGA1_ENST00000505425.1_Silent_p.R205R	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	205	Ig-like 2.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)		p.R205R(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						AGTCCTGGGGCCGCAGGTTCT	0.612																																					p.R205R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G615A	6						.						95.0	105.0	102.0					6																	37622673		2123	4219	6342	37730651	SO:0001819	synonymous_variant	266727	exon5			AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.615G>A	6.37:g.37622673C>T			37730651	NM_153487	A6NHG0|Q8NBE3	Silent	SNP	ENST00000434837.3	37	CCDS47417.1																																																																																				0.612	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3		
LRFN2	57497	broad.mit.edu	37	6	40399635	40399635	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:40399635G>A	ENST00000338305.6	-	2	1760	c.1218C>T	c.(1216-1218)agC>agT	p.S406S		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	406						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.S406S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CACCTCCCCGGCTGGTCTTGC	0.652																																					p.S406S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1218T	6						.						41.0	44.0	43.0					6																	40399635		2203	4300	6503	40507613	SO:0001819	synonymous_variant	57497	exon2			AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.1218C>T	6.37:g.40399635G>A			40507613	NM_020737	A5PKU3|Q5SYP9	Silent	SNP	ENST00000338305.6	37	CCDS34443.1																																																																																				0.652	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372	
LRFN2	57497	broad.mit.edu	37	6	40399979	40399979	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:40399979T>A	ENST00000338305.6	-	2	1416	c.874A>T	c.(874-876)Acc>Tcc	p.T292S		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	292	Ig-like.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.T292S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GTGTGCTGGGTGATGAGAGGC	0.622																																					p.T292S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A874T	6						.						45.0	48.0	47.0					6																	40399979		2203	4300	6503	40507957	SO:0001583	missense	57497	exon2			AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.874A>T	6.37:g.40399979T>A	ENSP00000345985:p.Thr292Ser		40507957	NM_020737	A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.105701	0.77096	.	.	ENSG00000156564	ENST00000338305	T	0.75367	-0.93	5.7	5.7	0.88788	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.78149	0.4238	L	0.57130	1.785	0.80722	D	1	D	0.59357	0.985	D	0.69307	0.963	T	0.76716	-0.2857	10	0.31617	T	0.26	.	14.7819	0.69774	0.0:0.0:0.0:1.0	.	292	Q9ULH4	LRFN2_HUMAN	S	292	ENSP00000345985:T292S	ENSP00000345985:T292S	T	-	1	0	LRFN2	40507957	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.027000	0.88791	2.178000	0.69098	0.533000	0.62120	ACC		0.622	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372	
LRFN2	57497	broad.mit.edu	37	6	40400277	40400277	+	Silent	SNP	G	G	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:40400277G>C	ENST00000338305.6	-	2	1118	c.576C>G	c.(574-576)acC>acG	p.T192T		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	192						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.T192T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGTCTGCAAAGGTGCCCTCGG	0.627																																					p.T192T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C576G	6						.						82.0	84.0	83.0					6																	40400277		2203	4300	6503	40508255	SO:0001819	synonymous_variant	57497	exon2			AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.576C>G	6.37:g.40400277G>C			40508255	NM_020737	A5PKU3|Q5SYP9	Silent	SNP	ENST00000338305.6	37	CCDS34443.1																																																																																				0.627	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372	
UNC5CL	222643	broad.mit.edu	37	6	41001858	41001858	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:41001858C>T	ENST00000373164.1	-	2	508	c.448G>A	c.(448-450)Gcc>Acc	p.A150T	UNC5CL_ENST00000244565.3_Missense_Mutation_p.A150T|UNC5CL_ENST00000470102.1_5'Flank			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	150	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)	p.A150T(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGCGATGGGGCGTCCGACAGG	0.647																																					p.A150T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G448A	6						.						29.0	32.0	31.0					6																	41001858		2203	4300	6503	41109836	SO:0001583	missense	222643	exon3			BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"""ZU5 and death domain containing"""					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.448G>A	6.37:g.41001858C>T	ENSP00000362258:p.Ala150Thr		41109836	NM_173561	Q5TGU1	Missense_Mutation	SNP	ENST00000373164.1	37	CCDS4847.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987578	0.35036	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	T;T	0.42131	0.98;0.98	4.78	4.78	0.61160	ZU5 (2);	0.127524	0.35838	N	0.002959	T	0.22475	0.0542	L	0.39633	1.23	0.80722	D	1	P	0.48294	0.908	P	0.45610	0.487	T	0.02385	-1.1167	10	0.11182	T	0.66	-17.4259	13.1896	0.59702	0.0:1.0:0.0:0.0	.	150	Q8IV45	UN5CL_HUMAN	T	150	ENSP00000244565:A150T;ENSP00000362258:A150T	ENSP00000244565:A150T	A	-	1	0	UNC5CL	41109836	0.975000	0.34042	0.931000	0.37212	0.222000	0.24845	2.297000	0.43593	2.486000	0.83907	0.655000	0.94253	GCC		0.647	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1	NM_173561	
TREML2	79865	broad.mit.edu	37	6	41165903	41165903	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:41165903C>T	ENST00000483722.1	-	2	505	c.320G>A	c.(319-321)cGc>cAc	p.R107H		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	107	Ig-like V-type.				T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.R166H(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGAGGTGTTGCGCATGCACCA	0.627																																					p.R107H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G320A	6						.						56.0	54.0	55.0					6																	41165903		2203	4296	6499	41273881	SO:0001583	missense	79865	exon2			AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"""Immunoglobulin superfamily / V-set domain containing"""	21092	protein-coding gene	gene with protein product	"""TREM-like transcript 2"""	609715	"""chromosome 6 open reading frame 76"""	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.320G>A	6.37:g.41165903C>T	ENSP00000418767:p.Arg107His		41273881	NM_024807	Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Missense_Mutation	SNP	ENST00000483722.1	37	CCDS4853.2	.	.	.	.	.	.	.	.	.	.	.	19.18	3.776935	0.70107	.	.	ENSG00000112195	ENST00000483722	T	0.65732	-0.17	4.75	3.87	0.44632	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.226650	0.31495	N	0.007541	T	0.70064	0.3181	M	0.76838	2.35	0.34709	D	0.727502	D	0.89917	1.0	D	0.97110	1.0	T	0.75651	-0.3244	10	0.72032	D	0.01	-23.457	10.6192	0.45470	0.1924:0.8076:0.0:0.0	.	107	Q5T2D2	TRML2_HUMAN	H	107	ENSP00000418767:R107H	ENSP00000418767:R107H	R	-	2	0	TREML2	41273881	0.991000	0.36638	0.995000	0.50966	0.921000	0.55340	3.388000	0.52509	1.109000	0.41680	0.563000	0.77884	CGC		0.627	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807	
FOXP4	116113	broad.mit.edu	37	6	41557573	41557573	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:41557573C>A	ENST00000307972.4	+	9	1142	c.1130C>A	c.(1129-1131)cCc>cAc	p.P377H	FOXP4_ENST00000373063.3_Missense_Mutation_p.P376H|FOXP4_ENST00000373060.1_Missense_Mutation_p.P377H|FOXP4_ENST00000373057.3_Missense_Mutation_p.P375H|FOXP4_ENST00000409208.1_Missense_Mutation_p.P377H			Q8IVH2	FOXP4_HUMAN	forkhead box P4	377					embryonic foregut morphogenesis (GO:0048617)|heart development (GO:0007507)|lung secretory cell differentiation (GO:0061140)|negative regulation of lung goblet cell differentiation (GO:1901250)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.P376H(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCCTCGGAGCCCAAGCCCTTC	0.701											OREG0004066	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.P377H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1130A	6						.						32.0	35.0	34.0					6																	41557573		2203	4300	6503	41665551	SO:0001583	missense	116113	exon10			AB080747	CCDS4856.1, CCDS34447.1, CCDS34448.1	6p21.1	2008-02-05			ENSG00000137166	ENSG00000137166		"""Forkhead boxes"""	20842	protein-coding gene	gene with protein product		608924					Standard	XM_006714991		Approved	FLJ40908	uc003oql.3	Q8IVH2	OTTHUMG00000014679	ENST00000307972.4:c.1130C>A	6.37:g.41557573C>A	ENSP00000309823:p.Pro377His	902	41665551	NM_001012426	Q5W098|Q7Z7F8|Q8IW55|Q96E19	Missense_Mutation	SNP	ENST00000307972.4	37	CCDS34447.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.556314	0.65425	.	.	ENSG00000137166	ENST00000373060;ENST00000373063;ENST00000409208;ENST00000373057;ENST00000307972	T;T;T;T;T	0.47528	0.84;0.84;1.38;0.84;0.84	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.58481	0.2125	M	0.80746	2.51	0.80722	D	1	D;B;P	0.76494	0.999;0.226;0.609	P;B;B	0.61328	0.887;0.059;0.269	T	0.66348	-0.5946	10	0.87932	D	0	.	12.763	0.57376	0.0:0.9169:0.0:0.0831	.	376;375;377	Q8IW55;Q7Z7F8;Q8IVH2	.;.;FOXP4_HUMAN	H	377;376;377;375;377	ENSP00000362151:P377H;ENSP00000362154:P376H;ENSP00000386958:P377H;ENSP00000362148:P375H;ENSP00000309823:P377H	ENSP00000309823:P377H	P	+	2	0	FOXP4	41665551	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	4.770000	0.62309	2.072000	0.62099	0.305000	0.20034	CCC		0.701	FOXP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000106767.1	NM_138457	
PRPH2	5961	broad.mit.edu	37	6	42672325	42672325	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:42672325C>T	ENST00000230381.5	-	2	845	c.606G>A	c.(604-606)ggG>ggA	p.G202G		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	202					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.G202G(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			CCAGGTACCGCCCATCCACGT	0.572																																					p.G202G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G606A	6						.						123.0	101.0	109.0					6																	42672325		2203	4300	6503	42780303	SO:0001819	synonymous_variant	5961	exon2				CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619		"""Tetraspanins"""	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	"""retinal degeneration, slow (retinitis pigmentosa 7)"", ""retinal degeneration, slow"""	RP7, RDS		1749427	Standard	NM_000322		Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.606G>A	6.37:g.42672325C>T			42780303	NM_000322	Q5TFH5|Q6DK65	Silent	SNP	ENST00000230381.5	37	CCDS4871.1																																																																																				0.572	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040556.1	NM_000322	
TBCC	6903	broad.mit.edu	37	6	42713552	42713552	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:42713552G>T	ENST00000372876.1	-	1	282	c.260C>A	c.(259-261)gCg>gAg	p.A87E	TBCC_ENST00000244625.2_Missense_Mutation_p.A87E	NM_003192.2	NP_003183	Q15814	TBCC_HUMAN	tubulin folding cofactor C	87					'de novo' posttranslational protein folding (GO:0051084)|cell morphogenesis (GO:0000902)|cellular protein metabolic process (GO:0044267)|GTP catabolic process (GO:0006184)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)	chaperone binding (GO:0051087)|GTPase activity (GO:0003924)	p.A87E(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			CCGAGAGGCCGCCTCCTCCAG	0.627																																					p.A87E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C260A	6						.						38.0	45.0	42.0					6																	42713552		2203	4300	6503	42821530	SO:0001583	missense	6903	exon1			U61234	CCDS4872.1	6p21.1	2008-02-05	2006-11-21		ENSG00000124659	ENSG00000124659			11580	protein-coding gene	gene with protein product		602971	"""tubulin-specific chaperone c"""			8706133, 11847227	Standard	NM_003192		Approved	CFC	uc003osl.3	Q15814	OTTHUMG00000014704	ENST00000372876.1:c.260C>A	6.37:g.42713552G>T	ENSP00000361967:p.Ala87Glu		42821530	NM_003192	Q53Y43|Q5T787	Missense_Mutation	SNP	ENST00000372876.1	37	CCDS4872.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867011	0.72065	.	.	ENSG00000124659	ENST00000372876;ENST00000244625	T;T	0.14766	2.48;2.48	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.27384	0.0672	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.00948	-1.1504	10	0.54805	T	0.06	-10.6256	12.9699	0.58508	0.0791:0.0:0.9209:0.0	.	87	Q15814	TBCC_HUMAN	E	87	ENSP00000361967:A87E;ENSP00000244625:A87E	ENSP00000244625:A87E	A	-	2	0	TBCC	42821530	1.000000	0.71417	1.000000	0.80357	0.441000	0.31987	5.979000	0.70508	2.547000	0.85894	0.557000	0.71058	GCG		0.627	TBCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040559.1	NM_003192	
ZNF318	24149	broad.mit.edu	37	6	43308153	43308153	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:43308153G>A	ENST00000361428.2	-	10	3660	c.3583C>T	c.(3583-3585)Cga>Tga	p.R1195*	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1195					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.R1195*(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTCTGCCGTCGCCGTTCTGTC	0.468																																					p.R1195X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3583T	6						.						62.0	66.0	65.0					6																	43308153		2203	4300	6503	43416131	SO:0001587	stop_gained	24149	exon10			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.3583C>T	6.37:g.43308153G>A	ENSP00000354964:p.Arg1195*		43416131	NM_014345	O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Nonsense_Mutation	SNP	ENST00000361428.2	37	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	G	40	8.468457	0.98825	.	.	ENSG00000171467	ENST00000361428	.	.	.	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.7207	12.8373	0.57780	0.0:0.0:0.7285:0.2715	.	.	.	.	X	1195	.	ENSP00000354964:R1195X	R	-	1	2	ZNF318	43416131	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.594000	0.54008	2.683000	0.91414	0.655000	0.94253	CGA		0.468	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345	
SLC35B2	347734	broad.mit.edu	37	6	44222621	44222621	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:44222621C>T	ENST00000393812.3	-	4	1264	c.1121G>A	c.(1120-1122)cGc>cAc	p.R374H	SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000537814.1_Missense_Mutation_p.R241H|MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000393810.1_3'UTR|SLC35B2_ENST00000538577.1_Missense_Mutation_p.R281H	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	374					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)	p.R374H(1)		breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AAAGGCCTGGCGGAGGGTCAT	0.587																																					p.R374H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1121A	6						.						71.0	65.0	67.0					6																	44222621		2203	4300	6503	44330599	SO:0001583	missense	347734	exon4			AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"""Solute carriers"""	16872	protein-coding gene	gene with protein product		610788	"""solute carrier family 35, member B2"""				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.1121G>A	6.37:g.44222621C>T	ENSP00000377401:p.Arg374His		44330599	NM_178148	B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Missense_Mutation	SNP	ENST00000393812.3	37	CCDS34462.1	.	.	.	.	.	.	.	.	.	.	c	24.5	4.542177	0.85917	.	.	ENSG00000157593	ENST00000393812;ENST00000537814;ENST00000538577;ENST00000341553	T;T;T	0.77620	-1.11;-1.11;-1.11	5.17	4.31	0.51392	.	0.000000	0.85682	D	0.000000	D	0.90113	0.6911	H	0.96662	3.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93095	0.6503	10	0.87932	D	0	-14.0322	13.706	0.62639	0.0:0.9251:0.0:0.0749	.	281;374	F5H7Y9;Q8TB61	.;S35B2_HUMAN	H	374;241;281;334	ENSP00000377401:R374H;ENSP00000440340:R241H;ENSP00000443845:R281H	ENSP00000342455:R334H	R	-	2	0	SLC35B2	44330599	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.768000	0.85345	1.194000	0.43101	-0.287000	0.09952	CGC		0.587	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040724.2		
CYP39A1	51302	broad.mit.edu	37	6	46518151	46518151	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:46518151G>A	ENST00000275016.2	-	12	1565	c.1362C>T	c.(1360-1362)gtC>gtT	p.V454V		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	454					bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	24-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033782)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)|steroid 7-alpha-hydroxylase activity (GO:0008387)	p.V454V(1)	EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						CCGGCTGGGGGACACCCACCA	0.443																																					p.V454V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1362T	6						.						105.0	110.0	108.0					6																	46518151		2203	4300	6503	46626110	SO:0001819	synonymous_variant	51302	exon12			AF237982	CCDS4916.1, CCDS75465.1	6p21.1-p11.2	2008-02-05	2003-01-14		ENSG00000146233	ENSG00000146233		"""Cytochrome P450s"""	17449	protein-coding gene	gene with protein product		605994	"""cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1"""			10748047	Standard	NM_016593		Approved		uc003oyf.1	Q9NYL5	OTTHUMG00000014785	ENST00000275016.2:c.1362C>T	6.37:g.46518151G>A			46626110	NM_016593	Q5VTT0|Q96FW5	Silent	SNP	ENST00000275016.2	37	CCDS4916.1																																																																																				0.443	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040787.1		
GPR116	221395	broad.mit.edu	37	6	46834812	46834812	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:46834812C>T	ENST00000283296.7	-	13	1972	c.1684G>A	c.(1684-1686)Gtt>Att	p.V562I	GPR116_ENST00000362015.4_Missense_Mutation_p.V562I|GPR116_ENST00000456426.2_Missense_Mutation_p.V420I|GPR116_ENST00000265417.7_Missense_Mutation_p.V562I|GPR116_ENST00000545669.1_5'UTR	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	562					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V562I(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AGCGGGTGAACAATGACGTCT	0.418																																					p.V562I	NSCLC(59;410 1274 8751 36715 50546)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1684A	6						.						173.0	159.0	164.0					6																	46834812		2203	4300	6503	46942771	SO:0001583	missense	221395	exon13			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.1684G>A	6.37:g.46834812C>T	ENSP00000283296:p.Val562Ile		46942771	NM_001098518	O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377956	0.61735	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000265417	T;T;T;T	0.28666	2.46;2.46;1.6;2.46	5.93	4.16	0.48862	Immunoglobulin subtype (1);	0.000000	0.56097	D	0.000036	T	0.30386	0.0763	L	0.36672	1.1	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.994;0.998;0.982;0.998	T	0.04991	-1.0913	10	0.40728	T	0.16	-15.6768	11.6281	0.51158	0.0:0.8579:0.0:0.1421	.	117;562;420;562	B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;GP116_HUMAN	I	562;562;562;420;562	ENSP00000283296:V562I;ENSP00000354563:V562I;ENSP00000412866:V420I;ENSP00000265417:V562I	ENSP00000265417:V562I	V	-	1	0	GPR116	46942771	0.522000	0.26266	0.640000	0.29408	0.484000	0.33280	1.224000	0.32539	0.854000	0.35336	0.655000	0.94253	GTT		0.418	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234	
GPR116	221395	broad.mit.edu	37	6	46847621	46847621	+	Missense_Mutation	SNP	C	C	T	rs376218074		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:46847621C>T	ENST00000283296.7	-	9	1258	c.970G>A	c.(970-972)Gca>Aca	p.A324T	GPR116_ENST00000362015.4_Missense_Mutation_p.A324T|GPR116_ENST00000456426.2_Intron|GPR116_ENST00000265417.7_Missense_Mutation_p.A324T	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	324	Ig-like 1.				energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A324T(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TTGAAAAGTGCGGTGTAAATC	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		19493	0.0		0.0	False		,,,				2504	0.001				p.A324T	NSCLC(59;410 1274 8751 36715 50546)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G970A	6						.						226.0	188.0	201.0					6																	46847621		2203	4300	6503	46955580	SO:0001583	missense	221395	exon9			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.970G>A	6.37:g.46847621C>T	ENSP00000283296:p.Ala324Thr		46955580	NM_001098518	O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.388603	0.25118	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000265417	T;T;T	0.65549	-0.16;-0.16;-0.16	5.87	-9.87	0.00470	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.596240	0.03416	N	0.205648	T	0.09512	0.0234	N	0.02539	-0.55	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.001	T	0.03403	-1.1040	10	0.08179	T	0.78	0.0166	10.3468	0.43911	0.2005:0.1078:0.0:0.6917	.	324;324	A8K0D8;Q8IZF2	.;GP116_HUMAN	T	324	ENSP00000283296:A324T;ENSP00000354563:A324T;ENSP00000265417:A324T	ENSP00000265417:A324T	A	-	1	0	GPR116	46955580	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.219000	0.01218	-2.055000	0.00899	-0.218000	0.12543	GCA		0.463	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234	
GPR115	221393	broad.mit.edu	37	6	47682305	47682305	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:47682305T>C	ENST00000283303.2	+	6	1582	c.1324T>C	c.(1324-1326)Tgc>Cgc	p.C442R	GPR115_ENST00000327753.3_Missense_Mutation_p.C442R|RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000371220.1_Missense_Mutation_p.C499R	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	442					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.C442R(1)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GCGTCACGTGTGCATCGTGAA	0.483																																					p.C442R	GBM(22;431 510 9010 26644 32828)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1324C	6						.						242.0	215.0	224.0					6																	47682305		2203	4300	6503	47790264	SO:0001583	missense	221393	exon6			AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.1324T>C	6.37:g.47682305T>C	ENSP00000283303:p.Cys442Arg		47790264	NM_153838	B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	ENST00000283303.2	37	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	T	17.03	3.285372	0.59867	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.42900	0.96;0.96;0.96	5.45	5.45	0.79879	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.64338	0.2589	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72915	-0.4147	10	0.87932	D	0	-17.9587	14.9854	0.71345	0.0:0.0:0.0:1.0	.	442	Q8IZF3	GP115_HUMAN	R	499;442;442	ENSP00000360264:C499R;ENSP00000328319:C442R;ENSP00000283303:C442R	ENSP00000283303:C442R	C	+	1	0	GPR115	47790264	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.225000	0.51246	2.197000	0.70478	0.533000	0.62120	TGC		0.483	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838	
TFAP2B	7021	broad.mit.edu	37	6	50805765	50805765	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:50805765G>A	ENST00000393655.3	+	5	1068	c.899G>A	c.(898-900)cGc>cAc	p.R300H	TFAP2B_ENST00000263046.4_Missense_Mutation_p.R309H	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	300			R -> C (in CHAR). {ECO:0000269|PubMed:10802654}.		aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.R300H(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GCGGGCAGGCGCAAAGCAGCA	0.483																																					p.R300H	Pancreas(116;1373 2332 5475 10752)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G899A	6						.						99.0	98.0	99.0					6																	50805765		2203	4300	6503	50913724	SO:0001583	missense	7021	exon5			X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.899G>A	6.37:g.50805765G>A	ENSP00000377265:p.Arg300His		50913724	NM_003221	Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	ENST00000393655.3	37	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	G	33	5.250773	0.95305	.	.	ENSG00000008196	ENST00000393655;ENST00000263046	D;D	0.98060	-4.69;-4.69	5.63	5.63	0.86233	Transcription factor AP-2, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99130	0.9700	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99414	1.0931	10	0.87932	D	0	-25.9059	20.0471	0.97613	0.0:0.0:1.0:0.0	.	300	Q92481	AP2B_HUMAN	H	300;309	ENSP00000377265:R300H;ENSP00000263046:R309H	ENSP00000263046:R309H	R	+	2	0	TFAP2B	50913724	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.815000	0.96918	0.561000	0.74099	CGC		0.483	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221	
MCM3	4172	broad.mit.edu	37	6	52129394	52129394	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:52129394G>T	ENST00000229854.7	-	17	2495	c.2419C>A	c.(2419-2421)Ctc>Atc	p.L807I	MCM3_ENST00000419835.2_Missense_Mutation_p.L761I|MCM3_ENST00000596288.1_Missense_Mutation_p.L852I			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	807					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.L807I(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CCTCAGATGAGGAAGATGATG	0.542																																					p.L807I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2419A	6						.						165.0	137.0	147.0					6																	52129394		2203	4300	6503	52237353	SO:0001583	missense	4172	exon17			X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"""minichromosome maintenance deficient (S. cerevisiae) 3"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"""			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.2419C>A	6.37:g.52129394G>T	ENSP00000229854:p.Leu807Ile		52237353	NM_002388	B4DWW4|Q92660|Q9BTR3|Q9NUE7	Missense_Mutation	SNP	ENST00000229854.7	37		.	.	.	.	.	.	.	.	.	.	G	19.24	3.789389	0.70337	.	.	ENSG00000112118	ENST00000229854;ENST00000419835	T;T	0.02737	4.25;4.18	5.39	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.07593	0.0191	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	0.995;1.0	P;D	0.91635	0.788;0.999	T	0.18871	-1.0323	10	0.30854	T	0.27	-20.0402	11.1095	0.48223	0.1467:0.0:0.8533:0.0	.	761;807	B4DUQ9;P25205	.;MCM3_HUMAN	I	807;761	ENSP00000229854:L807I;ENSP00000388647:L761I	ENSP00000229854:L807I	L	-	1	0	MCM3	52237353	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.983000	0.63832	1.512000	0.48834	0.655000	0.94253	CTC		0.542	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1		
GSTA1	2938	broad.mit.edu	37	6	52656732	52656732	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:52656732A>G	ENST00000334575.5	-	7	748	c.593T>C	c.(592-594)cTa>cCa	p.L198P	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	198	GST C-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|metabolic process (GO:0008152)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)	p.L198P(1)		large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Glutathione(DB00143)	GCCAGGCTGTAGAAACTTCTT	0.473																																					p.L198P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T593C	6						.						128.0	127.0	127.0					6																	52656732		2203	4300	6503	52764691	SO:0001583	missense	2938	exon7				CCDS4945.1	6p12.2	2012-06-21	2008-11-26		ENSG00000243955	ENSG00000243955	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4626	protein-coding gene	gene with protein product		138359	"""glutathione S-transferase A1"""			9503014	Standard	NM_145740		Approved		uc003paz.3	P08263	OTTHUMG00000014861	ENST00000334575.5:c.593T>C	6.37:g.52656732A>G	ENSP00000335620:p.Leu198Pro		52764691	NM_145740	Q14750|Q5GHF8|Q5SZC1	Missense_Mutation	SNP	ENST00000334575.5	37	CCDS4945.1	.	.	.	.	.	.	.	.	.	.	.	11.40	1.626273	0.28978	.	.	ENSG00000243955	ENST00000334575	T	0.15718	2.4	2.44	2.44	0.29823	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);	0.000000	0.56097	D	0.000029	T	0.43942	0.1270	H	0.97707	4.06	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.59182	-0.7502	10	0.87932	D	0	.	10.0672	0.42311	1.0:0.0:0.0:0.0	.	198	P08263	GSTA1_HUMAN	P	198	ENSP00000335620:L198P	ENSP00000335620:L198P	L	-	2	0	GSTA1	52764691	0.911000	0.30947	0.995000	0.50966	0.146000	0.21551	5.795000	0.69074	0.868000	0.35678	0.172000	0.16884	CTA		0.473	GSTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040922.1		
BAG2	9532	broad.mit.edu	37	6	57048983	57048983	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:57048983A>C	ENST00000370693.5	+	3	1003	c.631A>C	c.(631-633)Aat>Cat	p.N211H	BAG2_ENST00000545080.1_Missense_Mutation_p.N178H	NM_004282.3	NP_004273.1	O95816	BAG2_HUMAN	BCL2-associated athanogene 2	211					protein folding (GO:0006457)|protein metabolic process (GO:0019538)		identical protein binding (GO:0042802)	p.N211H(1)		endometrium(1)|large_intestine(1)	2	Lung NSC(77;0.126)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AAGCAGATTCAATTAGTCTTC	0.328																																					p.N211H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A631C	6						.						41.0	41.0	41.0					6																	57048983		2202	4296	6498	57156942	SO:0001583	missense	9532	exon3			AF095192	CCDS4961.1	6p12.3-p11.2	2008-02-05			ENSG00000112208	ENSG00000112208			938	protein-coding gene	gene with protein product		603882				9873016	Standard	NM_004282		Approved		uc003pdr.3	O95816	OTTHUMG00000014919	ENST00000370693.5:c.631A>C	6.37:g.57048983A>C	ENSP00000359727:p.Asn211His		57156942	NM_004282	B4DXE2|Q08AS9|Q6FID0	Missense_Mutation	SNP	ENST00000370693.5	37	CCDS4961.1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.807843	0.50421	.	.	ENSG00000112208	ENST00000370693;ENST00000545080	.	.	.	5.86	5.86	0.93980	.	0.172814	0.41001	D	0.000962	T	0.16811	0.0404	N	0.08118	0	0.34158	D	0.668383	B;B	0.32693	0.085;0.38	B;B	0.31751	0.135;0.085	T	0.21999	-1.0229	9	0.87932	D	0	.	13.6349	0.62217	1.0:0.0:0.0:0.0	.	178;211	B4DXE2;O95816	.;BAG2_HUMAN	H	211;178	.	ENSP00000359727:N211H	N	+	1	0	BAG2	57156942	1.000000	0.71417	0.889000	0.34880	0.078000	0.17371	6.197000	0.72100	2.239000	0.73571	0.528000	0.53228	AAT		0.328	BAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041044.2		
KHDRBS2	202559	broad.mit.edu	37	6	62757846	62757846	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:62757846T>C	ENST00000281156.4	-	3	551	c.273A>G	c.(271-273)ctA>ctG	p.L91L		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	91	KH. {ECO:0000255|PROSITE- ProRule:PRU00117}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)	p.L91L(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TTTCTTCCTGTAGCCTCTTCA	0.368																																					p.L91L												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.A273G	6						.						165.0	155.0	158.0					6																	62757846		2203	4300	6503	62815805	SO:0001819	synonymous_variant	202559	exon3			BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.273A>G	6.37:g.62757846T>C			62815805	NM_152688	A8K7M8|Q8N4I4|Q8TCZ4	Silent	SNP	ENST00000281156.4	37	CCDS4963.1																																																																																				0.368	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688	
SMAP1	60682	broad.mit.edu	37	6	71546674	71546674	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:71546674delA	ENST00000370455.3	+	7	855	c.607delA	c.(607-609)aaafs	p.K204fs	SMAP1_ENST00000316999.5_Frame_Shift_Del_p.K177fs|SMAP1_ENST00000370452.3_Frame_Shift_Del_p.K177fs	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	204					positive regulation of erythrocyte differentiation (GO:0045648)|regulation of ARF GTPase activity (GO:0032312)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.S178fs*15(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						ACTGGAGCCTAAAAAAAGTAC	0.328																																					p.K203fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.607delA	6						.						40.0	42.0	41.0					6																	71546674		2203	4300	6503	71603395	SO:0001589	frameshift_variant	60682	exon7			AK023221	CCDS4973.1, CCDS43478.1, CCDS64459.1, CCDS75478.1	6q12-q13	2009-11-30	2008-09-05		ENSG00000112305	ENSG00000112305		"""ADP-ribosylation factor GTPase activating proteins"""	19651	protein-coding gene	gene with protein product		611372	"""stromal membrane-associated protein 1"", ""stromal membrane-associated GTPase-activating protein 1"""			9644265, 12119110	Standard	NM_001044305		Approved	FLJ13159, SMAP-1	uc003pfr.3	Q8IYB5	OTTHUMG00000014996	ENST00000370455.3:c.607delA	6.37:g.71546674delA	ENSP00000359484:p.Lys204fs		71603395	NM_001044305	Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4	Frame_Shift_Del	DEL	ENST00000370455.3	37	CCDS43478.1																																																																																				0.328	SMAP1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041149.1	NM_001044305	
RIMS1	22999	broad.mit.edu	37	6	72678732	72678732	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:72678732A>G	ENST00000521978.1	+	2	211	c.211A>G	c.(211-213)Aga>Gga	p.R71G	RIMS1_ENST00000520567.1_Missense_Mutation_p.R71G|RIMS1_ENST00000517960.1_Missense_Mutation_p.R71G|RIMS1_ENST00000348717.5_Missense_Mutation_p.R71G|RIMS1_ENST00000518273.1_Missense_Mutation_p.R71G|RIMS1_ENST00000264839.7_Missense_Mutation_p.R71G|RIMS1_ENST00000491071.2_Missense_Mutation_p.R71G|RIMS1_ENST00000522291.1_Missense_Mutation_p.R71G	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	71	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.R71G(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CAAAACACCAAGAAATGCTGA	0.453																																					p.R71G												.	.	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)	c.A211G	6						.						138.0	142.0	141.0					6																	72678732		1930	4131	6061	72735453	SO:0001583	missense	22999	exon2			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.211A>G	6.37:g.72678732A>G	ENSP00000428417:p.Arg71Gly		72735453	NM_014989	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	A	14.29	2.490636	0.44249	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	T;T;T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22	5.31	5.31	0.75309	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	.	.	.	.	T	0.10380	0.0254	N	0.08118	0	0.80722	D	1	B	0.18166	0.026	B	0.15052	0.012	T	0.06445	-1.0826	9	0.66056	D	0.02	.	11.6635	0.51361	1.0:0.0:0.0:0.0	.	71	Q86UR5	RIMS1_HUMAN	G	71	ENSP00000430101:R71G;ENSP00000275037:R71G;ENSP00000264839:R71G;ENSP00000429959:R71G;ENSP00000430408:R71G;ENSP00000430502:R71G;ENSP00000430932:R71G;ENSP00000428417:R71G	ENSP00000264839:R71G	R	+	1	2	RIMS1	72735453	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.247000	0.58750	1.990000	0.58119	0.533000	0.62120	AGA		0.453	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1		
RIMS1	22999	broad.mit.edu	37	6	73043538	73043538	+	Splice_Site	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:73043538G>T	ENST00000521978.1	+	29	4366	c.4366G>T	c.(4366-4368)Gag>Tag	p.E1456*	RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000517960.1_Splice_Site_p.E1239*|RIMS1_ENST00000348717.5_Splice_Site_p.E1239*|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000538414.1_Splice_Site_p.E262*|RIMS1_ENST00000264839.7_Splice_Site_p.E1305*|RIMS1_ENST00000491071.2_Splice_Site_p.E1279*|RIMS1_ENST00000401910.3_Splice_Site_p.E776*|RIMS1_ENST00000522291.1_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1456					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.E1456*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TAGTCAAACAGGTGAGTGATG	0.428																																					p.E776X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2326T	6						.						56.0	56.0	56.0					6																	73043538		1970	4146	6116	73100259	SO:0001630	splice_region_variant	22999	exon20			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.4366+1G>T	6.37:g.73043538G>T			73100259	NM_001168407	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Nonsense_Mutation	SNP	ENST00000521978.1	37	CCDS47449.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	45|45|45	11.659519|11.659519|11.659519	0.99588|0.99588|0.99588	.|.|.	.|.|.	ENSG00000079841|ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000264839;ENST00000517960;ENST00000521978;ENST00000401910;ENST00000453976;ENST00000370420;ENST00000538414|ENST00000522211|ENST00000517433	.|.|.	.|.|.	.|.|.	5.67|5.67|5.67	5.67|5.67|5.67	0.87782|0.87782|0.87782	.|.|.	0.081544|.|.	0.50627|.|.	D|.|.	0.000107|.|.	.|T|T	.|0.75852|0.75852	.|0.3906|0.3906	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.72786|0.72786	.|-0.4188|-0.4188	.|3|3	0.45353|.|.	T|.|.	0.12|.|.	-26.1513|-26.1513|-26.1513	20.1358|20.1358|20.1358	0.98028|0.98028|0.98028	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|H|I	1279;1305;1279;1239;1305;1239;1456;776;621;504;262|373|801	.|.|.	ENSP00000264839:E1305X|.|.	E|Q|R	+|+|+	1|3|2	0|2|0	RIMS1|RIMS1|RIMS1	73100259|73100259|73100259	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.590000|0.590000|0.590000	0.36582|0.36582|0.36582	9.813000|9.813000|9.813000	0.99286|0.99286|0.99286	2.833000|2.833000|2.833000	0.97629|0.97629|0.97629	0.585000|0.585000|0.585000	0.79938|0.79938|0.79938	GAG|CAG|AGA		0.428	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1		Nonsense_Mutation
RIMS1	22999	broad.mit.edu	37	6	73100416	73100416	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:73100416A>G	ENST00000521978.1	+	30	4483	c.4483A>G	c.(4483-4485)Aac>Gac	p.N1495D	RIMS1_ENST00000520567.1_Missense_Mutation_p.N1145D|RIMS1_ENST00000517827.1_Missense_Mutation_p.N629D|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000523963.1_Missense_Mutation_p.N620D|RIMS1_ENST00000517960.1_Missense_Mutation_p.N1278D|RIMS1_ENST00000348717.5_Missense_Mutation_p.N1278D|RIMS1_ENST00000425662.2_Missense_Mutation_p.N563D|RIMS1_ENST00000518273.1_Missense_Mutation_p.N1174D|RIMS1_ENST00000538414.1_Missense_Mutation_p.N301D|RIMS1_ENST00000414192.2_Missense_Mutation_p.N22D|RIMS1_ENST00000264839.7_Missense_Mutation_p.N1344D|RIMS1_ENST00000491071.2_Missense_Mutation_p.N1318D|RIMS1_ENST00000401910.3_Missense_Mutation_p.N815D|RIMS1_ENST00000522291.1_Missense_Mutation_p.N1094D	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1495					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.N1495D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TGGCAGCATCAACAGTTACAG	0.478																																					p.N563D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1687G	6						.						73.0	76.0	75.0					6																	73100416		2071	4225	6296	73157137	SO:0001583	missense	22999	exon18			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.4483A>G	6.37:g.73100416A>G	ENSP00000428417:p.Asn1495Asp		73157137	NM_001168409	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.7|24.7	4.561569|4.561569	0.86335|0.86335	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827;ENST00000370420;ENST00000538414;ENST00000414192|ENST00000517433	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.19669|.	2.32;2.53;2.48;2.53;2.61;2.62;2.61;2.45;2.55;2.59;2.6;2.33;2.59;2.13;2.13;2.21|.	5.58|5.58	4.38|4.38	0.52667|0.52667	.|.	0.081298|.	0.50627|.	D|.	0.000117|.	T|T	0.63153|0.63153	0.2487|0.2487	M|M	0.76328|0.76328	2.33|2.33	0.53688|0.53688	D|D	0.99997|0.99997	D;D;P;P;D;D;P;D;D;P;D;D;D|.	0.89917|.	0.991;0.991;0.943;0.874;0.994;1.0;0.77;0.981;0.992;0.856;0.982;0.989;0.982|.	P;D;P;P;D;D;B;P;P;P;D;P;D|.	0.87578|.	0.876;0.93;0.759;0.689;0.991;0.998;0.308;0.833;0.906;0.652;0.952;0.829;0.952|.	T|T	0.64956|0.64956	-0.6285|-0.6285	10|5	0.51188|.	T|.	0.08|.	-23.1089|-23.1089	12.5903|12.5903	0.56439|0.56439	0.8611:0.1389:0.0:0.0|0.8611:0.1389:0.0:0.0	.|.	119;301;629;620;1344;815;1094;398;1174;1278;571;1318;1495|.	B7Z6K9;B7Z7W2;B7Z3S3;E9PHF5;E9PHR1;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5|.	.;.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN|.	D|R	1318;1344;1318;1278;1174;1094;1344;1278;1174;1145;1094;1495;815;620;563;660;629;543;301;22|840	ENSP00000430101:N1318D;ENSP00000275037:N1278D;ENSP00000264839:N1344D;ENSP00000429959:N1278D;ENSP00000430408:N1174D;ENSP00000430502:N1145D;ENSP00000430932:N1094D;ENSP00000428417:N1495D;ENSP00000385649:N815D;ENSP00000428328:N620D;ENSP00000411235:N563D;ENSP00000389503:N660D;ENSP00000428367:N629D;ENSP00000359448:N543D;ENSP00000439730:N301D;ENSP00000402273:N22D|.	ENSP00000264839:N1344D|.	N|Q	+|+	1|2	0|0	RIMS1|RIMS1	73157137|73157137	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	7.441000|7.441000	0.80485|0.80485	0.906000|0.906000	0.36621|0.36621	0.421000|0.421000	0.28195|0.28195	AAC|CAA		0.478	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1		
KCNQ5	56479	broad.mit.edu	37	6	73787158	73787158	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:73787158C>T	ENST00000370398.1	+	4	839	c.730C>T	c.(730-732)Cgc>Tgc	p.R244C	KCNQ5_ENST00000370392.1_Missense_Mutation_p.R244C|KCNQ5_ENST00000403813.2_Missense_Mutation_p.R244C|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R244C|KCNQ5_ENST00000342056.2_Missense_Mutation_p.R244C|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R244C|KCNQ5_ENST00000414165.2_Missense_Mutation_p.R244C|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R244C	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	244			R -> C (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)	p.R244C(2)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	CCGCATGGTGCGCATGGACCG	0.438																																					p.R244C	GBM(142;1375 1859 14391 23261 44706)											KCNQ5,large_intestine,colon,Substitution - Missense,0 	.	2	Substitution - Missense(2)	large_intestine(2)	c.C730T	6						.						81.0	77.0	79.0					6																	73787158		2203	4300	6503	73843879	SO:0001583	missense	56479	exon4			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.730C>T	6.37:g.73787158C>T	ENSP00000359425:p.Arg244Cys		73843879	NM_001160133	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	C	33	5.248779	0.95305	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D;D	0.98531	-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98	5.84	5.84	0.93424	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99363	0.9776	H	0.94542	3.55	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.997;0.996;0.999;0.998;0.998;0.99	D	0.98948	1.0793	10	0.87932	D	0	.	20.1438	0.98071	0.0:1.0:0.0:0.0	.	244;244;244;244;244;244	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82;Q9NR82-4	.;.;.;.;KCNQ5_HUMAN;.	C	244	ENSP00000345055:R244C;ENSP00000347326:R244C;ENSP00000359425:R244C;ENSP00000359419:R244C;ENSP00000385501:R244C;ENSP00000347853:R244C;ENSP00000384453:R244C;ENSP00000409861:R244C	ENSP00000345055:R244C	R	+	1	0	KCNQ5	73843879	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.768000	0.95171	0.650000	0.86243	CGC		0.438	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842	
MYO6	4646	broad.mit.edu	37	6	76602382	76602382	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:76602382G>A	ENST00000369977.3	+	28	3221	c.3082G>A	c.(3082-3084)Gcc>Acc	p.A1028T	MYO6_ENST00000369981.3_Missense_Mutation_p.A1028T|MYO6_ENST00000369985.4_Missense_Mutation_p.A1028T|MYO6_ENST00000369975.1_Missense_Mutation_p.A1028T	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	1028					actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)	p.A1028T(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CAGTGATGAGGCCCAGGCCGA	0.617																																					p.A1028T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3082A	6						.						47.0	49.0	49.0					6																	76602382		2203	4300	6503	76659102	SO:0001583	missense	4646	exon28			U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.3082G>A	6.37:g.76602382G>A	ENSP00000358994:p.Ala1028Thr		76659102	NM_004999	A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	37	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.336032	0.41398	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975;ENST00000430435	T;T;T;T;T	0.22134	2.2;2.48;2.42;1.97;2.42	5.65	4.78	0.61160	.	0.298224	0.36972	N	0.002307	T	0.05640	0.0148	N	0.20986	0.625	0.26767	N	0.96987	B;B	0.24483	0.0;0.104	B;B	0.36845	0.001;0.234	T	0.40646	-0.9552	10	0.14252	T	0.57	.	8.0643	0.30651	0.141:0.0:0.728:0.131	.	1028;1028	Q9UM54-2;Q9UM54-1	.;.	T	1028;1028;1028;1028;1028;91	ENSP00000358998:A1028T;ENSP00000359002:A1028T;ENSP00000358994:A1028T;ENSP00000358992:A1028T;ENSP00000399406:A91T	ENSP00000358992:A1028T	A	+	1	0	MYO6	76659102	0.989000	0.36119	0.985000	0.45067	0.948000	0.59901	2.013000	0.40942	1.390000	0.46547	0.491000	0.48974	GCC		0.617	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999	
PHIP	55023	broad.mit.edu	37	6	79675691	79675691	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:79675691A>G	ENST00000275034.4	-	28	3455	c.3288T>C	c.(3286-3288)ccT>ccC	p.P1096P	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1096	Mediates interaction with IRS1. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.P1096P(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		ACAGACTATCAGGGTACTCAA	0.393																																					p.P1096P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3288C	6						.						143.0	152.0	149.0					6																	79675691		2203	4300	6503	79732410	SO:0001819	synonymous_variant	55023	exon28			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.3288T>C	6.37:g.79675691A>G			79732410	NM_017934	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000275034.4	37	CCDS4987.1																																																																																				0.393	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2		
IBTK	25998	broad.mit.edu	37	6	82927805	82927805	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:82927805G>A	ENST00000306270.7	-	10	1847	c.1298C>T	c.(1297-1299)gCc>gTc	p.A433V	IBTK_ENST00000510291.1_Missense_Mutation_p.A433V|IBTK_ENST00000503631.1_Missense_Mutation_p.A433V	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	433					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)	p.A433V(1)		central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		ACGTGGATAGGCCCATCGACA	0.368																																					p.A433V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1298T	6						.						78.0	74.0	75.0					6																	82927805		2203	4300	6503	82984524	SO:0001583	missense	25998	exon10			AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.1298C>T	6.37:g.82927805G>A	ENSP00000305721:p.Ala433Val		82984524	NM_015525	Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	ENST00000306270.7	37	CCDS34490.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.593167	0.46214	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	T;T;T	0.28454	1.85;1.61;1.86	5.64	5.64	0.86602	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (1);	0.105150	0.64402	D	0.000004	T	0.10078	0.0247	L	0.31207	0.915	0.47905	D	0.999546	B;B;B;B	0.21606	0.022;0.058;0.056;0.058	B;B;B;B	0.23419	0.018;0.038;0.046;0.038	T	0.12760	-1.0535	10	0.25751	T	0.34	-10.7854	7.3649	0.26768	0.1994:0.0:0.8006:0.0	.	433;433;433;433	E9PDR5;E7EPI0;Q9P2D0-2;Q9P2D0	.;.;.;IBTK_HUMAN	V	433	ENSP00000305721:A433V;ENSP00000422762:A433V;ENSP00000426405:A433V	ENSP00000305721:A433V	A	-	2	0	IBTK	82984524	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.940000	0.70187	2.658000	0.90341	0.563000	0.77884	GCC		0.368	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525	
TBX18	9096	broad.mit.edu	37	6	85457774	85457774	+	Missense_Mutation	SNP	G	G	A	rs372776015		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:85457774G>A	ENST00000369663.5	-	5	1140	c.803C>T	c.(802-804)cCg>cTg	p.P268L	TBX18_ENST00000606521.1_5'UTR|TBX18_ENST00000606784.1_Missense_Mutation_p.P110L	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	268					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.P268L(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GTGCACTCGCGGTTGGTATTT	0.438																																					p.P268L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C803T	6						.	G	LEU/PRO	0,4406		0,0,2203	81.0	75.0	77.0		803	5.9	1.0	6		77	1,8599	1.2+/-3.3	0,1,4299	no	missense	TBX18	NM_001080508.1	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	268/608	85457774	1,13005	2203	4300	6503	85514493	SO:0001583	missense	9096	exon5			AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.803C>T	6.37:g.85457774G>A	ENSP00000358677:p.Pro268Leu		85514493	NM_001080508	A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372409	0.82573	0.0	1.16E-4	ENSG00000112837	ENST00000416980;ENST00000369663	D	0.92752	-3.1	5.86	5.86	0.93980	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.97185	0.9080	M	0.92169	3.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97362	0.9970	10	0.87932	D	0	.	20.1986	0.98248	0.0:0.0:1.0:0.0	.	184;268	Q8IW86;O95935	.;TBX18_HUMAN	L	183;268	ENSP00000358677:P268L	ENSP00000358677:P268L	P	-	2	0	TBX18	85514493	1.000000	0.71417	0.965000	0.40720	0.227000	0.25037	9.869000	0.99810	2.781000	0.95711	0.650000	0.86243	CCG		0.438	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508	
ZNF292	23036	broad.mit.edu	37	6	87967244	87967244	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:87967244A>G	ENST00000369577.3	+	8	3940	c.3897A>G	c.(3895-3897)tcA>tcG	p.S1299S	ZNF292_ENST00000339907.4_Silent_p.S1294S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1299						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.S1299S(1)|p.S1154S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ATTATTCCTCACAGATTGAAG	0.378																																					p.S1299S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A3897G	6						.						39.0	36.0	37.0					6																	87967244		1844	4092	5936	88023963	SO:0001819	synonymous_variant	23036	exon8			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.3897A>G	6.37:g.87967244A>G			88023963	NM_015021	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Silent	SNP	ENST00000369577.3	37	CCDS47457.1																																																																																				0.378	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021	
RARS2	57038	broad.mit.edu	37	6	88240601	88240601	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:88240601C>A	ENST00000369536.5	-	9	717	c.672G>T	c.(670-672)caG>caT	p.Q224H		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	224					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.Q224H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		GGAAGAACTCCTGTGCTGCTT	0.388																																					p.Q224H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G672T	6						.						208.0	197.0	201.0					6																	88240601		2203	4300	6503	88297320	SO:0001583	missense	57038	exon9			AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	21406	protein-coding gene	gene with protein product	"""arginine tRNA ligase 2, mitochondrial (putative)"""	611524	"""arginyl-tRNA synthetase-like"""	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.672G>T	6.37:g.88240601C>A	ENSP00000358549:p.Gln224His		88297320	NM_020320	B2RDT7|Q96FU5|Q9H8K8	De_novo_Start_OutOfFrame	SNP	ENST00000369536.5	37	CCDS5011.1	.	.	.	.	.	.	.	.	.	.	C	6.674	0.492939	0.12702	.	.	ENSG00000146282	ENST00000369536	T	0.62941	-0.01	6.17	-5.24	0.02789	Arginyl-tRNA synthetase, class Ia, core (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.659654	0.17593	N	0.168696	T	0.23806	0.0576	N	0.21508	0.67	0.27904	N	0.938859	B	0.02656	0.0	B	0.04013	0.001	T	0.19712	-1.0297	10	0.56958	D	0.05	.	13.3999	0.60876	0.1358:0.6097:0.2545:0.0	.	224	Q5T160	SYRM_HUMAN	H	224	ENSP00000358549:Q224H	ENSP00000358549:Q224H	Q	-	3	2	RARS2	88297320	0.579000	0.26725	0.631000	0.29282	0.375000	0.29983	-0.048000	0.11944	-0.944000	0.03686	-0.976000	0.02587	CAG		0.388	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	NM_020320	
RNGTT	8732	broad.mit.edu	37	6	89324092	89324092	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:89324092T>A	ENST00000369485.4	-	15	1715	c.1529A>T	c.(1528-1530)tAt>tTt	p.Y510F	RNGTT_ENST00000538899.1_Missense_Mutation_p.Y427F|RNGTT_ENST00000265607.6_Missense_Mutation_p.Y487F	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	510	GTase.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA processing (GO:0006396)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|mRNA guanylyltransferase activity (GO:0004484)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA guanylyltransferase activity (GO:0008192)|triphosphatase activity (GO:0050355)	p.Y510F(1)		endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		TTTGTTGTCATACTGTTTCAG	0.353																																					p.Y510F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1529T	6						.						186.0	166.0	173.0					6																	89324092		2203	4300	6503	89380811	SO:0001583	missense	8732	exon15			AF025654	CCDS5017.1	6q16	2011-06-09			ENSG00000111880	ENSG00000111880	2.7.7.50	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	10073	protein-coding gene	gene with protein product		603512				9828141, 9512541	Standard	NM_001286428		Approved	HCE, HCE1, hCAP	uc003pmr.2	O60942	OTTHUMG00000015190	ENST00000369485.4:c.1529A>T	6.37:g.89324092T>A	ENSP00000358497:p.Tyr510Phe		89380811	NM_003800	E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Missense_Mutation	SNP	ENST00000369485.4	37	CCDS5017.1	.	.	.	.	.	.	.	.	.	.	T	14.88	2.666845	0.47677	.	.	ENSG00000111880	ENST00000369485;ENST00000265607;ENST00000538899;ENST00000536746	T;T;T	0.25250	1.84;1.81;1.82	5.31	5.31	0.75309	Nucleic acid-binding, OB-fold-like (1);mRNA capping enzyme, C-terminal (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.17152	0.0412	M	0.61703	1.905	0.80722	D	1	B;B;B	0.29136	0.231;0.234;0.062	B;B;B	0.25987	0.065;0.056;0.045	T	0.02797	-1.1109	10	0.48119	T	0.1	.	15.6067	0.76679	0.0:0.0:0.0:1.0	.	427;487;510	B4DSJ8;O60942-2;O60942	.;.;MCE1_HUMAN	F	510;487;427;481	ENSP00000358497:Y510F;ENSP00000265607:Y487F;ENSP00000442609:Y427F	ENSP00000265607:Y487F	Y	-	2	0	RNGTT	89380811	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.997000	0.88414	2.156000	0.67533	0.378000	0.23410	TAT		0.353	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041469.1		
ANKRD6	22881	broad.mit.edu	37	6	90340539	90340539	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:90340539T>G	ENST00000522441.1	+	16	2641	c.2000T>G	c.(1999-2001)cTt>cGt	p.L667R	ANKRD6_ENST00000339746.4_Missense_Mutation_p.L667R|ANKRD6_ENST00000369408.5_Missense_Mutation_p.L632R|ANKRD6_ENST00000447838.2_Missense_Mutation_p.L662R|LYRM2_ENST00000520441.1_Intron|ANKRD6_ENST00000520793.1_Missense_Mutation_p.L603R	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	667					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L667R(1)		NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		GCTCTGGAGCTTACCCAGTAT	0.552																																					p.L662R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1985G	6						.						43.0	45.0	44.0					6																	90340539		1998	4180	6178	90397260	SO:0001583	missense	22881	exon16			AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"""Ankyrin repeat domain containing"""	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.2000T>G	6.37:g.90340539T>G	ENSP00000430985:p.Leu667Arg		90397260	NM_014942	B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Missense_Mutation	SNP	ENST00000522441.1	37	CCDS56441.1	.	.	.	.	.	.	.	.	.	.	T	19.97	3.925793	0.73213	.	.	ENSG00000135299	ENST00000369408;ENST00000339746;ENST00000447838;ENST00000522441;ENST00000520793	T;T;T;T;T	0.69685	1.08;1.07;1.06;1.07;-0.42	4.79	4.79	0.61399	.	0.423877	0.19512	N	0.112484	T	0.58524	0.2128	L	0.36672	1.1	0.80722	D	1	P;P;P;B	0.42123	0.771;0.542;0.676;0.405	B;B;P;B	0.49421	0.355;0.401;0.61;0.309	T	0.66006	-0.6030	10	0.87932	D	0	-0.7913	14.7839	0.69787	0.0:0.0:0.0:1.0	.	603;667;632;662	B3KUC3;Q9Y2G4;Q9Y2G4-1;C9JJE8	.;ANKR6_HUMAN;.;.	R	632;667;662;667;603	ENSP00000358416:L632R;ENSP00000345767:L667R;ENSP00000396771:L662R;ENSP00000430985:L667R;ENSP00000429782:L603R	ENSP00000345767:L667R	L	+	2	0	ANKRD6	90397260	1.000000	0.71417	0.970000	0.41538	0.888000	0.51559	6.775000	0.75018	2.138000	0.66242	0.460000	0.39030	CTT		0.552	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376594.1		
MDN1	23195	broad.mit.edu	37	6	90381933	90381933	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:90381933C>T	ENST00000369393.3	-	82	13895	c.13780G>A	c.(13780-13782)Gca>Aca	p.A4594T	MDN1_ENST00000468568.1_5'UTR|MDN1_ENST00000428876.1_Missense_Mutation_p.A4594T|RP1-122O8.7_ENST00000438877.1_RNA			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4594					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.A4594T(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGCTTTGCTGCTGTGCCATCC	0.483																																					p.A4594T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G13780A	6						.						123.0	110.0	114.0					6																	90381933		2203	4300	6503	90438654	SO:0001583	missense	23195	exon82			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.13780G>A	6.37:g.90381933C>T	ENSP00000358400:p.Ala4594Thr		90438654	NM_014611	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	8.481	0.859789	0.17178	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.31769	1.48;1.48	6.06	0.773	0.18516	.	0.394395	0.27000	N	0.021422	T	0.05181	0.0138	N	0.25890	0.77	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41840	-0.9486	10	0.13108	T	0.6	.	6.1283	0.20192	0.1269:0.4506:0.0:0.4225	.	4594	Q9NU22	MDN1_HUMAN	T	4594	ENSP00000358400:A4594T;ENSP00000413970:A4594T	ENSP00000358400:A4594T	A	-	1	0	MDN1	90438654	0.024000	0.19004	0.155000	0.22561	0.514000	0.34195	0.184000	0.16939	0.321000	0.23259	0.655000	0.94253	GCA		0.483	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
MDN1	23195	broad.mit.edu	37	6	90421900	90421900	+	Silent	SNP	T	T	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:90421900T>A	ENST00000369393.3	-	49	7621	c.7506A>T	c.(7504-7506)gcA>gcT	p.A2502A	MDN1_ENST00000428876.1_Silent_p.A2502A			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2502					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.A2502A(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCACTTCGACTGCATTGAATT	0.413																																					p.A2502A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A7506T	6						.						146.0	149.0	148.0					6																	90421900		2203	4300	6503	90478621	SO:0001819	synonymous_variant	23195	exon49			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.7506A>T	6.37:g.90421900T>A			90478621	NM_014611	O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	CCDS5024.1																																																																																				0.413	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
MDN1	23195	broad.mit.edu	37	6	90448084	90448084	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:90448084G>T	ENST00000369393.3	-	33	4799	c.4684C>A	c.(4684-4686)Ctt>Att	p.L1562I	MDN1_ENST00000428876.1_Missense_Mutation_p.L1562I			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1562					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.L1562I(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCTGGACGAAGATTATGACTG	0.433																																					p.L1562I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4684A	6						.						147.0	130.0	136.0					6																	90448084		2203	4300	6503	90504805	SO:0001583	missense	23195	exon33			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.4684C>A	6.37:g.90448084G>T	ENSP00000358400:p.Leu1562Ile		90504805	NM_014611	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157345	0.38119	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.50548	0.74;0.74	5.69	3.83	0.44106	.	0.141396	0.48767	D	0.000165	T	0.27967	0.0689	L	0.58810	1.83	0.42729	D	0.993704	B	0.21147	0.052	B	0.24848	0.056	T	0.31752	-0.9932	10	0.51188	T	0.08	.	7.0958	0.25309	0.0739:0.1323:0.6711:0.1228	.	1562	Q9NU22	MDN1_HUMAN	I	1562	ENSP00000358400:L1562I;ENSP00000413970:L1562I	ENSP00000358400:L1562I	L	-	1	0	MDN1	90504805	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	3.140000	0.50585	2.689000	0.91719	0.557000	0.71058	CTT		0.433	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
EPHA7	2045	broad.mit.edu	37	6	94128971	94128971	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:94128971G>A	ENST00000369303.4	-	1	273	c.89C>T	c.(88-90)gCg>gTg	p.A30V	EPHA7_ENST00000369297.1_Missense_Mutation_p.A30V	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	30					brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.A30V(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ACCTTCCTTCGCAGCCTGCGC	0.522																																					p.A30V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C89T	6						.						93.0	89.0	90.0					6																	94128971		2203	4300	6503	94185692	SO:0001583	missense	2045	exon1			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.89C>T	6.37:g.94128971G>A	ENSP00000358309:p.Ala30Val		94185692	NM_004440	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.875650	0.72180	.	.	ENSG00000135333	ENST00000369303;ENST00000369297	T;T	0.73469	-0.75;4.24	4.76	4.76	0.60689	.	0.088748	0.45606	D	0.000346	T	0.57666	0.2069	N	0.08118	0	0.48040	D	0.999574	D;P;P;P	0.56521	0.976;0.862;0.918;0.867	P;B;B;B	0.52309	0.695;0.174;0.284;0.103	T	0.70622	-0.4821	10	0.72032	D	0.01	.	15.9381	0.79734	0.0:0.0:1.0:0.0	.	30;30;30;30	Q15375-4;Q15375-3;Q15375-2;Q15375	.;.;.;EPHA7_HUMAN	V	30	ENSP00000358309:A30V;ENSP00000358303:A30V	ENSP00000358303:A30V	A	-	2	0	EPHA7	94185692	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.752000	0.62176	2.189000	0.69895	0.555000	0.69702	GCG		0.522	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1		
FUT9	10690	broad.mit.edu	37	6	96651481	96651481	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:96651481C>A	ENST00000302103.5	+	3	776	c.450C>A	c.(448-450)caC>caA	p.H150Q		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	150					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)	p.H150Q(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		GCATTGAGCACTTGTTTAACC	0.453																																					p.H150Q	Melanoma(98;1369 1476 6592 22940 26587)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C450A	6						.						79.0	73.0	75.0					6																	96651481		2203	4300	6503	96758202	SO:0001583	missense	10690	exon3			AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"""Fucosyltransferases"""	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.450C>A	6.37:g.96651481C>A	ENSP00000302599:p.His150Gln		96758202	NM_006581	Q5T0W4	Missense_Mutation	SNP	ENST00000302103.5	37	CCDS5033.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.276432	0.40294	.	.	ENSG00000172461	ENST00000302103	T	0.25085	1.82	5.3	1.55	0.23275	.	0.138505	0.64402	D	0.000005	T	0.16727	0.0402	M	0.64997	1.995	0.37441	D	0.914426	P	0.40515	0.719	P	0.45538	0.484	T	0.02358	-1.1171	10	0.42905	T	0.14	-14.7915	9.6944	0.40147	0.0:0.7171:0.0:0.2829	.	150	Q9Y231	FUT9_HUMAN	Q	150	ENSP00000302599:H150Q	ENSP00000302599:H150Q	H	+	3	2	FUT9	96758202	0.996000	0.38824	0.980000	0.43619	0.993000	0.82548	0.603000	0.24149	0.066000	0.16515	0.655000	0.94253	CAC		0.453	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041554.2	NM_006581	
UFL1	23376	broad.mit.edu	37	6	96976413	96976413	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:96976413A>G	ENST00000369278.4	+	6	567	c.501A>G	c.(499-501)ggA>ggG	p.G167G		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	167	Involved in CDK5RAP3-binding.|Required for E3 UFM1-protein ligase activity.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)	p.G167G(1)									TTATCAGTGGACATATTGATC	0.353																																					p.G167G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A501G	6						.						77.0	77.0	77.0					6																	96976413		2203	4300	6503	97083134	SO:0001819	synonymous_variant	23376	exon6			BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"""novel LZAP-binding protein"", ""Regulator of CDK5RAP3 and DDRGK1"""	613372	"""KIAA0776"""	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.501A>G	6.37:g.96976413A>G			97083134	NM_015323	A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Silent	SNP	ENST00000369278.4	37	CCDS5034.1																																																																																				0.353	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323	
UFL1	23376	broad.mit.edu	37	6	96986595	96986595	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:96986595T>C	ENST00000369278.4	+	10	1133	c.1067T>C	c.(1066-1068)gTa>gCa	p.V356A		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	356					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)	p.V356A(1)									GCCTCAACTGTAGTCTTTAGC	0.428																																					p.V356A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1067C	6						.						83.0	78.0	79.0					6																	96986595		2203	4300	6503	97093316	SO:0001583	missense	23376	exon10			BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"""novel LZAP-binding protein"", ""Regulator of CDK5RAP3 and DDRGK1"""	613372	"""KIAA0776"""	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.1067T>C	6.37:g.96986595T>C	ENSP00000358283:p.Val356Ala		97093316	NM_015323	A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Missense_Mutation	SNP	ENST00000369278.4	37	CCDS5034.1	.	.	.	.	.	.	.	.	.	.	T	7.647	0.682143	0.14907	.	.	ENSG00000014123	ENST00000369278	T	0.48522	0.81	5.83	3.39	0.38822	.	0.449783	0.23349	N	0.049151	T	0.09862	0.0242	N	0.12182	0.205	0.09310	N	0.999997	B	0.14805	0.011	B	0.13407	0.009	T	0.34153	-0.9840	10	0.17369	T	0.5	-6.2947	8.9382	0.35713	0.0:0.1328:0.0:0.8672	.	356	O94874	UFL1_HUMAN	A	356	ENSP00000358283:V356A	ENSP00000358283:V356A	V	+	2	0	KIAA0776	97093316	0.993000	0.37304	0.988000	0.46212	0.989000	0.77384	3.635000	0.54309	0.446000	0.26666	0.533000	0.62120	GTA		0.428	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323	
SLC16A10	117247	broad.mit.edu	37	6	111527826	111527826	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:111527826delA	ENST00000368851.5	+	4	1149	c.974delA	c.(973-975)gaafs	p.E325fs	SLC16A10_ENST00000368850.3_Frame_Shift_Del_p.E11fs	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	325					amino acid transport (GO:0006865)|aromatic amino acid transport (GO:0015801)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.N327fs*30(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	Droxidopa(DB06262)|Glycine(DB00145)|L-Alanine(DB00160)|L-Arginine(DB00125)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Cystine(DB00138)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Histidine(DB00117)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Lysine(DB00123)|L-Methionine(DB00134)|L-Phenylalanine(DB00120)|L-Proline(DB00172)|L-Serine(DB00133)|L-Threonine(DB00156)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|L-Valine(DB00161)|Liothyronine(DB00279)|Liotrix(DB01583)|Pyruvic acid(DB00119)	TTTCAAGATGAAAAAAATAAA	0.393																																					p.E325fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.974delA	6						.						136.0	133.0	134.0					6																	111527826		2203	4300	6503	111634519	SO:0001589	frameshift_variant	117247	exon4			AF116652	CCDS5089.1	6q21-q22	2014-01-28	2013-07-18		ENSG00000112394	ENSG00000112394		"""Solute carriers"""	17027	protein-coding gene	gene with protein product		607550	"""solute carrier family 16 (monocarboxylic acid transporters), member 10"""			11278508, 11827462	Standard	NM_018593		Approved	TAT1, MCT10	uc003pus.3	Q8TF71	OTTHUMG00000015371	ENST00000368851.5:c.974delA	6.37:g.111527826delA	ENSP00000357844:p.Glu325fs		111634519	NM_018593	B3KWY0|Q6ZMG0|Q8WVI5	Frame_Shift_Del	DEL	ENST00000368851.5	37	CCDS5089.1																																																																																				0.393	SLC16A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041822.2		
HDAC2	3066	broad.mit.edu	37	6	114277859	114277859	+	Splice_Site	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:114277859T>C	ENST00000519065.1	-	4	660		c.e4-2		HDAC2_ENST00000368632.2_Splice_Site|HDAC2_ENST00000519108.1_Splice_Site|HDAC2_ENST00000398283.2_Splice_Site			Q92769	HDAC2_HUMAN	histone deacetylase 2						ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.?(2)		biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	CAACATTAACTGTGGAAGATG	0.353																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	6						.						63.0	59.0	60.0					6																	114277859		1846	4097	5943	114384552	SO:0001630	splice_region_variant	3066	.			U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.284-2A>G	6.37:g.114277859T>C			114384552	.	B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	Splice_Site	SNP	ENST00000519065.1	37	CCDS43493.2	.	.	.	.	.	.	.	.	.	.	T	18.19	3.568364	0.65651	.	.	ENSG00000196591	ENST00000519065;ENST00000398283;ENST00000519108;ENST00000368632;ENST00000425835;ENST00000523628;ENST00000521610;ENST00000522371;ENST00000521163;ENST00000518690;ENST00000523240	.	.	.	3.96	3.96	0.45880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9025	0.63815	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	HDAC2	114384552	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.711000	0.84669	2.014000	0.59158	0.482000	0.46254	.		0.353	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2		Intron
PLG	5340	broad.mit.edu	37	6	161134036	161134036	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:161134036delC	ENST00000308192.9	+	5	489	c.426delC	c.(424-426)cacfs	p.H142fs	PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	142	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.S144fs*86(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CTGCTACACACCCCTCAGAGG	0.478																																					p.H142fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.426delC	6						.						105.0	106.0	106.0					6																	161134036		2203	4300	6503	161054026	SO:0001589	frameshift_variant	5340	exon5			M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.426delC	6.37:g.161134036delC	ENSP00000308938:p.His142fs		161054026	NM_000301	Q15146|Q5TEH4|Q6PA00	Frame_Shift_Del	DEL	ENST00000308192.9	37	CCDS5279.1																																																																																				0.478	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301	
QKI	9444	broad.mit.edu	37	6	163899920	163899920	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:163899920delA	ENST00000361752.3	+	3	945	c.394delA	c.(394-396)aaafs	p.K134fs	QKI_ENST00000453779.2_Frame_Shift_Del_p.K134fs|QKI_ENST00000424802.3_Frame_Shift_Del_p.K134fs|QKI_ENST00000361195.2_Frame_Shift_Del_p.K134fs|QKI_ENST00000392127.2_Frame_Shift_Del_p.K134fs|QKI_ENST00000275262.7_Frame_Shift_Del_p.K134fs	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	134	KH.				long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.K134fs*14(1)		central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		AATGAGGGATAAAAAAAAGGT	0.363																																					p.K132fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.394delA	6						.						79.0	80.0	80.0					6																	163899920		2203	4300	6503	163819910	SO:0001589	frameshift_variant	9444	exon3			AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"""quaking homolog, KH domain RNA binding (mouse)"""			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.394delA	6.37:g.163899920delA	ENSP00000355094:p.Lys134fs		163819910	NM_206855	Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Frame_Shift_Del	DEL	ENST00000361752.3	37	CCDS5285.1																																																																																				0.363	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2	NM_006775	
RNASET2	8635	broad.mit.edu	37	6	167344581	167344581	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr6:167344581G>A	ENST00000508775.1	-	8	1037	c.518C>T	c.(517-519)gCc>gTc	p.A173V	RP11-514O12.4_ENST00000507747.1_Intron|RNASET2_ENST00000366855.6_Missense_Mutation_p.A135V|RNASET2_ENST00000496851.2_5'Flank|RNASET2_ENST00000476238.2_Missense_Mutation_p.A173V	NM_003730.4	NP_003721.2	O00584	RNT2_HUMAN	ribonuclease T2	173					RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	ribonuclease activity (GO:0004540)|ribonuclease T2 activity (GO:0033897)|RNA binding (GO:0003723)	p.A173V(1)		large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		ATATACTCTGGCAAGGGCATC	0.383																																					p.A173V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C518T	6						.						165.0	161.0	162.0					6																	167344581		2203	4300	6503	167264571	SO:0001583	missense	8635	exon8			AJ419866	CCDS5295.1	6q27	2014-05-20			ENSG00000026297	ENSG00000026297			21686	protein-coding gene	gene with protein product		612944				9192857	Standard	NM_003730		Approved	RNASE6PL, FLJ10907, bA514O12.3	uc003qve.3	O00584	OTTHUMG00000016009	ENST00000508775.1:c.518C>T	6.37:g.167344581G>A	ENSP00000426455:p.Ala173Val		167264571	NM_003730	B2RDA7|E1P5C3|Q5T8Q0|Q8TCU2|Q9BZ46|Q9BZ47	Missense_Mutation	SNP	ENST00000508775.1	37	CCDS5295.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-2.006700	0.00426	.	.	ENSG00000026297	ENST00000366855;ENST00000508775;ENST00000428859;ENST00000476238;ENST00000478180	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	4.5	1.33	0.21861	.	0.806964	0.11726	N	0.535391	T	0.35998	0.0951	N	0.16743	0.435	0.09310	N	1	B;B	0.19331	0.035;0.005	B;B	0.18561	0.022;0.007	T	0.16100	-1.0414	10	0.27785	T	0.31	-6.638	3.797	0.08743	0.327:0.1862:0.4868:0.0	.	223;173	C9JIU8;O00584	.;RNT2_HUMAN	V	135;173;223;173;173	ENSP00000424947:A135V;ENSP00000426455:A173V;ENSP00000422846:A173V;ENSP00000426059:A173V	ENSP00000424947:A135V	A	-	2	0	RNASET2	167264571	0.004000	0.15560	0.004000	0.12327	0.022000	0.10575	0.957000	0.29215	0.840000	0.34995	0.563000	0.77884	GCC		0.383	RNASET2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043089.2	NM_003730	
EPHB4	2050	broad.mit.edu	37	7	100410498	100410498	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:100410498G>A	ENST00000358173.3	-	12	2457	c.1989C>T	c.(1987-1989)agC>agT	p.S663S	EPHB4_ENST00000360620.3_Silent_p.S663S|EPHB4_ENST00000477446.1_5'Flank	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	663	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.S663S(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGGAGGCCTCGCTCAGAAACT	0.617																																					p.S663S	GBM(200;2113 3072 25865 52728)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1989T	7						.						107.0	104.0	105.0					7																	100410498		2203	4300	6503	100248434	SO:0001819	synonymous_variant	2050	exon12			AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.1989C>T	7.37:g.100410498G>A			100248434	NM_004444	B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Silent	SNP	ENST00000358173.3	37	CCDS5706.1																																																																																				0.617	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444	
SLC12A9	56996	broad.mit.edu	37	7	100463346	100463346	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:100463346A>G	ENST00000354161.3	+	14	1989	c.1864A>G	c.(1864-1866)Atg>Gtg	p.M622V	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																																					p.M622V												.	.	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)	c.A1864G	7						.						87.0	79.0	82.0					7																	100463346		2203	4300	6503	100301282	SO:0001583	missense	56996	exon14			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>G	7.37:g.100463346A>G	ENSP00000275730:p.Met622Val		100301282	NM_020246	B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	ENST00000354161.3	37	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.816519	0.90790	.	.	ENSG00000146828	ENST00000354161;ENST00000539308	D	0.92199	-2.99	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.94128	0.8117	M	0.80616	2.505	0.80722	D	1	P	0.49559	0.925	P	0.51297	0.665	D	0.94726	0.7905	10	0.87932	D	0	.	13.4475	0.61148	1.0:0.0:0.0:0.0	.	622	Q9BXP2	S12A9_HUMAN	V	622;248	ENSP00000275730:M622V	ENSP00000275730:M622V	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	
MUC17	140453	broad.mit.edu	37	7	100682097	100682097	+	Missense_Mutation	SNP	C	C	T	rs138703892		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:100682097C>T	ENST00000306151.4	+	3	7464	c.7400C>T	c.(7399-7401)cCg>cTg	p.P2467L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2467	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.P2467L(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGCACCACGCCGGTGGTCAGT	0.527													N|||	1	0.000199681	0.0	0.0	5008	,	,		27678	0.001		0.0	False		,,,				2504	0.0				p.P2467L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7400T	7						.						325.0	322.0	323.0					7																	100682097		2203	4300	6503	100468817	SO:0001583	missense	140453	exon3			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.7400C>T	7.37:g.100682097C>T	ENSP00000302716:p.Pro2467Leu		100468817	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	N	2.249	-0.372040	0.05034	.	.	ENSG00000169876	ENST00000306151	T	0.03242	4.0	1.43	-2.86	0.05717	.	.	.	.	.	T	0.01905	0.0060	N	0.12746	0.255	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.45571	-0.9252	9	0.29301	T	0.29	.	3.6112	0.08061	0.233:0.5958:0.0:0.1711	.	2467	Q685J3	MUC17_HUMAN	L	2467	ENSP00000302716:P2467L	ENSP00000302716:P2467L	P	+	2	0	MUC17	100468817	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-8.286000	0.00022	-1.279000	0.02405	-1.368000	0.01194	CCG		0.527	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
MUC17	140453	broad.mit.edu	37	7	100683157	100683157	+	Silent	SNP	G	G	A	rs140072363	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:100683157G>A	ENST00000306151.4	+	3	8524	c.8460G>A	c.(8458-8460)acG>acA	p.T2820T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2820	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.T2820T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAACCACACGCCAGTGGCCA	0.493													g|||	3	0.000599042	0.0015	0.0	5008	,	,		26202	0.001		0.0	False		,,,				2504	0.0				p.T2820T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G8460A	7						.	G		4,4402	825.9+/-416.6	0,4,2199	239.0	246.0	244.0		8460	-1.5	0.0	7	dbSNP_134	244	1,8599	819.2+/-406.8	0,1,4299	no	coding-synonymous	MUC17	NM_001040105.1		0,5,6498	AA,AG,GG		0.0116,0.0908,0.0384		2820/4494	100683157	5,13001	2203	4300	6503	100469877	SO:0001819	synonymous_variant	140453	exon3			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8460G>A	7.37:g.100683157G>A			100469877	NM_001040105	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																				0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
TRIM56	81844	broad.mit.edu	37	7	100732689	100732689	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:100732689T>C	ENST00000306085.6	+	3	2393	c.2096T>C	c.(2095-2097)gTc>gCc	p.V699A		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	699					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V699A(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CTTCGAGAAGTCAACAAGGTG	0.597																																					p.V699A	Ovarian(89;1092 1379 22756 38989 39611)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2096C	7						.						80.0	84.0	83.0					7																	100732689		1942	4138	6080	100519409	SO:0001583	missense	81844	exon3			BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19028	protein-coding gene	gene with protein product			"""tripartite motif-containing 56"""				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.2096T>C	7.37:g.100732689T>C	ENSP00000305161:p.Val699Ala		100519409	NM_030961	Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Missense_Mutation	SNP	ENST00000306085.6	37	CCDS43625.1	.	.	.	.	.	.	.	.	.	.	T	10.91	1.484444	0.26598	.	.	ENSG00000169871	ENST00000306085	T	0.27890	1.64	4.01	4.01	0.46588	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	T	0.15998	0.0385	N	0.08118	0	0.27757	N	0.943962	B	0.26876	0.162	B	0.18871	0.023	T	0.07654	-1.0761	9	0.54805	T	0.06	.	9.6075	0.39643	0.0:0.0:0.0:1.0	.	699	Q9BRZ2	TRI56_HUMAN	A	699	ENSP00000305161:V699A	ENSP00000305161:V699A	V	+	2	0	TRIM56	100519409	1.000000	0.71417	0.936000	0.37596	0.947000	0.59692	1.721000	0.38032	2.050000	0.60909	0.533000	0.62120	GTC		0.597	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	NM_030961	
PLOD3	8985	broad.mit.edu	37	7	100859567	100859567	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:100859567T>G	ENST00000223127.3	-	4	777	c.379A>C	c.(379-381)Aag>Cag	p.K127Q	ZNHIT1_ENST00000305105.2_5'Flank	NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	127					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)	p.K127Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	ACGAACTTCTTCAGCAGCTCT	0.652																																					p.K127Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A379C	7						.						38.0	40.0	39.0					7																	100859567		2203	4300	6503	100646287	SO:0001583	missense	8985	exon4			AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"""lysyl hydroxlase 3"""	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.379A>C	7.37:g.100859567T>G	ENSP00000223127:p.Lys127Gln		100646287	NM_001084	B2R6W6|Q540C3	Missense_Mutation	SNP	ENST00000223127.3	37	CCDS5715.1	.	.	.	.	.	.	.	.	.	.	T	17.35	3.367515	0.61513	.	.	ENSG00000106397	ENST00000223127;ENST00000541462;ENST00000414785	T;T	0.26518	1.73;1.73	4.87	1.91	0.25777	.	0.598599	0.17558	N	0.169936	T	0.20129	0.0484	L	0.47716	1.5	0.27990	N	0.935693	P	0.40376	0.715	B	0.40199	0.322	T	0.09930	-1.0652	10	0.51188	T	0.08	0.245	4.306	0.10947	0.3465:0.0:0.1565:0.497	.	127	O60568	PLOD3_HUMAN	Q	127;31;131	ENSP00000223127:K127Q;ENSP00000407551:K131Q	ENSP00000223127:K127Q	K	-	1	0	PLOD3	100646287	0.026000	0.19158	1.000000	0.80357	0.987000	0.75469	0.045000	0.14013	0.771000	0.33359	0.402000	0.26972	AAG		0.652	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1		
MYL10	93408	broad.mit.edu	37	7	101267508	101267508	+	Missense_Mutation	SNP	C	C	T	rs150960189		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:101267508C>T	ENST00000223167.4	-	2	292	c.115G>A	c.(115-117)Gcc>Acc	p.A39T		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	39						mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)	p.A39T(1)		breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						TTGGAGCTGGCGGTGCCTTCT	0.582																																					p.A39T	Esophageal Squamous(24;575 709 17516 40384 51639)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G115A	7						.						128.0	125.0	126.0					7																	101267508		2203	4300	6503	101054228	SO:0001583	missense	93408	exon2			BC002778	CCDS34713.1	7q22.1	2013-01-10			ENSG00000106436	ENSG00000106436		"""Myosins / Light chain"", ""EF-hand domain containing"""	29825	protein-coding gene	gene with protein product						1628631	Standard	NM_138403		Approved	MGC3479, MYLC2PL, PLRLC	uc003uyr.3	Q9BUA6	OTTHUMG00000157137	ENST00000223167.4:c.115G>A	7.37:g.101267508C>T	ENSP00000223167:p.Ala39Thr		101054228	NM_138403		Missense_Mutation	SNP	ENST00000223167.4	37	CCDS34713.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.250956	0.80135	.	.	ENSG00000106436	ENST00000223167	T	0.75154	-0.91	4.85	4.85	0.62838	.	0.079487	0.48286	D	0.000192	T	0.76723	0.4027	L	0.43646	1.37	0.45056	D	0.998073	D	0.61697	0.99	P	0.53518	0.728	T	0.78937	-0.2007	10	0.56958	D	0.05	.	15.8241	0.78683	0.0:1.0:0.0:0.0	.	39	Q9BUA6	MYL10_HUMAN	T	39	ENSP00000223167:A39T	ENSP00000223167:A39T	A	-	1	0	MYL10	101054228	0.985000	0.35326	0.992000	0.48379	0.296000	0.27459	3.454000	0.52986	2.409000	0.81822	0.655000	0.94253	GCC		0.582	MYL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347575.1	NM_138403	
ARMC10	83787	broad.mit.edu	37	7	102738907	102738907	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:102738907T>C	ENST00000323716.3	+	7	1331	c.939T>C	c.(937-939)caT>caC	p.H313H	ARMC10_ENST00000441711.2_Silent_p.H278H|ARMC10_ENST00000428183.2_Silent_p.H254H|ARMC10_ENST00000454559.1_Silent_p.H219H|ARMC10_ENST00000425331.1_Silent_p.H254H|ARMC10_ENST00000541300.1_Silent_p.H195H	NM_031905.4	NP_114111.2	Q8N2F6	ARM10_HUMAN	armadillo repeat containing 10	313					regulation of growth (GO:0040008)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.H313H(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	11						TCCTGTTACATGGAGAAGAAT	0.378																																					p.H219H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T657C	7						.						62.0	57.0	58.0					7																	102738907		2202	4280	6482	102526143	SO:0001819	synonymous_variant	83787	exon5			AY150853	CCDS5728.1, CCDS55145.1, CCDS55146.1, CCDS55147.1, CCDS55148.1, CCDS55149.1	7q22.1	2013-02-14			ENSG00000170632	ENSG00000170632		"""Armadillo repeat containing"""	21706	protein-coding gene	gene with protein product	"""specific Splicing Variant involved in Hepatocarcinogenesis"""	611864				12839973	Standard	NM_031905		Approved	MGC3195, SVH	uc003vaw.2	Q8N2F6	OTTHUMG00000157201	ENST00000323716.3:c.939T>C	7.37:g.102738907T>C			102526143	NM_001161012	A8K703|B4DWJ8|F5GX65|Q75K91|Q75MG6|Q75ML8|Q8IZC1|Q8IZC2|Q8IZC3|Q9BTM6	Silent	SNP	ENST00000323716.3	37	CCDS5728.1																																																																																				0.378	ARMC10-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347882.1	NM_031905	
RELN	5649	broad.mit.edu	37	7	103191670	103191670	+	Missense_Mutation	SNP	G	G	A	rs374232523		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:103191670G>A	ENST00000428762.1	-	41	6305	c.6146C>T	c.(6145-6147)gCg>gTg	p.A2049V	RELN_ENST00000424685.2_Missense_Mutation_p.A2049V|RELN_ENST00000343529.5_Missense_Mutation_p.A2049V	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2049					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.A2049V(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTGCCAGGTCGCCCCGAAGTC	0.547													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15683	0.0		0.0	False		,,,				2504	0.0				p.A2049V	NSCLC(146;835 1944 15585 22231 52158)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6146T	7						.	G	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	70.0	56.0	61.0		6146,6146	5.7	1.0	7		61	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RELN	NM_005045.3,NM_173054.2	64,64	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	2049/3461,2049/3459	103191670	2,13004	2203	4300	6503	102978906	SO:0001583	missense	5649	exon41				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.6146C>T	7.37:g.103191670G>A	ENSP00000392423:p.Ala2049Val		102978906	NM_005045	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.791303	0.90367	2.27E-4	1.16E-4	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.23348	1.91;1.91;1.91	5.7	5.7	0.88788	Neuraminidase (1);	0.000000	0.85682	D	0.000000	T	0.36496	0.0969	N	0.20401	0.57	0.80722	D	1	P;D	0.76494	0.946;0.999	B;P	0.61874	0.2;0.895	T	0.15065	-1.0450	10	0.54805	T	0.06	.	19.8383	0.96670	0.0:0.0:1.0:0.0	.	2049;2049	P78509-2;P78509	.;RELN_HUMAN	V	2049	ENSP00000392423:A2049V;ENSP00000345694:A2049V;ENSP00000388446:A2049V	ENSP00000345694:A2049V	A	-	2	0	RELN	102978906	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	9.081000	0.94049	2.683000	0.91414	0.650000	0.86243	GCG		0.547	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
RELN	5649	broad.mit.edu	37	7	103194110	103194110	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:103194110G>A	ENST00000428762.1	-	39	6125	c.5966C>T	c.(5965-5967)gCa>gTa	p.A1989V	RELN_ENST00000424685.2_Missense_Mutation_p.A1989V|RELN_ENST00000343529.5_Missense_Mutation_p.A1989V	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1989					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.A1989V(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TACTTACGGTGCCCCCTTTGA	0.373																																					p.A1989V	NSCLC(146;835 1944 15585 22231 52158)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5966T	7						.						94.0	87.0	89.0					7																	103194110		2203	4300	6503	102981346	SO:0001583	missense	5649	exon39				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.5966C>T	7.37:g.103194110G>A	ENSP00000392423:p.Ala1989Val		102981346	NM_005045	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278783	0.59758	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.22336	1.96;1.96;1.96	5.77	5.77	0.91146	Neuraminidase (1);	0.210998	0.43579	D	0.000557	T	0.18341	0.0440	L	0.34521	1.04	0.42674	D	0.993522	B;B	0.34103	0.137;0.437	B;B	0.19148	0.02;0.024	T	0.02966	-1.1088	10	0.72032	D	0.01	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	1989;1989	P78509-2;P78509	.;RELN_HUMAN	V	1989	ENSP00000392423:A1989V;ENSP00000345694:A1989V;ENSP00000388446:A1989V	ENSP00000345694:A1989V	A	-	2	0	RELN	102981346	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.504000	0.66968	2.885000	0.99019	0.655000	0.94253	GCA		0.373	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
KMT2E	55904	broad.mit.edu	37	7	104752486	104752486	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:104752486T>C	ENST00000311117.3	+	27	4828	c.4283T>C	c.(4282-4284)cTt>cCt	p.L1428P	KMT2E_ENST00000257745.4_Missense_Mutation_p.L1428P|KMT2E_ENST00000334877.4_Missense_Mutation_p.L1386P|KMT2E_ENST00000334914.7_Missense_Mutation_p.L483P|SRPK2_ENST00000493638.1_Intron	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1428					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.L1428P(1)									TCTGAGCAACTTTCACAAAAG	0.438																																					p.L1428P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4283C	7						.						136.0	129.0	131.0					7																	104752486		2203	4300	6503	104539722	SO:0001583	missense	55904	exon27			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.4283T>C	7.37:g.104752486T>C	ENSP00000312379:p.Leu1428Pro		104539722	NM_182931	B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546957	0.45383	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000334914	D;D;D;T	0.93133	-3.17;-2.96;-3.17;0.57	5.22	2.76	0.32466	.	0.136959	0.33457	N	0.004882	D	0.85292	0.5663	L	0.27053	0.805	0.80722	D	1	B;B	0.19073	0.033;0.001	B;B	0.19946	0.027;0.002	T	0.73522	-0.3956	10	0.30078	T	0.28	.	4.3134	0.10981	0.1467:0.1586:0.0:0.6947	.	1348;1428	F8W6H1;Q8IZD2	.;MLL5_HUMAN	P	1428;1428;1386;1348;1428;483	ENSP00000312379:L1428P;ENSP00000335599:L1386P;ENSP00000257745:L1428P;ENSP00000333986:L483P	ENSP00000257745:L1428P	L	+	2	0	MLL5	104539722	0.961000	0.32948	0.847000	0.33407	0.983000	0.72400	0.873000	0.28052	0.277000	0.22141	0.528000	0.53228	CTT		0.438	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1		
SRPK2	6733	broad.mit.edu	37	7	104807853	104807853	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:104807853T>C	ENST00000393651.3	-	6	572	c.485A>G	c.(484-486)gAc>gGc	p.D162G	SRPK2_ENST00000357311.3_Missense_Mutation_p.D151G|SRPK2_ENST00000489828.1_Missense_Mutation_p.D151G	NM_182692.1	NP_872634.1			SRSF protein kinase 2									p.D151G(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						AATCTTGAAGTCGTCAATGAG	0.363																																					p.D151G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A452G	7						.						174.0	142.0	153.0					7																	104807853		2203	4300	6503	104595089	SO:0001583	missense	6733	exon5			U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.485A>G	7.37:g.104807853T>C	ENSP00000377262:p.Asp162Gly		104595089	NM_182691		Missense_Mutation	SNP	ENST00000393651.3	37	CCDS34724.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.360536	0.82353	.	.	ENSG00000135250	ENST00000393651;ENST00000357311;ENST00000489828;ENST00000482897;ENST00000460391	T;T;T;T;T	0.19806	2.2;2.2;2.2;2.2;2.12	5.62	4.46	0.54185	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.13415	0.0325	N	0.15975	0.35	0.80722	D	1	B;B	0.12013	0.005;0.001	B;B	0.08055	0.003;0.003	T	0.04029	-1.0983	10	0.66056	D	0.02	-22.5079	11.6309	0.51173	0.0:0.0696:0.0:0.9304	.	162;151	P78362-2;P78362	.;SRPK2_HUMAN	G	162;151;151;199;151	ENSP00000377262:D162G;ENSP00000349863:D151G;ENSP00000419791:D151G;ENSP00000419240:D199G;ENSP00000417357:D151G	ENSP00000349863:D151G	D	-	2	0	SRPK2	104595089	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.941000	0.87700	0.960000	0.38005	0.460000	0.39030	GAC		0.363	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348723.1	NM_182691	
PHF14	9678	broad.mit.edu	37	7	11022763	11022763	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:11022763C>A	ENST00000403050.3	+	3	1329	c.877C>A	c.(877-879)Cta>Ata	p.L293I	PHF14_ENST00000445996.2_Intron	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	293					lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.L293I(1)		NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TAGCCTGACCCTATCTCAAAG	0.413																																					p.L293I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C877A	7						.						61.0	61.0	61.0					7																	11022763		1987	4156	6143	10989288	SO:0001583	missense	9678	exon3			AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"""Zinc fingers, PHD-type"""	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000403050.3:c.877C>A	7.37:g.11022763C>A	ENSP00000385795:p.Leu293Ile		10989288	NM_014660	A7MCZ3|B4DI82	Missense_Mutation	SNP	ENST00000403050.3	37	CCDS47542.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.586518	0.28268	.	.	ENSG00000106443	ENST00000403050	T	0.35421	1.31	4.74	3.87	0.44632	.	0.224693	0.38548	N	0.001652	T	0.38904	0.1058	N	0.19112	0.55	0.80722	D	1	P;B	0.52842	0.956;0.316	P;B	0.62184	0.899;0.045	T	0.09207	-1.0685	10	0.22706	T	0.39	.	13.0326	0.58851	0.0:0.9217:0.0:0.0783	.	293;293	A8MSQ1;O94880	.;PHF14_HUMAN	I	293	ENSP00000385795:L293I	ENSP00000385795:L293I	L	+	1	2	PHF14	10989288	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.718000	0.47236	1.211000	0.43351	-0.140000	0.14226	CTA		0.413	PHF14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318212.1	NM_014660	
PHF14	9678	broad.mit.edu	37	7	11053482	11053482	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:11053482G>A	ENST00000403050.3	+	5	1606	c.1154G>A	c.(1153-1155)tGt>tAt	p.C385Y	PHF14_ENST00000445996.2_Missense_Mutation_p.C100Y	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	385					lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.C385Y(1)		NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TCTCCTAGCTGTGAACTGTGT	0.398																																					p.C385Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1154A	7						.						192.0	178.0	182.0					7																	11053482		1912	4121	6033	11020007	SO:0001583	missense	9678	exon5			AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"""Zinc fingers, PHD-type"""	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000403050.3:c.1154G>A	7.37:g.11053482G>A	ENSP00000385795:p.Cys385Tyr		11020007	NM_014660	A7MCZ3|B4DI82	Missense_Mutation	SNP	ENST00000403050.3	37	CCDS47542.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621286	0.87460	.	.	ENSG00000106443	ENST00000403050;ENST00000445996	T;T	0.53206	0.63;0.63	5.06	5.06	0.68205	Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.79028	0.4377	H	0.95402	3.665	0.80722	D	1	D;D;D;D	0.89917	0.988;0.991;0.997;1.0	D;D;D;D	0.97110	0.983;0.99;0.996;1.0	D	0.85632	0.1271	10	0.87932	D	0	.	18.6116	0.91286	0.0:0.0:1.0:0.0	.	100;100;385;385	O94880-2;B4DG57;A8MSQ1;O94880	.;.;.;PHF14_HUMAN	Y	385;100	ENSP00000385795:C385Y;ENSP00000403907:C100Y	ENSP00000385795:C385Y	C	+	2	0	PHF14	11020007	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.551000	0.98112	2.622000	0.88805	0.650000	0.86243	TGT		0.398	PHF14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318212.1	NM_014660	
SRPK2	6733	broad.mit.edu	37	7	104844172	104844172	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:104844172T>C	ENST00000393651.3	-	3	219	c.132A>G	c.(130-132)ccA>ccG	p.P44P	SRPK2_ENST00000357311.3_Silent_p.P33P|SRPK2_ENST00000489828.1_Silent_p.P33P	NM_182692.1	NP_872634.1			SRSF protein kinase 2									p.P33P(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						AAggtggcggtggtggtggtg	0.557																																					p.P33P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A99G	7						.						47.0	42.0	43.0					7																	104844172		2203	4300	6503	104631408	SO:0001819	synonymous_variant	6733	exon2			U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.132A>G	7.37:g.104844172T>C			104631408	NM_182691		Silent	SNP	ENST00000393651.3	37	CCDS34724.1																																																																																				0.557	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348723.1	NM_182691	
LRRN3	54674	broad.mit.edu	37	7	110764156	110764156	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:110764156A>T	ENST00000422987.3	+	2	2159	c.1328A>T	c.(1327-1329)cAc>cTc	p.H443L	IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.H443L|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.H443L	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	443	Ig-like C2-type.				positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.H443L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		GTTTCCTTTCACTGTAGAGCT	0.428																																					p.H443L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1328T	7						.						127.0	134.0	132.0					7																	110764156		2203	4300	6503	110551392	SO:0001583	missense	54674	exon2			AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.1328A>T	7.37:g.110764156A>T	ENSP00000412417:p.His443Leu		110551392	NM_018334	O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.759599	0.49468	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987	T;T;T	0.66280	-0.2;-0.2;-0.2	6.16	5.0	0.66597	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000004	T	0.57080	0.2029	L	0.55834	1.745	0.80722	D	1	B	0.15473	0.013	B	0.20184	0.028	T	0.51228	-0.8732	10	0.27785	T	0.31	.	12.8815	0.58020	0.8779:0.0:0.0:0.122	.	443	Q9H3W5	LRRN3_HUMAN	L	443	ENSP00000312001:H443L;ENSP00000397312:H443L;ENSP00000412417:H443L	ENSP00000312001:H443L	H	+	2	0	LRRN3	110551392	1.000000	0.71417	0.997000	0.53966	0.755000	0.42902	7.306000	0.78905	1.126000	0.42016	-0.344000	0.07964	CAC		0.428	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334	
LRRN3	54674	broad.mit.edu	37	7	110764282	110764282	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:110764282G>A	ENST00000422987.3	+	2	2285	c.1454G>A	c.(1453-1455)gGc>gAc	p.G485D	IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.G485D|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.G485D	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	485	Ig-like C2-type.				positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G485D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		GATATAAATGGCGTAACTCCC	0.408																																					p.G485D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1454A	7						.						65.0	66.0	66.0					7																	110764282		2203	4300	6503	110551518	SO:0001583	missense	54674	exon2			AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.1454G>A	7.37:g.110764282G>A	ENSP00000412417:p.Gly485Asp		110551518	NM_018334	O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	G	0.065	-1.213978	0.01555	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987	D;D;D	0.95756	-3.8;-3.8;-3.8	6.17	2.87	0.33458	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.288788	0.29838	N	0.011080	D	0.86397	0.5923	N	0.16130	0.375	0.33532	D	0.593755	B	0.09022	0.002	B	0.08055	0.003	T	0.78625	-0.2131	10	0.13853	T	0.58	.	4.4441	0.11588	0.3186:0.1783:0.5031:0.0	.	485	Q9H3W5	LRRN3_HUMAN	D	485	ENSP00000312001:G485D;ENSP00000397312:G485D;ENSP00000412417:G485D	ENSP00000312001:G485D	G	+	2	0	LRRN3	110551518	0.999000	0.42202	0.999000	0.59377	0.871000	0.50021	3.168000	0.50801	0.870000	0.35726	0.655000	0.94253	GGC		0.408	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334	
TMEM168	64418	broad.mit.edu	37	7	112412926	112412926	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:112412926C>T	ENST00000312814.6	-	4	2016	c.1456G>A	c.(1456-1458)Gaa>Aaa	p.E486K	TMEM168_ENST00000454074.1_Missense_Mutation_p.E486K|TMEM168_ENST00000480969.1_5'Flank	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	486						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)		p.E486K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						GTCCGAAGTTCGAGGAAAGCT	0.423																																					p.E486K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1456A	7						.						123.0	106.0	112.0					7																	112412926		2203	4300	6503	112200162	SO:0001583	missense	64418	exon4				CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.1456G>A	7.37:g.112412926C>T	ENSP00000323068:p.Glu486Lys		112200162	NM_022484	A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	ENST00000312814.6	37	CCDS5757.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673672	0.88445	.	.	ENSG00000146802	ENST00000312814;ENST00000454074;ENST00000447395;ENST00000449743	.	.	.	5.92	5.92	0.95590	.	0.041945	0.85682	D	0.000000	T	0.57125	0.2032	L	0.50333	1.59	0.80722	D	1	D	0.56521	0.976	B	0.42214	0.38	T	0.60362	-0.7278	9	0.51188	T	0.08	-18.2427	20.3206	0.98668	0.0:1.0:0.0:0.0	.	486	Q9H0V1	TM168_HUMAN	K	486;486;102;102	.	ENSP00000323068:E486K	E	-	1	0	TMEM168	112200162	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.809000	0.96659	0.655000	0.94253	GAA		0.423	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484	
FOXP2	93986	broad.mit.edu	37	7	114329845	114329845	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:114329845T>A	ENST00000393494.2	+	17	2291	c.2012T>A	c.(2011-2013)aTc>aAc	p.I671N	FOXP2_ENST00000403559.4_Missense_Mutation_p.I688N|FOXP2_ENST00000350908.4_Missense_Mutation_p.I671N|FOXP2_ENST00000393498.2_Missense_Mutation_p.I650N|FOXP2_ENST00000393491.3_Missense_Mutation_p.I486N|FOXP2_ENST00000393489.3_Missense_Mutation_p.I579N|FOXP2_ENST00000408937.3_Missense_Mutation_p.I696N			O15409	FOXP2_HUMAN	forkhead box P2	671					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I696N(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						AGACATTCAATCCACGTCAAG	0.413																																					p.I671N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2012A	7						.						99.0	84.0	89.0					7																	114329845		2203	4300	6503	114117081	SO:0001583	missense	93986	exon17			U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.2012T>A	7.37:g.114329845T>A	ENSP00000377132:p.Ile671Asn		114117081	NM_014491	A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	T	13.90	2.374217	0.42105	.	.	ENSG00000128573	ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000393491	D;D;D;D;D;D	0.91792	-2.61;-2.6;-2.63;-2.61;-2.7;-2.91	5.96	5.96	0.96718	.	0.093080	0.64402	D	0.000001	D	0.93226	0.7842	L	0.32530	0.975	0.80722	D	1	P;P;D;P;D	0.69078	0.94;0.94;0.997;0.94;0.965	P;P;D;P;P	0.63957	0.462;0.462;0.92;0.462;0.748	D	0.94155	0.7409	10	0.87932	D	0	.	16.4447	0.83919	0.0:0.0:0.0:1.0	.	670;688;486;671;696	B7ZLK5;B4DLD9;Q0PRL4;O15409;O15409-4	.;.;.;FOXP2_HUMAN;.	N	671;696;688;671;648;579;486	ENSP00000377132:I671N;ENSP00000386200:I696N;ENSP00000385069:I688N;ENSP00000265436:I671N;ENSP00000377129:I579N;ENSP00000377130:I486N	ENSP00000265436:I671N	I	+	2	0	FOXP2	114117081	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.698000	0.84413	2.284000	0.76573	0.528000	0.53228	ATC		0.413	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491	
MDFIC	29969	broad.mit.edu	37	7	114655904	114655904	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:114655904A>T	ENST00000393486.1	+	5	1246	c.656A>T	c.(655-657)gAc>gTc	p.D219V	MDFIC_ENST00000257724.3_Missense_Mutation_p.D328V	NM_001166345.1|NM_199072.4	NP_001159817.1|NP_951038.1			MyoD family inhibitor domain containing											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						TGTGATATGGACTGTGGCATC	0.458																																					p.D328V												.	.	0			c.A983T	7						.						308.0	273.0	285.0					7																	114655904		2203	4300	6503	114443140	SO:0001583	missense	29969	exon5			AF054589	CCDS34737.1, CCDS55155.1	7q31.1-q31.2	2006-01-11			ENSG00000135272	ENSG00000135272			28870	protein-coding gene	gene with protein product		614511				10671520	Standard	NM_199072		Approved	HIC	uc003vhf.3	Q9P1T7	OTTHUMG00000023647	ENST00000393486.1:c.656A>T	7.37:g.114655904A>T	ENSP00000377126:p.Asp219Val		114443140	NM_199072		Missense_Mutation	SNP	ENST00000393486.1	37	CCDS55155.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.777435	0.90195	.	.	ENSG00000135272	ENST00000257724;ENST00000393486	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.81079	0.4748	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84066	0.0377	9	0.87932	D	0	-5.262	16.0957	0.81123	1.0:0.0:0.0:0.0	.	219	Q9P1T7	MDFIC_HUMAN	V	328;219	.	ENSP00000257724:D328V	D	+	2	0	MDFIC	114443140	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	8.962000	0.93254	2.199000	0.70637	0.533000	0.62120	GAC		0.458	MDFIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059968.4	NM_199072	
CTTNBP2	83992	broad.mit.edu	37	7	117375392	117375392	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:117375392C>T	ENST00000160373.3	-	15	3710	c.3619G>A	c.(3619-3621)Gag>Aag	p.E1207K		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1207					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)		p.E1207K(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CTCAATAACTCCGACAGTGAA	0.383																																					p.E1207K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3619A	7						.						58.0	64.0	62.0					7																	117375392		2203	4300	6503	117162628	SO:0001583	missense	83992	exon15				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.3619G>A	7.37:g.117375392C>T	ENSP00000160373:p.Glu1207Lys		117162628	NM_033427	O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.9|21.9	4.218725|4.218725	0.79464|0.79464	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000160373|ENST00000446636	T|.	0.55930|.	0.49|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.327722|.	0.37304|.	N|.	0.002141|.	D|D	0.83440|0.83440	0.5255|0.5255	M|M	0.85630|0.85630	2.765|2.765	0.47819|0.47819	D|D	0.99952|0.99952	D|.	0.76494|.	0.999|.	D|.	0.79784|.	0.993|.	D|D	0.84417|0.84417	0.0569|0.0569	10|5	0.48119|.	T|.	0.1|.	-9.0624|-9.0624	19.8125|19.8125	0.96553|0.96553	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1207|.	Q8WZ74|.	CTTB2_HUMAN|.	K|E	1207|694	ENSP00000160373:E1207K|.	ENSP00000160373:E1207K|.	E|G	-|-	1|2	0|0	CTTNBP2|CTTNBP2	117162628|117162628	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	3.752000|3.752000	0.55172|0.55172	2.745000|2.745000	0.94114|0.94114	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.383	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427	
CTTNBP2	83992	broad.mit.edu	37	7	117432266	117432266	+	Silent	SNP	T	T	A	rs139751531		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:117432266T>A	ENST00000160373.3	-	4	1075	c.984A>T	c.(982-984)gtA>gtT	p.V328V	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	328					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)		p.V328V(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TGGAAGGTTTTACAGGCATGG	0.502																																					p.V328V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A984T	7						.	T		0,4406		0,0,2203	164.0	163.0	163.0		984	-1.2	0.1	7	dbSNP_134	163	1,8599		0,1,4299	no	coding-synonymous	CTTNBP2	NM_033427.2		0,1,6502	AA,AT,TT		0.0116,0.0,0.0077		328/1664	117432266	1,13005	2203	4300	6503	117219502	SO:0001819	synonymous_variant	83992	exon4				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.984A>T	7.37:g.117432266T>A			117219502	NM_033427	O43389|Q7LG11|Q9C0A5	Silent	SNP	ENST00000160373.3	37	CCDS5774.1																																																																																				0.502	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427	
PTPRZ1	5803	broad.mit.edu	37	7	121623863	121623863	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:121623863T>C	ENST00000393386.2	+	7	1175	c.764T>C	c.(763-765)aTc>aCc	p.I255T	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.I255T	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	255	Alpha-carbonic anhydrase.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.I255T(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACAGTTAGCATCTCTGAAAGC	0.323																																					p.I255T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T764C	7						.						119.0	113.0	115.0					7																	121623863		2203	4300	6503	121411099	SO:0001583	missense	5803	exon7			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.764T>C	7.37:g.121623863T>C	ENSP00000377047:p.Ile255Thr		121411099	NM_002851	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	T	18.06	3.539808	0.65085	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.70631	-0.5;-0.5	5.62	5.62	0.85841	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	D	0.88905	0.6564	H	0.95504	3.68	0.33610	D	0.603453	D;D	0.89917	0.997;1.0	D;D	0.97110	0.997;1.0	D	0.94601	0.7796	10	0.87932	D	0	.	16.1043	0.81209	0.0:0.0:0.0:1.0	.	255;255	C9JFM0;P23471	.;PTPRZ_HUMAN	T	255	ENSP00000377047:I255T;ENSP00000410000:I255T	ENSP00000377047:I255T	I	+	2	0	PTPRZ1	121411099	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	5.709000	0.68384	2.269000	0.75478	0.443000	0.29094	ATC		0.323	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851	
GPR37	2861	broad.mit.edu	37	7	124404511	124404511	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:124404511G>A	ENST00000303921.2	-	1	1170	c.520C>T	c.(520-522)Ccc>Tcc	p.P174S		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	174					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)	p.P174S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTGGCTCCGGGGACTGTCTTC	0.612																																					p.P174S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C520T	7						.						56.0	66.0	62.0					7																	124404511		2203	4300	6503	124191747	SO:0001583	missense	2861	exon1				CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.520C>T	7.37:g.124404511G>A	ENSP00000306449:p.Pro174Ser		124191747	NM_005302	A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	G	5.412	0.261122	0.10239	.	.	ENSG00000170775	ENST00000303921	T	0.07216	3.21	4.9	3.05	0.35203	.	0.109604	0.41823	D	0.000819	T	0.06371	0.0164	L	0.27053	0.805	0.09310	N	1	B	0.24186	0.099	B	0.25405	0.06	T	0.30446	-0.9978	10	0.51188	T	0.08	-13.253	8.2698	0.31838	0.0:0.1713:0.6509:0.1778	.	174	O15354	GPR37_HUMAN	S	174	ENSP00000306449:P174S	ENSP00000306449:P174S	P	-	1	0	GPR37	124191747	0.002000	0.14202	0.009000	0.14445	0.067000	0.16453	0.149000	0.16243	0.750000	0.32877	0.655000	0.94253	CCC		0.612	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302	
POT1	25913	broad.mit.edu	37	7	124532409	124532409	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:124532409G>A	ENST00000357628.3	-	6	633	c.35C>T	c.(34-36)aCa>aTa	p.T12I	POT1_ENST00000393329.1_5'UTR	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	12					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)	p.T12I(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						ATTCAGGGGTGTATATATATA	0.328																																					p.T12I	Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C35T	7						.						108.0	119.0	116.0					7																	124532409		2203	4299	6502	124319645	SO:0001583	missense	25913	exon6			AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"""protection of telomeres 1 homolog (S. pombe)"""			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.35C>T	7.37:g.124532409G>A	ENSP00000350249:p.Thr12Ile		124319645	NM_015450	O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP	ENST00000357628.3	37	CCDS5793.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218722	0.79464	.	.	ENSG00000128513	ENST00000357628;ENST00000451720;ENST00000440969;ENST00000393326;ENST00000265391;ENST00000446993	T	0.50813	0.73	5.7	5.7	0.88788	Nucleic acid-binding, OB-fold-like (1);Telomere end binding protein (2);Nucleic acid-binding, OB-fold (1);	0.176803	0.49916	D	0.000125	T	0.70422	0.3222	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71669	-0.4523	10	0.54805	T	0.06	-12.9609	17.3235	0.87241	0.0:0.0:1.0:0.0	.	12	Q9NUX5	POTE1_HUMAN	I	12;12;12;12;11;12	ENSP00000350249:T12I	ENSP00000265391:T11I	T	-	2	0	POT1	124319645	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.270000	0.72563	2.697000	0.92050	0.557000	0.71058	ACA		0.328	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1		
GRM8	2918	broad.mit.edu	37	7	126173647	126173647	+	Missense_Mutation	SNP	C	C	T	rs140162343		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:126173647C>T	ENST00000339582.2	-	9	2597	c.1789G>A	c.(1789-1791)Gcc>Acc	p.A597T	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.A597T|GRM8_ENST00000444921.2_Missense_Mutation_p.A597T			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	597					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.A597T(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				AAGGTGGTGGCGATGATTCCC	0.507										HNSCC(24;0.065)																											p.A597T												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G1789A	7						.	C	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	135.0	118.0	124.0		1789,1789	5.7	1.0	7	dbSNP_134	124	0,8600		0,0,4300	no	missense,missense	GRM8	NM_000845.2,NM_001127323.1	58,58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	597/909,597/909	126173647	1,13005	2203	4300	6503	125960883	SO:0001583	missense	2918	exon9				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1789G>A	7.37:g.126173647C>T	ENSP00000344173:p.Ala597Thr		125960883	NM_001127323	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830977	0.91036	2.27E-4	0.0	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.89123	-2.47;-2.47;-2.47	5.73	5.73	0.89815	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.93530	0.7935	L	0.60067	1.865	0.80722	D	1	D;D	0.89917	1.0;0.991	D;P	0.83275	0.996;0.782	D	0.93178	0.6572	10	0.54805	T	0.06	.	18.8976	0.92430	0.0:1.0:0.0:0.0	.	597;597	O00222-2;O00222	.;GRM8_HUMAN	T	597	ENSP00000344173:A597T;ENSP00000409790:A597T;ENSP00000351142:A597T	ENSP00000344173:A597T	A	-	1	0	GRM8	125960883	1.000000	0.71417	0.970000	0.41538	0.981000	0.71138	6.083000	0.71326	2.723000	0.93209	0.643000	0.83706	GCC		0.507	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4		
GCC1	79571	broad.mit.edu	37	7	127222667	127222667	+	Missense_Mutation	SNP	G	G	T	rs549907133		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:127222667G>T	ENST00000321407.2	-	2	2153	c.1729C>A	c.(1729-1731)Cgc>Agc	p.R577S	GCC1_ENST00000497650.1_5'Flank	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	577					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.R577S(1)		breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTCAGTGTGCGGTCCCTGAAG	0.632																																					p.R577S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1729A	7						.						40.0	40.0	40.0					7																	127222667		2203	4300	6503	127009903	SO:0001583	missense	79571	exon2			AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.1729C>A	7.37:g.127222667G>T	ENSP00000318821:p.Arg577Ser		127009903	NM_024523	Q9H6N7	Missense_Mutation	SNP	ENST00000321407.2	37	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.931253	0.34096	.	.	ENSG00000179562	ENST00000321407	T	0.12984	2.63	5.24	4.31	0.51392	.	0.343164	0.31648	N	0.007291	T	0.12433	0.0302	L	0.52573	1.65	0.36646	D	0.877101	B	0.27594	0.182	B	0.19946	0.027	T	0.09422	-1.0675	10	0.23891	T	0.37	-12.0259	11.6965	0.51546	0.0:0.0:0.7317:0.2683	.	577	Q96CN9	GCC1_HUMAN	S	577	ENSP00000318821:R577S	ENSP00000318821:R577S	R	-	1	0	GCC1	127009903	0.971000	0.33674	1.000000	0.80357	0.997000	0.91878	0.933000	0.28897	2.589000	0.87451	0.655000	0.94253	CGC		0.632	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523	
LEP	3952	broad.mit.edu	37	7	127892093	127892093	+	Missense_Mutation	SNP	G	G	A	rs200092598		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:127892093G>A	ENST00000308868.4	+	2	73	c.22G>A	c.(22-24)Gga>Aga	p.G8R		NM_000230.2	NP_000221.1	P41159	LEP_HUMAN	leptin	8					adipose tissue development (GO:0060612)|adult feeding behavior (GO:0008343)|bile acid metabolic process (GO:0008206)|bone mineralization involved in bone maturation (GO:0035630)|cellular response to L-ascorbic acid (GO:0071298)|cellular response to retinoic acid (GO:0071300)|central nervous system neuron development (GO:0021954)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|eating behavior (GO:0042755)|energy reserve metabolic process (GO:0006112)|fatty acid beta-oxidation (GO:0006635)|female pregnancy (GO:0007565)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process (GO:0006114)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|leptin-mediated signaling pathway (GO:0033210)|leukocyte tethering or rolling (GO:0050901)|negative regulation of apoptotic process (GO:0043066)|negative regulation of appetite (GO:0032099)|negative regulation of cartilage development (GO:0061037)|negative regulation of glucagon secretion (GO:0070093)|negative regulation of glutamine transport (GO:2000486)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vasoconstriction (GO:0045906)|ovulation from ovarian follicle (GO:0001542)|placenta development (GO:0001890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of developmental growth (GO:0048639)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of ion transport (GO:0043270)|positive regulation of luteinizing hormone secretion (GO:0033686)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of blood pressure (GO:0008217)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis (GO:0006111)|regulation of insulin secretion (GO:0050796)|regulation of intestinal cholesterol absorption (GO:0030300)|regulation of lipoprotein lipid oxidation (GO:0060587)|regulation of steroid biosynthetic process (GO:0050810)|response to dietary excess (GO:0002021)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to vitamin E (GO:0033197)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.G8R(1)		endometrium(1)|large_intestine(2)|lung(5)	8						AACCCTGTGCGGATTCTTGTG	0.488																																					p.G8R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G22A	7						.						263.0	230.0	241.0					7																	127892093		2203	4300	6503	127679329	SO:0001583	missense	3952	exon2				CCDS5800.1	7q31	2008-03-06	2008-03-06		ENSG00000174697	ENSG00000174697			6553	protein-coding gene	gene with protein product		164160	"""leptin (murine obesity homolog)"", ""leptin (obesity homolog, mouse)"""	OBS, OB		1686014, 16932309	Standard	NM_000230		Approved		uc003vml.2	P41159	OTTHUMG00000157564	ENST00000308868.4:c.22G>A	7.37:g.127892093G>A	ENSP00000312652:p.Gly8Arg		127679329	NM_000230	O15158|Q56A88	Missense_Mutation	SNP	ENST00000308868.4	37	CCDS5800.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.441392	0.00180	.	.	ENSG00000174697	ENST00000308868	T	0.69685	-0.42	4.96	1.79	0.24919	.	1.724340	0.03182	N	0.172202	T	0.29061	0.0722	N	0.00368	-1.59	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.01281	0.0;0.0	T	0.49670	-0.8915	10	0.02654	T	1	-7.1965	7.8929	0.29688	0.1586:0.4034:0.4381:0.0	.	8;8	A4D0Y8;P41159	.;LEP_HUMAN	R	8	ENSP00000312652:G8R	ENSP00000312652:G8R	G	+	1	0	LEP	127679329	0.001000	0.12720	0.034000	0.17996	0.006000	0.05464	0.289000	0.18957	1.092000	0.41356	-0.147000	0.13772	GGA		0.488	LEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349174.1		
FLNC	2318	broad.mit.edu	37	7	128489427	128489427	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:128489427T>C	ENST00000325888.8	+	30	5255	c.4994T>C	c.(4993-4995)gTg>gCg	p.V1665A	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.V1665A	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1665					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.V1665A(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CAGGAGACGGTGATCACGGTG	0.632																																					p.V1665A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4994C	7						.						66.0	74.0	71.0					7																	128489427		2145	4251	6396	128276663	SO:0001583	missense	2318	exon30			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.4994T>C	7.37:g.128489427T>C	ENSP00000327145:p.Val1665Ala		128276663	NM_001458	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	T	15.15	2.749046	0.49257	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.84730	-1.89;-1.89	5.65	4.49	0.54785	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.88243	0.6384	L	0.58810	1.83	0.47123	D	0.999328	D;B	0.71674	0.998;0.202	D;B	0.81914	0.995;0.215	D	0.84352	0.0533	10	0.17369	T	0.5	.	8.7874	0.34830	0.1202:0.0:0.1407:0.739	.	1665;1665	Q14315-2;Q14315	.;FLNC_HUMAN	A	1665	ENSP00000327145:V1665A;ENSP00000344002:V1665A	ENSP00000327145:V1665A	V	+	2	0	FLNC	128276663	1.000000	0.71417	0.979000	0.43373	0.972000	0.66771	2.898000	0.48672	0.948000	0.37687	0.533000	0.62120	GTG		0.632	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3		
FLNC	2318	broad.mit.edu	37	7	128492945	128492945	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:128492945A>G	ENST00000325888.8	+	37	6329	c.6068A>G	c.(6067-6069)cAt>cGt	p.H2023R	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.H1990R	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2023					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.H2023R(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGTGGCAAGCATGTCACCAAC	0.622																																					p.H2023R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A6068G	7						.						61.0	69.0	66.0					7																	128492945		2077	4208	6285	128280181	SO:0001583	missense	2318	exon37			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.6068A>G	7.37:g.128492945A>G	ENSP00000327145:p.His2023Arg		128280181	NM_001458	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.707139	0.89018	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	T;T	0.49432	0.78;0.78	5.46	5.46	0.80206	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74397	0.3711	M	0.90309	3.105	0.58432	D	0.999997	D;D	0.65815	0.982;0.995	D;D	0.79784	0.993;0.973	T	0.80765	-0.1236	10	0.87932	D	0	.	15.5486	0.76129	1.0:0.0:0.0:0.0	.	1990;2023	Q14315-2;Q14315	.;FLNC_HUMAN	R	2023;1990	ENSP00000327145:H2023R;ENSP00000344002:H1990R	ENSP00000327145:H2023R	H	+	2	0	FLNC	128280181	1.000000	0.71417	0.963000	0.40424	0.990000	0.78478	9.305000	0.96197	2.081000	0.62600	0.533000	0.62120	CAT		0.622	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3		
STRIP2	57464	broad.mit.edu	37	7	129122858	129122858	+	Missense_Mutation	SNP	G	G	A	rs372192438		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:129122858G>A	ENST00000249344.2	+	20	2265	c.2225G>A	c.(2224-2226)cGc>cAc	p.R742H	RNU1-72P_ENST00000362976.1_RNA|STRIP2_ENST00000435494.2_Missense_Mutation_p.R742H	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	742					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)		p.R742H(2)									GTGCGTCACCGCATGAACGAT	0.448																																					p.R742H												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G2225A	7						.	G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	81.0	70.0	74.0		2225,2225	5.3	1.0	7		74	0,8600		0,0,4300	no	missense,missense	FAM40B	NM_001134336.1,NM_020704.2	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	742/759,742/835	129122858	1,13005	2203	4300	6503	128910094	SO:0001583	missense	57464	exon20			AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.2225G>A	7.37:g.129122858G>A	ENSP00000249344:p.Arg742His		128910094	NM_020704	Q8WUZ4	Missense_Mutation	SNP	ENST00000249344.2	37	CCDS34752.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.729324	0.89390	2.27E-4	0.0	ENSG00000128578	ENST00000249344;ENST00000435494	T;T	0.49432	0.78;0.79	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.67841	0.2936	M	0.66378	2.025	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.85130	0.997;0.887	T	0.65899	-0.6056	10	0.41790	T	0.15	-17.8589	18.3428	0.90311	0.0:0.0:1.0:0.0	.	742;742	Q9ULQ0;Q9ULQ0-2	FA40B_HUMAN;.	H	742	ENSP00000249344:R742H;ENSP00000392393:R742H	ENSP00000249344:R742H	R	+	2	0	FAM40B	128910094	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.797000	0.99108	2.662000	0.90505	0.655000	0.94253	CGC		0.448	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336	
PLXNA4	91584	broad.mit.edu	37	7	132192390	132192390	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:132192390G>T	ENST00000359827.3	-	2	2025	c.1063C>A	c.(1063-1065)Ctg>Atg	p.L355M	PLXNA4_ENST00000423507.2_Missense_Mutation_p.L355M|PLXNA4_ENST00000378539.5_Missense_Mutation_p.L355M|PLXNA4_ENST00000321063.4_Missense_Mutation_p.L355M			Q9HCM2	PLXA4_HUMAN	plexin A4	355	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.L355M(3)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AAGATGCACAGGGCCGACTCA	0.562																																					p.L355M												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C1063A	7						.						74.0	70.0	71.0					7																	132192390		2203	4300	6503	131842930	SO:0001583	missense	91584	exon3			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1063C>A	7.37:g.132192390G>T	ENSP00000352882:p.Leu355Met		131842930	NM_181775	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744495	0.49151	.	.	ENSG00000221866	ENST00000321063;ENST00000359827;ENST00000423507;ENST00000378539	T;T;T;T	0.11821	2.74;2.74;2.74;2.74	5.96	1.14	0.20703	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.49305	U	0.000153	T	0.28928	0.0718	M	0.62723	1.935	0.51767	D	0.99993	D;D;D	0.71674	0.997;0.985;0.998	D;D;D	0.74023	0.968;0.982;0.944	T	0.00514	-1.1695	10	0.56958	D	0.05	.	9.5797	0.39479	0.3925:0.0:0.6074:0.0	.	355;355;355	Q9HCM2-2;A4D1N6;Q9HCM2	.;.;PLXA4_HUMAN	M	355	ENSP00000323194:L355M;ENSP00000352882:L355M;ENSP00000392772:L355M;ENSP00000367800:L355M	ENSP00000323194:L355M	L	-	1	2	PLXNA4	131842930	1.000000	0.71417	0.992000	0.48379	0.964000	0.63967	2.565000	0.45939	-0.063000	0.13065	0.655000	0.94253	CTG		0.562	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775	
AKR1B1	231	broad.mit.edu	37	7	134133770	134133770	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:134133770C>T	ENST00000285930.4	-	5	610	c.531G>A	c.(529-531)aaG>aaA	p.K177K	AKR1B1_ENST00000489022.1_5'Flank	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	177					C21-steroid hormone biosynthetic process (GO:0006700)|carbohydrate metabolic process (GO:0005975)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)|glyceraldehyde oxidoreductase activity (GO:0043795)	p.K177K(1)		kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					Sulindac(DB00605)	CAGGCTTATACTTCAAGCCAG	0.483																																					p.K177K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G531A	7						.						215.0	198.0	204.0					7																	134133770		2203	4300	6503	133784310	SO:0001819	synonymous_variant	231	exon5			J04795	CCDS5831.1	7q35	2010-04-08			ENSG00000085662	ENSG00000085662	1.1.1.21	"""Aldo-keto reductases"""	381	protein-coding gene	gene with protein product		103880		ALDR1		1901827	Standard	NM_001628		Approved	AR	uc003vrp.1	P15121	OTTHUMG00000155322	ENST00000285930.4:c.531G>A	7.37:g.134133770C>T			133784310	NM_001628	B2R8N3|Q5U031|Q6FGA4|Q6ICP2|Q9BS21|Q9UCI9	Silent	SNP	ENST00000285930.4	37	CCDS5831.1																																																																																				0.483	AKR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339448.2	NM_001628	
WDR91	29062	broad.mit.edu	37	7	134871020	134871020	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:134871020G>A	ENST00000354475.4	-	15	2158	c.2127C>T	c.(2125-2127)ggC>ggT	p.G709G	WDR91_ENST00000344400.5_3'UTR|WDR91_ENST00000423565.1_Silent_p.G674G	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	709								p.G709G(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						GGGCTCGGTGGCCACCTAGGC	0.597																																					p.G709G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2127T	7						.						77.0	63.0	68.0					7																	134871020		2203	4300	6503	134521560	SO:0001819	synonymous_variant	29062	exon15			AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"""WD repeat domain containing"""	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.2127C>T	7.37:g.134871020G>A			134521560	NM_014149	A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Silent	SNP	ENST00000354475.4	37	CCDS34758.1																																																																																				0.597	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340019.1	NM_014149	
CNOT4	4850	broad.mit.edu	37	7	135099952	135099952	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:135099952A>G	ENST00000315544.5	-	4	711	c.432T>C	c.(430-432)aaT>aaC	p.N144N	CNOT4_ENST00000541284.1_Silent_p.N144N|CNOT4_ENST00000451834.1_Silent_p.N144N|CNOT4_ENST00000414802.1_Silent_p.N144N|CNOT4_ENST00000361528.4_Silent_p.N144N|CNOT4_ENST00000428680.2_Silent_p.N144N|CNOT4_ENST00000423368.2_Silent_p.N144N|CNOT4_ENST00000356162.4_Silent_p.N144N	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	144	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.N144N(2)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						ATGTGCTATTATTGATGACAA	0.363																																					p.N144N	Ovarian(51;766 1130 5502 35047 50875)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T432C	7						.						224.0	221.0	222.0					7																	135099952		1841	4092	5933	134750492	SO:0001819	synonymous_variant	4850	exon4			AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.432T>C	7.37:g.135099952A>G			134750492	NM_001190850	B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Silent	SNP	ENST00000315544.5	37	CCDS55166.1																																																																																				0.363	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316	
CHRM2	1129	broad.mit.edu	37	7	136700019	136700019	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:136700019C>T	ENST00000445907.2	+	3	935	c.407C>T	c.(406-408)aCc>aTc	p.T136I	CHRM2_ENST00000320658.5_Missense_Mutation_p.T136I|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.T136I|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.T136I|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.T136I|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.T136I	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	136					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)	p.T136I(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GTCAAGCGGACCACAAAAATG	0.493																																					p.T136I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C407T	7						.						88.0	86.0	86.0					7																	136700019		2203	4300	6503	136350559	SO:0001583	missense	1129	exon4				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.407C>T	7.37:g.136700019C>T	ENSP00000399745:p.Thr136Ile		136350559	NM_000739	Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.064229	0.76187	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	5.61	5.61	0.85477	GPCR, rhodopsin-like superfamily (1);	0.048600	0.85682	D	0.000000	T	0.74543	0.3730	M	0.92970	3.365	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.80761	-0.1238	10	0.87932	D	0	-4.0587	19.7047	0.96068	0.0:1.0:0.0:0.0	.	136	P08172	ACM2_HUMAN	I	136	ENSP00000399745:T136I;ENSP00000415386:T136I;ENSP00000319984:T136I;ENSP00000380733:T136I;ENSP00000384937:T136I;ENSP00000384401:T136I	ENSP00000319984:T136I	T	+	2	0	CHRM2	136350559	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.981000	0.70524	2.655000	0.90218	0.650000	0.86243	ACC		0.493	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1		
ETV1	2115	broad.mit.edu	37	7	13940427	13940427	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:13940427G>A	ENST00000430479.1	-	13	1815	c.1148C>T	c.(1147-1149)gCt>gTt	p.A383V	ETV1_ENST00000399357.3_Missense_Mutation_p.A280V|ETV1_ENST00000420159.2_Missense_Mutation_p.A325V|ETV1_ENST00000405218.2_Missense_Mutation_p.A383V|ETV1_ENST00000242066.5_Missense_Mutation_p.A365V|ETV1_ENST00000343495.5_Missense_Mutation_p.A365V|ETV1_ENST00000405192.2_Missense_Mutation_p.A360V|ETV1_ENST00000403527.1_Missense_Mutation_p.A343V|ETV1_ENST00000405358.4_Missense_Mutation_p.A397V|ETV1_ENST00000403685.1_Missense_Mutation_p.A365V	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	383					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A383V(1)	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						ATAGTTCATAGCTGGCCTGTT	0.373			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																p.A360V			Dom	yes		7	7p22	2115	ets variant gene 1		"""M, E"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1079T	7						.						87.0	77.0	80.0					7																	13940427		1865	4114	5979	13906952	SO:0001583	missense	2115	exon11				CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.1148C>T	7.37:g.13940427G>A	ENSP00000405327:p.Ala383Val		13906952	NM_001163147	A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	ENST00000430479.1	37	CCDS55088.1	.	.	.	.	.	.	.	.	.	.	G	35	5.507104	0.96386	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000399357;ENST00000405192;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685	T;T;T;T;T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51	5.84	4.95	0.65309	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (5);	0.048798	0.85682	D	0.000000	T	0.68467	0.3004	L	0.52126	1.63	0.80722	D	1	D;D;D;P;D;D;D	0.89917	1.0;1.0;0.969;0.933;0.999;0.999;0.999	D;D;P;P;D;D;D	0.97110	0.999;1.0;0.735;0.517;0.999;0.992;0.979	T	0.72272	-0.4342	10	0.87932	D	0	.	17.0889	0.86617	0.0:0.1268:0.8732:0.0	.	371;365;397;325;280;343;383	Q59GA7;P50549-2;B5MCT2;F5GXR2;B7Z9P2;E9PHB1;P50549	.;.;.;.;.;.;ETV1_HUMAN	V	383;365;365;325;280;360;397;343;383;365	ENSP00000405327:A383V;ENSP00000242066:A365V;ENSP00000340853:A365V;ENSP00000411626:A325V;ENSP00000382293:A280V;ENSP00000385381:A360V;ENSP00000384085:A397V;ENSP00000384138:A343V;ENSP00000385551:A383V;ENSP00000385686:A365V	ENSP00000242066:A365V	A	-	2	0	ETV1	13906952	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.864000	0.99589	1.461000	0.47929	0.644000	0.83932	GCT		0.373	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956	
SVOPL	136306	broad.mit.edu	37	7	138281213	138281213	+	Silent	SNP	G	G	A	rs150828068	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:138281213G>A	ENST00000419765.3	-	14	1449	c.1416C>T	c.(1414-1416)tgC>tgT	p.C472C	SVOPL_ENST00000463557.1_5'UTR|SVOPL_ENST00000288513.5_Silent_p.C320C|SVOPL_ENST00000436657.1_Silent_p.C320C|SVOPL_ENST00000421622.1_Silent_p.C352C	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	472						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)	p.C472C(1)|p.C320C(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CAGAAATGGCGCATACAACAC	0.473													G|||	3	0.000599042	0.0	0.0	5008	,	,		16046	0.0		0.003	False		,,,				2504	0.0				p.C320C												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C960T	7						.	G	,	1,4405	2.1+/-5.4	0,1,2202	116.0	110.0	112.0		1416,960	-2.3	0.9	7	dbSNP_134	112	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous,coding-synonymous	SVOPL	NM_001139456.1,NM_174959.2	,	0,7,6496	AA,AG,GG		0.0698,0.0227,0.0538	,	472/493,320/341	138281213	7,12999	2203	4300	6503	137931753	SO:0001819	synonymous_variant	136306	exon11			BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"""SV2 related protein homolog (rat)-like"""				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.1416C>T	7.37:g.138281213G>A			137931753	NM_174959		Silent	SNP	ENST00000419765.3	37	CCDS47721.1																																																																																				0.473	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4	NM_174959	
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												p.V600E	Colon(40;35 892 2973 5743 27438)		Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	BRAF,pituitary,NS,Substitution - Missense,0 	.	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	c.T1799A	7						.						112.0	104.0	107.0					7																	140453136		2203	4300	6503	140099605	SO:0001583	missense	673	exon15	Familial Cancer Database	CFC, CFCS	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		140099605	NM_004333	A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333	
BRAF	673	broad.mit.edu	37	7	140507858	140507858	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:140507858T>G	ENST00000288602.6	-	5	673	c.613A>C	c.(613-615)Aag>Cag	p.K205Q		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	205	RBD. {ECO:0000255|PROSITE- ProRule:PRU00262}.				activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.K205Q(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	ATTGGTTTCTTCTCTCTGAAA	0.378		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												p.K205Q	Colon(40;35 892 2973 5743 27438)		Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A613C	7						.						138.0	119.0	126.0					7																	140507858		2203	4300	6503	140154327	SO:0001583	missense	673	exon5	Familial Cancer Database	CFC, CFCS	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.613A>C	7.37:g.140507858T>G	ENSP00000288602:p.Lys205Gln		140154327	NM_004333	A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	CCDS5863.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.308319	0.81247	.	.	ENSG00000157764	ENST00000288602	T	0.76448	-1.02	5.58	5.58	0.84498	Raf-like Ras-binding (3);	0.000000	0.85682	D	0.000000	T	0.81460	0.4827	L	0.46614	1.455	0.80722	D	1	P	0.52692	0.955	P	0.54759	0.76	D	0.83465	0.0056	10	0.72032	D	0.01	.	15.7412	0.77899	0.0:0.0:0.0:1.0	.	205	P15056	BRAF_HUMAN	Q	205	ENSP00000288602:K205Q	ENSP00000288602:K205Q	K	-	1	0	BRAF	140154327	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.040000	0.89188	2.114000	0.64651	0.383000	0.25322	AAG		0.378	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333	
AGK	55750	broad.mit.edu	37	7	141315325	141315325	+	Missense_Mutation	SNP	T	T	G	rs375210929		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:141315325T>G	ENST00000355413.4	+	8	738	c.478T>G	c.(478-480)Ttg>Gtg	p.L160V	AGK_ENST00000535825.1_Missense_Mutation_p.L157V|AGK_ENST00000473247.1_Missense_Mutation_p.L132V	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	160	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.L160V(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					GACCAGTAGTTTGAGTCATAC	0.433																																					p.L160V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T478G	7						.						181.0	181.0	181.0					7																	141315325		2203	4300	6503	140961794	SO:0001583	missense	55750	exon8			BC022777	CCDS5865.1	7q34	2010-05-04	2007-01-11	2007-01-11	ENSG00000006530	ENSG00000006530	2.7.1.94		21869	protein-coding gene	gene with protein product		610345	"""multiple substrate lipid kinase"""	MULK		15252046, 15939762, 17135245	Standard	NM_018238		Approved	FLJ10842	uc003vwi.2	Q53H12	OTTHUMG00000157499	ENST00000355413.4:c.478T>G	7.37:g.141315325T>G	ENSP00000347581:p.Leu160Val		140961794	NM_018238	Q75KN1|Q96GC3|Q9NP48	Missense_Mutation	SNP	ENST00000355413.4	37	CCDS5865.1	.	.	.	.	.	.	.	.	.	.	T	18.23	3.578669	0.65878	.	.	ENSG00000006530	ENST00000355413;ENST00000473247;ENST00000535825	T;T;T	0.26660	1.72;1.72;1.72	5.2	1.61	0.23674	ATP-NAD kinase, PpnK-type, alpha/beta (1);Diacylglycerol kinase, catalytic domain (3);	0.000000	0.64402	D	0.000001	T	0.29491	0.0735	L	0.41961	1.31	0.43598	D	0.995957	P	0.38223	0.623	P	0.51016	0.656	T	0.03008	-1.1083	10	0.30854	T	0.27	.	7.4762	0.27378	0.0:0.3455:0.0:0.6545	.	160	Q53H12	AGK_HUMAN	V	160;132;157	ENSP00000347581:L160V;ENSP00000420776:L132V;ENSP00000444349:L157V	ENSP00000347581:L160V	L	+	1	2	AGK	140961794	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	1.151000	0.31651	0.409000	0.25649	0.482000	0.46254	TTG		0.433	AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348969.1	NM_018238	
PRSS37	136242	broad.mit.edu	37	7	141536296	141536296	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:141536296G>T	ENST00000350549.3	-	5	978	c.607C>A	c.(607-609)Cag>Aag	p.Q203K	PRSS37_ENST00000438520.1_Missense_Mutation_p.Q203K	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	203	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				binding of sperm to zona pellucida (GO:0007339)|cell migration (GO:0016477)|protein maturation (GO:0051604)	extracellular region (GO:0005576)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)	p.Q203K(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						TCGATTCCCTGGAGCTTGTCT	0.498																																					p.Q202K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C604A	7						.						152.0	127.0	135.0					7																	141536296		2203	4300	6503	141182765	SO:0001583	missense	136242	exon5				CCDS34764.1	7q34	2010-05-07			ENSG00000165076	ENSG00000165076		"""Serine peptidases / Serine peptidases"""	29211	protein-coding gene	gene with protein product							Standard	NM_001008270		Approved		uc003vws.2	A4D1T9	OTTHUMG00000157174	ENST00000350549.3:c.607C>A	7.37:g.141536296G>T	ENSP00000297767:p.Gln203Lys		141182765	NM_001171951	B2RPB5	Missense_Mutation	SNP	ENST00000350549.3	37	CCDS34764.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784299	0.90282	.	.	ENSG00000165076	ENST00000350549;ENST00000438520	D;D	0.89196	-2.48;-2.48	5.28	5.28	0.74379	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.53938	D	0.000056	D	0.93716	0.7992	M	0.82056	2.57	0.44067	D	0.996811	P;P	0.47604	0.898;0.898	P;P	0.59221	0.854;0.854	D	0.93819	0.7117	10	0.59425	D	0.04	.	16.4526	0.83997	0.0:0.0:1.0:0.0	.	202;203	B7ZMK3;A4D1T9	.;PRS37_HUMAN	K	203	ENSP00000297767:Q203K;ENSP00000414461:Q203K	ENSP00000297767:Q203K	Q	-	1	0	PRSS37	141182765	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	7.384000	0.79751	2.761000	0.94854	0.585000	0.79938	CAG		0.498	PRSS37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347763.1	NM_001008270	
MGAM	8972	broad.mit.edu	37	7	141730205	141730205	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:141730205A>G	ENST00000549489.2	+	11	1360	c.1265A>G	c.(1264-1266)gAc>gGc	p.D422G	MGAM_ENST00000475668.2_Missense_Mutation_p.D422G	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	422	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.D422G(2)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAGAGAAGGGACTTCACTTAT	0.368																																					p.D422G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1265G	7						.						120.0	104.0	109.0					7																	141730205		1852	4095	5947	141376674	SO:0001583	missense	8972	exon11			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.1265A>G	7.37:g.141730205A>G	ENSP00000447378:p.Asp422Gly		141376674	NM_004668	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.396159	0.83011	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.95001	-3.58	5.07	5.07	0.68467	Glycoside hydrolase, superfamily (1);	0.101087	0.43579	D	0.000543	D	0.97932	0.9320	H	0.95151	3.63	0.43617	D	0.995999	D	0.89917	1.0	D	0.87578	0.998	D	0.98844	1.0756	10	0.87932	D	0	.	12.8306	0.57744	1.0:0.0:0.0:0.0	.	422	O43451	MGA_HUMAN	G	422;422;299	ENSP00000447378:D422G	ENSP00000316431:D299G	D	+	2	0	MGAM	141376674	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.527000	0.73803	2.126000	0.65437	0.460000	0.39030	GAC		0.368	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3		
TRPV5	56302	broad.mit.edu	37	7	142609794	142609794	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:142609794C>T	ENST00000265310.1	-	13	1990	c.1642G>A	c.(1642-1644)Gac>Aac	p.D548N		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	548					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.D548N(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					AAGTCCACGTCGTAGTTGGCA	0.507																																					p.D548N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1642A	7						.						212.0	176.0	188.0					7																	142609794		2203	4300	6503	142319916	SO:0001583	missense	56302	exon13			AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1642G>A	7.37:g.142609794C>T	ENSP00000265310:p.Asp548Asn		142319916	NM_019841	A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	C	8.344	0.829282	0.16749	.	.	ENSG00000127412	ENST00000265310;ENST00000439304	D;D	0.84944	-1.92;-1.92	5.79	1.79	0.24919	Ion transport (1);	0.817388	0.11428	N	0.565063	T	0.77294	0.4109	L	0.46157	1.445	0.30349	N	0.784939	B	0.22604	0.072	B	0.21917	0.037	T	0.61922	-0.6963	10	0.07990	T	0.79	-15.2579	9.551	0.39310	0.0:0.749:0.0:0.251	.	548	Q9NQA5	TRPV5_HUMAN	N	548;493	ENSP00000265310:D548N;ENSP00000406361:D493N	ENSP00000265310:D548N	D	-	1	0	TRPV5	142319916	0.001000	0.12720	0.061000	0.19648	0.153000	0.21895	0.773000	0.26661	0.101000	0.17610	-0.137000	0.14449	GAC		0.507	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841	
TRPV5	56302	broad.mit.edu	37	7	142626581	142626581	+	Silent	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:142626581G>T	ENST00000265310.1	-	4	777	c.429C>A	c.(427-429)gtC>gtA	p.V143V	TRPV5_ENST00000442623.1_Silent_p.V143V	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	143					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.V143V(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CTCTGGCAGAGACACTGGCCC	0.602																																					p.V143V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C429A	7						.						87.0	77.0	80.0					7																	142626581		2203	4300	6503	142336703	SO:0001819	synonymous_variant	56302	exon4			AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.429C>A	7.37:g.142626581G>T			142336703	NM_019841	A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Silent	SNP	ENST00000265310.1	37	CCDS5875.1																																																																																				0.602	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841	
PIP	5304	broad.mit.edu	37	7	142832314	142832314	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:142832314C>T	ENST00000291009.3	+	2	163	c.123C>T	c.(121-123)gaC>gaT	p.D41D		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	41					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of gene expression (GO:0010628)|proteolysis (GO:0006508)|regulation of immune system process (GO:0002682)|retina homeostasis (GO:0001895)	apical plasma membrane (GO:0016324)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	actin binding (GO:0003779)|aspartic-type endopeptidase activity (GO:0004190)|glycoprotein binding (GO:0001948)|IgG binding (GO:0019864)|protein dimerization activity (GO:0046983)	p.D41D(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		AGAATTTTGACATTCCCAAGT	0.453																																					p.D41D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C123T	7						.						65.0	58.0	60.0					7																	142832314		2203	4299	6502	142542436	SO:0001819	synonymous_variant	5304	exon2				CCDS34768.1	7q34	2013-09-19			ENSG00000159763	ENSG00000159763			8993	protein-coding gene	gene with protein product	"""prolactin-inducible protein"""	176720				2727805, 1955075	Standard	NM_002652		Approved	GCDFP-15, GCDFP15, GPIP4	uc003wcf.1	P12273	OTTHUMG00000152635	ENST00000291009.3:c.123C>T	7.37:g.142832314C>T			142542436	NM_002652	A0A963|A0A9C3|A0A9F3|A4D2I1	Silent	SNP	ENST00000291009.3	37	CCDS34768.1																																																																																				0.453	PIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327089.1	NM_002652	
CASP2	835	broad.mit.edu	37	7	142991387	142991387	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:142991387T>C	ENST00000310447.5	+	5	781	c.540T>C	c.(538-540)acT>acC	p.T180T	CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	180					aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|ectopic germ cell programmed cell death (GO:0035234)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|luteolysis (GO:0001554)|neural retina development (GO:0003407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron apoptotic process (GO:0043525)|protein processing (GO:0016485)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)	p.T180T(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					AGCCTTGCACTCCTGAATTTT	0.418																																					p.S108P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T322C	7						.						149.0	148.0	149.0					7																	142991387		2203	4300	6503	142701509	SO:0001819	synonymous_variant	835	exon4			AK096245, BC002427, BM998653, BX537669, CB988674, U13021	CCDS5879.1, CCDS47733.1	7q34-q35	2014-01-20	2008-08-01		ENSG00000106144	ENSG00000106144		"""Caspases"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1503	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 57"""	600639	"""neural precursor cell expressed, developmentally down-regulated 2"""	NEDD2		7789948, 8780721	Standard	NM_032982		Approved	ICH1, PPP1R57, MGC2181	uc003wco.3	P42575	OTTHUMG00000023641	ENST00000310447.5:c.540T>C	7.37:g.142991387T>C			142701509	NM_032983	A8K5F9|D3DXD6|E9PDN0|P42576|Q59F21|Q7KZL6|Q86UJ3|Q9BUP7|Q9BZK9|Q9BZL0	Missense_Mutation	SNP	ENST00000310447.5	37	CCDS5879.1																																																																																				0.418	CASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059962.3	NM_032982	
ARHGEF5	7984	broad.mit.edu	37	7	144060759	144060759	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:144060759C>T	ENST00000056217.5	+	2	1171	c.997C>T	c.(997-999)Cca>Tca	p.P333S	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	333					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P333S(1)		breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GCTGCAGGTGCCAGAAGAGAA	0.502																																					p.P333S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C997T	7						.						128.0	113.0	118.0					7																	144060759		2089	4017	6106	143691692	SO:0001583	missense	7984	exon2			U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.997C>T	7.37:g.144060759C>T	ENSP00000056217:p.Pro333Ser		143691692	NM_005435	A6NNJ2|Q6ZML7	Missense_Mutation	SNP	ENST00000056217.5	37	CCDS34771.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.159747	0.38119	.	.	ENSG00000050327	ENST00000056217	T	0.73258	-0.73	3.72	1.52	0.23074	.	1.633890	0.04456	N	0.373522	T	0.61899	0.2384	L	0.48642	1.525	0.22050	N	0.999391	P	0.37781	0.608	B	0.29862	0.108	T	0.52555	-0.8560	9	.	.	.	-0.0024	9.9616	0.41699	0.0:0.4392:0.5608:0.0	.	333	Q12774	ARHG5_HUMAN	S	333	ENSP00000056217:P333S	.	P	+	1	0	ARHGEF5	143691692	0.000000	0.05858	0.013000	0.15412	0.009000	0.06853	-0.018000	0.12568	0.774000	0.33427	0.555000	0.69702	CCA		0.502	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435	
ZNF282	8427	broad.mit.edu	37	7	148895759	148895759	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:148895759G>A	ENST00000262085.3	+	2	605	c.500G>A	c.(499-501)cGg>cAg	p.R167Q	ZNF282_ENST00000479907.1_Missense_Mutation_p.R167Q	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	167					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R167Q(1)		endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CTGCAGAGGCGGCTGGAGAAC	0.642																																					p.R167Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G500A	7						.						53.0	62.0	59.0					7																	148895759		2203	4300	6503	148526692	SO:0001583	missense	8427	exon2			D30612	CCDS5895.1	7q36.1	2013-01-08			ENSG00000170265	ENSG00000170265		"""Zinc fingers, C2H2-type"", ""-"""	13076	protein-coding gene	gene with protein product		603397				9396811	Standard	NM_003575		Approved	HUB1	uc003wfm.3	Q9UDV7	OTTHUMG00000158974	ENST00000262085.3:c.500G>A	7.37:g.148895759G>A	ENSP00000262085:p.Arg167Gln		148526692	NM_003575	B4DRI5|O43691|Q6DKK0	Missense_Mutation	SNP	ENST00000262085.3	37	CCDS5895.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126688	0.77549	.	.	ENSG00000170265	ENST00000430197;ENST00000262085;ENST00000479907	T;T	0.25414	1.8;3.65	4.26	4.26	0.50523	.	0.000000	0.40728	N	0.001035	T	0.46600	0.1401	M	0.64170	1.965	0.34267	D	0.680561	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.91635	0.999;0.994;0.994;0.994	T	0.62120	-0.6921	10	0.87932	D	0	-34.8915	12.5196	0.56052	0.0:0.0:1.0:0.0	.	167;118;139;167	B4DRI5;Q86YG2;Q7Z2V4;Q9UDV7	.;.;.;ZN282_HUMAN	Q	82;167;167	ENSP00000262085:R167Q;ENSP00000418840:R167Q	ENSP00000262085:R167Q	R	+	2	0	ZNF282	148526692	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	5.688000	0.68227	2.096000	0.63516	0.313000	0.20887	CGG		0.642	ZNF282-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352746.1	NM_003575	
RARRES2	5919	broad.mit.edu	37	7	150036162	150036162	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:150036162C>T	ENST00000466675.1	-	3	1321	c.288G>A	c.(286-288)cgG>cgA	p.R96R	RP4-584D14.7_ENST00000563946.1_RNA|RARRES2_ENST00000482669.1_Silent_p.R96R|RARRES2_ENST00000223271.3_Silent_p.R96R			Q99969	RARR2_HUMAN	retinoic acid receptor responder (tazarotene induced) 2	96					brown fat cell differentiation (GO:0050873)|chemotaxis (GO:0006935)|embryonic digestive tract development (GO:0048566)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|positive regulation of chemotaxis (GO:0050921)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of protein phosphorylation (GO:0001934)|regulation of lipid catabolic process (GO:0050994)|retinoid metabolic process (GO:0001523)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)	p.R96R(1)		endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			CCAGGCATTTCCGTTTCCTCT	0.612																																					p.R96R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G288A	7						.						95.0	84.0	88.0					7																	150036162		2203	4300	6503	149667095	SO:0001819	synonymous_variant	5919	exon4			U77594	CCDS5902.1	7q36.1	2013-02-25			ENSG00000106538	ENSG00000106538		"""Endogenous ligands"""	9868	protein-coding gene	gene with protein product	"""chemerin"""	601973				9270552, 17767914	Standard	NM_002889		Approved	TIG2, HP10433	uc003wha.3	Q99969	OTTHUMG00000158325	ENST00000466675.1:c.288G>A	7.37:g.150036162C>T			149667095	NM_002889	Q7LE02	Silent	SNP	ENST00000466675.1	37	CCDS5902.1																																																																																				0.612	RARRES2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350693.1		
GIMAP2	26157	broad.mit.edu	37	7	150389906	150389906	+	Nonsense_Mutation	SNP	C	C	T	rs550994929		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:150389906C>T	ENST00000223293.5	+	3	626	c.532C>T	c.(532-534)Cga>Tga	p.R178*		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	178	AIG1-type G.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	GTP binding (GO:0005525)	p.R178*(1)		kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATGTGGTGGGCGAATCTGTGC	0.478																																					p.R178X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C532T	7						.						117.0	97.0	104.0					7																	150389906		2203	4300	6503	150020839	SO:0001587	stop_gained	26157	exon3			AL110151	CCDS5905.1	7q36.1	2014-04-04			ENSG00000106560	ENSG00000106560		"""GTPases, IMAP"""	21789	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 12"""	608085				15474311	Standard	NM_015660		Approved	DKFZp586D0824, HIMAP2, IMAP2, IAN12	uc003who.3	Q9UG22	OTTHUMG00000157488	ENST00000223293.5:c.532C>T	7.37:g.150389906C>T	ENSP00000223293:p.Arg178*		150020839	NM_015660	Q96L25	Nonsense_Mutation	SNP	ENST00000223293.5	37	CCDS5905.1	.	.	.	.	.	.	.	.	.	.	C	32	5.155047	0.94686	.	.	ENSG00000106560	ENST00000223293	.	.	.	3.89	1.97	0.26223	.	0.150137	0.40818	N	0.001017	.	.	.	.	.	.	0.18873	N	0.999983	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.5978	0.22683	0.2064:0.5938:0.1998:0.0	.	.	.	.	X	178	.	ENSP00000223293:R178X	R	+	1	2	GIMAP2	150020839	0.000000	0.05858	0.002000	0.10522	0.697000	0.40408	-0.345000	0.07770	0.387000	0.25024	0.603000	0.83216	CGA		0.478	GIMAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348948.1	NM_015660	
ASIC3	9311	broad.mit.edu	37	7	150749527	150749527	+	Nonsense_Mutation	SNP	C	C	T	rs374555174		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:150749527C>T	ENST00000349064.5	+	10	1681	c.1483C>T	c.(1483-1485)Cga>Tga	p.R495*	ASIC3_ENST00000357922.4_Intron|ASIC3_ENST00000297512.8_Nonsense_Mutation_p.R495*	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	495					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)	p.R495*(1)									GGGCAGCCATCGAACCCAAGT	0.632																																					p.R495X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1483T	7						.						99.0	84.0	89.0					7																	150749527		2203	4300	6503	150380460	SO:0001587	stop_gained	9311	exon10			AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	101	protein-coding gene	gene with protein product	"""testis sodium channel 1"""	611741	"""amiloride-sensitive cation channel 3, testis"", ""amiloride-sensitive cation channel 3"""	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.1483C>T	7.37:g.150749527C>T	ENSP00000344838:p.Arg495*		150380460	NM_020321	B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Nonsense_Mutation	SNP	ENST00000349064.5	37	CCDS5916.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.285886	0.59867	.	.	ENSG00000213199	ENST00000349064;ENST00000297512;ENST00000490540	.	.	.	4.53	0.302	0.15786	.	.	.	.	.	.	.	.	.	.	.	0.54753	D	0.999989	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-1.8283	7.8897	0.29672	0.0:0.4316:0.4738:0.0946	.	.	.	.	X	495;495;126	.	ENSP00000297512:R495X	R	+	1	2	ACCN3	150380460	0.000000	0.05858	0.000000	0.03702	0.992000	0.81027	-1.105000	0.03323	0.119000	0.18210	0.462000	0.41574	CGA		0.632	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351725.1	NM_004769	
UBE3C	9690	broad.mit.edu	37	7	156961751	156961751	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:156961751C>T	ENST00000348165.5	+	3	490	c.130C>T	c.(130-132)Cga>Tga	p.R44*	UBE3C_ENST00000389103.4_Intron	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	44	Cis-determinant of acceptor ubiquitin- binding.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R44*(1)		central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GGAAGAAAGGCGAAGGTTGAA	0.358																																					p.R44X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C130T	7						.						88.0	85.0	86.0					7																	156961751		2203	4300	6503	156654512	SO:0001587	stop_gained	9690	exon3			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.130C>T	7.37:g.156961751C>T	ENSP00000309198:p.Arg44*		156654512	NM_014671	A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Nonsense_Mutation	SNP	ENST00000348165.5	37	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	C	38	6.909771	0.97928	.	.	ENSG00000009335	ENST00000348165	.	.	.	4.63	3.69	0.42338	.	0.059072	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8002	0.57582	0.3236:0.6764:0.0:0.0	.	.	.	.	X	44	.	ENSP00000309198:R44X	R	+	1	2	UBE3C	156654512	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.737000	0.38197	2.273000	0.75805	0.655000	0.94253	CGA		0.358	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671	
UBE3C	9690	broad.mit.edu	37	7	157013458	157013458	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:157013458T>C	ENST00000348165.5	+	15	2350	c.1990T>C	c.(1990-1992)Tcc>Ccc	p.S664P		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	664					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.S664P(1)		central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CCCGCTGCAGTCCACCCTGGA	0.507																																					p.S664P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1990C	7						.						91.0	76.0	81.0					7																	157013458		2203	4300	6503	156706219	SO:0001583	missense	9690	exon15			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.1990T>C	7.37:g.157013458T>C	ENSP00000309198:p.Ser664Pro		156706219	NM_014671	A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	T	17.90	3.501870	0.64298	.	.	ENSG00000009335	ENST00000348165	T	0.45276	0.9	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.29684	0.0741	N	0.19112	0.55	0.80722	D	1	B	0.17667	0.023	B	0.18263	0.021	T	0.06463	-1.0825	10	0.25106	T	0.35	-24.439	15.1059	0.72322	0.0:0.0:0.0:1.0	.	664	Q15386	UBE3C_HUMAN	P	664	ENSP00000309198:S664P	ENSP00000309198:S664P	S	+	1	0	UBE3C	156706219	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.289000	0.78701	2.031000	0.59945	0.533000	0.62120	TCC		0.507	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671	
SUN1	23353	broad.mit.edu	37	7	905626	905626	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:905626C>T	ENST00000405266.1	+	17	2037	c.2013C>T	c.(2011-2013)taC>taT	p.Y671Y	SUN1_ENST00000452783.2_Silent_p.Y531Y|SUN1_ENST00000425407.2_Silent_p.Y551Y|SUN1_ENST00000389574.3_Silent_p.Y551Y|SUN1_ENST00000401592.1_Silent_p.Y634Y|SUN1_ENST00000413514.2_Silent_p.Y432Y|SUN1_ENST00000456758.2_Silent_p.Y823Y			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	661	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)		p.Y551Y(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGAAACTTACGAAACCAAAA	0.542																																					p.Y634Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1902T	7						.						104.0	108.0	106.0					7																	905626		2034	4198	6232	872152	SO:0001819	synonymous_variant	23353	exon16			AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"""Sad1 unc-84 domain protein 1"""	607723	"""unc-84 homolog A (C. elegans)"""	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.2013C>T	7.37:g.905626C>T			872152	NM_001130965	A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Silent	SNP	ENST00000405266.1	37		.	.	.	.	.	.	.	.	.	.	C	7.011	0.556734	0.13436	.	.	ENSG00000164828	ENST00000433212	.	.	.	4.94	-1.93	0.07594	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-22.9789	11.4481	0.50136	0.0:0.2509:0.0:0.7491	.	.	.	.	X	483	.	.	R	+	1	2	SUN1	872152	0.000000	0.05858	0.836000	0.33094	0.689000	0.40095	-1.854000	0.01664	-0.210000	0.10140	-0.140000	0.14226	CGA		0.542	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1	NM_025154	
INTS1	26173	broad.mit.edu	37	7	1525046	1525046	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:1525046delG	ENST00000404767.3	-	23	3121	c.3036delC	c.(3034-3036)cccfs	p.P1012fs	INTS1_ENST00000389470.4_Frame_Shift_Del_p.P1174fs	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1012					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.M1175fs*55(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CCTCCTCCATGGGGGGCTCCT	0.652																																					p.P1012fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.3036delC	7						.						41.0	52.0	48.0					7																	1525046		2093	4219	6312	1491572	SO:0001589	frameshift_variant	26173	exon23			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.3036delC	7.37:g.1525046delG	ENSP00000385722:p.Pro1012fs		1491572	NM_001080453	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Frame_Shift_Del	DEL	ENST00000404767.3	37	CCDS47526.1																																																																																				0.652	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1		
CARD11	84433	broad.mit.edu	37	7	2976745	2976745	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:2976745G>A	ENST00000396946.4	-	9	1670	c.1267C>T	c.(1267-1269)Cgg>Tgg	p.R423W		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	423					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)	p.R416W(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GCCTCCCGCCGCACCATCTCG	0.602			Mis		DLBCL																																p.R423W			Dom	yes		7	7p22	84433	"""caspase recruitment domain family, member 11"""		L	.	.	2	Substitution - Missense(2)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	c.C1267T	7						.						149.0	120.0	130.0					7																	2976745		2203	4300	6503	2943271	SO:0001583	missense	84433	exon9			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1267C>T	7.37:g.2976745G>A	ENSP00000380150:p.Arg423Trp		2943271	NM_032415	A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055943	0.76074	.	.	ENSG00000198286	ENST00000396946	T	0.36157	1.27	5.22	3.4	0.38934	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	L	0.47190	1.495	0.58432	D	0.999993	D	0.89917	1.0	D	0.85130	0.997	T	0.42749	-0.9433	10	0.87932	D	0	-34.3605	7.4384	0.27169	0.0772:0.0:0.6285:0.2942	.	423	Q9BXL7	CAR11_HUMAN	W	423	ENSP00000380150:R423W	ENSP00000380150:R423W	R	-	1	2	CARD11	2943271	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	4.435000	0.59941	0.584000	0.29591	0.561000	0.74099	CGG		0.602	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415	
ACTB	60	broad.mit.edu	37	7	5568319	5568319	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:5568319A>G	ENST00000331789.5	-	4	586	c.395T>C	c.(394-396)aTg>aCg	p.M132T	AC006483.1_ENST00000579427.1_RNA|ACTB_ENST00000464611.1_5'Flank	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	132					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)	p.M132T(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		AGCAACGTACATGGCTGGGGT	0.587																																					p.M132T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T395C	7						.						104.0	106.0	106.0					7																	5568319		2203	4300	6503	5534845	SO:0001583	missense	60	exon4			M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.395T>C	7.37:g.5568319A>G	ENSP00000349960:p.Met132Thr		5534845	NM_001101	A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000331789.5	37	CCDS5341.1	.	.	.	.	.	.	.	.	.	.	A	14.26	2.482294	0.44147	.	.	ENSG00000075624	ENST00000331789;ENST00000445914;ENST00000400179;ENST00000320713;ENST00000432588	D;D	0.97114	-4.25;-4.25	5.41	5.41	0.78517	.	0.068898	0.64402	D	0.000017	D	0.97247	0.9100	M	0.72624	2.21	0.43942	D	0.996604	B	0.21821	0.061	B	0.42062	0.374	D	0.96509	0.9377	10	0.87932	D	0	.	13.4444	0.61131	1.0:0.0:0.0:0.0	.	132	P60709	ACTB_HUMAN	T	132;132;104;51;132	ENSP00000349960:M132T;ENSP00000407473:M132T	ENSP00000440549:M51T	M	-	2	0	ACTB	5534845	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.151000	0.94674	2.068000	0.61886	0.529000	0.55759	ATG		0.587	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	NM_001101	
AIMP2	7965	broad.mit.edu	37	7	6057467	6057467	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:6057467T>C	ENST00000223029.3	+	3	484	c.365T>C	c.(364-366)aTc>aCc	p.I122T	SNORA42_ENST00000384488.1_RNA|AIMP2_ENST00000400479.2_Missense_Mutation_p.I44T|AIMP2_ENST00000395236.2_Missense_Mutation_p.I53T	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	122	Interaction with PARK2.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|tRNA aminoacylation for protein translation (GO:0006418)|Type II pneumocyte differentiation (GO:0060510)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)		p.I122T(1)		large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CTGAAAGACATCGTGATCAAC	0.582																																					p.I122T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T365C	7						.						80.0	52.0	61.0					7																	6057467		2203	4300	6503	6023993	SO:0001583	missense	7965	exon3			U24169	CCDS5344.1	7p22.1	2009-05-29			ENSG00000106305	ENSG00000106305			20609	protein-coding gene	gene with protein product		600859				8666379, 18695251	Standard	NM_006303		Approved	p38, PRO0992, JTV-1, JTV1	uc003spo.3	Q13155	OTTHUMG00000122077	ENST00000223029.3:c.365T>C	7.37:g.6057467T>C	ENSP00000223029:p.Ile122Thr		6023993	NM_006303	Q75MR1|Q96CZ5|Q9P1L2	Missense_Mutation	SNP	ENST00000223029.3	37	CCDS5344.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.762778	0.89932	.	.	ENSG00000106305	ENST00000223029;ENST00000400479;ENST00000395236	T;T;T	0.37915	1.23;1.17;1.31	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.58977	0.2160	M	0.79475	2.455	0.80722	D	1	D	0.63880	0.993	P	0.59487	0.858	T	0.64054	-0.6497	10	0.87932	D	0	-36.518	16.3943	0.83563	0.0:0.0:0.0:1.0	.	122	Q13155	AIMP2_HUMAN	T	122;44;53	ENSP00000223029:I122T;ENSP00000383327:I44T;ENSP00000378658:I53T	ENSP00000223029:I122T	I	+	2	0	AIMP2	6023993	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	8.035000	0.88872	2.281000	0.76405	0.533000	0.62120	ATC		0.582	AIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242834.2	NM_006303	
AIMP2	7965	broad.mit.edu	37	7	6057563	6057563	+	Missense_Mutation	SNP	C	C	T	rs75895975		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:6057563C>T	ENST00000223029.3	+	3	580	c.461C>T	c.(460-462)aCg>aTg	p.T154M	SNORA42_ENST00000384488.1_RNA|AIMP2_ENST00000400479.2_Missense_Mutation_p.T76M|AIMP2_ENST00000395236.2_Missense_Mutation_p.T85M	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	154	Interaction with PARK2.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|tRNA aminoacylation for protein translation (GO:0006418)|Type II pneumocyte differentiation (GO:0060510)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)		p.T154M(1)		large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						ACGGTGCACACGCACTCCTCG	0.552													c|||	1	0.000199681	0.0	0.0	5008	,	,		15993	0.0		0.001	False		,,,				2504	0.0				p.T154M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C461T	7						.	C	MET/THR	0,4406		0,0,2203	79.0	61.0	67.0		461	2.7	0.7	7	dbSNP_131	67	1,8599	1.2+/-3.3	0,1,4299	yes	missense	AIMP2	NM_006303.3	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	154/321	6057563	1,13005	2203	4300	6503	6024089	SO:0001583	missense	7965	exon3			U24169	CCDS5344.1	7p22.1	2009-05-29			ENSG00000106305	ENSG00000106305			20609	protein-coding gene	gene with protein product		600859				8666379, 18695251	Standard	NM_006303		Approved	p38, PRO0992, JTV-1, JTV1	uc003spo.3	Q13155	OTTHUMG00000122077	ENST00000223029.3:c.461C>T	7.37:g.6057563C>T	ENSP00000223029:p.Thr154Met		6024089	NM_006303	Q75MR1|Q96CZ5|Q9P1L2	Missense_Mutation	SNP	ENST00000223029.3	37	CCDS5344.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	10.12	1.262874	0.23051	0.0	1.16E-4	ENSG00000106305	ENST00000223029;ENST00000400479;ENST00000395236	T;T;T	0.34667	1.35;1.4;1.42	5.82	2.65	0.31530	.	0.206543	0.51477	D	0.000099	T	0.36635	0.0974	M	0.77103	2.36	0.42033	D	0.991034	P	0.44139	0.827	B	0.36959	0.237	T	0.41610	-0.9499	10	0.39692	T	0.17	-18.898	12.7338	0.57212	0.0:0.7988:0.0:0.2012	.	154	Q13155	AIMP2_HUMAN	M	154;76;85	ENSP00000223029:T154M;ENSP00000383327:T76M;ENSP00000378658:T85M	ENSP00000223029:T154M	T	+	2	0	AIMP2	6024089	0.996000	0.38824	0.702000	0.30337	0.340000	0.28889	3.028000	0.49705	0.832000	0.34804	-0.794000	0.03295	ACG		0.552	AIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242834.2	NM_006303	
ZDHHC4	55146	broad.mit.edu	37	7	6621849	6621849	+	Frame_Shift_Del	DEL	T	T	-	rs34551853		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:6621849delT	ENST00000396706.2	+	5	780	c.337delT	c.(337-339)tttfs	p.F115fs	ZDHHC4_ENST00000405731.3_Frame_Shift_Del_p.F115fs|ZDHHC4_ENST00000335965.6_Frame_Shift_Del_p.F115fs|ZDHHC4_ENST00000396707.2_Frame_Shift_Del_p.F115fs|ZDHHC4_ENST00000396709.1_Frame_Shift_Del_p.F115fs|ZDHHC4_ENST00000396713.2_Frame_Shift_Del_p.F115fs|AC079742.4_ENST00000434951.1_RNA			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	115						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.F115fs*3(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		TGTAAACCTGTTTTTTTTCAC	0.453																																					p.F113fs												.	.	2	Deletion - Frameshift(2)	ovary(1)|large_intestine(1)	c.337delT	7						.						259.0	232.0	241.0					7																	6621849		2203	4300	6503	6588374	SO:0001589	frameshift_variant	55146	exon5			AF201931	CCDS5352.1	7p22.1	2011-01-11			ENSG00000136247	ENSG00000136247		"""Zinc fingers, DHHC-type"""	18471	protein-coding gene	gene with protein product							Standard	NM_018106		Approved	FLJ10479, ZNF374	uc003sqj.3	Q9NPG8	OTTHUMG00000023579	ENST00000396706.2:c.337delT	7.37:g.6621849delT	ENSP00000379934:p.Phe115fs		6588374	NM_018106	A4D2N9|Q53EV7|Q6FIB5|Q9H0R9	Frame_Shift_Del	DEL	ENST00000396706.2	37	CCDS5352.1																																																																																				0.453	ZDHHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207477.3	NM_018106	
RSPH10B2	728194	broad.mit.edu	37	7	6797509	6797509	+	Silent	SNP	C	C	T	rs376261585		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:6797509C>T	ENST00000403107.1	+	2	588	c.201C>T	c.(199-201)aaC>aaT	p.N67N	RSPH10B2_ENST00000433859.2_Silent_p.N67N|RSPH10B2_ENST00000404077.1_Silent_p.N67N|RSPH10B2_ENST00000297186.3_Silent_p.N67N|RSPH10B2_ENST00000359718.3_5'UTR			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B2 (Chlamydomonas)	67								p.N67N(2)		breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						TTCAGCAGAACGAAGATGCCA	0.502																																					p.N67N												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C201T	7						.	C		0,4316		0,0,2158	171.0	188.0	182.0		201	-0.1	0.4	7		182	2,8522		0,2,4260	no	coding-synonymous	RSPH10B2	NM_001099697.1		0,2,6418	TT,TC,CC		0.0235,0.0,0.0156		67/871	6797509	2,12838	2158	4262	6420	6764034	SO:0001819	synonymous_variant	222967	exon3				CCDS43552.1	7p22.1	2008-07-04			ENSG00000169402	ENSG00000169402			34385	protein-coding gene	gene with protein product							Standard	NM_001099697		Approved		uc003sqw.1	B2RC85	OTTHUMG00000151856	ENST00000403107.1:c.201C>T	7.37:g.6797509C>T			6764034	NM_173565	A6NMW7|B2RXI4|B2RXJ0|Q86ST9|Q8NE68	Silent	SNP	ENST00000403107.1	37	CCDS43552.1																																																																																				0.502	RSPH10B2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324184.4	NM_001099697	
ICA1	3382	broad.mit.edu	37	7	8198251	8198251	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:8198251delT	ENST00000402384.3	-	7	877	c.611delA	c.(610-612)aacfs	p.N204fs	ICA1_ENST00000396675.3_Frame_Shift_Del_p.N204fs|ICA1_ENST00000265577.7_Frame_Shift_Del_p.N203fs|ICA1_ENST00000401396.1_Frame_Shift_Del_p.N192fs|ICA1_ENST00000422063.2_Frame_Shift_Del_p.N204fs|ICA1_ENST00000407906.1_Frame_Shift_Del_p.N204fs|ICA1_ENST00000406470.2_Frame_Shift_Del_p.N204fs			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	204	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)		p.N204fs*5(3)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TTTGTCAAAGTTTTTTTTTGC	0.378																																					p.N204fs												.	.	3	Deletion - Frameshift(3)	large_intestine(3)	c.611delA	7						.						143.0	125.0	131.0					7																	8198251		2203	4300	6503	8164776	SO:0001589	frameshift_variant	3382	exon7				CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.611delA	7.37:g.8198251delT	ENSP00000385570:p.Asn204fs		8164776	NM_004968	A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Frame_Shift_Del	DEL	ENST00000402384.3	37	CCDS34602.1																																																																																				0.378	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324793.1	NM_004968	
SOSTDC1	25928	broad.mit.edu	37	7	16502336	16502336	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:16502336C>T	ENST00000307068.4	-	2	638	c.458G>A	c.(457-459)cGc>cAc	p.R153H	SOSTDC1_ENST00000396652.1_Missense_Mutation_p.R177H	NM_015464.2	NP_056279.1	Q6X4U4	SOSD1_HUMAN	sclerostin domain containing 1	153	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				hair follicle morphogenesis (GO:0031069)|mammary gland bud morphogenesis (GO:0060648)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell fate commitment (GO:0010454)|odontogenesis of dentin-containing tooth (GO:0042475)|pattern specification process (GO:0007389)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)		p.R153H(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(2)	6	Lung NSC(10;0.185)			UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		TTTGTAGGTGCGTGTGCTGCC	0.542																																					p.R153H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G458A	7						.						220.0	178.0	192.0					7																	16502336		2203	4300	6503	16468861	SO:0001583	missense	25928	exon2			AB059270	CCDS5360.1	7p21.2	2007-08-01			ENSG00000171243	ENSG00000171243			21748	protein-coding gene	gene with protein product	"""ectodin"""	609675					Standard	NM_015464		Approved	DKFZp564D206, USAG1	uc003stg.3	Q6X4U4	OTTHUMG00000090807	ENST00000307068.4:c.458G>A	7.37:g.16502336C>T	ENSP00000304930:p.Arg153His		16468861	NM_015464	A8MUA6|Q96HJ7|Q9Y3U3	Missense_Mutation	SNP	ENST00000307068.4	37	CCDS5360.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.001961	0.93227	.	.	ENSG00000171243	ENST00000307068;ENST00000396652	D;D	0.83914	-1.78;-1.78	5.71	5.71	0.89125	Cystine knot, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91418	0.7292	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.91690	0.5365	10	0.87932	D	0	-26.4667	19.8677	0.96824	0.0:1.0:0.0:0.0	.	177;153	A8MUA6;Q6X4U4	.;SOSD1_HUMAN	H	153;177	ENSP00000304930:R153H;ENSP00000379889:R177H	ENSP00000304930:R153H	R	-	2	0	SOSTDC1	16468861	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.709000	0.92574	0.655000	0.94253	CGC		0.542	SOSTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207603.1	NM_015464	
AHR	196	broad.mit.edu	37	7	17378625	17378625	+	Silent	SNP	A	A	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:17378625A>C	ENST00000242057.4	+	10	1819	c.1176A>C	c.(1174-1176)acA>acC	p.T392T	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	392					apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.T392T(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	AGGAAGGAACAGAGCATTTAC	0.308																																					p.T392T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1176C	7						.						104.0	109.0	107.0					7																	17378625		2203	4300	6503	17345150	SO:0001819	synonymous_variant	196	exon10			L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"""Basic helix-loop-helix proteins"""	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.1176A>C	7.37:g.17378625A>C			17345150	NM_001621	A4D130|Q13728|Q13803|Q13804	Silent	SNP	ENST00000242057.4	37	CCDS5366.1																																																																																				0.308	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621	
AHR	196	broad.mit.edu	37	7	17378828	17378828	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:17378828T>G	ENST00000242057.4	+	10	2022	c.1379T>G	c.(1378-1380)aTg>aGg	p.M460R	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	460					apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.M460R(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	CTGGCTGCCATGATGCAACAA	0.408																																					p.M460R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1379G	7						.						117.0	109.0	112.0					7																	17378828		2203	4300	6503	17345353	SO:0001583	missense	196	exon10			L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"""Basic helix-loop-helix proteins"""	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.1379T>G	7.37:g.17378828T>G	ENSP00000242057:p.Met460Arg		17345353	NM_001621	A4D130|Q13728|Q13803|Q13804	Missense_Mutation	SNP	ENST00000242057.4	37	CCDS5366.1	.	.	.	.	.	.	.	.	.	.	T	17.50	3.405691	0.62288	.	.	ENSG00000106546	ENST00000242057	T	0.05717	3.4	6.03	4.86	0.63082	.	0.514526	0.21273	N	0.077292	T	0.19485	0.0468	M	0.86953	2.85	0.37925	D	0.931839	P	0.40875	0.731	P	0.46543	0.52	T	0.03887	-1.0995	10	0.87932	D	0	.	13.4492	0.61161	0.0:0.0:0.1308:0.8692	.	460	P35869	AHR_HUMAN	R	460	ENSP00000242057:M460R	ENSP00000242057:M460R	M	+	2	0	AHR	17345353	1.000000	0.71417	0.132000	0.22025	0.789000	0.44602	6.267000	0.72546	1.073000	0.40885	0.533000	0.62120	ATG		0.408	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621	
FERD3L	222894	broad.mit.edu	37	7	19184562	19184562	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:19184562T>C	ENST00000275461.3	-	1	482	c.424A>G	c.(424-426)Acc>Gcc	p.T142A	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	142	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.T142A(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						AGGCGGAGGGTCTCGATCCGG	0.577																																					p.T142A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A424G	7						.						114.0	85.0	94.0					7																	19184562		2203	4300	6503	19151087	SO:0001583	missense	222894	exon1			AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"""Basic helix-loop-helix proteins"""	16660	protein-coding gene	gene with protein product			"""Fer3-like (Drosophila)"""			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.424A>G	7.37:g.19184562T>C	ENSP00000275461:p.Thr142Ala		19151087	NM_152898	Q495K0	Missense_Mutation	SNP	ENST00000275461.3	37	CCDS5368.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.783152	0.90282	.	.	ENSG00000146618	ENST00000275461	D	0.98400	-4.91	5.83	5.83	0.93111	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99190	0.9719	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99278	1.0895	10	0.87932	D	0	-8.4619	16.1997	0.82060	0.0:0.0:0.0:1.0	.	142	Q96RJ6	FER3L_HUMAN	A	142	ENSP00000275461:T142A	ENSP00000275461:T142A	T	-	1	0	FERD3L	19151087	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.240000	0.73641	0.528000	0.53228	ACC		0.577	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207627.1		
ABCB5	340273	broad.mit.edu	37	7	20768030	20768030	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:20768030G>A	ENST00000404938.2	+	23	3471	c.2819G>A	c.(2818-2820)gGa>gAa	p.G940E	ABCB5_ENST00000258738.6_Missense_Mutation_p.G495E	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	940	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)	p.G495E(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTTCGATTTGGAGCCTATTTA	0.443																																					p.G495E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1484A	7						.						111.0	110.0	111.0					7																	20768030		2203	4300	6503	20734555	SO:0001583	missense	340273	exon14			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2819G>A	7.37:g.20768030G>A	ENSP00000384881:p.Gly940Glu		20734555	NM_178559	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971647	0.74246	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.94650	-3.48;-3.48	3.91	3.91	0.45181	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.52532	D	0.000068	D	0.97832	0.9288	H	0.94925	3.6	0.52099	D	0.999946	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	D	0.98383	1.0559	10	0.87932	D	0	.	14.2264	0.65863	0.0:0.0:1.0:0.0	.	940;118;495	A7BKA4;A0ASV4;Q2M3G0	.;.;ABCB5_HUMAN	E	940;495	ENSP00000384881:G940E;ENSP00000258738:G495E	ENSP00000258738:G495E	G	+	2	0	ABCB5	20734555	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	5.712000	0.68407	2.472000	0.83506	0.655000	0.94253	GGA		0.443	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559	
ABCB5	340273	broad.mit.edu	37	7	20795243	20795243	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:20795243A>G	ENST00000404938.2	+	28	4422	c.3770A>G	c.(3769-3771)cAg>cGg	p.Q1257R	ABCB5_ENST00000258738.6_Missense_Mutation_p.Q812R	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	1257					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)	p.Q812R(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CAGTCAGTGCAGTGATGCTGT	0.368																																					p.Q812R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2435G	7						.						76.0	71.0	73.0					7																	20795243		2203	4300	6503	20761768	SO:0001583	missense	340273	exon19			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.3770A>G	7.37:g.20795243A>G	ENSP00000384881:p.Gln1257Arg		20761768	NM_178559	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.843923	0.51164	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.86297	-2.09;-2.1	5.16	2.62	0.31277	.	1.474270	0.04821	U	0.436992	D	0.82495	0.5049	N	0.12746	0.255	0.21386	N	0.999702	B;D	0.57257	0.0;0.979	B;P	0.51777	0.001;0.679	T	0.73291	-0.4029	10	0.72032	D	0.01	.	6.0321	0.19686	0.7473:0.1646:0.0881:0.0	.	1257;812	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	R	1257;812	ENSP00000384881:Q1257R;ENSP00000258738:Q812R	ENSP00000258738:Q812R	Q	+	2	0	ABCB5	20761768	0.999000	0.42202	0.993000	0.49108	0.753000	0.42808	2.493000	0.45320	1.054000	0.40438	0.528000	0.53228	CAG		0.368	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559	
DNAH11	8701	broad.mit.edu	37	7	21631037	21631037	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:21631037A>T	ENST00000409508.3	+	14	2540	c.2509A>T	c.(2509-2511)Atc>Ttc	p.I837F	DNAH11_ENST00000328843.6_Missense_Mutation_p.I837F	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	837	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.I837F(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CGTGAAGGTGATCCAGCAGAC	0.587									Kartagener syndrome																												p.I837F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2509T	7						.						40.0	43.0	42.0					7																	21631037		2110	4225	6335	21597562	SO:0001583	missense	8701	exon14	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.2509A>T	7.37:g.21631037A>T	ENSP00000475939:p.Ile837Phe		21597562	NM_003777	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	A	16.11	3.029355	0.54790	.	.	ENSG00000105877	ENST00000328843	T	0.29917	1.55	5.63	3.28	0.37604	.	0.248347	0.41294	D	0.000914	T	0.29458	0.0734	.	.	.	0.48040	D	0.999574	P	0.50272	0.933	B	0.42386	0.386	T	0.04255	-1.0965	9	0.72032	D	0.01	.	9.7362	0.40390	0.881:0.0:0.119:0.0	.	837	Q96DT5	DYH11_HUMAN	F	837	ENSP00000330671:I837F	ENSP00000330671:I837F	I	+	1	0	DNAH11	21597562	0.996000	0.38824	0.253000	0.24343	0.535000	0.34838	3.515000	0.53429	0.438000	0.26450	0.459000	0.35465	ATC		0.587	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
PPP1R17	10842	broad.mit.edu	37	7	31736726	31736726	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:31736726C>T	ENST00000342032.3	+	4	1011	c.383C>T	c.(382-384)gCa>gTa	p.A128V	PPP1R17_ENST00000498609.1_3'UTR|PPP1R17_ENST00000409146.3_Missense_Mutation_p.A77V	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17	128					central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)	p.A128V(1)									TCCCCCTTTGCAGCAGGTAAA	0.537																																					p.A128V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C383T	7						.						64.0	60.0	61.0					7																	31736726		2203	4300	6503	31703251	SO:0001583	missense	10842	exon4			AF071789	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16973	protein-coding gene	gene with protein product	"""G-substrate"""	604088	"""chromosome 7 open reading frame 16"""	C7orf16		10051666, 9920894	Standard	NM_006658		Approved	GSBS	uc003tcl.3	O96001	OTTHUMG00000128629	ENST00000342032.3:c.383C>T	7.37:g.31736726C>T	ENSP00000340125:p.Ala128Val		31703251	NM_006658	B4DE58|Q9UDQ0	Missense_Mutation	SNP	ENST00000342032.3	37	CCDS5436.1	.	.	.	.	.	.	.	.	.	.	C	3.207	-0.162419	0.06502	.	.	ENSG00000106341	ENST00000342032;ENST00000409146	T;T	0.27256	1.68;1.72	5.63	2.69	0.31865	.	0.608461	0.16507	N	0.211406	T	0.08133	0.0203	N	0.04508	-0.205	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.002	T	0.38222	-0.9671	10	0.02654	T	1	-1.937	3.6515	0.08205	0.1939:0.4753:0.0:0.3308	.	77;128	B4DE58;O96001	.;PPR17_HUMAN	V	128;77	ENSP00000340125:A128V;ENSP00000386459:A77V	ENSP00000340125:A128V	A	+	2	0	C7orf16	31703251	0.041000	0.20044	0.979000	0.43373	0.952000	0.60782	0.485000	0.22324	0.761000	0.33130	0.563000	0.77884	GCA		0.537	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250498.1	NM_006658	
PDE1C	5137	broad.mit.edu	37	7	31864483	31864483	+	Silent	SNP	C	C	T	rs140362011		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:31864483C>T	ENST00000396191.1	-	13	1859	c.1404G>A	c.(1402-1404)tcG>tcA	p.S468S	PDE1C_ENST00000321453.7_Silent_p.S468S|PDE1C_ENST00000396193.1_Silent_p.S528S|PDE1C_ENST00000396182.2_Silent_p.S468S|PDE1C_ENST00000396184.3_Silent_p.S468S	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	468	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.S468S(3)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	CCACTGACCTCGAACGCCTCT	0.507																																					p.S468S												.	.	3	Substitution - coding silent(3)	large_intestine(2)|skin(1)	c.G1404A	7						.						164.0	139.0	148.0					7																	31864483		2203	4300	6503	31831008	SO:0001819	synonymous_variant	5137	exon13			U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1404G>A	7.37:g.31864483C>T			31831008	NM_001191056	B3KPC6|E9PE92|Q14124|Q8NB10	Silent	SNP	ENST00000396191.1	37	CCDS55099.1																																																																																				0.507	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1		
SEPT7	989	broad.mit.edu	37	7	35942757	35942757	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:35942757T>C	ENST00000435235.1	+	12	1479	c.1047T>C	c.(1045-1047)cgT>cgC	p.R349R	SEPT7_ENST00000399035.3_Silent_p.R401R|SEPT7_ENST00000432293.2_Silent_p.R53R|SEPT7_ENST00000399034.2_Silent_p.R403R|SEPT7_ENST00000350320.6_Silent_p.R401R|SEPT7_ENST00000494488.2_3'UTR			Q16181	SEPT7_HUMAN	septin 7	402					cilium morphogenesis (GO:0060271)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein heterooligomerization (GO:0051291)|regulation of embryonic cell shape (GO:0016476)	actin cytoskeleton (GO:0015629)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|septin complex (GO:0031105)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.R403R(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						AAAAACGTCGTCAGTTCGAGG	0.383																																					p.S402P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1204C	7						.						62.0	59.0	60.0					7																	35942757		1851	4096	5947	35909282	SO:0001819	synonymous_variant	989	exon12			S72008	CCDS75582.1	7p14.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000122545	ENSG00000122545		"""Septins"""	1717	protein-coding gene	gene with protein product		603151	"""CDC10 cell division cycle 10 homolog (S. cerevisiae)"""	CDC10		8037772	Standard	NM_001788		Approved	CDC3, SEPT7A	uc011kau.2	Q16181	OTTHUMG00000155063	ENST00000435235.1:c.1047T>C	7.37:g.35942757T>C			35909282	NM_001788	Q52M76|Q6NX50	Silent	SNP	ENST00000435235.1	37																																																																																					0.383	SEPT7-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000338285.1	NM_001788	
GPR141	353345	broad.mit.edu	37	7	37780686	37780686	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:37780686A>T	ENST00000447769.1	+	4	980	c.691A>T	c.(691-693)Ata>Tta	p.I231L	GPR141_ENST00000334425.1_Missense_Mutation_p.I231L|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I231L(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCTATTTTTTATAGGGGTCAT	0.433																																					p.I231L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A691T	7						.						147.0	149.0	148.0					7																	37780686		2203	4300	6503	37747211	SO:0001583	missense	353345	exon1			AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"""GPCR / Class A : Orphans"""	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.691A>T	7.37:g.37780686A>T	ENSP00000390410:p.Ile231Leu		37747211	NM_181791	A4D1X7|Q0VAR5|Q86SP3	Missense_Mutation	SNP	ENST00000447769.1	37	CCDS5451.1	.	.	.	.	.	.	.	.	.	.	A	8.943	0.966230	0.18659	.	.	ENSG00000187037	ENST00000447769;ENST00000334425	T;T	0.69435	-0.4;-0.4	5.2	2.79	0.32731	GPCR, rhodopsin-like superfamily (1);	0.122876	0.56097	D	0.000028	T	0.49029	0.1533	L	0.35487	1.065	0.80722	D	1	B	0.26002	0.139	B	0.28849	0.095	T	0.20174	-1.0283	10	0.17832	T	0.49	-19.3655	5.4842	0.16741	0.6935:0.1493:0.1573:0.0	.	231	Q7Z602	GP141_HUMAN	L	231	ENSP00000390410:I231L;ENSP00000334540:I231L	ENSP00000334540:I231L	I	+	1	0	GPR141	37747211	1.000000	0.71417	0.938000	0.37757	0.996000	0.88848	2.735000	0.47377	0.513000	0.28278	0.533000	0.62120	ATA		0.433	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2	NM_181791	
SFRP4	6424	broad.mit.edu	37	7	37953987	37953987	+	Missense_Mutation	SNP	G	G	A	rs140561432		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:37953987G>A	ENST00000436072.2	-	2	891	c.514C>T	c.(514-516)Cgc>Tgc	p.R172C	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	172					brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R172C(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GGGCTTAGGCGTTTACAGTCA	0.473																																					p.R172C												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C514T	7						.	G	CYS/ARG	4,4402	8.1+/-20.4	0,4,2199	177.0	156.0	164.0		514	5.7	1.0	7	dbSNP_134	164	0,8600		0,0,4300	yes	missense	SFRP4	NM_003014.3	180	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign	172/347	37953987	4,13002	2203	4300	6503	37920512	SO:0001583	missense	6424	exon2			AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.514C>T	7.37:g.37953987G>A	ENSP00000410715:p.Arg172Cys		37920512	NM_003014	B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Missense_Mutation	SNP	ENST00000436072.2	37	CCDS5453.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.859220	0.51376	9.08E-4	0.0	ENSG00000106483	ENST00000436072;ENST00000446575;ENST00000447200	T;T	0.64803	-0.12;0.87	5.66	5.66	0.87406	Tissue inhibitor of metalloproteinases-like, OB-fold (1);	0.412571	0.24750	N	0.035916	T	0.48768	0.1518	N	0.22421	0.69	0.41896	D	0.990392	P	0.41498	0.752	B	0.38712	0.28	T	0.52593	-0.8555	10	0.45353	T	0.12	.	13.4912	0.61397	0.0:0.0:0.8435:0.1565	.	172	Q6FHJ7	SFRP4_HUMAN	C	172;169;38	ENSP00000410715:R172C;ENSP00000402262:R38C	ENSP00000410715:R172C	R	-	1	0	SFRP4	37920512	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.848000	0.48278	2.656000	0.90262	0.655000	0.94253	CGC		0.473	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	NM_003014	
GLI3	2737	broad.mit.edu	37	7	42005127	42005127	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:42005127G>A	ENST00000395925.3	-	15	3628	c.3544C>T	c.(3544-3546)Cgg>Tgg	p.R1182W	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1182					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R1182W(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ACAGCGGGCCGCGGCCCACAC	0.667									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																												p.R1182W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3544T	7						.						71.0	86.0	81.0					7																	42005127		2203	4297	6500	41971652	SO:0001583	missense	2737	exon15	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3544C>T	7.37:g.42005127G>A	ENSP00000379258:p.Arg1182Trp		41971652	NM_000168	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.555839	0.27827	.	.	ENSG00000106571	ENST00000395925	T	0.13657	2.57	5.67	1.61	0.23674	.	0.106556	0.64402	D	0.000002	T	0.20941	0.0504	N	0.22421	0.69	0.80722	D	1	D	0.89917	1.0	D	0.66979	0.948	T	0.00230	-1.1897	10	0.37606	T	0.19	.	15.1565	0.72746	0.0:0.0:0.5137:0.4863	.	1182	P10071	GLI3_HUMAN	W	1182	ENSP00000379258:R1182W	ENSP00000379258:R1182W	R	-	1	2	GLI3	41971652	1.000000	0.71417	0.015000	0.15790	0.040000	0.13550	3.290000	0.51755	0.008000	0.14787	-0.311000	0.09066	CGG		0.667	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168	
AEBP1	165	broad.mit.edu	37	7	44153451	44153451	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:44153451T>C	ENST00000223357.3	+	21	3373	c.3068T>C	c.(3067-3069)cTa>cCa	p.L1023P	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_Missense_Mutation_p.L598P	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1023	Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.L1023P(1)		NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CAGCGACGCCTACAACACCGC	0.677																																					p.L1023P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3068C	7						.						63.0	69.0	67.0					7																	44153451		2203	4300	6503	44119976	SO:0001583	missense	165	exon21			D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.3068T>C	7.37:g.44153451T>C	ENSP00000223357:p.Leu1023Pro		44119976	NM_001129	Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	T	19.84	3.901741	0.72754	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	D;D	0.95656	-3.77;-3.16	5.33	5.33	0.75918	.	0.392399	0.23237	N	0.050385	D	0.94840	0.8333	N	0.24115	0.695	0.58432	D	0.999999	D;D	0.63880	0.993;0.989	P;P	0.59487	0.858;0.726	D	0.95635	0.8693	10	0.72032	D	0.01	-19.0985	14.9817	0.71316	0.0:0.0:0.0:1.0	.	598;1023	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	P	1023;598	ENSP00000223357:L1023P;ENSP00000398878:L598P	ENSP00000223357:L1023P	L	+	2	0	AEBP1	44119976	0.813000	0.29090	0.934000	0.37439	0.789000	0.44602	3.553000	0.53713	2.022000	0.59522	0.455000	0.32223	CTA		0.677	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129	
ADCY1	107	broad.mit.edu	37	7	45717535	45717535	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:45717535A>G	ENST00000297323.7	+	9	1695	c.1673A>G	c.(1672-1674)tAc>tGc	p.Y558C		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	558					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.Y558C(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AACGTTGTCTACACCACCCCG	0.517																																					p.Y558C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1673G	7						.						86.0	98.0	94.0					7																	45717535		2203	4300	6503	45684060	SO:0001583	missense	107	exon9			L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1673A>G	7.37:g.45717535A>G	ENSP00000297323:p.Tyr558Cys		45684060	NM_021116	A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	A	19.10	3.762895	0.69763	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	T	0.79247	-1.25	5.24	5.24	0.73138	.	0.434355	0.25458	N	0.030528	T	0.64768	0.2628	N	0.19112	0.55	0.40066	D	0.975956	B	0.11235	0.004	B	0.04013	0.001	T	0.61618	-0.7026	10	0.38643	T	0.18	.	13.1025	0.59228	1.0:0.0:0.0:0.0	.	558	Q08828	ADCY1_HUMAN	C	558	ENSP00000297323:Y558C	ENSP00000297323:Y558C	Y	+	2	0	ADCY1	45684060	1.000000	0.71417	0.845000	0.33349	0.991000	0.79684	8.596000	0.90844	1.980000	0.57719	0.533000	0.62120	TAC		0.517	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116	
ZNF479	90827	broad.mit.edu	37	7	57188025	57188025	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:57188025G>A	ENST00000331162.4	-	5	1367	c.1097C>T	c.(1096-1098)tCg>tTg	p.S366L		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	366					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.S366L(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CATAAGGTTCGAGGATAAGCT	0.443																																					p.S366L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1097T	7						.						38.0	38.0	38.0					7																	57188025		2075	4226	6301	57191967	SO:0001583	missense	90827	exon5			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.1097C>T	7.37:g.57188025G>A	ENSP00000333776:p.Ser366Leu		57191967	NM_033273		Missense_Mutation	SNP	ENST00000331162.4	37	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	g	5.183	0.219367	0.09863	.	.	ENSG00000185177	ENST00000331162	T	0.07444	3.19	0.946	0.946	0.19549	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08582	0.0213	M	0.76938	2.355	0.09310	N	1	P	0.39404	0.672	B	0.24974	0.057	T	0.25745	-1.0123	9	0.72032	D	0.01	.	4.8504	0.13535	0.0:0.3966:0.6034:0.0	.	366	Q96JC4	ZN479_HUMAN	L	366	ENSP00000333776:S366L	ENSP00000333776:S366L	S	-	2	0	ZNF479	57191967	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.093000	0.11111	0.399000	0.25367	0.400000	0.26472	TCG		0.443	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202	
AUTS2	26053	broad.mit.edu	37	7	69364346	69364346	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:69364346A>G	ENST00000342771.4	+	2	705	c.384A>G	c.(382-384)gcA>gcG	p.A128A	AUTS2_ENST00000406775.2_Silent_p.A128A|AUTS2_ENST00000403018.2_Silent_p.A128A	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	128								p.A128A(1)		breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		AACGAGAAGCACTTACCAATG	0.493																																					p.A128A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A384G	7						.						116.0	108.0	111.0					7																	69364346		2203	4300	6503	69002282	SO:0001819	synonymous_variant	26053	exon2			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.384A>G	7.37:g.69364346A>G			69002282	NM_015570	A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Silent	SNP	ENST00000342771.4	37	CCDS5539.1																																																																																				0.493	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2		
WBSCR17	64409	broad.mit.edu	37	7	71130508	71130508	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:71130508C>T	ENST00000333538.5	+	7	1827	c.1193C>T	c.(1192-1194)gCt>gTt	p.A398V	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	398					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.A398V(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AAGAGGAATGCTCTTCGCGTT	0.542																																					p.A398V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1193T	7						.						124.0	107.0	113.0					7																	71130508		2203	4300	6503	70768444	SO:0001583	missense	64409	exon7			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1193C>T	7.37:g.71130508C>T	ENSP00000329654:p.Ala398Val		70768444	NM_022479	Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	C	34	5.307044	0.95629	.	.	ENSG00000185274	ENST00000333538	T	0.68903	-0.36	5.85	5.85	0.93711	.	0.104308	0.64402	D	0.000004	D	0.84174	0.5414	M	0.87328	2.875	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.82436	-0.0458	10	0.31617	T	0.26	.	19.147	0.93472	0.0:1.0:0.0:0.0	.	398	Q6IS24	GLTL3_HUMAN	V	398	ENSP00000329654:A398V	ENSP00000329654:A398V	A	+	2	0	WBSCR17	70768444	1.000000	0.71417	0.976000	0.42696	0.860000	0.49131	7.818000	0.86416	2.770000	0.95276	0.563000	0.77884	GCT		0.542	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479	
FKBP6	8468	broad.mit.edu	37	7	72744229	72744229	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:72744229G>A	ENST00000252037.4	+	4	411	c.342G>A	c.(340-342)ccG>ccA	p.P114P	TRIM50_ENST00000333149.2_5'Flank|TRIM50_ENST00000493498.1_5'Flank|FKBP6_ENST00000431982.2_Silent_p.P109P|FKBP6_ENST00000413573.2_Silent_p.P84P	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	114	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|piRNA metabolic process (GO:0034587)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|synaptonemal complex (GO:0000795)	FK506 binding (GO:0005528)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.P114P(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				TGTTCAAACCGAACTACGCCT	0.537																																					p.P114P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G342A	7						.						146.0	127.0	133.0					7																	72744229		2203	4300	6503	72382165	SO:0001819	synonymous_variant	8468	exon4			AF038847	CCDS43595.1, CCDS47604.1, CCDS64670.1	7q11.23	2009-01-05	2002-08-29		ENSG00000077800	ENSG00000077800			3722	protein-coding gene	gene with protein product	"""FK506 binding protein 6 (36kD)"", ""peptidylprolyl cis-trans isomerase"", ""rotamase"", ""immunophilin FKBP36"""	604839	"""FK506-binding protein 6 (36kD)"""			9782077, 19001379	Standard	NM_003602		Approved	PPIase, FKBP36	uc003tya.2	O75344	OTTHUMG00000150520	ENST00000252037.4:c.342G>A	7.37:g.72744229G>A			72382165	NM_003602	B4DXT7|G3V0I2|Q7Z4T4|Q9UDS0	Silent	SNP	ENST00000252037.4	37	CCDS43595.1																																																																																				0.537	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318723.1	NM_003602	
SSC4D	136853	broad.mit.edu	37	7	76033632	76033634	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	AGG	AGG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:76033632_76033634delAGG	ENST00000275560.3	-	2	470_472	c.123_125delCCT	c.(121-126)ctcctg>ctg	p.41_42LL>L	ZP3_ENST00000336517.4_Intron	NM_080744.1	NP_542782.1												p.L42delL(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						ACCCAGTGGCAGGAGGAGAAGGA	0.562																																					p.41_42del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.123_125del	7						.																																			75871570	SO:0001651	inframe_deletion	136853	exon2																														ENST00000275560.3:c.123_125delCCT	7.37:g.76033635_76033637delAGG	ENSP00000275560:p.Leu42del		75871568	NM_080744		In_Frame_Del	DEL	ENST00000275560.3	37	CCDS5585.1																																																																																				0.562	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253001.3		
PHTF2	57157	broad.mit.edu	37	7	77569921	77569921	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:77569921G>A	ENST00000248550.7	+	14	1893	c.1817G>A	c.(1816-1818)cGg>cAg	p.R606Q	PHTF2_ENST00000416283.2_Missense_Mutation_p.R572Q|PHTF2_ENST00000307305.8_Missense_Mutation_p.R568Q|PHTF2_ENST00000422959.2_Missense_Mutation_p.R572Q|PHTF2_ENST00000275575.7_Missense_Mutation_p.R568Q			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	606					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R572Q(1)|p.R606Q(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						CCTCATTTCCGGTTGAAGAAA	0.378																																					p.R568Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1703A	7						.						108.0	106.0	106.0					7																	77569921		1823	4073	5896	77407857	SO:0001583	missense	57157	exon12			AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.1817G>A	7.37:g.77569921G>A	ENSP00000248550:p.Arg606Gln		77407857	NM_020432	A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Missense_Mutation	SNP	ENST00000248550.7	37		.	.	.	.	.	.	.	.	.	.	G	35	5.541019	0.96474	.	.	ENSG00000006576	ENST00000427986;ENST00000422959;ENST00000307305;ENST00000275575;ENST00000416283;ENST00000248550	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.80008	0.4545	M	0.72118	2.19	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.87578	0.996;0.99;0.986;0.998	T	0.81050	-0.1108	9	0.87932	D	0	-11.539	19.8155	0.96566	0.0:0.0:1.0:0.0	.	568;572;606;568	Q8N3S3-4;Q8N3S3-2;Q8N3S3;Q8N3S3-3	.;.;PHTF2_HUMAN;.	Q	572;572;568;568;572;606	.	ENSP00000248550:R606Q	R	+	2	0	PHTF2	77407857	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.776000	0.99001	2.691000	0.91804	0.563000	0.77884	CGG		0.378	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432	
GNAI1	2770	broad.mit.edu	37	7	79828551	79828551	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:79828551G>A	ENST00000351004.3	+	4	687	c.314G>A	c.(313-315)cGc>cAc	p.R105H	GNAI1_ENST00000457358.2_Missense_Mutation_p.R53H	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	105					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|response to peptide hormone (GO:0043434)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.R105H(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						GATGATGCACGCCAACTCTTT	0.378																																					p.R105H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G314A	7						.						111.0	104.0	107.0					7																	79828551		2203	4300	6503	79666487	SO:0001583	missense	2770	exon4			AL049933	CCDS5595.1, CCDS59061.1	7q21-q22	2008-07-18			ENSG00000127955	ENSG00000127955			4384	protein-coding gene	gene with protein product	"""Gi1 protein alpha subunit"""	139310				3110783	Standard	NM_002069		Approved		uc003uhb.1	P63096	OTTHUMG00000023523	ENST00000351004.3:c.314G>A	7.37:g.79828551G>A	ENSP00000343027:p.Arg105His		79666487	NM_002069	A8KA88|B4E2V1|C9J3A4|P04898|P11015|P31871|Q5U074|Q8TAN5|Q9UGA4	Missense_Mutation	SNP	ENST00000351004.3	37	CCDS5595.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805942	0.70682	.	.	ENSG00000127955	ENST00000351004;ENST00000418742;ENST00000457358	D;D;D	0.88818	-2.43;-2.43;-2.43	5.98	5.98	0.97165	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.89598	0.6761	M	0.66378	2.025	0.80722	D	1	P	0.42961	0.795	B	0.41860	0.368	D	0.88215	0.2893	9	.	.	.	.	20.4366	0.99092	0.0:0.0:1.0:0.0	.	105	P63096	GNAI1_HUMAN	H	105;53;53	ENSP00000343027:R105H;ENSP00000389435:R53H;ENSP00000410572:R53H	.	R	+	2	0	GNAI1	79666487	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.009000	0.88606	2.843000	0.97960	0.585000	0.79938	CGC		0.378	GNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253254.1	NM_002069	
CACNA2D1	781	broad.mit.edu	37	7	81591319	81591319	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:81591319A>G	ENST00000356253.5	-	36	3148	c.2893T>C	c.(2893-2895)Ttc>Ctc	p.F965L	CACNA2D1_ENST00000535308.1_Missense_Mutation_p.F165L|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.F953L			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	965					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.F953L(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GAGGCCGTGAAGTCATCATCC	0.478																																					p.F953L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2857C	7						.						120.0	113.0	115.0					7																	81591319		2203	4300	6503	81429255	SO:0001583	missense	781	exon36			M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2893T>C	7.37:g.81591319A>G	ENSP00000348589:p.Phe965Leu		81429255	NM_000722	Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37		.	.	.	.	.	.	.	.	.	.	A	11.40	1.628306	0.28978	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000535308	T;T;T	0.71341	-0.56;-0.56;-0.56	5.19	5.19	0.71726	.	0.144400	0.64402	D	0.000015	T	0.56702	0.2003	L	0.38175	1.15	0.36550	D	0.87181	B;B	0.13145	0.003;0.007	B;B	0.14578	0.004;0.011	T	0.56135	-0.8029	10	0.11485	T	0.65	-18.734	10.6005	0.45365	0.9241:0.0:0.0759:0.0	.	165;953	B7Z658;P54289-2	.;.	L	953;972;965;165	ENSP00000349320:F953L;ENSP00000348589:F965L;ENSP00000443124:F165L	ENSP00000284088:F972L	F	-	1	0	CACNA2D1	81429255	1.000000	0.71417	0.989000	0.46669	0.853000	0.48598	3.927000	0.56499	2.093000	0.63338	0.529000	0.55759	TTC		0.478	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding			
PCLO	27445	broad.mit.edu	37	7	82581303	82581303	+	Missense_Mutation	SNP	C	C	T	rs562609636		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:82581303C>T	ENST00000333891.9	-	5	9303	c.8966G>A	c.(8965-8967)gGa>gAa	p.G2989E	PCLO_ENST00000437081.1_5'Flank|PCLO_ENST00000423517.2_Missense_Mutation_p.G2989E	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.G2989E(2)|p.G2920E(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGGCTTCATTCCCCCAATCCC	0.418													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20132	0.0		0.0	False		,,,				2504	0.0				p.G2989E												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G8966A	7						.						202.0	192.0	195.0					7																	82581303		1881	4129	6010	82419239	SO:0001583	missense	27445	exon5			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.8966G>A	7.37:g.82581303C>T	ENSP00000334319:p.Gly2989Glu		82419239	NM_033026		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.395372	0.25205	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16457	2.34;2.35	5.73	5.73	0.89815	.	.	.	.	.	T	0.41903	0.1179	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	T	0.12889	-1.0530	9	0.87932	D	0	.	19.9041	0.97001	0.0:1.0:0.0:0.0	.	2989;2989	Q9Y6V0-5;Q9Y6V0-6	.;.	E	2920;2989;2989	ENSP00000334319:G2989E;ENSP00000388393:G2989E	ENSP00000334319:G2989E	G	-	2	0	PCLO	82419239	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.778000	0.55371	2.698000	0.92095	0.557000	0.71058	GGA		0.418	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
PCLO	27445	broad.mit.edu	37	7	82584804	82584804	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:82584804C>A	ENST00000333891.9	-	5	5802	c.5465G>T	c.(5464-5466)aGg>aTg	p.R1822M	PCLO_ENST00000423517.2_Missense_Mutation_p.R1822M	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.R1822M(2)|p.R1753M(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTCTTTGGCCTTTCCCTTCT	0.423																																					p.R1822M												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G5465T	7						.						255.0	235.0	241.0					7																	82584804		1877	4104	5981	82422740	SO:0001583	missense	27445	exon5			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5465G>T	7.37:g.82584804C>A	ENSP00000334319:p.Arg1822Met		82422740	NM_033026		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	8.197	0.797340	0.16327	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.29655	1.56;1.58	5.33	5.33	0.75918	.	.	.	.	.	T	0.44540	0.1298	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.98	T	0.48139	-0.9061	9	0.87932	D	0	.	19.012	0.92877	0.0:1.0:0.0:0.0	.	1822;1822	Q9Y6V0-5;Q9Y6V0-6	.;.	M	1753;1822;1822	ENSP00000334319:R1822M;ENSP00000388393:R1822M	ENSP00000334319:R1822M	R	-	2	0	PCLO	82422740	0.992000	0.36948	0.981000	0.43875	0.992000	0.81027	2.563000	0.45922	2.502000	0.84385	0.655000	0.94253	AGG		0.423	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
CFAP69	79846	broad.mit.edu	37	7	89901218	89901218	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:89901218A>G	ENST00000389297.4	+	8	1057	c.806A>G	c.(805-807)gAa>gGa	p.E269G	C7orf63_ENST00000316089.8_Missense_Mutation_p.E269G|AC002064.4_ENST00000420245.1_RNA|C7orf63_ENST00000463311.1_Intron|C7orf63_ENST00000497910.1_Missense_Mutation_p.E251G	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		269								p.E269G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						AACTTGCTGGAAAAATCTTCA	0.378																																					p.E251G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A752G	7						.						36.0	36.0	36.0					7																	89901218		1816	4081	5897	89739154	SO:0001583	missense	79846	exon8																														ENST00000389297.4:c.806A>G	7.37:g.89901218A>G	ENSP00000373948:p.Glu269Gly		89739154	NM_001160138	A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	ENST00000389297.4	37	CCDS43613.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.81|19.81	3.897428|3.897428	0.72639|0.72639	.|.	.|.	ENSG00000105792|ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000457170|ENST00000418199	T;T;T;T|.	0.24151|.	1.87;1.87;1.87;1.87|.	5.21|5.21	5.21|5.21	0.72293|0.72293	.|.	0.059661|.	0.64402|.	D|.	0.000004|.	T|T	0.75708|0.75708	0.3886|0.3886	M|M	0.78049|0.78049	2.395|2.395	0.43766|0.43766	D|D	0.996288|0.996288	D;P|.	0.89917|.	1.0;0.884|.	D;P|.	0.77004|.	0.989;0.776|.	T|T	0.77078|0.77078	-0.2721|-0.2721	10|5	0.66056|.	D|.	0.02|.	-20.8663|-20.8663	15.2575|15.2575	0.73596|0.73596	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	251;269|.	A5D8W1-5;A5D8W1|.	.;CG063_HUMAN|.	G|E	269;269;251;209|71	ENSP00000373948:E269G;ENSP00000321753:E269G;ENSP00000419549:E251G;ENSP00000392365:E209G|.	ENSP00000321753:E269G|.	E|K	+|+	2|1	0|0	C7orf63|C7orf63	89739154|89739154	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.944000|0.944000	0.59088|0.59088	5.502000|5.502000	0.66956|0.66956	2.174000|2.174000	0.68829|0.68829	0.528000|0.528000	0.53228|0.53228	GAA|AAA		0.378	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4		
AKAP9	10142	broad.mit.edu	37	7	91630882	91630882	+	Missense_Mutation	SNP	A	A	G	rs140664656	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:91630882A>G	ENST00000359028.2	+	9	1912	c.1687A>G	c.(1687-1689)Ata>Gta	p.I563V	AKAP9_ENST00000358100.2_Missense_Mutation_p.I563V|AKAP9_ENST00000356239.3_Missense_Mutation_p.I551V			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	563	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.I563V(1)|p.I551V(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TAGACAGACAATAGCTGAACA	0.378			T	BRAF	papillary thyroid								A|||	6	0.00119808	0.0038	0.0014	5008	,	,		19722	0.0		0.0	False		,,,				2504	0.0				p.I551V			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1651G	7						.	A	VAL/ILE,VAL/ILE	12,4394	17.9+/-39.9	0,12,2191	85.0	90.0	88.0		1651,1651	3.9	1.0	7	dbSNP_134	88	0,8594		0,0,4297	yes	missense,missense	AKAP9	NM_005751.4,NM_147185.2	29,29	0,12,6488	GG,GA,AA		0.0,0.2724,0.0923	benign,benign	551/3908,551/3900	91630882	12,12988	2203	4297	6500	91468818	SO:0001583	missense	10142	exon8			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.1687A>G	7.37:g.91630882A>G	ENSP00000351922:p.Ile563Val		91468818	NM_147185	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37		3	0.0013736263736263737	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	0	0.0	A	3.544	-0.093176	0.07053	0.002724	0.0	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.46819	0.86;0.86;0.86	5.1	3.94	0.45596	.	0.000000	0.47093	D	0.000257	T	0.39860	0.1094	L	0.47716	1.5	0.30171	N	0.8013	B;B;B;B	0.16802	0.0;0.0;0.001;0.019	B;B;B;B	0.17979	0.0;0.003;0.006;0.02	T	0.36212	-0.9757	10	0.33141	T	0.24	.	11.2268	0.48888	0.9279:0.0:0.0721:0.0	.	563;551;551;563	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	V	551;563;563;563;563	ENSP00000348573:I551V;ENSP00000351922:I563V;ENSP00000350813:I563V	ENSP00000348573:I551V	I	+	1	0	AKAP9	91468818	0.985000	0.35326	1.000000	0.80357	0.950000	0.60333	0.876000	0.28092	1.063000	0.40649	-0.274000	0.10170	ATA		0.378	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751	
KRIT1	889	broad.mit.edu	37	7	91865794	91865794	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:91865794G>A	ENST00000340022.2	-	7	1436	c.418C>T	c.(418-420)Cga>Tga	p.R140*	KRIT1_ENST00000394507.1_Nonsense_Mutation_p.R140*|KRIT1_ENST00000394505.2_Nonsense_Mutation_p.R140*|KRIT1_ENST00000394503.2_Nonsense_Mutation_p.R140*|KRIT1_ENST00000412043.2_Nonsense_Mutation_p.R140*	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	140	N-terminal domain similar to Nudix hydrolase domain.				angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)	p.R140*(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTACAGACTCGCATAATATCT	0.318																																					p.R140X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C418T	7						.						99.0	104.0	102.0					7																	91865794		2203	4299	6502	91703730	SO:0001587	stop_gained	889	exon7			AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"""Ankyrin repeat domain containing"""	1573	protein-coding gene	gene with protein product		604214	"""cerebral cavernous malformations 1"""	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.418C>T	7.37:g.91865794G>A	ENSP00000344668:p.Arg140*		91703730	NM_194455	A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Nonsense_Mutation	SNP	ENST00000340022.2	37	CCDS5624.1	.	.	.	.	.	.	.	.	.	.	G	38	7.271354	0.98179	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503;ENST00000415227;ENST00000458177;ENST00000433016;ENST00000454017	.	.	.	5.17	0.483	0.16820	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7004	15.7344	0.77831	0.0:0.0:0.2068:0.7932	.	.	.	.	X	140	.	ENSP00000344668:R140X	R	-	1	2	KRIT1	91703730	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	1.282000	0.33226	0.065000	0.16485	-0.238000	0.12139	CGA		0.318	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1		
SAMD9L	219285	broad.mit.edu	37	7	92764171	92764171	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:92764171A>G	ENST00000318238.4	-	5	2330	c.1114T>C	c.(1114-1116)Tca>Cca	p.S372P	SAMD9L_ENST00000411955.1_Missense_Mutation_p.S372P|SAMD9L_ENST00000437805.1_Missense_Mutation_p.S372P	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	372					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)		p.S372P(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GCTACCAGTGACTTTAAATTT	0.403																																					p.S372P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1114C	7						.						158.0	171.0	167.0					7																	92764171		2203	4300	6503	92602107	SO:0001583	missense	219285	exon5			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1114T>C	7.37:g.92764171A>G	ENSP00000326247:p.Ser372Pro		92602107	NM_152703	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	A	3.041	-0.197499	0.06259	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.16897	2.31;2.31;2.31	4.74	-3.67	0.04476	.	1.053560	0.07491	N	0.905718	T	0.13286	0.0322	L	0.40543	1.245	0.09310	N	1	P	0.46220	0.874	B	0.42422	0.387	T	0.33007	-0.9885	10	0.31617	T	0.26	-1.1463	7.377	0.26833	0.24:0.4282:0.0:0.3319	.	372	Q8IVG5	SAM9L_HUMAN	P	372	ENSP00000326247:S372P;ENSP00000405760:S372P;ENSP00000408796:S372P	ENSP00000326247:S372P	S	-	1	0	SAMD9L	92602107	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	-1.444000	0.02403	-0.338000	0.08413	0.377000	0.23210	TCA		0.403	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703	
COL1A2	1278	broad.mit.edu	37	7	94035015	94035015	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:94035015C>T	ENST00000297268.6	+	11	988	c.517C>T	c.(517-519)Ctt>Ttt	p.L173F		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	173					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.L173F(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	AACTCCTGGACTTCCTGGCTT	0.373										HNSCC(75;0.22)																											p.L173F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C517T	7						.						163.0	160.0	161.0					7																	94035015		2203	4299	6502	93872951	SO:0001583	missense	1278	exon11			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.517C>T	7.37:g.94035015C>T	ENSP00000297268:p.Leu173Phe		93872951	NM_000089	P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.304063	0.60305	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.93426	-3.22	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.94308	0.8171	L	0.52823	1.66	0.80722	D	1	B	0.31241	0.315	P	0.44696	0.458	D	0.92748	0.6213	10	0.46703	T	0.11	.	19.6446	0.95771	0.0:1.0:0.0:0.0	.	173	P08123	CO1A2_HUMAN	F	173;174	ENSP00000297268:L173F	ENSP00000297268:L173F	L	+	1	0	COL1A2	93872951	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.445000	0.80570	2.814000	0.96858	0.591000	0.81541	CTT		0.373	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089	
PPP1R9A	55607	broad.mit.edu	37	7	94827759	94827759	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:94827759A>C	ENST00000433881.1	+	6	2385	c.1853A>C	c.(1852-1854)gAa>gCa	p.E618A	PPP1R9A_ENST00000289495.5_Missense_Mutation_p.E618A|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.E618A|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.E618A|AC002429.5_ENST00000417881.2_RNA|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.E618A|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.E618A			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	618	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)		p.E618A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GAGCTGCTGGAACAGCACTAT	0.483										HNSCC(28;0.073)																											p.E618A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1853C	7						.						152.0	153.0	152.0					7																	94827759		2203	4300	6503	94665695	SO:0001583	missense	55607	exon5			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.1853A>C	7.37:g.94827759A>C	ENSP00000398870:p.Glu618Ala		94665695	NM_001166163	A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	A	18.54	3.645101	0.67358	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.18960	2.18;2.27;2.26;2.27;2.27;2.26	5.61	5.61	0.85477	.	0.048941	0.85682	D	0.000000	T	0.44519	0.1297	M	0.62723	1.935	0.58432	D	0.999999	P;D;D;D;D	0.76494	0.609;0.997;0.997;0.999;0.987	B;D;D;D;P	0.80764	0.253;0.96;0.968;0.994;0.719	T	0.26360	-1.0105	10	0.48119	T	0.1	.	16.1127	0.81273	1.0:0.0:0.0:0.0	.	618;618;618;618;618	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	A	618	ENSP00000405514:E618A;ENSP00000344524:E618A;ENSP00000411342:E618A;ENSP00000398870:E618A;ENSP00000289495:E618A;ENSP00000402893:E618A	ENSP00000289495:E618A	E	+	2	0	PPP1R9A	94665695	1.000000	0.71417	0.998000	0.56505	0.150000	0.21749	9.198000	0.94994	2.270000	0.75569	0.482000	0.46254	GAA		0.483	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160	
PPP1R9A	55607	broad.mit.edu	37	7	94917862	94917862	+	Silent	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:94917862A>T	ENST00000433881.1	+	15	3448	c.2916A>T	c.(2914-2916)ggA>ggT	p.G972G	PPP1R9A_ENST00000289495.5_Silent_p.G1170G|PPP1R9A_ENST00000433360.1_Silent_p.G1248G|PPP1R9A_ENST00000424654.1_Intron|PPP1R9A_ENST00000340694.4_Silent_p.G972G|PPP1R9A_ENST00000456331.2_Intron			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	972	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TTGATGATGGACAGTCTCCCA	0.418										HNSCC(28;0.073)																											p.G964G												.	.	0			c.A2892T	7						.						150.0	124.0	133.0					7																	94917862		2203	4300	6503	94755798	SO:0001819	synonymous_variant	55607	exon13			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.2916A>T	7.37:g.94917862A>T			94755798	NM_001166163	A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Silent	SNP	ENST00000433881.1	37	CCDS34683.1																																																																																				0.418	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160	
PON3	5446	broad.mit.edu	37	7	95001634	95001634	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:95001634C>T	ENST00000265627.5	-	4	228	c.218G>A	c.(217-219)gGc>gAc	p.G73D	PON1_ENST00000542556.1_Intron|PON3_ENST00000451904.1_Missense_Mutation_p.G73D|PON3_ENST00000427422.1_Missense_Mutation_p.G73D	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	73					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)	p.G73D(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	GTTTGGCATGCCTGGATATTT	0.348																																					p.G73D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G218A	7						.						105.0	100.0	101.0					7																	95001634		2203	4300	6503	94839570	SO:0001583	missense	5446	exon4			L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"""Paraoxonases"""	9206	protein-coding gene	gene with protein product	"""arylesterase 3"""	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.218G>A	7.37:g.95001634C>T	ENSP00000265627:p.Gly73Asp		94839570	NM_000940	A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Missense_Mutation	SNP	ENST00000265627.5	37	CCDS5639.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110186	0.77210	.	.	ENSG00000105852	ENST00000265627;ENST00000427422	T;T	0.47869	0.83;0.83	4.82	4.82	0.62117	Six-bladed beta-propeller, TolB-like (1);	0.110169	0.64402	D	0.000009	T	0.70211	0.3198	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.91635	0.999;0.882	T	0.72323	-0.4328	10	0.52906	T	0.07	-11.5445	18.0823	0.89444	0.0:1.0:0.0:0.0	.	121;73	B4E2I0;Q15166	.;PON3_HUMAN	D	73	ENSP00000265627:G73D;ENSP00000413276:G73D	ENSP00000265627:G73D	G	-	2	0	PON3	94839570	0.989000	0.36119	0.947000	0.38551	0.706000	0.40770	3.823000	0.55715	2.694000	0.91930	0.555000	0.69702	GGC		0.348	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333007.1	NM_000940	
TRRAP	8295	broad.mit.edu	37	7	98563390	98563390	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:98563390C>T	ENST00000359863.4	+	48	7236	c.7027C>T	c.(7027-7029)Cgg>Tgg	p.R2343W	TRRAP_ENST00000446306.3_Missense_Mutation_p.R2325W|TRRAP_ENST00000355540.3_Missense_Mutation_p.R2325W	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2343	Interaction with TP53.				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.R2325W(1)|p.R2343W(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)			CATGGAGATGCGGAAGAACTT	0.527																																					p.R2325W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C6973T	7						.						117.0	101.0	106.0					7																	98563390		2203	4300	6503	98401326	SO:0001583	missense	8295	exon47			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.7027C>T	7.37:g.98563390C>T	ENSP00000352925:p.Arg2343Trp		98401326	NM_003496	A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248109	0.80024	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.64991	-0.13;-0.13	6.02	-0.164	0.13359	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.78578	0.4305	M	0.80332	2.49	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.68483	0.958;0.915;0.946	T	0.82297	-0.0527	10	0.87932	D	0	.	18.6874	0.91570	0.303:0.697:0.0:0.0	.	2325;2064;2343	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	W	2343;2325;2324	ENSP00000352925:R2343W;ENSP00000347733:R2325W	ENSP00000347733:R2325W	R	+	1	2	TRRAP	98401326	1.000000	0.71417	0.991000	0.47740	0.996000	0.88848	3.210000	0.51129	-0.266000	0.09339	-0.262000	0.10625	CGG		0.527	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496	
ZKSCAN5	23660	broad.mit.edu	37	7	99128861	99128861	+	Silent	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:99128861C>A	ENST00000394170.2	+	7	1760	c.1509C>A	c.(1507-1509)ggC>ggA	p.G503G	ZKSCAN5_ENST00000326775.5_Silent_p.G503G|ZKSCAN5_ENST00000451158.1_Silent_p.G503G	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	503					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G503G(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TTGGAGAAGGCTGTGAGTTTC	0.383																																					p.G503G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1509A	7						.						114.0	122.0	119.0					7																	99128861		2203	4300	6503	98966797	SO:0001819	synonymous_variant	23660	exon7			AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.1509C>A	7.37:g.99128861C>A			98966797	NM_145102	A4D280|D6W5S9	Silent	SNP	ENST00000394170.2	37	CCDS5667.1																																																																																				0.383	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569	
AGFG2	3268	broad.mit.edu	37	7	100151819	100151819	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:100151819G>A	ENST00000300176.4	+	5	811	c.689G>A	c.(688-690)gGt>gAt	p.G230D	AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_Intron	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	230					regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.G230D(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCTGACATCGGTGGAGACCCC	0.592																																					p.G230D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G689A	7						.						89.0	77.0	81.0					7																	100151819		2203	4300	6503	99989755	SO:0001583	missense	3268	exon5			AF015042	CCDS5697.1	7q22.1	2008-09-22	2008-09-22	2008-09-22	ENSG00000106351	ENSG00000106351		"""ADP-ribosylation factor GTPase activating proteins"""	5177	protein-coding gene	gene with protein product		604019	"""HIV-1 Rev binding protein-like"""	HRBL		9799793	Standard	XM_005250306		Approved	RABR	uc003uvf.3	O95081	OTTHUMG00000156029	ENST00000300176.4:c.689G>A	7.37:g.100151819G>A	ENSP00000300176:p.Gly230Asp		99989755	NM_006076	O75429|Q96AB9|Q96GL4	Missense_Mutation	SNP	ENST00000300176.4	37	CCDS5697.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468110	0.84533	.	.	ENSG00000106351	ENST00000300176	T	0.26373	1.74	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.48241	0.1489	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.38499	-0.9658	10	0.41790	T	0.15	-32.2634	13.2485	0.60036	0.0:0.0:1.0:0.0	.	230	O95081	AGFG2_HUMAN	D	230	ENSP00000300176:G230D	ENSP00000300176:G230D	G	+	2	0	AGFG2	99989755	1.000000	0.71417	0.834000	0.33040	0.918000	0.54935	6.969000	0.76092	2.583000	0.87209	0.650000	0.86243	GGT		0.592	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342769.1	NM_006076	
ATP6V0A4	50617	broad.mit.edu	37	7	138432288	138432288	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:138432288delA	ENST00000310018.2	-	13	1484	c.1202delT	c.(1201-1203)ttcfs	p.F401fs	ATP6V0A4_ENST00000353492.4_Frame_Shift_Del_p.F401fs|ATP6V0A4_ENST00000393054.1_Frame_Shift_Del_p.F401fs	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	401					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)	p.F401fs*7(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CAGGAAGGGGAAAGTGATGAT	0.587																																					p.F401fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1202delT	7						.						99.0	78.0	85.0					7																	138432288		2203	4300	6503	138082828	SO:0001589	frameshift_variant	50617	exon12			AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.1202delT	7.37:g.138432288delA	ENSP00000308122:p.Phe401fs		138082828	NM_130840	A4D1R4|A8KA80|Q32M47	Frame_Shift_Del	DEL	ENST00000310018.2	37	CCDS5849.1																																																																																				0.587	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632	
OR2A14	135941	broad.mit.edu	37	7	143826586	143826586	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:143826586delC	ENST00000408899.2	+	1	436	c.381delC	c.(379-381)cacfs	p.H127fs		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L129fs*7(1)		large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					ACATCTGCCACCCCTTACGTT	0.498																																					p.H127fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.381delC	7						.						205.0	207.0	206.0					7																	143826586		2155	4262	6417	143457519	SO:0001589	frameshift_variant	135941	exon1				CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"""GPCR / Class A : Olfactory receptors"""	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.381delC	7.37:g.143826586delC	ENSP00000386137:p.His127fs		143457519	NM_001001659	Q6IF41|Q8NGT8	Frame_Shift_Del	DEL	ENST00000408899.2	37	CCDS43672.1																																																																																				0.498	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1		
WDR60	55112	broad.mit.edu	37	7	158734631	158734631	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr7:158734631G>A	ENST00000407559.3	+	24	2952	c.2794G>A	c.(2794-2796)Gga>Aga	p.G932R		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	932					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.G932R(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		CTGTTCGGACGGAAGCATCAG	0.602																																					p.G932R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2794A	7						.						17.0	20.0	19.0					7																	158734631		2063	4207	6270	158427392	SO:0001583	missense	55112	exon24				CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.2794G>A	7.37:g.158734631G>A	ENSP00000384290:p.Gly932Arg		158427392	NM_018051	Q9NW58	Missense_Mutation	SNP	ENST00000407559.3	37	CCDS47757.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121212	0.56613	.	.	ENSG00000126870	ENST00000407559	T	0.74106	-0.81	5.33	5.33	0.75918	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.86740	0.6005	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88106	0.2822	10	0.72032	D	0.01	-41.1112	18.013	0.89230	0.0:0.0:1.0:0.0	.	415;932	A4D230;Q8WVS4	.;WDR60_HUMAN	R	932	ENSP00000384290:G932R	ENSP00000384290:G932R	G	+	1	0	WDR60	158427392	1.000000	0.71417	0.345000	0.25642	0.006000	0.05464	7.916000	0.87491	2.503000	0.84419	0.561000	0.74099	GGA		0.602	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051	
ANK1	286	broad.mit.edu	37	8	41572578	41572579	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	-	-	-	G	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:41572578_41572579insG	ENST00000347528.4	-	15	1699_1700	c.1616_1617insC	c.(1615-1617)cctfs	p.P539fs	ANK1_ENST00000396945.1_Frame_Shift_Ins_p.P539fs|ANK1_ENST00000265709.8_Frame_Shift_Ins_p.P572fs|ANK1_ENST00000289734.7_Frame_Shift_Ins_p.P539fs|ANK1_ENST00000396942.1_Frame_Shift_Ins_p.P539fs|ANK1_ENST00000379758.2_Frame_Shift_Ins_p.P539fs|ANK1_ENST00000352337.4_Frame_Shift_Ins_p.P539fs	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	539	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.L540fs*81(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCACGTGCAGAGGGGTAAATCC	0.624																																					p.P539fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1617_1618insC	8						.																																			41691736	SO:0001589	frameshift_variant	286	exon15			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.1617dupC	8.37:g.41572582_41572582dupG	ENSP00000339620:p.Pro539fs		41691735	NM_020475	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Frame_Shift_Ins	INS	ENST00000347528.4	37	CCDS6119.1																																																																																				0.624	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475	
VPS13B	157680	broad.mit.edu	37	8	100493895	100493895	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:100493895T>A	ENST00000358544.2	+	25	3846	c.3735T>A	c.(3733-3735)aaT>aaA	p.N1245K	VPS13B_ENST00000395996.1_Missense_Mutation_p.N1245K|VPS13B_ENST00000357162.2_Missense_Mutation_p.N1245K	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1245					protein transport (GO:0015031)			p.N1245K(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGAGAGGCAATCTCAACCTAT	0.438																																					p.N1245K	Colon(161;2205 2542 7338 31318)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T3735A	8						.						152.0	148.0	149.0					8																	100493895		2203	4300	6503	100563071	SO:0001583	missense	157680	exon25			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.3735T>A	8.37:g.100493895T>A	ENSP00000351346:p.Asn1245Lys		100563071	NM_152564	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	T	0.013	-1.624833	0.00820	.	.	ENSG00000132549	ENST00000357162;ENST00000358544;ENST00000395996	T;T;T	0.40225	1.04;1.04;1.04	5.08	2.6	0.31112	.	0.392001	0.26146	N	0.026076	T	0.25680	0.0625	N	0.22421	0.69	0.27658	N	0.947167	B;B;B;B	0.27853	0.004;0.043;0.02;0.191	B;B;B;B	0.23419	0.019;0.033;0.006;0.046	T	0.12066	-1.0562	10	0.38643	T	0.18	.	8.5454	0.33417	0.0:0.1716:0.0:0.8284	.	1244;1245;1245;1245	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3	.;.;VP13B_HUMAN;.	K	1245	ENSP00000349685:N1245K;ENSP00000351346:N1245K;ENSP00000379318:N1245K	ENSP00000349685:N1245K	N	+	3	2	VPS13B	100563071	0.997000	0.39634	0.082000	0.20525	0.018000	0.09664	0.859000	0.27858	0.244000	0.21351	0.533000	0.62120	AAT		0.438	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042	
VPS13B	157680	broad.mit.edu	37	8	100533170	100533170	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:100533170C>T	ENST00000358544.2	+	30	4863	c.4752C>T	c.(4750-4752)ggC>ggT	p.G1584G	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.G1559G	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1584					protein transport (GO:0015031)			p.G1559G(1)|p.G1584G(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGAAGATTGGCTCTGTTGCCA	0.408																																					p.G1559G	Colon(161;2205 2542 7338 31318)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C4677T	8						.						150.0	135.0	140.0					8																	100533170		2203	4300	6503	100602346	SO:0001819	synonymous_variant	157680	exon30			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.4752C>T	8.37:g.100533170C>T			100602346	NM_152564	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	6.741	0.505540	0.12822	.	.	ENSG00000132549	ENST00000521559	.	.	.	5.65	3.87	0.44632	.	.	.	.	.	T	0.46908	0.1417	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38265	-0.9669	4	.	.	.	.	3.1667	0.06538	0.1236:0.5511:0.1197:0.2057	.	.	.	.	V	15	.	.	A	+	2	0	VPS13B	100602346	0.962000	0.33011	1.000000	0.80357	0.995000	0.86356	0.075000	0.14686	0.735000	0.32537	0.557000	0.71058	GCT		0.408	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042	
DPYS	1807	broad.mit.edu	37	8	105436552	105436552	+	Missense_Mutation	SNP	A	A	T	rs367990408		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:105436552A>T	ENST00000351513.2	-	7	1290	c.1158T>A	c.(1156-1158)ttT>ttA	p.F386L	AP003471.2_ENST00000410226.1_RNA	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	386					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)	p.F386L(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GATAGAGATTAAAAATTTTGG	0.363																																					p.F386L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1158A	8						.						148.0	146.0	147.0					8																	105436552		2203	4300	6503	105505728	SO:0001583	missense	1807	exon7			D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1158T>A	8.37:g.105436552A>T	ENSP00000276651:p.Phe386Leu		105505728	NM_001385		Missense_Mutation	SNP	ENST00000351513.2	37	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.976305	0.74360	.	.	ENSG00000147647	ENST00000351513	T	0.77098	-1.07	5.98	2.32	0.28847	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	T	0.82148	0.4974	L	0.57130	1.785	0.50039	D	0.999845	D	0.89917	1.0	D	0.97110	1.0	T	0.77075	-0.2722	10	0.23891	T	0.37	-15.2916	8.9414	0.35731	0.73:0.0:0.27:0.0	.	386	Q14117	DPYS_HUMAN	L	386	ENSP00000276651:F386L	ENSP00000276651:F386L	F	-	3	2	DPYS	105505728	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.287000	0.43505	0.532000	0.28657	0.533000	0.62120	TTT		0.363	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385	
ZFPM2	23414	broad.mit.edu	37	8	106814110	106814110	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:106814110C>T	ENST00000407775.2	+	8	2050	c.1800C>T	c.(1798-1800)ggC>ggT	p.G600G	ZFPM2_ENST00000517361.1_Silent_p.G468G|ZFPM2_ENST00000378472.4_Silent_p.G331G|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.G468G|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	600					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.G600G(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CCAACACTGGCCAAACCTCCA	0.463																																					p.G600G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1800T	8						.						115.0	115.0	115.0					8																	106814110		1951	4161	6112	106883286	SO:0001819	synonymous_variant	23414	exon8			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1800C>T	8.37:g.106814110C>T			106883286	NM_012082	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	ENST00000407775.2	37	CCDS47908.1																																																																																				0.463	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1		
EMC2	9694	broad.mit.edu	37	8	109462704	109462704	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:109462704C>G	ENST00000220853.3	+	3	237	c.202C>G	c.(202-204)Cgg>Ggg	p.R68G		NM_014673.3	NP_055488.1	Q15006	EMC2_HUMAN	ER membrane protein complex subunit 2	68						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|ER membrane protein complex (GO:0072546)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.R68G(1)									AGACTATGGTCGGGATGACTT	0.323																																					p.R68G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C202G	8						.						197.0	193.0	194.0					8																	109462704		2203	4300	6503	109531880	SO:0001583	missense	9694	exon3			BC021667	CCDS6309.1	8q23.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000104412	ENSG00000104412			28963	protein-coding gene	gene with protein product		607722	"""tetratricopeptide repeat domain 35"""	KIAA0103, TTC35		7788527, 22119785	Standard	NM_014673		Approved		uc003ymw.1	Q15006	OTTHUMG00000164873	ENST00000220853.3:c.202C>G	8.37:g.109462704C>G	ENSP00000220853:p.Arg68Gly		109531880	NM_014673	Q8WUE1	Missense_Mutation	SNP	ENST00000220853.3	37	CCDS6309.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.396698	0.62177	.	.	ENSG00000104412	ENST00000524143;ENST00000220853	T	0.22945	1.93	5.86	4.98	0.66077	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.34308	0.0893	M	0.83223	2.63	0.80722	D	1	P	0.48694	0.914	B	0.40228	0.323	T	0.43048	-0.9415	10	0.56958	D	0.05	-6.6382	14.2096	0.65755	0.2723:0.7277:0.0:0.0	.	68	Q15006	TTC35_HUMAN	G	69;68	ENSP00000430122:R69G	ENSP00000220853:R68G	R	+	1	2	TTC35	109531880	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.438000	0.59961	1.586000	0.49944	0.650000	0.86243	CGG		0.323	EMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380717.1	NM_014673	
PKHD1L1	93035	broad.mit.edu	37	8	110394759	110394759	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:110394759A>G	ENST00000378402.5	+	4	480	c.376A>G	c.(376-378)Acc>Gcc	p.T126A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	126	IPT/TIG 1.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.T126A(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGAAAATAACACCTGCAAAGG	0.408										HNSCC(38;0.096)																											p.T126A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A376G	8						.						130.0	129.0	129.0					8																	110394759		1953	4154	6107	110463935	SO:0001583	missense	93035	exon4			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.376A>G	8.37:g.110394759A>G	ENSP00000367655:p.Thr126Ala		110463935	NM_177531	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	A	12.84	2.057789	0.36277	.	.	ENSG00000205038	ENST00000378402	D	0.85629	-2.01	5.94	5.94	0.96194	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);	0.380103	0.27306	N	0.019979	T	0.75961	0.3921	N	0.22421	0.69	0.22280	N	0.999235	B	0.15930	0.015	B	0.15484	0.013	T	0.59867	-0.7373	10	0.20046	T	0.44	.	14.3596	0.66761	1.0:0.0:0.0:0.0	.	126	Q86WI1	PKHL1_HUMAN	A	126	ENSP00000367655:T126A	ENSP00000367655:T126A	T	+	1	0	PKHD1L1	110463935	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.348000	0.52209	2.275000	0.75901	0.528000	0.53228	ACC		0.408	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	
CSMD3	114788	broad.mit.edu	37	8	113421170	113421170	+	Silent	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:113421170A>T	ENST00000297405.5	-	33	5731	c.5487T>A	c.(5485-5487)tcT>tcA	p.S1829S	CSMD3_ENST00000343508.3_Silent_p.S1789S|CSMD3_ENST00000455883.2_Silent_p.S1725S|CSMD3_ENST00000352409.3_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1829	CUB 10. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S1829S(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGAGAGGGAAGATAACAGAG	0.408										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.S1829S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T5487A	8						.						177.0	170.0	172.0					8																	113421170		2203	4300	6503	113490346	SO:0001819	synonymous_variant	114788	exon33			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5487T>A	8.37:g.113421170A>T			113490346	NM_198123	Q96PZ3	Silent	SNP	ENST00000297405.5	37	CCDS6315.1																																																																																				0.408	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
CSMD3	114788	broad.mit.edu	37	8	113504870	113504870	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:113504870T>C	ENST00000297405.5	-	31	5370	c.5126A>G	c.(5125-5127)aAt>aGt	p.N1709S	CSMD3_ENST00000343508.3_Missense_Mutation_p.N1669S|CSMD3_ENST00000455883.2_Missense_Mutation_p.N1605S|CSMD3_ENST00000352409.3_Missense_Mutation_p.N1709S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1709	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.N1709S(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCTGGTGCCATTCATTATATT	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.N1709S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5126G	8						.						157.0	142.0	147.0					8																	113504870		2203	4300	6503	113574046	SO:0001583	missense	114788	exon31			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5126A>G	8.37:g.113504870T>C	ENSP00000297405:p.Asn1709Ser		113574046	NM_198123	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.301580	0.81136	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13	4.9	4.9	0.64082	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.82751	0.5105	M	0.91663	3.23	0.38466	D	0.947345	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.995;0.997;0.999	D	0.87681	0.2547	10	0.59425	D	0.04	.	14.9773	0.71283	0.0:0.0:0.0:1.0	.	1605;1709;1669	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	S	1669;1709;1049;1605;1709	ENSP00000345799:N1669S;ENSP00000297405:N1709S;ENSP00000341558:N1049S;ENSP00000412263:N1605S;ENSP00000343124:N1709S	ENSP00000297405:N1709S	N	-	2	0	CSMD3	113574046	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.706000	0.84615	2.184000	0.69523	0.477000	0.44152	AAT		0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
CSMD3	114788	broad.mit.edu	37	8	113649219	113649219	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:113649219G>C	ENST00000297405.5	-	22	3786	c.3542C>G	c.(3541-3543)cCt>cGt	p.P1181R	CSMD3_ENST00000343508.3_Missense_Mutation_p.P1141R|CSMD3_ENST00000455883.2_Missense_Mutation_p.P1077R|CSMD3_ENST00000352409.3_Missense_Mutation_p.P1181R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1181	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P1181R(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATCTTCACAAGGTTCAAGGTT	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.P1181R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3542G	8						.						146.0	136.0	139.0					8																	113649219		2203	4300	6503	113718395	SO:0001583	missense	114788	exon22			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3542C>G	8.37:g.113649219G>C	ENSP00000297405:p.Pro1181Arg		113718395	NM_198123	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215485	0.79352	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.26223	2.06;2.08;2.1;1.75;2.05	5.56	5.56	0.83823	Complement control module (1);Sushi/SCR/CCP (1);	0.000000	0.64402	D	0.000001	T	0.43166	0.1235	L	0.41906	1.305	0.52099	D	0.999949	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.05716	-1.0868	10	0.20046	T	0.44	.	19.5386	0.95266	0.0:0.0:1.0:0.0	.	1077;1181;1141	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	R	1141;1181;521;1077;1181	ENSP00000345799:P1141R;ENSP00000297405:P1181R;ENSP00000341558:P521R;ENSP00000412263:P1077R;ENSP00000343124:P1181R	ENSP00000297405:P1181R	P	-	2	0	CSMD3	113718395	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.610000	0.88304	0.650000	0.86243	CCT		0.413	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
TRPS1	7227	broad.mit.edu	37	8	116426985	116426985	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:116426985G>T	ENST00000220888.5	-	6	3271	c.3112C>A	c.(3112-3114)Cag>Aag	p.Q1038K	TRPS1_ENST00000519076.1_Missense_Mutation_p.Q792K|TRPS1_ENST00000520276.1_Missense_Mutation_p.Q1042K|TRPS1_ENST00000395715.3_Missense_Mutation_p.Q1051K			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1038	Mediates interaction with RNF4. {ECO:0000250}.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.Q1038K(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CTTTTTATCTGAATGTGCAAA	0.448									Langer-Giedion syndrome																												p.Q1051K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3151A	8						.						141.0	133.0	136.0					8																	116426985		1889	4117	6006	116496161	SO:0001583	missense	7227	exon7	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.3112C>A	8.37:g.116426985G>T	ENSP00000220888:p.Gln1038Lys		116496161	NM_014112	B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.35|18.35	3.604303|3.604303	0.66445|0.66445	.|.	.|.	ENSG00000104447|ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276|ENST00000518018	D;D;D;D|.	0.98437|.	-4.93;-4.9;-4.87;-4.9|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.129774|.	0.56097|.	D|.	0.000037|.	T|.	0.51890|.	0.1701|.	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	P;P;P|.	0.46220|.	0.874;0.801;0.874|.	B;B;B|.	0.44163|.	0.443;0.258;0.443|.	T|.	0.46005|.	-0.9222|.	10|.	0.66056|.	D|.	0.02|.	.|.	19.6491|19.6491	0.95794|0.95794	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1042;1038;1051|.	Q9UHF7-3;Q9UHF7;Q9UHF7-2|.	.;TRPS1_HUMAN;.|.	K|X	1051;1038;792;1042|162	ENSP00000379065:Q1051K;ENSP00000220888:Q1038K;ENSP00000428910:Q792K;ENSP00000428680:Q1042K|.	ENSP00000220888:Q1038K|.	Q|S	-|-	1|2	0|0	TRPS1|TRPS1	116496161|116496161	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.183000|9.183000	0.94887|0.94887	2.638000|2.638000	0.89438|0.89438	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.448	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112	
EIF3H	8667	broad.mit.edu	37	8	117658825	117658825	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:117658825C>T	ENST00000276682.4	-	9	1654	c.888G>A	c.(886-888)caG>caA	p.Q296Q	EIF3H_ENST00000521861.1_Silent_p.Q282Q					eukaryotic translation initiation factor 3, subunit H									p.Q282Q(1)		large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					TATTCTCCTGCTGGCGACGCT	0.517																																					p.Q282Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G846A	8						.						131.0	139.0	136.0					8																	117658825		2203	4300	6503	117728006	SO:0001819	synonymous_variant	8667	exon7			U54559	CCDS6319.1	8q24.11	2007-07-27	2007-07-27	2007-07-27	ENSG00000147677	ENSG00000147677			3273	protein-coding gene	gene with protein product		603912	"""eukaryotic translation initiation factor 3, subunit 3 gamma, 40kDa"""	EIF3S3		9341143	Standard	NM_003756		Approved	eIF3-gamma, eIF3-p40, eIF3h	uc003yoa.3	O15372	OTTHUMG00000164919	ENST00000276682.4:c.888G>A	8.37:g.117658825C>T			117728006	NM_003756		Silent	SNP	ENST00000276682.4	37																																																																																					0.517	EIF3H-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000380913.1	NM_003756	
EXT1	2131	broad.mit.edu	37	8	119122834	119122834	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:119122834G>A	ENST00000378204.2	-	1	1258	c.452C>T	c.(451-453)gCg>gTg	p.A151V		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	151					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)	p.A151V(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			AAAGAGGCACGCCTGGCTGGG	0.507			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																												p.A151V		yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	multiple exostoses type 1 gene		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C452T	8						.						93.0	107.0	102.0					8																	119122834		2203	4300	6503	119192015	SO:0001583	missense	2131	exon1	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.452C>T	8.37:g.119122834G>A	ENSP00000367446:p.Ala151Val		119192015	NM_000127	B2R7V2|Q9BVI9	Missense_Mutation	SNP	ENST00000378204.2	37	CCDS6324.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498640	0.85069	.	.	ENSG00000182197	ENST00000378204	D	0.99748	-6.62	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96825	0.9607	10	0.87932	D	0	0.3531	19.3217	0.94243	0.0:0.0:1.0:0.0	.	151	Q16394	EXT1_HUMAN	V	151	ENSP00000367446:A151V	ENSP00000367446:A151V	A	-	2	0	EXT1	119192015	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.727000	0.98787	2.558000	0.86282	0.462000	0.41574	GCG		0.507	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127	
USP17L2	377630	broad.mit.edu	37	8	11994748	11994748	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:11994748G>C	ENST00000333796.3	-	1	1838	c.1522C>G	c.(1522-1524)Ctg>Gtg	p.L508V	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	508	Mediates interaction with SUDS3.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.L508V(1)		central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						CTCCCTTGCAGAGAAGCGAGG	0.542																																					p.L508V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1522G	8						.						70.0	79.0	76.0					8																	11994748		1427	2989	4416	12032157	SO:0001583	missense	377630	exon1			BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.1522C>G	8.37:g.11994748G>C	ENSP00000333329:p.Leu508Val		12032157	NM_201402		Missense_Mutation	SNP	ENST00000333796.3	37	CCDS43713.1	.	.	.	.	.	.	.	.	.	.	G	0.272	-0.991918	0.02162	.	.	ENSG00000223443	ENST00000333796	T	0.11604	2.76	0.418	0.418	0.16429	.	3.818040	0.01206	N	0.007710	T	0.07458	0.0188	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.31530	-0.9940	9	0.11794	T	0.64	.	.	.	.	.	508	Q6R6M4	U17L2_HUMAN	V	508	ENSP00000333329:L508V	ENSP00000333329:L508V	L	-	1	2	USP17L2	12032157	0.002000	0.14202	0.010000	0.14722	0.009000	0.06853	0.527000	0.22987	0.476000	0.27440	0.479000	0.44913	CTG		0.542	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402	
COLEC10	10584	broad.mit.edu	37	8	120118083	120118083	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:120118083G>A	ENST00000332843.2	+	6	528	c.487G>A	c.(487-489)Gtg>Atg	p.V163M		NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	163	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	mannose binding (GO:0005537)	p.V163M(2)		endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			CTACTACATCGTGCAGGAAGA	0.463																																					p.V163M												.	.	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	c.G487A	8						.						76.0	59.0	64.0					8																	120118083		2203	4300	6503	120187264	SO:0001583	missense	10584	exon6			AB002631	CCDS6327.1	8q23-q24.1	2007-12-19				ENSG00000184374		"""Collectins"""	2220	protein-coding gene	gene with protein product		607620				10224141	Standard	NM_006438		Approved	CL-L1	uc003yoo.3	Q9Y6Z7		ENST00000332843.2:c.487G>A	8.37:g.120118083G>A	ENSP00000332723:p.Val163Met		120187264	NM_006438	Q3SYH6|Q6UW19	Missense_Mutation	SNP	ENST00000332843.2	37	CCDS6327.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.823101	0.90873	.	.	ENSG00000184374	ENST00000332843	T	0.19250	2.16	5.39	5.39	0.77823	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.000000	0.85682	D	0.000000	T	0.46795	0.1411	M	0.69185	2.1	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.16041	-1.0416	10	0.33940	T	0.23	-19.6273	19.5182	0.95174	0.0:0.0:1.0:0.0	.	163	Q9Y6Z7	COL10_HUMAN	M	163	ENSP00000332723:V163M	ENSP00000332723:V163M	V	+	1	0	COLEC10	120187264	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.622000	0.98378	2.692000	0.91855	0.555000	0.69702	GTG		0.463	COLEC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381225.1		
ATAD2	29028	broad.mit.edu	37	8	124349923	124349923	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:124349923T>C	ENST00000287394.5	-	21	3100	c.2993A>G	c.(2992-2994)cAt>cGt	p.H998R	ATAD2_ENST00000521903.1_Missense_Mutation_p.H316R	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	998					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.H998R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			AGCAAGCCTATGTGTAACATT	0.388																																					p.H998R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2993G	8						.						189.0	173.0	178.0					8																	124349923		2203	4300	6503	124419104	SO:0001583	missense	29028	exon21			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.2993A>G	8.37:g.124349923T>C	ENSP00000287394:p.His998Arg		124419104	NM_014109	Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	T	17.92	3.507761	0.64410	.	.	ENSG00000156802	ENST00000287394;ENST00000521903	T;T	0.17213	2.29;2.29	5.58	5.58	0.84498	Bromodomain (3);	0.135286	0.64402	D	0.000003	T	0.10380	0.0254	N	0.05574	-0.02	0.45733	D	0.998632	P	0.45348	0.856	B	0.40165	0.321	T	0.26849	-1.0091	10	0.29301	T	0.29	-21.3175	16.0507	0.80760	0.0:0.0:0.0:1.0	.	998	Q6PL18	ATAD2_HUMAN	R	998;316	ENSP00000287394:H998R;ENSP00000429213:H316R	ENSP00000287394:H998R	H	-	2	0	ATAD2	124419104	1.000000	0.71417	0.998000	0.56505	0.397000	0.30659	7.930000	0.87610	2.243000	0.73865	0.528000	0.53228	CAT		0.388	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109	
TRIB1	10221	broad.mit.edu	37	8	126448517	126448517	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:126448517C>T	ENST00000519576.1	+	2	493	c.230C>T	c.(229-231)tCc>tTc	p.S77F	TRIB1_ENST00000311922.3_Missense_Mutation_p.S308F|TRIB1_ENST00000520847.1_Missense_Mutation_p.S142F					tribbles pseudokinase 1									p.S308F(2)		NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			GAGCACATTTCCCCCAAAGCC	0.572																																					p.S308F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C923T	8						.						108.0	104.0	106.0					8																	126448517		2203	4300	6503	126517699	SO:0001583	missense	10221	exon3			AF205437	CCDS6357.1, CCDS64971.1	8q24.13	2013-10-03	2013-10-03			ENSG00000173334			16891	protein-coding gene	gene with protein product		609461	"""tribbles homolog 1 (Drosophila)"""			9342215, 16715410	Standard	NM_001282985		Approved	C8FW, GIG2, TRB1	uc003yrx.3	Q96RU8		ENST00000519576.1:c.230C>T	8.37:g.126448517C>T	ENSP00000428879:p.Ser77Phe		126517699	NM_025195		Missense_Mutation	SNP	ENST00000519576.1	37		.	.	.	.	.	.	.	.	.	.	C	29.2	4.987452	0.93106	.	.	ENSG00000173334	ENST00000311922;ENST00000520847;ENST00000519576	T;T;T	0.79033	-1.23;-1.23;1.43	5.77	5.77	0.91146	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.33040	U	0.005351	D	0.92883	0.7736	H	0.97682	4.055	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.94827	0.7992	10	0.87932	D	0	-30.7094	19.6087	0.95589	0.0:1.0:0.0:0.0	.	308	Q96RU8	TRIB1_HUMAN	F	308;142;77	ENSP00000312150:S308F;ENSP00000429063:S142F;ENSP00000428879:S77F	ENSP00000312150:S308F	S	+	2	0	TRIB1	126517699	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.770000	0.85390	2.724000	0.93272	0.561000	0.74099	TCC		0.572	TRIB1-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000381433.1	NM_025195	
DLC1	10395	broad.mit.edu	37	8	13356904	13356904	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:13356904A>C	ENST00000276297.4	-	2	1086	c.677T>G	c.(676-678)cTt>cGt	p.L226R	DLC1_ENST00000511869.1_Missense_Mutation_p.L226R|DLC1_ENST00000316609.5_Missense_Mutation_p.L226R	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	226					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.L226R(2)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AGCAGAGTTAAGCAATTGTTT	0.378																																					p.L226R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T677G	8						.						157.0	154.0	155.0					8																	13356904		2203	4300	6503	13401275	SO:0001583	missense	10395	exon2			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.677T>G	8.37:g.13356904A>C	ENSP00000276297:p.Leu226Arg		13401275	NM_182643	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	A	17.46	3.394003	0.62066	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.18016	3.2;2.24;2.26	4.84	4.84	0.62591	.	0.220622	0.23194	N	0.050880	T	0.32224	0.0822	L	0.52573	1.65	0.32215	N	0.57598	D;D;P	0.89917	0.979;1.0;0.567	P;D;B	0.65874	0.875;0.939;0.332	T	0.37619	-0.9698	10	0.87932	D	0	.	10.7626	0.46274	0.858:0.0:0.0:0.142	.	226;226;226	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	R	226	ENSP00000276297:L226R;ENSP00000321034:L226R;ENSP00000425878:L226R	ENSP00000276297:L226R	L	-	2	0	DLC1	13401275	1.000000	0.71417	0.973000	0.42090	0.861000	0.49209	2.682000	0.46934	2.147000	0.66899	0.533000	0.62120	CTT		0.378	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094	
OC90	729330	broad.mit.edu	37	8	133044151	133044151	+	Silent	SNP	G	G	A	rs201657644	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:133044151G>A	ENST00000443356.2	-	13	1142	c.1056C>T	c.(1054-1056)ggC>ggT	p.G352G	OC90_ENST00000262283.5_Silent_p.G548G|OC90_ENST00000603859.1_Silent_p.G336G|OC90_ENST00000254627.3_Silent_p.G336G			Q02509	OC90_HUMAN	otoconin 90	352	Phospholipase A2-like 2.				lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CCCTTGGCTCGCCTCTTCCTT	0.552																																					p.G336G												.	.	0			c.C1008T	8						.						54.0	58.0	57.0					8																	133044151		2039	4204	6243	133113333	SO:0001819	synonymous_variant	729330	exon12			Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.1056C>T	8.37:g.133044151G>A			133113333	NM_001080399	B4DNG8	Silent	SNP	ENST00000443356.2	37																																																																																					0.552	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399	
FAM135B	51059	broad.mit.edu	37	8	139144986	139144986	+	Missense_Mutation	SNP	C	C	A	rs201744533		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:139144986C>A	ENST00000395297.1	-	20	4241	c.4071G>T	c.(4069-4071)aaG>aaT	p.K1357N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1357								p.K1357N(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AAGTGCAGTCCTTGGCTTCAA	0.537										HNSCC(54;0.14)																											p.K1357N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4071T	8						.						235.0	243.0	240.0					8																	139144986		1982	4163	6145	139214168	SO:0001583	missense	51059	exon20			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.4071G>T	8.37:g.139144986C>A	ENSP00000378710:p.Lys1357Asn		139214168	NM_015912	B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	19.18	3.778329	0.70107	.	.	ENSG00000147724	ENST00000395297	T	0.17691	2.26	5.74	3.0	0.34707	.	0.056757	0.64402	D	0.000002	T	0.30355	0.0762	L	0.48986	1.54	0.43255	D	0.995188	D	0.76494	0.999	D	0.66084	0.941	T	0.00768	-1.1574	10	0.52906	T	0.07	-29.2977	9.8146	0.40844	0.0:0.7147:0.0:0.2853	.	1357	Q49AJ0	F135B_HUMAN	N	1357	ENSP00000378710:K1357N	ENSP00000378710:K1357N	K	-	3	2	FAM135B	139214168	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.396000	0.34531	0.370000	0.24538	0.655000	0.94253	AAG		0.537	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912	
FAM135B	51059	broad.mit.edu	37	8	139163933	139163933	+	Missense_Mutation	SNP	G	G	A	rs371082087		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:139163933G>A	ENST00000395297.1	-	13	2955	c.2785C>T	c.(2785-2787)Ctc>Ttc	p.L929F		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	929								p.L929F(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGTTGAGAGAGACCCTCAACC	0.502										HNSCC(54;0.14)																											p.L929F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2785T	8						.	G	PHE/LEU	1,4405	2.1+/-5.4	0,1,2202	136.0	123.0	128.0		2785	-10.9	0.0	8		128	0,8600		0,0,4300	no	missense	FAM135B	NM_015912.3	22	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	929/1407	139163933	1,13005	2203	4300	6503	139233115	SO:0001583	missense	51059	exon13			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2785C>T	8.37:g.139163933G>A	ENSP00000378710:p.Leu929Phe		139233115	NM_015912	B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	4.560	0.104044	0.08731	2.27E-4	0.0	ENSG00000147724	ENST00000395297	T	0.15603	2.41	5.45	-10.9	0.00192	.	2.776600	0.00870	N	0.002011	T	0.04363	0.0120	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.21211	-1.0252	10	0.09338	T	0.73	0.3417	3.6048	0.08038	0.2169:0.2886:0.3874:0.1071	.	929;929;929	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	F	929	ENSP00000378710:L929F	ENSP00000276737:L929F	L	-	1	0	FAM135B	139233115	0.000000	0.05858	0.000000	0.03702	0.211000	0.24417	-1.398000	0.02509	-3.515000	0.00149	-1.194000	0.01681	CTC		0.502	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912	
AGO2	27161	broad.mit.edu	37	8	141568638	141568638	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:141568638A>G	ENST00000220592.5	-	7	936	c.824T>C	c.(823-825)aTg>aCg	p.M275T	AGO2_ENST00000519980.1_Missense_Mutation_p.M275T	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	275	PAZ. {ECO:0000255|HAMAP-Rule:MF_03031}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)	p.M275T(1)									CTTCCTCTTCATCTGCCCACA	0.612																																					p.M275T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T824C	8						.						143.0	128.0	133.0					8																	141568638		2203	4300	6503	141637820	SO:0001583	missense	27161	exon7			AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.824T>C	8.37:g.141568638A>G	ENSP00000220592:p.Met275Thr		141637820	NM_001164623	Q8TCZ5|Q8WV58|Q96ID1	Missense_Mutation	SNP	ENST00000220592.5	37	CCDS6380.1	.	.	.	.	.	.	.	.	.	.	A	16.24	3.066947	0.55539	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	T;T	0.13196	2.61;2.61	4.82	4.82	0.62117	Argonaute/Dicer protein, PAZ (4);	0.074678	0.85682	D	0.000000	T	0.19208	0.0461	M	0.68593	2.085	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.19391	0.014;0.025	T	0.02326	-1.1176	10	0.52906	T	0.07	-6.4662	14.7301	0.69374	1.0:0.0:0.0:0.0	.	275;275	Q9UKV8-2;Q9UKV8	.;AGO2_HUMAN	T	275	ENSP00000220592:M275T;ENSP00000430176:M275T	ENSP00000220592:M275T	M	-	2	0	EIF2C2	141637820	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.199000	0.95003	1.936000	0.56123	0.529000	0.55759	ATG		0.612	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4		
DENND3	22898	broad.mit.edu	37	8	142185482	142185482	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:142185482T>C	ENST00000262585.2	+	14	2497	c.2219T>C	c.(2218-2220)aTg>aCg	p.M740T	DENND3_ENST00000519811.1_Missense_Mutation_p.M820T|DENND3_ENST00000424248.1_Missense_Mutation_p.M688T	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	740					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.M740T(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			AAGATCGCCATGACCCAGAAG	0.527											OREG0019025	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.M740T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2219C	8						.						128.0	115.0	119.0					8																	142185482		2203	4300	6503	142254664	SO:0001583	missense	22898	exon14			AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.2219T>C	8.37:g.142185482T>C	ENSP00000262585:p.Met740Thr	1669	142254664	NM_014957	B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	CCDS34947.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.327541	0.81690	.	.	ENSG00000105339	ENST00000262585;ENST00000424248;ENST00000519811	T;T;T	0.18502	2.67;2.21;2.65	4.94	4.94	0.65067	.	0.036511	0.85682	D	0.000000	T	0.40171	0.1106	M	0.74881	2.28	0.58432	D	0.999996	D;D;D	0.71674	0.998;0.996;0.993	P;D;P	0.63703	0.894;0.917;0.827	T	0.37888	-0.9686	10	0.87932	D	0	-11.4521	14.6082	0.68495	0.0:0.0:0.0:1.0	.	820;688;740	E9PF32;A2RUS2-2;A2RUS2	.;.;DEND3_HUMAN	T	740;688;820	ENSP00000262585:M740T;ENSP00000410594:M688T;ENSP00000428714:M820T	ENSP00000262585:M740T	M	+	2	0	DENND3	142254664	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.437000	0.80417	1.857000	0.53885	0.402000	0.26972	ATG		0.527	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957	
GML	2765	broad.mit.edu	37	8	143922558	143922558	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:143922558A>T	ENST00000220940.1	+	3	188	c.98A>T	c.(97-99)gAc>gTc	p.D33V		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	33	UPAR/Ly6.				apoptotic process (GO:0006915)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|negative regulation of cell proliferation (GO:0008285)	anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)		p.D33V(1)		NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AGATGCCATGACTGTGCGGTC	0.478																																					p.D33V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A98T	8						.						194.0	155.0	168.0					8																	143922558		2203	4300	6503	143919560	SO:0001583	missense	2765	exon3			D84290	CCDS6391.1	8q24.3	2014-05-14	2012-11-02						4375	protein-coding gene	gene with protein product		602370	"""GPI anchored molecule like protein"", ""glycosylphosphatidylinositol anchored molecule like protein"""			8934543, 9169150	Standard	NM_002066		Approved	LY6DL	uc003yxg.3	Q99445		ENST00000220940.1:c.98A>T	8.37:g.143922558A>T	ENSP00000220940:p.Asp33Val		143919560	NM_002066	A0AVF6|O00686|O00731	Missense_Mutation	SNP	ENST00000220940.1	37	CCDS6391.1	.	.	.	.	.	.	.	.	.	.	N	9.827	1.187484	0.21870	.	.	ENSG00000104499	ENST00000522728;ENST00000220940	T;T	0.20332	2.08;2.08	3.43	-5.27	0.02763	Ly-6 antigen / uPA receptor -like (1);CD59 antigen, conserved site (1);	2.014160	0.02660	N	0.107442	T	0.11153	0.0272	N	0.24115	0.695	0.09310	N	0.999999	B	0.17268	0.021	B	0.16289	0.015	T	0.14839	-1.0458	10	0.33141	T	0.24	-4.9646	0.9035	0.01279	0.2785:0.3121:0.1036:0.3059	.	33	Q99445	GML_HUMAN	V	33	ENSP00000430799:D33V;ENSP00000220940:D33V	ENSP00000220940:D33V	D	+	2	0	GML	143919560	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.015000	0.12634	-1.007000	0.03408	-0.321000	0.08615	GAC		0.478	GML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379659.1	NM_002066	
CYP11B1	1584	broad.mit.edu	37	8	143961027	143961027	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:143961027A>G	ENST00000292427.4	-	1	235	c.203T>C	c.(202-204)gTa>gCa	p.V68A	CYP11B1_ENST00000517471.1_Missense_Mutation_p.V68A|CYP11B1_ENST00000377675.3_Missense_Mutation_p.V68A	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	68					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.V68A(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	GGTCTGGTGTACTTCCAGGTG	0.627									Familial Hyperaldosteronism type I																												p.V68A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T203C	8						.						82.0	75.0	77.0					8																	143961027		2203	4300	6503	143958029	SO:0001583	missense	1584	exon1	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.203T>C	8.37:g.143961027A>G	ENSP00000292427:p.Val68Ala		143958029	NM_001026213	Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	A	10.03	1.239603	0.22711	.	.	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;T;T	0.74947	-0.42;-0.42;-0.89	2.47	2.47	0.30058	.	0.633687	0.13846	N	0.358710	T	0.54062	0.1835	N	0.08118	0	0.24455	N	0.994467	B;B;B	0.19583	0.037;0.016;0.019	B;B;B	0.30105	0.045;0.078;0.111	T	0.48864	-0.8997	10	0.44086	T	0.13	.	6.8384	0.23949	1.0:0.0:0.0:0.0	.	68;68;68	Q4VAR0;Q4VAQ9;P15538	.;.;C11B1_HUMAN	A	68	ENSP00000292427:V68A;ENSP00000428043:V68A;ENSP00000366903:V68A	ENSP00000292427:V68A	V	-	2	0	CYP11B1	143958029	0.926000	0.31397	0.080000	0.20451	0.266000	0.26442	2.818000	0.48041	1.370000	0.46153	0.397000	0.26171	GTA		0.627	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2		
CSMD1	64478	broad.mit.edu	37	8	2855671	2855671	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:2855671C>A	ENST00000520002.1	-	55	8797	c.8242G>T	c.(8242-8244)Gga>Tga	p.G2748*	CSMD1_ENST00000537824.1_Nonsense_Mutation_p.G2747*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.G2690*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.G2689*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.G2748*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.G2690*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2748	Sushi 19. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.G2747*(1)|p.G2476*(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTAGTGAATCCGTGGGCAGGG	0.498																																					p.R2747L												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G8240T	8						.						147.0	143.0	144.0					8																	2855671		1998	4181	6179	2843078	SO:0001587	stop_gained	64478	exon54					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8242G>T	8.37:g.2855671C>A	ENSP00000430733:p.Gly2748*		2843078	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Nonsense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	50|50	17.155608|17.155608	0.99880|0.99880	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	.|.	.|.	.|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.77370	.|0.4120	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73820	.|-0.3862	.|4	0.72032|.	D|.	0.01|.	.|.	20.6439|20.6439	0.99570|0.99570	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	2690;2748;2609;2747;2689|2164	.|.	ENSP00000320445:G2609X|.	G|R	-|-	1|2	0|0	CSMD1|CSMD1	2843078|2843078	1.000000|1.000000	0.71417|0.71417	0.234000|0.234000	0.24042|0.24042	0.330000|0.330000	0.28571|0.28571	7.642000|7.642000	0.83385|0.83385	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	GGA|CGG		0.498	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
CSMD1	64478	broad.mit.edu	37	8	4494988	4494988	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:4494988A>T	ENST00000520002.1	-	2	733	c.178T>A	c.(178-180)Tgg>Agg	p.W60R	CSMD1_ENST00000537824.1_Missense_Mutation_p.W60R|CSMD1_ENST00000400186.3_Missense_Mutation_p.W60R|CSMD1_ENST00000539096.1_Missense_Mutation_p.W60R|CSMD1_ENST00000542608.1_Missense_Mutation_p.W60R|CSMD1_ENST00000602557.1_Missense_Mutation_p.W60R|CSMD1_ENST00000602723.1_Missense_Mutation_p.W60R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	60	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.W60R(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATGATGATCCAGGTGCAGTTG	0.488																																					p.W60R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T178A	8						.						116.0	117.0	117.0					8																	4494988		1950	4168	6118	4482396	SO:0001583	missense	64478	exon2					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.178T>A	8.37:g.4494988A>T	ENSP00000430733:p.Trp60Arg		4482396	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	A	23.3	4.399170	0.83120	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	5.32	5.32	0.75619	.	.	.	.	.	T	0.80834	0.4699	H	0.98721	4.31	0.41168	D	0.98614	D	0.76494	0.999	D	0.91635	0.999	D	0.88269	0.2928	9	0.87932	D	0	.	13.2346	0.59963	1.0:0.0:0.0:0.0	.	60	E5RIG2	.	R	60	ENSP00000383047:W60R;ENSP00000430733:W60R;ENSP00000441462:W60R;ENSP00000446243:W60R;ENSP00000441675:W60R	ENSP00000383047:W60R	W	-	1	0	CSMD1	4482396	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.262000	0.95591	2.029000	0.59856	0.477000	0.44152	TGG		0.488	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
ANGPT2	285	broad.mit.edu	37	8	6420251	6420251	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:6420251C>T	ENST00000325203.5	-	1	679	c.205G>A	c.(205-207)Gcg>Acg	p.A69T	MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000338312.6_Missense_Mutation_p.A69T|ANGPT2_ENST00000523120.1_Missense_Mutation_p.A69T|ANGPT2_ENST00000415216.1_Missense_Mutation_p.A69T			O15123	ANGP2_HUMAN	angiopoietin 2	69					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to growth factor stimulus (GO:0071363)|germ cell development (GO:0007281)|glomerulus vasculature development (GO:0072012)|leukocyte migration (GO:0050900)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of positive chemotaxis (GO:0050928)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to radiation (GO:0009314)|signal transduction (GO:0007165)|Tie signaling pathway (GO:0048014)	cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)	p.A69T(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		TCGAGCGGCGCGTCCCTCTGC	0.542																																					p.A69T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G205A	8						.						129.0	113.0	118.0					8																	6420251		2203	4300	6503	6407659	SO:0001583	missense	285	exon1			AF004327	CCDS5958.1, CCDS47761.1	8p23	2013-02-06			ENSG00000091879	ENSG00000091879		"""Fibrinogen C domain containing"""	485	protein-coding gene	gene with protein product		601922				9545648	Standard	NM_001147		Approved	Ang2	uc003wqj.4	O15123	OTTHUMG00000090365	ENST00000325203.5:c.205G>A	8.37:g.6420251C>T	ENSP00000314897:p.Ala69Thr		6407659	NM_001118888	A0AV38|A8K205|B7ZLM7|Q9NRR7|Q9P2Y7	Missense_Mutation	SNP	ENST00000325203.5	37	CCDS5958.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260938	0.80246	.	.	ENSG00000091879	ENST00000325203;ENST00000415216;ENST00000338312;ENST00000523120	D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78	5.64	4.76	0.60689	.	0.179339	0.50627	D	0.000103	T	0.80660	0.4665	L	0.58101	1.795	0.44677	D	0.997662	P;P;P;B	0.47604	0.746;0.898;0.746;0.223	B;B;B;B	0.41466	0.358;0.126;0.358;0.044	T	0.81665	-0.0830	10	0.52906	T	0.07	.	13.796	0.63171	0.1544:0.8456:0.0:0.0	.	69;69;69;69	O15123-2;E7EVQ3;O15123-3;O15123	.;.;.;ANGP2_HUMAN	T	69	ENSP00000314897:A69T;ENSP00000400782:A69T;ENSP00000343517:A69T;ENSP00000428023:A69T	ENSP00000314897:A69T	A	-	1	0	ANGPT2	6407659	1.000000	0.71417	0.982000	0.44146	0.950000	0.60333	5.902000	0.69869	1.367000	0.46095	0.655000	0.94253	GCG		0.542	ANGPT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206737.1	NM_001147	
CNOT7	29883	broad.mit.edu	37	8	17094819	17094819	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:17094819delT	ENST00000361272.4	-	4	673	c.375delA	c.(373-375)aaafs	p.K125fs	CNOT7_ENST00000523917.1_Frame_Shift_Del_p.K125fs	NM_013354.5	NP_037486.2	Q9UIV1	CNOT7_HUMAN	CCR4-NOT transcription complex, subunit 7	125					carbohydrate metabolic process (GO:0005975)|cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of cell proliferation (GO:0008285)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.K125fs*17(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		CCTCCTCATGTTTTTTAAACT	0.423																																					p.K125fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.375delA	8						.						141.0	125.0	130.0					8																	17094819		2203	4300	6503	17139190	SO:0001589	frameshift_variant	29883	exon4			L46722	CCDS6000.2, CCDS55202.1	8p22-p21.3	2008-08-07			ENSG00000198791	ENSG00000198791			14101	protein-coding gene	gene with protein product	"""BTG1 binding factor 1"""	604913		CAF1		10637334, 1538749, 17264152	Standard	XM_005273481		Approved		uc003wxg.1	Q9UIV1	OTTHUMG00000096971	ENST00000361272.4:c.375delA	8.37:g.17094819delT	ENSP00000355279:p.Lys125fs		17139190	NM_013354	A8MZM5|B3KMP1|B3KN35|D3DSP6|G3V108|Q7Z530	Frame_Shift_Del	DEL	ENST00000361272.4	37	CCDS6000.2																																																																																				0.423	CNOT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214038.1	NM_013354	
MTMR7	9108	broad.mit.edu	37	8	17228578	17228578	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:17228578A>G	ENST00000180173.5	-	3	312	c.278T>C	c.(277-279)gTg>gCg	p.V93A	MTMR7_ENST00000521857.1_Missense_Mutation_p.V93A	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	93					inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)	p.V93A(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		GGAGATGTACACGTCGTGGCA	0.458																																					p.V93A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T278C	8						.						144.0	130.0	134.0					8																	17228578		2203	4300	6503	17272949	SO:0001583	missense	9108	exon3			AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.278T>C	8.37:g.17228578A>G	ENSP00000180173:p.Val93Ala		17272949	NM_004686	A1L4K9|B4DG87|Q68DX4	Missense_Mutation	SNP	ENST00000180173.5	37	CCDS34851.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.096539	0.76870	.	.	ENSG00000003987	ENST00000180173;ENST00000521857	D;D	0.83992	-1.79;-1.79	5.23	5.23	0.72850	.	0.121139	0.56097	D	0.000025	D	0.82291	0.5005	M	0.64676	1.99	0.80722	D	1	B	0.22480	0.07	B	0.27500	0.08	T	0.80398	-0.1399	10	0.54805	T	0.06	.	15.4294	0.75081	1.0:0.0:0.0:0.0	.	93	Q9Y216	MTMR7_HUMAN	A	93	ENSP00000180173:V93A;ENSP00000429733:V93A	ENSP00000180173:V93A	V	-	2	0	MTMR7	17272949	1.000000	0.71417	0.889000	0.34880	0.602000	0.36980	8.883000	0.92426	2.103000	0.63969	0.533000	0.62120	GTG		0.458	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375311.1	NM_004686	
MTUS1	57509	broad.mit.edu	37	8	17612574	17612574	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:17612574T>C	ENST00000262102.6	-	2	967	c.743A>G	c.(742-744)gAt>gGt	p.D248G	MTUS1_ENST00000381862.3_Missense_Mutation_p.D248G|MTUS1_ENST00000519263.1_Missense_Mutation_p.D248G|MTUS1_ENST00000381869.3_Missense_Mutation_p.D248G	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	248					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.D248G(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CATCACCACATCAGAAAATGC	0.408																																					p.D248G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A743G	8						.						190.0	169.0	176.0					8																	17612574		1923	4131	6054	17656854	SO:0001583	missense	57509	exon2			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.743A>G	8.37:g.17612574T>C	ENSP00000262102:p.Asp248Gly		17656854	NM_001001925	A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	T	13.41	2.228714	0.39399	.	.	ENSG00000129422	ENST00000381869;ENST00000262102;ENST00000519263;ENST00000381862	T;T;T;T	0.25749	2.74;2.78;2.74;1.78	4.38	4.38	0.52667	.	0.084915	0.47093	D	0.000246	T	0.35941	0.0949	L	0.32530	0.975	0.29806	N	0.83207	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.70487	0.969;0.958;0.958	T	0.10474	-1.0628	9	.	.	.	-23.0782	11.8479	0.52395	0.0:0.0:0.0:1.0	.	248;248;248	Q9ULD2-5;Q9ULD2-2;Q9ULD2	.;.;MTUS1_HUMAN	G	248	ENSP00000371293:D248G;ENSP00000262102:D248G;ENSP00000430167:D248G;ENSP00000371286:D248G	.	D	-	2	0	MTUS1	17656854	0.680000	0.27605	0.489000	0.27452	0.648000	0.38561	4.337000	0.59310	2.200000	0.70718	0.533000	0.62120	GAT		0.408	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031	
ASAH1	427	broad.mit.edu	37	8	17915062	17915062	+	Missense_Mutation	SNP	T	T	C	rs373012279		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:17915062T>C	ENST00000262097.6	-	14	1480	c.1169A>G	c.(1168-1170)gAc>gGc	p.D390G	ASAH1_ENST00000381733.4_Missense_Mutation_p.D406G|ASAH1_ENST00000520781.1_Missense_Mutation_p.D365G|ASAH1_ENST00000417108.2_Missense_Mutation_p.D300G|ASAH1_ENST00000314146.10_Missense_Mutation_p.D384G	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1	390					cell death (GO:0008219)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lung development (GO:0030324)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|ceramidase activity (GO:0017040)	p.D406G(1)|p.D390G(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		TATACAAGGGTCAGGGCAGTC	0.468																																					p.D406G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1217G	8						.						112.0	96.0	101.0					8																	17915062		2203	4300	6503	17959342	SO:0001583	missense	427	exon14			U70063	CCDS6005.1, CCDS6006.1, CCDS47813.1	8p22	2007-03-27	2002-09-11	2002-09-13	ENSG00000104763	ENSG00000104763			735	protein-coding gene	gene with protein product		613468	"""N-acylsphingosine amidohydrolase (acid ceramidase)"""	ASAH		8955159, 10610716	Standard	NM_004315		Approved	AC, PHP32, FLJ21558	uc003wyn.2	Q13510	OTTHUMG00000096997	ENST00000262097.6:c.1169A>G	8.37:g.17915062T>C	ENSP00000262097:p.Asp390Gly		17959342	NM_004315	E9PDS0|Q6W898|Q96AS2	Missense_Mutation	SNP	ENST00000262097.6	37	CCDS6006.1	.	.	.	.	.	.	.	.	.	.	T	14.78	2.638605	0.47153	.	.	ENSG00000104763	ENST00000262097;ENST00000381733;ENST00000520781;ENST00000417108;ENST00000314146	T;T;T;T;T	0.72725	-0.66;-0.49;-0.68;-0.24;-0.55	5.42	5.42	0.78866	.	0.086238	0.85682	D	0.000000	T	0.65165	0.2665	L	0.52011	1.625	0.58432	D	0.999991	B;B;B;B	0.21606	0.058;0.036;0.021;0.021	B;B;B;B	0.20577	0.013;0.03;0.013;0.013	T	0.60606	-0.7230	10	0.23302	T	0.38	0.0398	15.4308	0.75099	0.0:0.0:0.0:1.0	.	384;406;365;390	E9PDS0;Q13510-2;E7EMM4;Q13510	.;.;.;ASAH1_HUMAN	G	390;406;365;300;384	ENSP00000262097:D390G;ENSP00000371152:D406G;ENSP00000427751:D365G;ENSP00000394125:D300G;ENSP00000326970:D384G	ENSP00000262097:D390G	D	-	2	0	ASAH1	17959342	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	5.467000	0.66737	2.180000	0.69256	0.528000	0.53228	GAC		0.468	ASAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214077.2	NM_004315	
LPL	4023	broad.mit.edu	37	8	19818485	19818485	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:19818485T>G	ENST00000311322.8	+	8	1683	c.1213T>G	c.(1213-1215)Ttg>Gtg	p.L405V		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	405	Heparin-binding. {ECO:0000250}.|PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)	p.L405V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	ACTACTCATGTTGAAGCTCAA	0.413																																					p.L405V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1213G	8						.						112.0	109.0	110.0					8																	19818485		2203	4300	6503	19862765	SO:0001583	missense	4023	exon8				CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.1213T>G	8.37:g.19818485T>G	ENSP00000309757:p.Leu405Val		19862765	NM_000237	B2R5T9|Q16282|Q16283|Q96FC4	Missense_Mutation	SNP	ENST00000311322.8	37	CCDS6012.1	.	.	.	.	.	.	.	.	.	.	T	7.293	0.611522	0.14066	.	.	ENSG00000175445	ENST00000311322;ENST00000535763	T	0.64260	-0.09	5.93	-11.9	0.00025	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.791814	0.11871	N	0.521421	T	0.31009	0.0783	N	0.21097	0.63	0.30746	N	0.745601	B	0.06786	0.001	B	0.20384	0.029	T	0.06643	-1.0815	8	.	.	.	-5.3294	2.4709	0.04564	0.1974:0.41:0.0768:0.3158	.	405	P06858	LIPL_HUMAN	V	405;391	ENSP00000309757:L405V	.	L	+	1	2	LPL	19862765	0.121000	0.22262	0.566000	0.28421	0.141000	0.21300	-1.030000	0.03581	-1.921000	0.01068	-0.242000	0.12053	TTG		0.413	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3		
PHYHIP	9796	broad.mit.edu	37	8	22085816	22085816	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:22085816A>G	ENST00000321613.3	-	3	511	c.55T>C	c.(55-57)Tcc>Ccc	p.S19P	PHYHIP_ENST00000454243.2_Missense_Mutation_p.S19P	NM_001099335.1	NP_001092805.1	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	19	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.							p.S19P(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		ATGCGGAAGGAGTCGCAGGTG	0.532																																					p.S19P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T55C	8						.						91.0	94.0	93.0					8																	22085816		2144	4251	6395	22141761	SO:0001583	missense	9796	exon2			D87463	CCDS43723.1	8p21.2	2010-02-17	2006-01-09		ENSG00000168490	ENSG00000168490			16865	protein-coding gene	gene with protein product		608511	"""phytanoyl-CoA hydroxylase interacting protein"", ""DYRK1A interacting protein 3"""	DYRK1AP3		9039502, 10686344	Standard	NM_014759		Approved	KIAA0273, PAHX-AP	uc003xbj.4	Q92561	OTTHUMG00000163776	ENST00000321613.3:c.55T>C	8.37:g.22085816A>G	ENSP00000320017:p.Ser19Pro		22141761	NM_014759	D3DSR1|Q8N4I9	Missense_Mutation	SNP	ENST00000321613.3	37	CCDS43723.1	.	.	.	.	.	.	.	.	.	.	A	32	5.105281	0.94245	.	.	ENSG00000168490	ENST00000321613;ENST00000454243;ENST00000456132	T;T	0.53206	0.63;0.63	5.67	5.67	0.87782	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.62792	0.2457	L	0.46157	1.445	0.53005	D	0.999962	D	0.89917	1.0	D	0.91635	0.999	T	0.65533	-0.6145	10	0.87932	D	0	-50.2443	14.8811	0.70534	1.0:0.0:0.0:0.0	.	19	Q92561	PHYIP_HUMAN	P	19	ENSP00000320017:S19P;ENSP00000415491:S19P	ENSP00000320017:S19P	S	-	1	0	PHYHIP	22141761	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.323000	0.96364	2.160000	0.67779	0.418000	0.28097	TCC		0.532	PHYHIP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375388.1	NM_014759	
POLR3D	661	broad.mit.edu	37	8	22105449	22105449	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:22105449C>T	ENST00000397802.4	+	3	504	c.289C>T	c.(289-291)Cga>Tga	p.R97*	POLR3D_ENST00000306433.4_Nonsense_Mutation_p.R97*|MIR320A_ENST00000385302.1_RNA			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	97					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.R97*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		TGGACGAGGGCGAGGCCGTCC	0.483																																					p.R97X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C289T	8						.						132.0	118.0	123.0					8																	22105449		2203	4300	6503	22161394	SO:0001587	stop_gained	661	exon4			M17754	CCDS34858.1	8q21	2013-01-21	2003-04-01	2003-04-04	ENSG00000168495	ENSG00000168495		"""RNA polymerase subunits"""	1080	protein-coding gene	gene with protein product		187280	"""BN51 (BHK21) temperature sensitivity complementing"""	BN51T		12391170, 11279001	Standard	NM_001722		Approved	TSBN51, RPC4	uc003xbl.3	P05423	OTTHUMG00000163778	ENST00000397802.4:c.289C>T	8.37:g.22105449C>T	ENSP00000380904:p.Arg97*		22161394	NM_001722	Q6FI28|Q9BPV7|Q9BPZ1|Q9BXB3	Nonsense_Mutation	SNP	ENST00000397802.4	37	CCDS34858.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.011662	0.75046	.	.	ENSG00000168495	ENST00000306433;ENST00000519237;ENST00000397802	.	.	.	5.85	2.67	0.31697	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.3011	15.0839	0.72135	0.4173:0.5827:0.0:0.0	.	.	.	.	X	97	.	ENSP00000303088:R97X	R	+	1	2	POLR3D	22161394	0.077000	0.21312	0.364000	0.25888	0.943000	0.58893	0.529000	0.23019	0.753000	0.32945	0.655000	0.94253	CGA		0.483	POLR3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375434.2	NM_001722	
EGR3	1960	broad.mit.edu	37	8	22548093	22548093	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:22548093T>C	ENST00000317216.2	-	2	1414	c.1057A>G	c.(1057-1059)Aag>Gag	p.K353E	RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000522910.1_Missense_Mutation_p.K315E|EGR3_ENST00000524088.1_5'UTR|EGR3_ENST00000519492.1_3'UTR	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	353					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|circadian rhythm (GO:0007623)|endothelial cell chemotaxis (GO:0035767)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K353E(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		AGGTGGATCTTGGCGTGGCGC	0.657																																					p.K353E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1057G	8						.						69.0	60.0	63.0					8																	22548093		2191	4280	6471	22604038	SO:0001583	missense	1960	exon2			X63741	CCDS6033.1, CCDS56528.1	8p23-p21	2013-01-08			ENSG00000179388	ENSG00000179388		"""Zinc fingers, C2H2-type"""	3240	protein-coding gene	gene with protein product	"""zinc finger protein pilot"""	602419				1906159, 11909874	Standard	NM_004430		Approved	PILOT	uc003xcm.1	Q06889	OTTHUMG00000097825	ENST00000317216.2:c.1057A>G	8.37:g.22548093T>C	ENSP00000318057:p.Lys353Glu		22604038	NM_004430	A8K8U9|B4DHJ5|E7EW38|Q2M3W2	Missense_Mutation	SNP	ENST00000317216.2	37	CCDS6033.1	.	.	.	.	.	.	.	.	.	.	T	17.38	3.375659	0.61735	.	.	ENSG00000179388	ENST00000317216;ENST00000522910;ENST00000435199	T;T	0.10960	2.82;2.82	5.62	4.43	0.53597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.110428	0.64402	D	0.000012	T	0.20780	0.0500	L	0.34521	1.04	0.80722	D	1	D;D	0.69078	0.958;0.997	P;D	0.73380	0.685;0.98	T	0.00719	-1.1595	10	0.87932	D	0	-14.5567	10.9533	0.47343	0.0:0.0:0.1571:0.8429	.	315;353	E7EW38;Q06889	.;EGR3_HUMAN	E	353;315;194	ENSP00000318057:K353E;ENSP00000430310:K315E	ENSP00000318057:K353E	K	-	1	0	EGR3	22604038	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.065000	0.64344	0.916000	0.36871	0.533000	0.62120	AAG		0.657	EGR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215098.1	NM_004430	
ENTPD4	9583	broad.mit.edu	37	8	23297292	23297292	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:23297292C>T	ENST00000358689.4	-	9	1254	c.1019G>A	c.(1018-1020)aGa>aAa	p.R340K	ENTPD4_ENST00000356206.6_Missense_Mutation_p.R332K|ENTPD4_ENST00000521321.1_5'Flank|ENTPD4_ENST00000417069.2_Missense_Mutation_p.R332K	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	340					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)	p.R340K(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		GGCAAATATTCTGTCTTCGTA	0.448																																					p.R340K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1019A	8						.						178.0	153.0	162.0					8																	23297292		2203	4300	6503	23353237	SO:0001583	missense	9583	exon9			AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"""lysosomal apyrase-like 1"""	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.1019G>A	8.37:g.23297292C>T	ENSP00000351520:p.Arg340Lys		23353237	NM_004901	D3DSS3|O15092	Missense_Mutation	SNP	ENST00000358689.4	37	CCDS6041.1	.	.	.	.	.	.	.	.	.	.	C	4.911	0.169288	0.09339	.	.	ENSG00000197217	ENST00000356206;ENST00000358689;ENST00000417069	T;T;T	0.09445	2.98;2.98;2.98	6.07	3.16	0.36331	.	0.227351	0.53938	N	0.000047	T	0.03390	0.0098	N	0.03209	-0.39	0.09310	N	0.999999	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.15052	0.012;0.004;0.007	T	0.45600	-0.9250	10	0.05833	T	0.94	-6.1982	5.6961	0.17857	0.0:0.621:0.1388:0.2401	.	332;332;340	Q8NE73;Q9Y227-2;Q9Y227	.;.;ENTP4_HUMAN	K	332;340;332	ENSP00000348536:R332K;ENSP00000351520:R340K;ENSP00000408573:R332K	ENSP00000348536:R332K	R	-	2	0	ENTPD4	23353237	0.009000	0.17119	0.874000	0.34290	0.982000	0.71751	0.200000	0.17257	0.369000	0.24510	0.655000	0.94253	AGA		0.448	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215142.1	NM_004901	
ADAM7	8756	broad.mit.edu	37	8	24344702	24344702	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:24344702T>C	ENST00000175238.6	+	11	1046	c.963T>C	c.(961-963)gaT>gaC	p.D321D	RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_Silent_p.D93D|ADAM7_ENST00000380789.1_Silent_p.D321D|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	321	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D321D(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ATCATCAGGATCTTTTACCTG	0.413																																					p.D321D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T963C	8						.						88.0	72.0	78.0					8																	24344702		2203	4300	6503	24400592	SO:0001819	synonymous_variant	8756	exon11			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.963T>C	8.37:g.24344702T>C			24400592	NM_003817	A8K8X7|O75959|Q6PEJ6	Silent	SNP	ENST00000175238.6	37	CCDS6045.1																																																																																				0.413	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817	
DOCK5	80005	broad.mit.edu	37	8	25253164	25253164	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:25253164C>T	ENST00000276440.7	+	45	4677	c.4633C>T	c.(4633-4635)Cac>Tac	p.H1545Y		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1545	DHR-2.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.H1545Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CCTCTCTGTGCACCCTCTCTC	0.577																																					p.H1545Y	Pancreas(145;34 1887 3271 10937 30165)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4633T	8						.						102.0	86.0	92.0					8																	25253164		2203	4300	6503	25309081	SO:0001583	missense	80005	exon45				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.4633C>T	8.37:g.25253164C>T	ENSP00000276440:p.His1545Tyr		25309081	NM_024940	B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.024152	0.35701	.	.	ENSG00000147459	ENST00000276440	T	0.16897	2.31	5.71	5.71	0.89125	.	0.170599	0.52532	D	0.000080	T	0.27278	0.0669	M	0.68952	2.095	0.48975	D	0.99973	B;B	0.24721	0.041;0.11	B;B	0.29077	0.098;0.098	T	0.04029	-1.0983	10	0.87932	D	0	.	19.855	0.96755	0.0:1.0:0.0:0.0	.	1535;1545	D3DSS6;Q9H7D0	.;DOCK5_HUMAN	Y	1545	ENSP00000276440:H1545Y	ENSP00000276440:H1545Y	H	+	1	0	DOCK5	25309081	1.000000	0.71417	1.000000	0.80357	0.193000	0.23685	4.855000	0.62925	2.691000	0.91804	0.561000	0.74099	CAC		0.577	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940	
ADRA1A	148	broad.mit.edu	37	8	26722151	26722151	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:26722151C>T	ENST00000519229.1	-	1	342	c.336G>A	c.(334-336)gcG>gcA	p.A112A	ADRA1A_ENST00000358857.5_Silent_p.A112A|ADRA1A_ENST00000380582.3_Silent_p.A112A|ADRA1A_ENST00000354550.4_Silent_p.A112A|ADRA1A_ENST00000380573.3_Silent_p.A112A|ADRA1A_ENST00000276393.4_Silent_p.A112A|ADRA1A_ENST00000380581.2_Silent_p.A112A|ADRA1A_ENST00000380587.1_Silent_p.A112A|ADRA1A_ENST00000380586.1_Silent_p.A112A|ADRA1A_ENST00000380572.3_Silent_p.A112A			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	182					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)	p.A112A(5)		breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	CCATGATGGACGCGGTGCAGC	0.622																																					p.A112A												.	.	5	Substitution - coding silent(5)	large_intestine(5)	c.G336A	8						.						101.0	93.0	96.0					8																	26722151		2203	4300	6503	26778068	SO:0001819	synonymous_variant	148	exon1			L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.336G>A	8.37:g.26722151C>T			26778068	NM_033302	Q9NPY0	Silent	SNP	ENST00000519229.1	37																																																																																					0.622	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1	NM_033303	
SCARA3	51435	broad.mit.edu	37	8	27528481	27528481	+	Silent	SNP	C	C	T	rs559364793		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:27528481C>T	ENST00000301904.3	+	6	1454	c.1434C>T	c.(1432-1434)ggC>ggT	p.G478G	SCARA3_ENST00000337221.4_Intron	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	478	Collagen-like 1.				receptor-mediated endocytosis (GO:0006898)|response to oxidative stress (GO:0006979)|UV protection (GO:0009650)	collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)	p.G478G(1)		breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		GGCCTGTTGGCGGCAGAGGCC	0.657													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15439	0.0		0.0	False		,,,				2504	0.0				p.G478G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1434T	8						.						47.0	57.0	53.0					8																	27528481		2201	4296	6497	27584400	SO:0001819	synonymous_variant	51435	exon6			AB007829	CCDS34870.1, CCDS34871.1	8p21	2010-03-24			ENSG00000168077	ENSG00000168077			19000	protein-coding gene	gene with protein product	"""macrophage scavenger receptor-like 1"""	602728				9747040, 9580669	Standard	NM_182826		Approved	CSR1, CSR, MSLR1, APC7, MSRL1	uc003xga.1	Q6AZY7	OTTHUMG00000163898	ENST00000301904.3:c.1434C>T	8.37:g.27528481C>T			27584400	NM_016240	Q9UM15|Q9UM16	Silent	SNP	ENST00000301904.3	37	CCDS34871.1																																																																																				0.657	SCARA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376258.2	NM_016240	
SCARA5	286133	broad.mit.edu	37	8	27764676	27764676	+	Missense_Mutation	SNP	C	C	T	rs185984632		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:27764676C>T	ENST00000354914.3	-	6	1570	c.1085G>A	c.(1084-1086)cGt>cAt	p.R362H	SCARA5_ENST00000301906.4_Missense_Mutation_p.R319H|SCARA5_ENST00000380385.2_Missense_Mutation_p.R137H|RP11-597M17.1_ENST00000517735.1_RNA|SCARA5_ENST00000524352.1_Missense_Mutation_p.R362H|SCARA5_ENST00000518030.1_Missense_Mutation_p.R319H	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	362	Collagen-like.				cellular iron ion homeostasis (GO:0006879)|cellular response to heat (GO:0034605)|endocytosis (GO:0006897)|iron ion transmembrane transport (GO:0034755)|protein homotrimerization (GO:0070207)|receptor-mediated endocytosis (GO:0006898)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)	ferritin receptor activity (GO:0070287)|scavenger receptor activity (GO:0005044)	p.R362H(1)		central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		TTTGAACCCACGCATGCCCAT	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		18144	0.001		0.0	False		,,,				2504	0.0				p.R362H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1085A	8						.						192.0	184.0	186.0					8																	27764676		2203	4300	6503	27820595	SO:0001583	missense	286133	exon6			AK172746	CCDS6064.1	8p21.1	2014-07-08	2014-07-08		ENSG00000168079	ENSG00000168079			28701	protein-coding gene	gene with protein product		611306	"""scavenger receptor class A, member 5 (putative)"""			19154717	Standard	NM_173833		Approved	FLJ23907, MGC45780, NET33	uc003xgj.3	Q6ZMJ2	OTTHUMG00000132172	ENST00000354914.3:c.1085G>A	8.37:g.27764676C>T	ENSP00000346990:p.Arg362His		27820595	NM_173833	Q6UXZ1|Q7Z4A1|Q8N4Z7	Missense_Mutation	SNP	ENST00000354914.3	37	CCDS6064.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	22.8	4.331851	0.81801	.	.	ENSG00000168079	ENST00000354914;ENST00000380385;ENST00000517320;ENST00000524352;ENST00000518030;ENST00000301906	D;D;D;D;D	0.93811	-1.77;-3.29;-1.77;-1.77;-1.77	5.86	5.86	0.93980	.	0.235220	0.36555	N	0.002533	D	0.95598	0.8569	L	0.53249	1.67	0.51012	D	0.999902	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.87578	0.994;0.994;0.994;0.998	D	0.95284	0.8389	10	0.56958	D	0.05	.	15.6773	0.77338	0.0:1.0:0.0:0.0	.	137;362;319;362	Q6ZMJ2-4;Q6ZMJ2-2;Q6ZMJ2-3;Q6ZMJ2	.;.;.;SCAR5_HUMAN	H	362;137;162;362;319;319	ENSP00000346990:R362H;ENSP00000369746:R137H;ENSP00000428663:R362H;ENSP00000430713:R319H;ENSP00000301906:R319H	ENSP00000301906:R319H	R	-	2	0	SCARA5	27820595	0.994000	0.37717	0.984000	0.44739	0.716000	0.41182	4.069000	0.57541	2.778000	0.95560	0.655000	0.94253	CGT		0.597	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255223.2	NM_173833	
EXTL3	2137	broad.mit.edu	37	8	28573827	28573827	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:28573827G>A	ENST00000220562.4	+	3	1153	c.251G>A	c.(250-252)cGc>cAc	p.R84H	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	84					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)	p.R84H(1)		biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GATCTGTGCCGCATCCGGGAG	0.597																																					p.R84H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G251A	8						.						75.0	72.0	73.0					8																	28573827		2203	4300	6503	28629746	SO:0001583	missense	2137	exon3			U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"""Exostosin glycosyltransferase family"""	3518	protein-coding gene	gene with protein product	"""REG receptor"", ""glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"""	605744	"""exostoses (multiple)-like 3"""			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.251G>A	8.37:g.28573827G>A	ENSP00000220562:p.Arg84His		28629746	NM_001440	D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	ENST00000220562.4	37	CCDS6070.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389459	0.82902	.	.	ENSG00000012232	ENST00000220562	D	0.97209	-4.29	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.97660	0.9233	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.63113	0.911	D	0.97294	0.9926	9	.	.	.	-16.5323	19.4523	0.94872	0.0:0.0:1.0:0.0	.	84	O43909	EXTL3_HUMAN	H	84	ENSP00000220562:R84H	.	R	+	2	0	EXTL3	28629746	1.000000	0.71417	0.922000	0.36590	0.844000	0.47949	9.869000	0.99810	2.600000	0.87896	0.491000	0.48974	CGC		0.597	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440	
TEX15	56154	broad.mit.edu	37	8	30695128	30695128	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:30695128G>A	ENST00000256246.2	-	3	7597	c.7523C>T	c.(7522-7524)gCg>gTg	p.A2508V		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2508					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.A2508V(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GAGCACCGACGCATCAGGCAC	0.383																																					p.A2508V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7523T	8						.						70.0	72.0	71.0					8																	30695128		2203	4300	6503	30814670	SO:0001583	missense	56154	exon3			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7523C>T	8.37:g.30695128G>A	ENSP00000256246:p.Ala2508Val		30814670	NM_031271		Missense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	G	9.133	1.011919	0.19277	.	.	ENSG00000133863	ENST00000256246	T	0.13538	2.58	5.34	3.51	0.40186	.	0.946781	0.08764	N	0.897284	T	0.11623	0.0283	L	0.29908	0.895	0.09310	N	1	B	0.21905	0.062	B	0.17979	0.02	T	0.28554	-1.0040	10	0.87932	D	0	.	7.877	0.29599	0.0882:0.1627:0.7491:0.0	.	2508	Q9BXT5	TEX15_HUMAN	V	2508	ENSP00000256246:A2508V	ENSP00000256246:A2508V	A	-	2	0	TEX15	30814670	0.013000	0.17824	0.002000	0.10522	0.001000	0.01503	0.576000	0.23744	0.866000	0.35629	-0.142000	0.14014	GCG		0.383	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
PURG	29942	broad.mit.edu	37	8	30854119	30854119	+	Missense_Mutation	SNP	A	A	T	rs534715067		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:30854119A>T	ENST00000339382.2	-	2	1891	c.959T>A	c.(958-960)gTt>gAt	p.V320D		NM_001015508.1	NP_001015508.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	0						nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.V320D(1)		endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		TTATTCCTCAACTGTTTTTGT	0.368																																					p.V320D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T959A	8						.						246.0	227.0	233.0					8																	30854119		2203	4300	6503	30973661	SO:0001583	missense	29942	exon2			AF195513	CCDS34878.1, CCDS6081.1	8p11	2004-02-09			ENSG00000172733	ENSG00000172733			17930	protein-coding gene	gene with protein product						12034829	Standard	NM_013357		Approved	PURG-A, PURG-B	uc003xin.3	Q9UJV8	OTTHUMG00000157357	ENST00000339382.2:c.959T>A	8.37:g.30854119A>T	ENSP00000345168:p.Val320Asp		30973661	NM_001015508	Q8TE64	Missense_Mutation	SNP	ENST00000339382.2	37	CCDS34878.1	.	.	.	.	.	.	.	.	.	.	A	10.55	1.381881	0.24944	.	.	ENSG00000172733	ENST00000339382	T	0.24538	1.85	5.34	2.69	0.31865	.	2.199730	0.02495	N	0.089866	T	0.25121	0.0610	.	.	.	0.80722	D	1	P	0.34684	0.463	B	0.35470	0.203	T	0.28364	-1.0046	9	0.87932	D	0	.	5.3547	0.16055	0.7383:0.0:0.2616:0.0	.	320	Q9UJV8-2	.	D	320	ENSP00000345168:V320D	ENSP00000345168:V320D	V	-	2	0	PURG	30973661	0.998000	0.40836	1.000000	0.80357	0.985000	0.73830	0.772000	0.26647	0.975000	0.38392	-0.256000	0.11100	GTT		0.368	PURG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000348564.1	NM_013357	
MAK16	84549	broad.mit.edu	37	8	33346653	33346653	+	Silent	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:33346653C>A	ENST00000360128.6	+	5	845	c.388C>A	c.(388-390)Cga>Aga	p.R130R	TTI2_ENST00000519356.1_Intron	NM_032509.3	NP_115898.2	Q9BXY0	MAK16_HUMAN	MAK16 homolog (S. cerevisiae)	130						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R130R(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						TACACTAAAGCGACAGTAAGT	0.343																																					p.R130R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C388A	8						.						93.0	90.0	91.0					8																	33346653		2203	4300	6503	33466195	SO:0001819	synonymous_variant	84549	exon5			AF251062	CCDS6089.1	8p12	2011-10-13	2008-06-04	2008-06-04	ENSG00000198042	ENSG00000198042		"""RNA binding motif (RRM) containing"""	13703	protein-coding gene	gene with protein product			"""RNA binding motif protein 13"""	RBM13			Standard	NM_032509		Approved	MAK16L	uc003xjj.3	Q9BXY0	OTTHUMG00000163957	ENST00000360128.6:c.388C>A	8.37:g.33346653C>A			33466195	NM_032509	B2RB44|Q5U5T1|Q86UC4|Q96SY6	Silent	SNP	ENST00000360128.6	37	CCDS6089.1																																																																																				0.343	MAK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376559.3	NM_032509	
KCNU1	157855	broad.mit.edu	37	8	36763287	36763287	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:36763287T>C	ENST00000399881.3	+	20	2108	c.2071T>C	c.(2071-2073)Tgg>Cgg	p.W691R		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	691					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.W691R(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GATGTTTCACTGGTGCAAACC	0.398																																					p.W691R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T2071C	8						.						160.0	151.0	154.0					8																	36763287		1931	4128	6059	36882445	SO:0001583	missense	157855	exon20			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2071T>C	8.37:g.36763287T>C	ENSP00000382770:p.Trp691Arg		36882445	NM_001031836		Missense_Mutation	SNP	ENST00000399881.3	37	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	T	18.70	3.679942	0.68042	.	.	ENSG00000215262	ENST00000399881	T	0.48836	0.8	5.26	5.26	0.73747	.	0.000000	0.36591	U	0.002516	T	0.71160	0.3307	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76708	-0.2860	10	0.87932	D	0	-3.6192	13.499	0.61442	0.0:0.0:0.0:1.0	.	691	A8MYU2	KCNU1_HUMAN	R	691	ENSP00000382770:W691R	ENSP00000382770:W691R	W	+	1	0	KCNU1	36882445	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	6.298000	0.72763	1.991000	0.58162	0.529000	0.55759	TGG		0.398	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836	
DDHD2	23259	broad.mit.edu	37	8	38095669	38095669	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:38095669G>T	ENST00000397166.2	+	5	1089	c.564G>T	c.(562-564)caG>caT	p.Q188H	DDHD2_ENST00000520272.2_Missense_Mutation_p.Q188H	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	188					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.Q188H(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			CCACGGAGCAGGGTCGACCAA	0.408																																					p.Q188H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G564T	8						.						223.0	202.0	209.0					8																	38095669		2203	4300	6503	38214826	SO:0001583	missense	23259	exon5			AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"""Sterile alpha motif (SAM) domain containing"""	29106	protein-coding gene	gene with protein product		615003	"""SAM, WWE and DDHD domain containing 1"""	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.564G>T	8.37:g.38095669G>T	ENSP00000380352:p.Gln188His		38214826	NM_001164232	B3KWV2|B3KXB5|Q9H8X7	Missense_Mutation	SNP	ENST00000397166.2	37	CCDS34883.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.923080	0.33908	.	.	ENSG00000085788	ENST00000397166;ENST00000532222;ENST00000520272	T;T;T	0.36340	1.26;1.26;1.26	5.91	1.33	0.21861	.	0.000000	0.85682	D	0.000000	T	0.52996	0.1769	M	0.71036	2.16	0.80722	D	1	B;D	0.89917	0.027;1.0	B;D	0.83275	0.014;0.996	T	0.46247	-0.9205	10	0.38643	T	0.18	-17.812	9.67	0.40006	0.5626:0.0:0.4374:0.0	.	188;188	O94830;E9PKE6	DDHD2_HUMAN;.	H	188	ENSP00000380352:Q188H;ENSP00000433578:Q188H;ENSP00000429932:Q188H	ENSP00000380352:Q188H	Q	+	3	2	DDHD2	38214826	0.866000	0.29940	1.000000	0.80357	0.513000	0.34164	-0.025000	0.12413	0.197000	0.20387	-0.252000	0.11476	CAG		0.408	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2	XM_291291	
FGFR1	2260	broad.mit.edu	37	8	38285864	38285864	+	Splice_Site	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:38285864G>A	ENST00000447712.2	-	4	1389	c.448C>T	c.(448-450)Ccc>Tcc	p.P150S	RP11-350N15.4_ENST00000528407.1_RNA|FGFR1_ENST00000335922.5_Splice_Site_p.P142S|FGFR1_ENST00000397113.2_Intron|FGFR1_ENST00000397103.1_Intron|FGFR1_ENST00000532791.1_Splice_Site_p.P150S|FGFR1_ENST00000356207.5_Splice_Site_p.P61S|FGFR1_ENST00000397108.4_Intron|FGFR1_ENST00000425967.3_Intron|FGFR1_ENST00000341462.5_Intron|FGFR1_ENST00000326324.6_Intron|FGFR1_ENST00000397091.5_Intron	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	150					angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.P150S(5)|p.P61S(2)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	AGTGTCTCACGCATACGGTTT	0.512		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""																														p.P61S	Melanoma(146;1153 1840 21453 21841 43625)		Dom	yes		8	8p11.2-p11.1	2260	fibroblast growth factor receptor 1	yes	L	.	.	7	Substitution - Missense(7)	large_intestine(7)	c.C181T	8						.						248.0	257.0	254.0					8																	38285864		2003	4169	6172	38405021	SO:0001630	splice_region_variant	2260	exon3			M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.448+1C>T	8.37:g.38285864G>A			38405021	NM_001174066	A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Missense_Mutation	SNP	ENST00000447712.2	37	CCDS6107.2	.	.	.	.	.	.	.	.	.	.	G	14.89	2.670335	0.47677	.	.	ENSG00000077782	ENST00000447712;ENST00000310729;ENST00000532791;ENST00000356207;ENST00000335922;ENST00000525001;ENST00000529552	T;T;T;T;T;T	0.79352	-1.25;-1.25;-1.19;-1.26;-1.08;-0.93	5.63	4.76	0.60689	.	0.282088	0.40385	N	0.001112	T	0.66858	0.2832	N	0.24115	0.695	0.80722	D	1	P;D;P;P;P;P	0.54601	0.945;0.967;0.868;0.472;0.84;0.663	B;P;P;B;B;B	0.47981	0.277;0.563;0.508;0.098;0.064;0.247	T	0.64546	-0.6382	9	.	.	.	.	7.2257	0.26014	0.2601:0.0:0.7399:0.0	.	61;61;61;142;61;150	B5A959;P11362-3;P11362-4;P11362-20;P11362-16;P11362-2	.;.;.;.;.;.	S	150;150;150;61;142;150;61	ENSP00000400162:P150S;ENSP00000432972:P150S;ENSP00000348537:P61S;ENSP00000337247:P142S;ENSP00000434712:P150S;ENSP00000435283:P61S	.	P	-	1	0	FGFR1	38405021	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.166000	0.50785	1.392000	0.46585	0.563000	0.77884	CCC		0.512	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			Missense_Mutation
ADAM32	203102	broad.mit.edu	37	8	39079188	39079188	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:39079188A>T	ENST00000379907.4	+	13	1420	c.1293A>T	c.(1291-1293)aaA>aaT	p.K431N	ADAM32_ENST00000519315.1_Missense_Mutation_p.K325N|ADAM32_ENST00000437682.2_Missense_Mutation_p.K332N	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	431	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.					integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.K430N(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			ACGGAGCAAAATGTTATAAAG	0.348																																					p.K431N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1293T	8						.						126.0	117.0	120.0					8																	39079188		1880	4106	5986	39198345	SO:0001583	missense	203102	exon13			BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"""ADAM metallopeptidase domain containing"""	15479	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 32"""			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.1293A>T	8.37:g.39079188A>T	ENSP00000369238:p.Lys431Asn		39198345	NM_145004	Q8TC42	Missense_Mutation	SNP	ENST00000379907.4	37	CCDS47846.1	.	.	.	.	.	.	.	.	.	.	A	4.390	0.071955	0.08436	.	.	ENSG00000197140	ENST00000437682;ENST00000519315;ENST00000379907	T;T;T	0.11712	2.75;2.75;2.75	4.88	-9.76	0.00503	Blood coagulation inhibitor, Disintegrin (5);	.	.	.	.	T	0.05135	0.0137	N	0.20807	0.61	0.09310	N	1	B;B;B	0.17038	0.02;0.02;0.001	B;B;B	0.19666	0.026;0.026;0.015	T	0.32134	-0.9918	9	0.15952	T	0.53	.	8.912	0.35559	0.1379:0.0886:0.5916:0.1819	.	332;325;431	E7EPX8;E7ER82;Q8TC27	.;.;ADA32_HUMAN	N	332;325;431	ENSP00000405978:K332N;ENSP00000429422:K325N;ENSP00000369238:K431N	ENSP00000369238:K431N	K	+	3	2	ADAM32	39198345	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.261000	0.00264	-3.521000	0.00148	-0.290000	0.09829	AAA		0.348	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1	NM_145004	
ADAM18	8749	broad.mit.edu	37	8	39442830	39442830	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:39442830C>T	ENST00000265707.5	+	2	136	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000520772.1_Missense_Mutation_p.R31W|ADAM18_ENST00000379866.1_Missense_Mutation_p.R31W	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	31					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R31W(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CACAGTTCCACGGAAGATTAA	0.343																																					p.R31W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C91T	8						.						112.0	109.0	110.0					8																	39442830		2203	4300	6503	39561987	SO:0001583	missense	8749	exon2			AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.91C>T	8.37:g.39442830C>T	ENSP00000265707:p.Arg31Trp		39561987	NM_001190956	B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	37	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	C	1.500	-0.552412	0.03996	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000520772	T;T;T	0.06687	3.27;3.27;3.27	3.73	-0.747	0.11091	Peptidase M12B, propeptide (1);	1.441290	0.04983	N	0.465987	T	0.07908	0.0198	L	0.39326	1.205	0.09310	N	0.999999	B;B;B	0.22146	0.052;0.064;0.065	B;B;B	0.24848	0.019;0.032;0.056	T	0.42103	-0.9471	10	0.54805	T	0.06	.	2.9815	0.05955	0.3605:0.4136:0.0:0.226	.	31;31;31	Q9Y3Q7-2;Q9Y3Q7;Q6IRW9	.;ADA18_HUMAN;.	W	31	ENSP00000265707:R31W;ENSP00000369195:R31W;ENSP00000429908:R31W	ENSP00000265707:R31W	R	+	1	2	ADAM18	39561987	0.003000	0.15002	0.001000	0.08648	0.003000	0.03518	-0.318000	0.08050	-0.283000	0.09115	-0.485000	0.04761	CGG		0.343	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237	
ADAM18	8749	broad.mit.edu	37	8	39466568	39466568	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:39466568T>G	ENST00000265707.5	+	4	241	c.196T>G	c.(196-198)Tta>Gta	p.L66V	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000520772.1_Missense_Mutation_p.L66V|ADAM18_ENST00000379866.1_Missense_Mutation_p.L66V	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	66					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L66V(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TAGATCATTCTTACCCCAGAA	0.229																																					p.L66V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T196G	8						.						51.0	52.0	52.0					8																	39466568		2197	4287	6484	39585725	SO:0001583	missense	8749	exon4			AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.196T>G	8.37:g.39466568T>G	ENSP00000265707:p.Leu66Val		39585725	NM_001190956	B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	37	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	T	9.468	1.094854	0.20471	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000520772;ENST00000522198	T;T;T	0.07444	3.19;3.19;3.19	4.53	-0.7	0.11273	Peptidase M12B, propeptide (1);	0.225908	0.22763	N	0.055936	T	0.13927	0.0337	L	0.60455	1.87	0.22954	N	0.998511	P;P;B	0.40681	0.681;0.727;0.177	P;P;B	0.54924	0.652;0.764;0.371	T	0.10042	-1.0647	10	0.37606	T	0.19	.	4.3431	0.11119	0.0:0.2827:0.1831:0.5342	.	66;66;66	Q9Y3Q7-2;Q9Y3Q7;Q6IRW9	.;ADA18_HUMAN;.	V	66;66;66;22	ENSP00000265707:L66V;ENSP00000369195:L66V;ENSP00000429908:L66V	ENSP00000265707:L66V	L	+	1	2	ADAM18	39585725	0.832000	0.29368	0.091000	0.20842	0.010000	0.07245	0.239000	0.18023	-0.104000	0.12154	-0.256000	0.11100	TTA		0.229	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237	
KAT6A	7994	broad.mit.edu	37	8	41790674	41790674	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:41790674C>T	ENST00000396930.3	-	18	5607	c.5064G>A	c.(5062-5064)caG>caA	p.Q1688Q	KAT6A_ENST00000265713.2_Silent_p.Q1688Q|KAT6A_ENST00000406337.1_Silent_p.Q1688Q	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1688	Gln/Pro-rich.|Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.Q1688Q(1)									gtggaggctgctggggctgag	0.642																																					p.Q1688Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G5064A	8						.						13.0	14.0	13.0					8																	41790674		2183	4273	6456	41909831	SO:0001819	synonymous_variant	7994	exon18			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5064G>A	8.37:g.41790674C>T			41909831	NM_001099413	Q76L81	Silent	SNP	ENST00000396930.3	37	CCDS6124.1																																																																																				0.642	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766	
DKK4	27121	broad.mit.edu	37	8	42231673	42231673	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:42231673G>A	ENST00000220812.2	-	4	806	c.620C>T	c.(619-621)aCc>aTc	p.T207I		NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	dickkopf WNT signaling pathway inhibitor 4	207	DKK-type Cys-2.				multicellular organismal development (GO:0007275)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)		p.T207I(1)		NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			CCGATTGCTGGTCAATTGGCT	0.438																																					p.T207I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C620T	8						.						91.0	93.0	92.0					8																	42231673		2203	4300	6503	42350830	SO:0001583	missense	27121	exon4			AF177397	CCDS6130.1	8p11.2-p11.1	2013-05-15	2013-05-15		ENSG00000104371	ENSG00000104371			2894	protein-coding gene	gene with protein product		605417	"""dickkopf (Xenopus laevis) homolog 4"", ""dickkopf homolog 4 (Xenopus laevis)"""			10570958, 11701963	Standard	NM_014420		Approved		uc003xpb.3	Q9UBT3	OTTHUMG00000164167	ENST00000220812.2:c.620C>T	8.37:g.42231673G>A	ENSP00000220812:p.Thr207Ile		42350830	NM_014420	Q3KNX0|Q9Y4C3	Missense_Mutation	SNP	ENST00000220812.2	37	CCDS6130.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664194	0.47572	.	.	ENSG00000104371	ENST00000220812	T	0.31247	1.5	5.81	4.94	0.65067	.	0.389057	0.24933	N	0.034458	T	0.30978	0.0782	L	0.56769	1.78	0.09310	N	1	B	0.15930	0.015	B	0.15052	0.012	T	0.25572	-1.0128	10	0.59425	D	0.04	-2.3852	10.9566	0.47362	0.0857:0.0:0.9143:0.0	.	207	Q9UBT3	DKK4_HUMAN	I	207	ENSP00000220812:T207I	ENSP00000220812:T207I	T	-	2	0	DKK4	42350830	0.006000	0.16342	0.002000	0.10522	0.001000	0.01503	1.509000	0.35780	1.459000	0.47892	0.655000	0.94253	ACC		0.438	DKK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377563.1		
HOOK3	84376	broad.mit.edu	37	8	42819597	42819597	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:42819597G>A	ENST00000307602.4	+	9	959	c.759G>A	c.(757-759)caG>caA	p.Q253Q		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	253					cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)	p.Q253Q(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			AATTAGAACAGCTCCAAGAAG	0.358			T	RET	papillary thyroid																																p.Q253Q			Dom	yes		8	8p11.21	84376	hook homolog 3		E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G759A	8						.						77.0	77.0	77.0					8																	42819597		2203	4300	6503	42938754	SO:0001819	synonymous_variant	84376	exon9			AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"""hook homolog 3 (Drosophila)"""			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.759G>A	8.37:g.42819597G>A			42938754	NM_032410	D3DSY8|Q8NBH0|Q9BY13	Silent	SNP	ENST00000307602.4	37	CCDS6139.1																																																																																				0.358	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410	
PRKDC	5591	broad.mit.edu	37	8	48761796	48761796	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:48761796A>G	ENST00000314191.2	-	55	7252	c.7196T>C	c.(7195-7197)gTg>gCg	p.V2399A	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.V2399A	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2400					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.V2400A(1)|p.V2399A(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	ACAAAGTACCACCTCCAGACA	0.488								Non-homologous end-joining																													p.W2400R	Esophageal Squamous(79;1091 1253 12329 31680 40677)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T7198C	8						.						133.0	125.0	128.0					8																	48761796		1947	4152	6099	48924349	SO:0001583	missense	5591	exon54				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.7196T>C	8.37:g.48761796A>G	ENSP00000313420:p.Val2399Ala		48924349	NM_001081640	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37		.	.	.	.	.	.	.	.	.	.	A	15.67	2.903552	0.52333	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.33216	1.42;1.42	4.82	3.66	0.41972	Armadillo-type fold (1);	0.276731	0.30752	N	0.008948	T	0.30665	0.0772	M	0.63428	1.95	0.32357	N	0.557727	P;P	0.42296	0.775;0.775	B;B	0.40410	0.328;0.243	T	0.43556	-0.9384	10	0.45353	T	0.12	.	9.6172	0.39698	0.9162:0.0:0.0838:0.0	.	2399;2400	E7EUY0;P78527	.;PRKDC_HUMAN	A	2399	ENSP00000313420:V2399A;ENSP00000345182:V2399A	ENSP00000313420:V2399A	V	-	2	0	PRKDC	48924349	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	5.306000	0.65756	0.787000	0.33731	0.460000	0.39030	GTG		0.488	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640	
PXDNL	137902	broad.mit.edu	37	8	52384827	52384827	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:52384827C>T	ENST00000356297.4	-	8	832	c.732G>A	c.(730-732)gaG>gaA	p.E244E	PXDNL_ENST00000543296.1_Silent_p.E244E	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	244	Ig-like C2-type 1.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.E244E(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTGATGGTACCTCCACATCCT	0.433																																					p.E244E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G732A	8						.						152.0	142.0	145.0					8																	52384827		1871	4084	5955	52547380	SO:0001819	synonymous_variant	137902	exon8				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.732G>A	8.37:g.52384827C>T			52547380	NM_144651	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	CCDS47855.1																																																																																				0.433	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651	
CA8	767	broad.mit.edu	37	8	61178587	61178587	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:61178587G>T	ENST00000317995.4	-	3	578	c.314C>A	c.(313-315)cCt>cAt	p.P105H		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	105					one-carbon metabolic process (GO:0006730)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasm (GO:0005737)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.P105H(1)		endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)			Zonisamide(DB00909)	ATGCCCTTGAGGCAATGGTCC	0.383																																					p.P105H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C314A	8						.						66.0	63.0	64.0					8																	61178587		2203	4300	6503	61341141	SO:0001583	missense	767	exon3			L04656	CCDS6174.1	8q12.1	2012-08-21			ENSG00000178538	ENSG00000178538		"""Carbonic anhydrases"""	1382	protein-coding gene	gene with protein product		114815		CALS		17219437	Standard	NM_004056		Approved	CARP	uc003xtz.1	P35219	OTTHUMG00000165325	ENST00000317995.4:c.314C>A	8.37:g.61178587G>T	ENSP00000314407:p.Pro105His		61341141	NM_004056	A8K0A5|B3KQZ7|Q32MY2	Missense_Mutation	SNP	ENST00000317995.4	37	CCDS6174.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989294	0.93106	.	.	ENSG00000178538	ENST00000317995	T	0.67345	-0.26	5.58	5.58	0.84498	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	T	0.79678	0.4487	M	0.72118	2.19	0.80722	D	1	D	0.57571	0.98	P	0.58780	0.845	T	0.80821	-0.1211	10	0.62326	D	0.03	.	19.5923	0.95520	0.0:0.0:1.0:0.0	.	105	P35219	CAH8_HUMAN	H	105	ENSP00000314407:P105H	ENSP00000314407:P105H	P	-	2	0	CA8	61341141	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.644000	0.89710	0.557000	0.71058	CCT		0.383	CA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383445.1		
ASPH	444	broad.mit.edu	37	8	62475357	62475357	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:62475357G>A	ENST00000379454.4	-	18	1570	c.1383C>T	c.(1381-1383)ggC>ggT	p.G461G	ASPH_ENST00000541428.1_Silent_p.G432G	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	461					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)	p.G461G(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GGTATCCCACGCCAAGGTCAT	0.383																																					p.G461G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1383T	8						.						137.0	132.0	134.0					8																	62475357		2203	4300	6503	62637911	SO:0001819	synonymous_variant	444	exon18			AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.1383C>T	8.37:g.62475357G>A			62637911	NM_004318	A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Silent	SNP	ENST00000379454.4	37	CCDS34898.1																																																																																				0.383	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318	
TTPA	7274	broad.mit.edu	37	8	63978464	63978464	+	Splice_Site	SNP	G	G	A	rs202136581		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:63978464G>A	ENST00000260116.4	-	3	582	c.551C>T	c.(550-552)aCg>aTg	p.T184M	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	184	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)	p.T184M(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	TACATTTACCGTAAGTACAGC	0.343													G|||	1	0.000199681	0.0	0.0	5008	,	,		16691	0.001		0.0	False		,,,				2504	0.0				p.T184M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C551T	8						.						98.0	89.0	92.0					8																	63978464		2203	4300	6503	64141018	SO:0001630	splice_region_variant	7274	exon3			BC058000	CCDS6178.1	8q12.3	2007-07-18	2007-07-16			ENSG00000137561			12404	protein-coding gene	gene with protein product		600415	"""ataxia (Friedreich-like) with vitamin E deficiency"""	AVED		7719340, 7887897	Standard	NM_000370		Approved		uc003xux.2	P49638		ENST00000260116.4:c.552+1C>T	8.37:g.63978464G>A			64141018	NM_000370	Q71V64	Missense_Mutation	SNP	ENST00000260116.4	37	CCDS6178.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	17.20	3.329876	0.60743	.	.	ENSG00000137561	ENST00000260116	D	0.84660	-1.88	5.54	4.66	0.58398	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.154732	0.64402	D	0.000020	T	0.79896	0.4525	L	0.55834	1.745	0.80722	D	1	P	0.43788	0.817	B	0.33295	0.161	D	0.83901	0.0290	10	0.72032	D	0.01	.	14.6502	0.68792	0.0709:0.0:0.9291:0.0	.	184	P49638	TTPA_HUMAN	M	184	ENSP00000260116:T184M	ENSP00000260116:T184M	T	-	2	0	TTPA	64141018	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.104000	0.71498	2.600000	0.87896	0.655000	0.94253	ACG		0.343	TTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378460.1	NM_000370	Missense_Mutation
DNAJC5B	85479	broad.mit.edu	37	8	66963825	66963825	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:66963825A>G	ENST00000276570.5	+	3	330	c.43A>G	c.(43-45)Aca>Gca	p.T15A	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	15						membrane (GO:0016020)		p.T15A(1)		endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			GACTCTGTCAACAACAGGAGA	0.398																																					p.T15A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A43G	8						.						137.0	126.0	130.0					8																	66963825		2203	4300	6503	67126379	SO:0001583	missense	85479	exon3			AF368276	CCDS6183.1	8q13.1	2012-10-02			ENSG00000147570	ENSG00000147570		"""Heat shock proteins / DNAJ (HSP40)"""	24138	protein-coding gene	gene with protein product		613945				12477932	Standard	NM_033105		Approved	MGC26226, CSP-beta	uc003xvs.1	Q9UF47	OTTHUMG00000164470	ENST00000276570.5:c.43A>G	8.37:g.66963825A>G	ENSP00000276570:p.Thr15Ala		67126379	NM_033105	Q969Y8	Missense_Mutation	SNP	ENST00000276570.5	37	CCDS6183.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.671244	0.47781	.	.	ENSG00000147570	ENST00000276570;ENST00000522619	T;T	0.71698	-0.59;-0.04	5.88	4.74	0.60224	Heat shock protein DnaJ, N-terminal (1);	0.060698	0.64402	D	0.000005	T	0.52484	0.1737	N	0.13272	0.32	0.46542	D	0.999099	B	0.14012	0.009	B	0.19666	0.026	T	0.51348	-0.8717	10	0.44086	T	0.13	.	9.8113	0.40824	0.9221:0.0:0.0779:0.0	.	15	Q9UF47	DNJ5B_HUMAN	A	15	ENSP00000276570:T15A;ENSP00000430196:T15A	ENSP00000276570:T15A	T	+	1	0	DNAJC5B	67126379	0.999000	0.42202	0.996000	0.52242	0.934000	0.57294	4.363000	0.59473	2.252000	0.74401	0.460000	0.39030	ACA		0.398	DNAJC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378915.1	NM_033105	
MSC	9242	broad.mit.edu	37	8	72754935	72754935	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:72754935T>G	ENST00000325509.4	-	2	871	c.582A>C	c.(580-582)gaA>gaC	p.E194D	RP11-383H13.1_ENST00000524152.1_5'Flank|MSC_ENST00000518440.1_5'UTR|RP11-383H13.1_ENST00000537896.1_5'Flank|RP11-383H13.1_ENST00000521467.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	194					branchiomeric skeletal muscle development (GO:0014707)|diaphragm development (GO:0060539)|palate development (GO:0060021)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.E194D(1)		endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			CTGCGGAAACTTCTTTGGTGT	0.473																																					p.E194D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A582C	8						.						356.0	355.0	355.0					8																	72754935		1952	4138	6090	72917489	SO:0001583	missense	9242	exon2				CCDS43746.1	8q13.3	2013-06-07	2010-04-28		ENSG00000178860	ENSG00000178860		"""Basic helix-loop-helix proteins"""	7321	protein-coding gene	gene with protein product	"""activated B-cell factor-1"""	603628	"""musculin (activated B-cell factor-1)"""			9584154, 10198176	Standard	NM_005098		Approved	ABF-1, bHLHa22	uc003xyx.1	O60682	OTTHUMG00000164489	ENST00000325509.4:c.582A>C	8.37:g.72754935T>G	ENSP00000321445:p.Glu194Asp		72917489	NM_005098	O75946|Q53XZ2|Q9BRE7	Missense_Mutation	SNP	ENST00000325509.4	37	CCDS43746.1	.	.	.	.	.	.	.	.	.	.	T	12.69	2.014677	0.35511	.	.	ENSG00000178860	ENST00000325509	D	0.97480	-4.4	4.88	-5.2	0.02823	.	4.456640	0.00465	N	0.000116	D	0.91348	0.7271	L	0.28192	0.835	0.23445	N	0.997668	B	0.06786	0.001	B	0.04013	0.001	T	0.82493	-0.0430	10	0.30854	T	0.27	.	0.7142	0.00929	0.2764:0.1292:0.2585:0.3359	.	194	O60682	MUSC_HUMAN	D	194	ENSP00000321445:E194D	ENSP00000321445:E194D	E	-	3	2	MSC	72917489	0.113000	0.22115	0.968000	0.41197	0.984000	0.73092	-0.823000	0.04443	-0.568000	0.06038	-0.464000	0.05259	GAA		0.473	MSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378974.1	NM_005098	
JPH1	56704	broad.mit.edu	37	8	75157034	75157034	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:75157034C>A	ENST00000342232.4	-	4	1675	c.1635G>T	c.(1633-1635)gaG>gaT	p.E545D	JPH1_ENST00000518195.1_5'Flank	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	545					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.E545D(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GAGAATGCAGCTCCCCGTTAC	0.607																																					p.E545D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1635T	8						.						67.0	58.0	61.0					8																	75157034		2203	4300	6503	75319588	SO:0001583	missense	56704	exon4			AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.1635G>T	8.37:g.75157034C>A	ENSP00000344488:p.Glu545Asp		75319588	NM_020647	B2RTZ0	Missense_Mutation	SNP	ENST00000342232.4	37	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.840895	0.71488	.	.	ENSG00000104369	ENST00000342232	T	0.58506	0.33	5.38	2.63	0.31362	.	0.053822	0.64402	D	0.000001	T	0.53786	0.1818	L	0.53249	1.67	0.51482	D	0.999923	D	0.62365	0.991	P	0.48063	0.565	T	0.48514	-0.9029	10	0.35671	T	0.21	.	8.7234	0.34454	0.0:0.711:0.0:0.289	.	545	Q9HDC5	JPH1_HUMAN	D	545	ENSP00000344488:E545D	ENSP00000344488:E545D	E	-	3	2	JPH1	75319588	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.660000	0.37397	0.408000	0.25621	0.655000	0.94253	GAG		0.607	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1		
ZFHX4	79776	broad.mit.edu	37	8	77617774	77617774	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:77617774A>C	ENST00000521891.2	+	2	1899	c.1451A>C	c.(1450-1452)gAc>gCc	p.D484A	ZFHX4_ENST00000050961.6_Missense_Mutation_p.D484A|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D484A|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D484A|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	484					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAACTTGATGACGAGGAAGTA	0.428										HNSCC(33;0.089)																											p.D484A												.	.	0			c.A1451C	8						.						61.0	63.0	62.0					8																	77617774		2012	4173	6185	77780329	SO:0001583	missense	79776	exon2				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1451A>C	8.37:g.77617774A>C	ENSP00000430497:p.Asp484Ala		77780329	NM_024721	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	11.29	1.595646	0.28445	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.56611	0.45;0.53;0.5;0.5	5.65	5.65	0.86999	.	0.000000	0.46442	U	0.000290	T	0.41003	0.1140	N	0.24115	0.695	0.53688	D	0.999976	B;B;B;B	0.33549	0.172;0.264;0.417;0.102	B;B;B;B	0.31101	0.058;0.085;0.124;0.115	T	0.42916	-0.9423	10	0.66056	D	0.02	.	16.0399	0.80667	1.0:0.0:0.0:0.0	.	484;484;484;484	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	A	484	ENSP00000430497:D484A;ENSP00000399605:D484A;ENSP00000050961:D484A;ENSP00000430848:D484A	ENSP00000050961:D484A	D	+	2	0	ZFHX4	77780329	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	8.761000	0.91691	2.371000	0.80710	0.533000	0.62120	GAC		0.428	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
ZFHX4	79776	broad.mit.edu	37	8	77618740	77618740	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:77618740A>C	ENST00000521891.2	+	2	2865	c.2417A>C	c.(2416-2418)cAg>cCg	p.Q806P	ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q806P|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q806P|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q806P|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	806					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.Q806P(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAGCAGATCCAGCATAATCTG	0.488										HNSCC(33;0.089)																											p.Q806P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2417C	8						.						27.0	28.0	27.0					8																	77618740		2056	4211	6267	77781295	SO:0001583	missense	79776	exon2				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.2417A>C	8.37:g.77618740A>C	ENSP00000430497:p.Gln806Pro		77781295	NM_024721	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	10.02	1.237279	0.22711	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.57436	0.4;0.49;0.45;0.47	4.91	4.91	0.64330	.	0.000000	0.41097	U	0.000946	T	0.73241	0.3562	M	0.81942	2.565	0.80722	D	1	D;D;D;D	0.71674	0.99;0.994;0.994;0.998	D;D;D;D	0.75484	0.969;0.986;0.986;0.976	T	0.77803	-0.2451	10	0.72032	D	0.01	.	14.9861	0.71348	1.0:0.0:0.0:0.0	.	806;806;806;806	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	P	806	ENSP00000430497:Q806P;ENSP00000399605:Q806P;ENSP00000050961:Q806P;ENSP00000430848:Q806P	ENSP00000050961:Q806P	Q	+	2	0	ZFHX4	77781295	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.087000	0.94110	2.179000	0.69175	0.477000	0.44152	CAG		0.488	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
ZFHX4	79776	broad.mit.edu	37	8	77763895	77763895	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:77763895G>A	ENST00000521891.2	+	10	5186	c.4738G>A	c.(4738-4740)Gtc>Atc	p.V1580I	ZFHX4_ENST00000050961.6_Missense_Mutation_p.V1535I|ZFHX4_ENST00000518282.1_Missense_Mutation_p.V1554I|ZFHX4_ENST00000455469.2_Missense_Mutation_p.V1535I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1535					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.V1580I(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTCCAGTCCTGTCCCACAAGA	0.418										HNSCC(33;0.089)																											p.V1580I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4738A	8						.						48.0	46.0	47.0					8																	77763895		1939	4164	6103	77926450	SO:0001583	missense	79776	exon10				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4738G>A	8.37:g.77763895G>A	ENSP00000430497:p.Val1580Ile		77926450	NM_024721	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	11.49	1.654382	0.29425	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.50277	0.75;0.8;0.77;0.76	4.39	4.39	0.52855	.	0.000000	0.40064	U	0.001193	T	0.55305	0.1912	L	0.46157	1.445	0.80722	D	1	D;D;D	0.56287	0.958;0.975;0.975	P;P;P	0.54815	0.581;0.761;0.761	T	0.53704	-0.8401	10	0.36615	T	0.2	.	17.4993	0.87727	0.0:0.0:1.0:0.0	.	1535;1535;1580	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	I	1580;1580;1535;1535;1554	ENSP00000430497:V1580I;ENSP00000399605:V1535I;ENSP00000050961:V1535I;ENSP00000430848:V1554I	ENSP00000050961:V1535I	V	+	1	0	ZFHX4	77926450	1.000000	0.71417	0.992000	0.48379	0.676000	0.39594	9.601000	0.98297	2.438000	0.82558	0.555000	0.69702	GTC		0.418	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
TPD52	7163	broad.mit.edu	37	8	80950450	80950450	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:80950450C>T	ENST00000379097.3	-	6	938	c.576G>A	c.(574-576)aaG>aaA	p.K192K	TPD52_ENST00000523395.1_5'UTR|TPD52_ENST00000520527.1_Silent_p.K215K|TPD52_ENST00000519303.2_Silent_p.K28K|TPD52_ENST00000517427.1_Silent_p.K201K|TPD52_ENST00000518937.1_Silent_p.K175K|TPD52_ENST00000448733.2_Silent_p.K206K|TPD52_ENST00000379096.5_Silent_p.K152K|TPD52_ENST00000537855.1_Intron	NM_001025252.1	NP_001020423.1	P55327	TPD52_HUMAN	tumor protein D52	192					anatomical structure morphogenesis (GO:0009653)|B cell differentiation (GO:0030183)|positive regulation of cell proliferation (GO:0008284)|secretion (GO:0046903)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.K192K(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			CACCAGCAGGCTTGGTTCCCC	0.423																																					p.K192K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G576A	8						.						90.0	82.0	85.0					8																	80950450		2203	4300	6503	81113005	SO:0001819	synonymous_variant	7163	exon6			U18914	CCDS34912.1, CCDS47879.1, CCDS55249.1, CCDS75757.1, CCDS75758.1, CCDS75759.1	8q21.13	2014-06-24			ENSG00000076554	ENSG00000076554			12005	protein-coding gene	gene with protein product		604068				7796418	Standard	NM_001287144		Approved	D52, hD52, N8L	uc003ybr.1	P55327	OTTHUMG00000164565	ENST00000379097.3:c.576G>A	8.37:g.80950450C>T			81113005	NM_001025252	B7Z414|C9J502|D0UFD1|D0UFD2|D0UFD3|D0UFD4|D0UFD5|E5RKB4|Q13056|Q53EK8|Q6FGP3|Q6FGS3|Q86YZ2|Q9UCX8	Silent	SNP	ENST00000379097.3	37	CCDS34912.1																																																																																				0.423	TPD52-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379539.2	NM_005079	
RALYL	138046	broad.mit.edu	37	8	85774628	85774628	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:85774628G>T	ENST00000521268.1	+	6	1616	c.511G>T	c.(511-513)Gga>Tga	p.G171*	RALYL_ENST00000521376.1_Nonsense_Mutation_p.G82*|RALYL_ENST00000518566.1_Nonsense_Mutation_p.G160*|RALYL_ENST00000522455.1_Nonsense_Mutation_p.G171*|RALYL_ENST00000517638.1_Nonsense_Mutation_p.G184*|RALYL_ENST00000523850.1_Nonsense_Mutation_p.G98*|RALYL_ENST00000521695.1_Nonsense_Mutation_p.G171*	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	171							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G171*(2)		endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CAGGGGGAAAGGAGTCTTTTC	0.483																																					p.G171X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G511T	8						.						65.0	70.0	68.0					8																	85774628		1925	4141	6066	85937183	SO:0001587	stop_gained	138046	exon7				CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"""RNA binding motif (RRM) containing"""	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.511G>T	8.37:g.85774628G>T	ENSP00000430367:p.Gly171*		85937183	NM_001100392	B3KTH2|G3V129|Q6ZW87|Q8N1C2	Nonsense_Mutation	SNP	ENST00000521268.1	37	CCDS55253.1	.	.	.	.	.	.	.	.	.	.	G	36	5.668385	0.96754	.	.	ENSG00000184672	ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517638;ENST00000523850;ENST00000521376	.	.	.	5.1	5.1	0.69264	.	0.278871	0.40908	D	0.000995	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-7.1163	18.8851	0.92375	0.0:0.0:1.0:0.0	.	.	.	.	X	171;171;171;160;184;98;82	.	ENSP00000430128:G184X	G	+	1	0	RALYL	85937183	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	5.399000	0.66314	2.511000	0.84671	0.551000	0.68910	GGA		0.483	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1		
ATP6V0D2	245972	broad.mit.edu	37	8	87111289	87111289	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:87111289C>A	ENST00000285393.3	+	1	224	c.82C>A	c.(82-84)Ctg>Atg	p.L28M	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	28					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen ion transmembrane transporter activity (GO:0015078)	p.L28M(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						GGCCAGCCTCCTGACCCAGCA	0.493																																					p.L28M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C82A	8						.						106.0	81.0	90.0					8																	87111289		2203	4300	6503	87180405	SO:0001583	missense	245972	exon1			AY079172	CCDS6241.1	8q21.3	2014-01-28	2006-01-20	2002-05-24	ENSG00000147614	ENSG00000147614		"""ATPases / V-type"""	18266	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 38kD, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D2"""			12384298	Standard	NM_152565		Approved	FLJ38708, VMA6, ATP6D2	uc003ydp.1	Q8N8Y2	OTTHUMG00000163637	ENST00000285393.3:c.82C>A	8.37:g.87111289C>A	ENSP00000285393:p.Leu28Met		87180405	NM_152565		Missense_Mutation	SNP	ENST00000285393.3	37	CCDS6241.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092566	0.76756	.	.	ENSG00000147614	ENST00000521564;ENST00000523635;ENST00000285393	T;T;T	0.61274	0.12;0.12;0.12	5.56	4.68	0.58851	.	0.000000	0.64402	D	0.000009	D	0.82416	0.5032	H	0.96365	3.81	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	D	0.87078	0.2164	10	0.87932	D	0	-8.3312	12.3636	0.55217	0.0:0.9179:0.0:0.0821	.	28	Q8N8Y2	VA0D2_HUMAN	M	28	ENSP00000429731:L28M;ENSP00000428382:L28M;ENSP00000285393:L28M	ENSP00000285393:L28M	L	+	1	2	ATP6V0D2	87180405	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.822000	0.48073	1.345000	0.45676	0.591000	0.81541	CTG		0.493	ATP6V0D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374651.1	NM_152565	
WWP1	11059	broad.mit.edu	37	8	87393743	87393743	+	Silent	SNP	G	G	A	rs559093201		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:87393743G>A	ENST00000517970.1	+	5	526	c.219G>A	c.(217-219)acG>acA	p.T73T	WWP1_ENST00000341922.2_Silent_p.T73T|WWP1_ENST00000523863.1_3'UTR|WWP1_ENST00000265428.4_Silent_p.T73T|WWP1_ENST00000349423.2_Intron	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	73	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.T73T(1)		endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						GAAATGTTACGCCACAGACTA	0.328													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15954	0.0		0.0	False		,,,				2504	0.0				p.T73T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G219A	8						.						72.0	74.0	74.0					8																	87393743		2203	4300	6503	87462859	SO:0001819	synonymous_variant	11059	exon5			AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.219G>A	8.37:g.87393743G>A			87462859	NM_007013	O00307|Q5YLC1|Q96BP4	Silent	SNP	ENST00000517970.1	37	CCDS6242.1																																																																																				0.328	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013	
CNGB3	54714	broad.mit.edu	37	8	87679290	87679290	+	Missense_Mutation	SNP	G	G	A	rs200019416		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:87679290G>A	ENST00000320005.5	-	6	762	c.715C>T	c.(715-717)Cgc>Tgc	p.R239C		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	239					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.R239C(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AAGACGAGGCGCAGTGGTATA	0.423													G|||	1	0.000199681	0.0	0.0	5008	,	,		19967	0.0		0.0	False		,,,				2504	0.001				p.R239C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C715T	8						.	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	110.0	100.0	103.0		715	5.6	1.0	8		103	0,8600		0,0,4300	yes	missense	CNGB3	NM_019098.4	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	239/810	87679290	1,13005	2203	4300	6503	87748406	SO:0001583	missense	54714	exon6			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.715C>T	8.37:g.87679290G>A	ENSP00000316605:p.Arg239Cys		87748406	NM_019098	C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198795	0.79015	2.27E-4	0.0	ENSG00000170289	ENST00000320005	T	0.14391	2.51	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.47358	0.1441	M	0.88241	2.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.55159	-0.8184	10	0.87932	D	0	.	19.4973	0.95079	0.0:0.0:1.0:0.0	.	239;239	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	C	239	ENSP00000316605:R239C	ENSP00000316605:R239C	R	-	1	0	CNGB3	87748406	1.000000	0.71417	0.974000	0.42286	0.694000	0.40290	5.493000	0.66899	2.608000	0.88229	0.655000	0.94253	CGC		0.423	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098	
TMEM55A	55529	broad.mit.edu	37	8	92033557	92033557	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:92033557C>T	ENST00000285419.3	-	2	496	c.182G>A	c.(181-183)tGc>tAc	p.C61Y	GS1-251I9.3_ENST00000517920.1_RNA	NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	61						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)	p.C61Y(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			TAGTGATTGGCACACACGGCA	0.443																																					p.C61Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G182A	8						.						128.0	116.0	120.0					8																	92033557		2203	4300	6503	92102733	SO:0001583	missense	55529	exon2			BC033892	CCDS6252.1	8q21.3	2005-08-09			ENSG00000155099	ENSG00000155099			25452	protein-coding gene	gene with protein product		609864				12477932	Standard	NM_018710		Approved	DKFZp762O076	uc003yes.3	Q8N4L2	OTTHUMG00000164019	ENST00000285419.3:c.182G>A	8.37:g.92033557C>T	ENSP00000285419:p.Cys61Tyr		92102733	NM_018710	B2R9H4|Q68CU2	Missense_Mutation	SNP	ENST00000285419.3	37	CCDS6252.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.077469	0.55753	.	.	ENSG00000155099	ENST00000285419;ENST00000520014	.	.	.	5.37	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.76615	0.4012	M	0.68317	2.08	0.80722	D	1	D	0.62365	0.991	D	0.77557	0.99	T	0.79711	-0.1689	9	0.87932	D	0	-2.7366	14.169	0.65497	0.0:0.9288:0.0:0.0712	.	61	Q8N4L2	TM55A_HUMAN	Y	61;67	.	ENSP00000285419:C61Y	C	-	2	0	TMEM55A	92102733	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	7.320000	0.79064	1.505000	0.48720	-0.142000	0.14014	TGC		0.443	TMEM55A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376778.1	NM_018710	
RBM12B	389677	broad.mit.edu	37	8	94746463	94746463	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:94746463G>T	ENST00000399300.2	-	3	2389	c.2176C>A	c.(2176-2178)Cca>Aca	p.P726T	RBM12B_ENST00000517700.1_Intron|RBM12B_ENST00000520961.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	726							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P726T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TCCTGAGGTGGCCTCCGGAAA	0.642																																					p.P726T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2176A	8						.						89.0	94.0	93.0					8																	94746463		1878	4109	5987	94815639	SO:0001583	missense	389677	exon3				CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.2176C>A	8.37:g.94746463G>T	ENSP00000382239:p.Pro726Thr		94815639	NM_203390	A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737219	0.69304	.	.	ENSG00000183808	ENST00000399300	T	0.08720	3.06	4.02	3.05	0.35203	.	.	.	.	.	T	0.04861	0.0131	N	0.19112	0.55	0.80722	D	1	B	0.20052	0.041	B	0.21360	0.034	T	0.38542	-0.9656	9	0.25751	T	0.34	.	4.8635	0.13596	0.2593:0.0:0.7407:0.0	.	726	Q8IXT5	RB12B_HUMAN	T	726	ENSP00000382239:P726T	ENSP00000382239:P726T	P	-	1	0	RBM12B	94815639	0.000000	0.05858	0.091000	0.20842	0.554000	0.35429	-0.667000	0.05274	1.119000	0.41883	0.563000	0.77884	CCA		0.642	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390	
RBM12B	389677	broad.mit.edu	37	8	94747243	94747243	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:94747243G>A	ENST00000399300.2	-	3	1609	c.1396C>T	c.(1396-1398)Cta>Tta	p.L466L	RBM12B_ENST00000517700.1_Silent_p.L466L|RBM12B_ENST00000520961.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	466	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.L466L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TCTGTCCCTAGGAATCTTCGT	0.398																																					p.L466L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1396T	8						.						149.0	143.0	145.0					8																	94747243		1862	4095	5957	94816419	SO:0001819	synonymous_variant	389677	exon3				CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.1396C>T	8.37:g.94747243G>A			94816419	NM_203390	A8MYB5	Silent	SNP	ENST00000399300.2	37	CCDS43755.1																																																																																				0.398	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390	
CDH17	1015	broad.mit.edu	37	8	95143165	95143165	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:95143165G>A	ENST00000027335.3	-	16	2347	c.2223C>T	c.(2221-2223)gtC>gtT	p.V741V	CDH17_ENST00000441892.2_Silent_p.V527V|CDH17_ENST00000450165.2_Silent_p.V741V	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	741	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)	p.V741V(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GGATCAAGACGACATACTCCC	0.478																																					p.V741V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2223T	8						.						126.0	115.0	119.0					8																	95143165		2203	4300	6503	95212341	SO:0001819	synonymous_variant	1015	exon16			X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.2223C>T	8.37:g.95143165G>A			95212341	NM_001144663	Q15336|Q2M2E0	Silent	SNP	ENST00000027335.3	37	CCDS6260.1																																																																																				0.478	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063	
INTS8	55656	broad.mit.edu	37	8	95892421	95892421	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:95892421delA	ENST00000523731.1	+	27	3080	c.2947delA	c.(2947-2949)aaafs	p.K985fs	INTS8_ENST00000447247.1_Frame_Shift_Del_p.K968fs|CCNE2_ENST00000520509.1_3'UTR	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	985					snRNA processing (GO:0016180)	integrator complex (GO:0032039)		p.K985fs*>11(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					GCAGAGAAGGAAAAAAAAGTT	0.338																																					p.K983fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2947delA	8						.						76.0	76.0	76.0					8																	95892421		2203	4300	6503	95961597	SO:0001589	frameshift_variant	55656	exon27			AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"""chromosome 8 open reading frame 52"""	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.2947delA	8.37:g.95892421delA	ENSP00000430338:p.Lys985fs		95961597	NM_017864	B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Frame_Shift_Del	DEL	ENST00000523731.1	37	CCDS34925.1																																																																																				0.338	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1	NM_017864	
GDF6	392255	broad.mit.edu	37	8	97156925	97156925	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:97156925G>A	ENST00000287020.5	-	2	1333	c.1234C>T	c.(1234-1236)Ccc>Tcc	p.P412S		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	412					activin receptor signaling pathway (GO:0032924)|apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|growth (GO:0040007)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal cell apoptotic process (GO:1990009)	extracellular space (GO:0005615)		p.P412S(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					GTGGAGCCGGGGTCCATGGAG	0.597																																					p.P412S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1234T	8						.						93.0	92.0	92.0					8																	97156925		2203	4300	6503	97226101	SO:0001583	missense	392255	exon2				CCDS34926.1	8q22.1	2014-01-29			ENSG00000156466	ENSG00000156466			4221	protein-coding gene	gene with protein product		601147	"""segmentation syndrome 1"""	SGM1		10022976, 18425797	Standard	NM_001001557		Approved	BMP13, KFS, KFS1	uc003yhp.3	Q6KF10	OTTHUMG00000164710	ENST00000287020.5:c.1234C>T	8.37:g.97156925G>A	ENSP00000287020:p.Pro412Ser		97226101	NM_001001557	Q6PI58	Missense_Mutation	SNP	ENST00000287020.5	37	CCDS34926.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.4|26.4	4.734215|4.734215	0.89482|0.89482	.|.	.|.	ENSG00000156466|ENSG00000156466	ENST00000435084|ENST00000287020	.|D	.|0.85484	.|-1.99	4.95|4.95	4.95|4.95	0.65309|0.65309	.|Transforming growth factor-beta, C-terminal (3);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.91365|0.91365	0.7276|0.7276	M|M	0.67517|0.67517	2.055|2.055	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.91442|0.91442	0.5174|0.5174	7|10	0.56958|0.52906	D|T	0.05|0.07	.|.	17.1426|17.1426	0.86758|0.86758	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|412	.|Q6KF10	.|GDF6_HUMAN	L|S	328|412	.|ENSP00000287020:P412S	ENSP00000412749:P328L|ENSP00000287020:P412S	P|P	-|-	2|1	0|0	GDF6|GDF6	97226101|97226101	1.000000|1.000000	0.71417|0.71417	0.965000|0.965000	0.40720|0.40720	0.962000|0.962000	0.63368|0.63368	9.595000|9.595000	0.98260|0.98260	2.567000|2.567000	0.86603|0.86603	0.650000|0.650000	0.86243|0.86243	CCC|CCC		0.597	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379862.2	NM_001001557	
PTDSS1	9791	broad.mit.edu	37	8	97274309	97274309	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:97274309A>G	ENST00000517309.1	+	1	367	c.41A>G	c.(40-42)gAt>gGt	p.D14G	MTERFD1_ENST00000523821.1_5'Flank|MTERFD1_ENST00000287025.3_5'Flank|PTDSS1_ENST00000455950.2_5'UTR	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	14					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.D14G(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	AGCAAGGATGATGTGAACTAC	0.632																																					p.D14G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A41G	8						.						178.0	140.0	153.0					8																	97274309		2203	4300	6503	97343485	SO:0001583	missense	9791	exon1			D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.41A>G	8.37:g.97274309A>G	ENSP00000430548:p.Asp14Gly		97343485	NM_014754	E5RFC5|Q9BUQ5	Missense_Mutation	SNP	ENST00000517309.1	37	CCDS6271.1	.	.	.	.	.	.	.	.	.	.	A	17.46	3.395545	0.62066	.	.	ENSG00000156471	ENST00000517309	T	0.48522	0.81	4.2	4.2	0.49525	.	0.000000	0.85682	D	0.000000	T	0.37461	0.1004	L	0.41236	1.265	0.80722	D	1	B	0.31026	0.304	B	0.26693	0.072	T	0.33624	-0.9861	10	0.51188	T	0.08	-12.7685	11.9944	0.53194	1.0:0.0:0.0:0.0	.	14	P48651	PTSS1_HUMAN	G	14	ENSP00000430548:D14G	ENSP00000337331:D14G	D	+	2	0	PTDSS1	97343485	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.325000	0.65869	1.761000	0.52028	0.455000	0.32223	GAT		0.632	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2		
CPQ	10404	broad.mit.edu	37	8	97797144	97797144	+	Missense_Mutation	SNP	G	G	A	rs183172032		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:97797144G>A	ENST00000220763.5	+	2	229	c.19G>A	c.(19-21)Gca>Aca	p.A7T		NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	7					peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)	carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803)	p.A7T(1)									CCTTATCTTCGCATTTTTCGG	0.333																																					p.A7T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G19A	8						.						76.0	77.0	76.0					8																	97797144		2203	4300	6503	97866320	SO:0001583	missense	10404	exon2			AF107834	CCDS6273.1	8q22.2	2012-02-17			ENSG00000104324	ENSG00000104324			16910	protein-coding gene	gene with protein product	"""lysosomal dipeptidase"", ""Ser-Met dipeptidase"", ""plasma glutamate carboxypeptidase"""					10206990	Standard	NM_016134		Approved	LDP, PGCP	uc003yhw.3	Q9Y646	OTTHUMG00000164690	ENST00000220763.5:c.19G>A	8.37:g.97797144G>A	ENSP00000220763:p.Ala7Thr		97866320	NM_016134	B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Missense_Mutation	SNP	ENST00000220763.5	37	CCDS6273.1	.	.	.	.	.	.	.	.	.	.	G	3.473	-0.107449	0.06924	.	.	ENSG00000104324	ENST00000220763;ENST00000519900;ENST00000517742;ENST00000519484;ENST00000521142	T;T	0.42131	0.98;0.98	5.48	-5.36	0.02689	.	1.662200	0.03011	N	0.149408	T	0.12732	0.0309	N	0.01352	-0.895	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.10567	-1.0624	10	0.20046	T	0.44	-7.8395	2.3977	0.04394	0.3969:0.2232:0.283:0.0968	.	7;7	B5MDX4;Q9Y646	.;PGCP_HUMAN	T	7	ENSP00000220763:A7T;ENSP00000429146:A7T	ENSP00000220763:A7T	A	+	1	0	AC010859.1	97866320	0.003000	0.15002	0.006000	0.13384	0.202000	0.24057	-0.030000	0.12308	-0.460000	0.07003	-0.440000	0.05779	GCA		0.333	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379757.2	NM_016134	
POP1	10940	broad.mit.edu	37	8	99162835	99162835	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:99162835G>A	ENST00000401707.2	+	14	2106	c.2025G>A	c.(2023-2025)gaG>gaA	p.E675E	POP1_ENST00000349693.3_Silent_p.E675E	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	675			E -> Q (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)	p.E675E(1)		autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			TTGCGGAAGAGCAAGCTAAGA	0.428																																					p.E675E												POP1,breast,NS,Substitution - Missense,+2 	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2025A	8						.						89.0	88.0	88.0					8																	99162835		2203	4300	6503	99232011	SO:0001819	synonymous_variant	10940	exon14			D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"""processing of precursors 1"""	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.2025G>A	8.37:g.99162835G>A			99232011	NM_001145860	A8K5W9|Q15037	Silent	SNP	ENST00000401707.2	37	CCDS6277.1																																																																																				0.428	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	NM_015029	
STK3	6788	broad.mit.edu	37	8	99560334	99560334	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:99560334C>T	ENST00000419617.2	-	9	1144	c.1004G>A	c.(1003-1005)gGc>gAc	p.G335D	STK3_ENST00000523601.1_Missense_Mutation_p.G363D	NM_006281.3	NP_006272.2	Q13188	STK3_HUMAN	serine/threonine kinase 3	335					apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)	p.G335D(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		CCGCATGGTGCCCACACTCTC	0.498																																					p.G335D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1004A	8						.						67.0	64.0	65.0					8																	99560334		1949	4145	6094	99629510	SO:0001583	missense	6788	exon9			BC010640	CCDS47900.1, CCDS59108.1, CCDS75774.1	8q22.2	2011-05-24	2010-06-25		ENSG00000104375	ENSG00000104375			11406	protein-coding gene	gene with protein product		605030	"""serine/threonine kinase 3 (Ste20, yeast homolog)"""			8816758	Standard	NM_006281		Approved	MST2, KRS1	uc003yip.4	Q13188	OTTHUMG00000164651	ENST00000419617.2:c.1004G>A	8.37:g.99560334C>T	ENSP00000390500:p.Gly335Asp		99629510	NM_006281	A8K722|B3KYA7|Q15445|Q15801|Q96FM6	Missense_Mutation	SNP	ENST00000419617.2	37	CCDS47900.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.984250	0.93044	.	.	ENSG00000104375	ENST00000419617;ENST00000523601;ENST00000518165	T;T;T	0.72725	-0.68;-0.68;-0.1	5.74	4.86	0.63082	Protein kinase-like domain (1);	0.170430	0.52532	D	0.000065	T	0.72882	0.3516	M	0.71206	2.165	0.80722	D	1	B;P;B	0.36789	0.025;0.57;0.06	B;B;B	0.40864	0.039;0.342;0.053	T	0.75510	-0.3292	10	0.52906	T	0.07	.	15.037	0.71754	0.0:0.9312:0.0:0.0688	.	224;335;363	E5RFQ9;Q13188;B3KYA7	.;STK3_HUMAN;.	D	335;363;224	ENSP00000390500:G335D;ENSP00000429744:G363D;ENSP00000428014:G224D	ENSP00000390500:G335D	G	-	2	0	STK3	99629510	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.706000	0.68362	2.720000	0.93068	0.650000	0.86243	GGC		0.498	STK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379635.1	NM_006281	
PLEC	5339	broad.mit.edu	37	8	144991078	144991078	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr8:144991078T>A	ENST00000322810.4	-	32	13491	c.13322A>T	c.(13321-13323)gAt>gTt	p.D4441V	PLEC_ENST00000436759.2_Missense_Mutation_p.D4331V|PLEC_ENST00000357649.2_Missense_Mutation_p.D4308V|PLEC_ENST00000354589.3_Missense_Mutation_p.D4304V|PLEC_ENST00000527096.1_Missense_Mutation_p.D4327V|PLEC_ENST00000398774.2_Missense_Mutation_p.D4272V|PLEC_ENST00000356346.3_Missense_Mutation_p.D4290V|PLEC_ENST00000345136.3_Missense_Mutation_p.D4304V|PLEC_ENST00000354958.2_Missense_Mutation_p.D4282V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4441	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.D4331V(1)|p.D4441V(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						CGTGATGTTATCCACCAGGTT	0.672																																					p.D4308V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A12923T	8						.						33.0	39.0	37.0					8																	144991078		2105	4222	6327	145063066	SO:0001583	missense	5339	exon32			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.13322A>T	8.37:g.144991078T>A	ENSP00000323856:p.Asp4441Val		145063066	NM_201383	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	T	6.248	0.413811	0.11812	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72	5.25	5.25	0.73442	.	0.000000	0.64402	U	0.000004	D	0.84383	0.5460	M	0.81341	2.54	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;0.998;0.999;0.999;0.999;0.999	D	0.86626	0.1882	10	0.72032	D	0.01	.	14.9856	0.71345	0.0:0.0:0.0:1.0	.	4331;4290;4282;4441;4272;4304;4308;4304	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	V	4304;4308;4304;4272;4441;4282;4290;4331;4327	ENSP00000344848:D4304V;ENSP00000350277:D4308V;ENSP00000346602:D4304V;ENSP00000381756:D4272V;ENSP00000323856:D4441V;ENSP00000347044:D4282V;ENSP00000348702:D4290V;ENSP00000388180:D4331V;ENSP00000434583:D4327V	ENSP00000323856:D4441V	D	-	2	0	PLEC	145063066	1.000000	0.71417	1.000000	0.80357	0.025000	0.11179	6.072000	0.71238	2.201000	0.70794	0.450000	0.29827	GAT		0.672	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445	
GALNT12	79695	broad.mit.edu	37	9	101606464	101606464	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:101606464C>T	ENST00000375011.3	+	8	1431	c.1431C>T	c.(1429-1431)taC>taT	p.Y477Y		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	477	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.Y477Y(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				TCATTCTGTACCTCTGTCATG	0.388																																					p.Y477Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1431T	9						.						100.0	92.0	95.0					9																	101606464		2203	4300	6503	100646285	SO:0001819	synonymous_variant	79695	exon8			AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19877	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 12"""	610290	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"""			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.1431C>T	9.37:g.101606464C>T			100646285	NM_024642	Q5TCF7|Q8NG54|Q96CT9|Q9H771	Silent	SNP	ENST00000375011.3	37	CCDS6737.1																																																																																				0.388	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053382.1	NM_024642	
DMRT2	10655	broad.mit.edu	37	9	1056222	1056222	+	Missense_Mutation	SNP	G	G	A	rs140044845		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:1056222G>A	ENST00000358146.2	+	3	635	c.635G>A	c.(634-636)cGc>cAc	p.R212H	DMRT2_ENST00000382251.3_Missense_Mutation_p.R212H|DMRT2_ENST00000302441.6_Missense_Mutation_p.R212H|DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000382255.3_3'UTR			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	212					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.R212H(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)		GTAGGCTATCGCCCCATTCCA	0.453																																					p.R212H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G635A	9						.	G	,,HIS/ARG	0,4404		0,0,2202	96.0	100.0	99.0		,,635	5.6	1.0	9	dbSNP_134	99	1,8599	1.2+/-3.3	0,1,4299	no	utr-3,utr-3,missense	DMRT2	NM_001130865.2,NM_006557.6,NM_181872.4	,,29	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,,probably-damaging	,,212/562	1056222	1,13003	2202	4300	6502	1046222	SO:0001583	missense	10655	exon4			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.635G>A	9.37:g.1056222G>A	ENSP00000350865:p.Arg212His		1046222	NM_181872	B1ANC0|B9EGJ1|Q9NPG6|Q9NQR6	Missense_Mutation	SNP	ENST00000358146.2	37	CCDS6444.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.263169	0.80358	0.0	1.16E-4	ENSG00000173253	ENST00000382251;ENST00000302441;ENST00000358146	T;T;T	0.32272	1.46;1.46;1.46	5.57	5.57	0.84162	.	0.143577	0.46758	D	0.000266	T	0.56819	0.2011	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.57423	-0.7814	10	0.66056	D	0.02	-16.6892	19.1563	0.93511	0.0:0.0:1.0:0.0	.	212;56	Q9Y5R5;Q5HYK2	DMRT2_HUMAN;.	H	212	ENSP00000371686:R212H;ENSP00000305785:R212H;ENSP00000350865:R212H	ENSP00000305785:R212H	R	+	2	0	DMRT2	1046222	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.827000	0.99397	2.635000	0.89317	0.585000	0.79938	CGC		0.453	DMRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051492.1	NM_006557	
INVS	27130	broad.mit.edu	37	9	103054875	103054875	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:103054875G>A	ENST00000262457.2	+	14	2521	c.2336G>A	c.(2335-2337)cGg>cAg	p.R779Q	INVS_ENST00000262456.2_Intron|INVS_ENST00000541287.1_Missense_Mutation_p.R683Q	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	779					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.R779Q(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				CCCAGCAGGCGGCATGACACA	0.622																																					p.R779Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2336A	9						.						50.0	51.0	51.0					9																	103054875		2203	4300	6503	102094696	SO:0001583	missense	27130	exon14			AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"""Ankyrin repeat domain containing"""	17870	protein-coding gene	gene with protein product	"""nephrocystin 2"""	243305	"""nephronophthisis 2 (infantile)"""	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.2336G>A	9.37:g.103054875G>A	ENSP00000262457:p.Arg779Gln		102094696	NM_014425	A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Missense_Mutation	SNP	ENST00000262457.2	37	CCDS6746.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.956335	0.53293	.	.	ENSG00000119509	ENST00000262457;ENST00000541287	T;T	0.43688	0.94;0.94	5.55	1.14	0.20703	.	0.481150	0.22978	N	0.053350	T	0.26666	0.0652	L	0.32530	0.975	0.09310	N	1	B;B	0.27971	0.196;0.059	B;B	0.17722	0.019;0.005	T	0.13229	-1.0517	10	0.45353	T	0.12	.	8.1276	0.31008	0.3816:0.0:0.6184:0.0	.	683;779	F5GZH2;Q9Y283	.;INVS_HUMAN	Q	779;683	ENSP00000262457:R779Q;ENSP00000444454:R683Q	ENSP00000262457:R779Q	R	+	2	0	INVS	102094696	0.007000	0.16637	0.046000	0.18839	0.422000	0.31414	0.398000	0.20899	0.314000	0.23086	-0.142000	0.14014	CGG		0.622	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053407.1	NM_014425	
TAL2	6887	broad.mit.edu	37	9	108424993	108424993	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:108424993G>A	ENST00000334077.3	+	1	256	c.216G>A	c.(214-216)ggG>ggA	p.G72G		NM_005421.2	NP_005412.1	Q16559	TAL2_HUMAN	T-cell acute lymphocytic leukemia 2	72					midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)		DNA binding (GO:0003677)	p.G72G(1)									CTGCTCAGGGGAACATTCTGG	0.552			T	TRB@	T-ALL																																p.G72G			Dom	yes		9	9q31	6887	T-cell acute lymphocytic leukemia 2		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G216A	9						.						64.0	64.0	64.0					9																	108424993		2203	4300	6503	107464814	SO:0001819	synonymous_variant	6887	exon1				CCDS6767.1	9q32	2013-05-21			ENSG00000186051	ENSG00000186051		"""Basic helix-loop-helix proteins"""	11557	protein-coding gene	gene with protein product		186855				1763056	Standard	NM_005421		Approved	bHLHa19	uc004bct.3	Q16559	OTTHUMG00000020424	ENST00000334077.3:c.216G>A	9.37:g.108424993G>A			107464814	NM_005421	A0AVI7	Silent	SNP	ENST00000334077.3	37	CCDS6767.1																																																																																				0.552	TAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053504.1	NM_005421	
ZNF462	58499	broad.mit.edu	37	9	109690564	109690564	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:109690564G>A	ENST00000277225.5	+	3	4660	c.4371G>A	c.(4369-4371)caG>caA	p.Q1457Q	ZNF462_ENST00000441147.2_Silent_p.Q302Q|ZNF462_ENST00000457913.1_Silent_p.Q1457Q			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1457					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q1457Q(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AAAGCCTGCAGCTAGCTTCAG	0.527																																					p.Q1457Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4371A	9						.						49.0	51.0	51.0					9																	109690564		2203	4300	6503	108730385	SO:0001819	synonymous_variant	58499	exon3			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.4371G>A	9.37:g.109690564G>A			108730385	NM_021224	Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	CCDS35096.1																																																																																				0.527	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224	
ACTL7A	10881	broad.mit.edu	37	9	111624895	111624895	+	Missense_Mutation	SNP	C	C	T	rs144590040		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:111624895C>T	ENST00000333999.3	+	1	293	c.293C>T	c.(292-294)aCg>aTg	p.T98M		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	98						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|motile cilium (GO:0031514)|nucleus (GO:0005634)|protein complex (GO:0043234)	structural constituent of cytoskeleton (GO:0005200)	p.T98M(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ATCTCAACAACGGTGGGCAAG	0.552																																					p.T98M	Esophageal Squamous(177;1480 3591 17554)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C293T	9						.	C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	82.0	83.0	83.0		293	2.9	0.0	9	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACTL7A	NM_006687.2	81	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	98/436	111624895	2,13004	2203	4300	6503	110664716	SO:0001583	missense	10881	exon1			BC014610	CCDS6772.1	9q31	2008-02-05			ENSG00000187003	ENSG00000187003			161	protein-coding gene	gene with protein product		604303				10373328	Standard	NM_006687		Approved		uc004bdj.1	Q9Y615	OTTHUMG00000020461	ENST00000333999.3:c.293C>T	9.37:g.111624895C>T	ENSP00000334300:p.Thr98Met		110664716	NM_006687	B2RC83|Q5JSV0	Missense_Mutation	SNP	ENST00000333999.3	37	CCDS6772.1	.	.	.	.	.	.	.	.	.	.	C	2.898	-0.228060	0.06022	2.27E-4	1.16E-4	ENSG00000187003	ENST00000333999	D	0.94376	-3.41	5.77	2.91	0.33838	.	0.316042	0.23479	N	0.047733	D	0.85952	0.5817	N	0.12569	0.235	0.09310	N	1	D	0.54207	0.965	B	0.42995	0.404	T	0.79325	-0.1850	10	0.87932	D	0	.	11.0068	0.47639	0.0:0.7713:0.0:0.2287	.	98	Q9Y615	ACL7A_HUMAN	M	98	ENSP00000334300:T98M	ENSP00000334300:T98M	T	+	2	0	ACTL7A	110664716	0.335000	0.24748	0.022000	0.16811	0.157000	0.22087	1.273000	0.33121	0.380000	0.24823	-0.797000	0.03246	ACG		0.552	ACTL7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053570.1	NM_006687	
SVEP1	79987	broad.mit.edu	37	9	113163284	113163284	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:113163284A>G	ENST00000401783.2	-	40	10008	c.9672T>C	c.(9670-9672)gaT>gaC	p.D3224D	SVEP1_ENST00000297826.5_Silent_p.D1150D|SVEP1_ENST00000374469.1_Silent_p.D3201D	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3224	Sushi 30. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.D3227D(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCCAGGTTCCATCAAGCTAAG	0.363																																					p.D3224D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T9672C	9						.						73.0	71.0	72.0					9																	113163284		1864	4094	5958	112203105	SO:0001819	synonymous_variant	79987	exon40			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.9672T>C	9.37:g.113163284A>G			112203105	NM_153366	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	CCDS48004.1																																																																																				0.363	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
MUSK	4593	broad.mit.edu	37	9	113563169	113563169	+	Silent	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:113563169A>T	ENST00000374448.4	+	15	2645	c.2511A>T	c.(2509-2511)ctA>ctT	p.L837L	MUSK_ENST00000189978.5_Silent_p.L837L|MUSK_ENST00000416899.2_Silent_p.L829L	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	837	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TCATGCGTCTATGTTGGAGCA	0.532																																					p.L751L												.	.	0			c.A2253T	9						.						49.0	48.0	48.0					9																	113563169		2043	4191	6234	112602990	SO:0001819	synonymous_variant	4593	exon13			AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.2511A>T	9.37:g.113563169A>T			112602990	NM_001166280	Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Silent	SNP	ENST00000374448.4	37	CCDS48005.1																																																																																				0.532	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
C9orf84	158401	broad.mit.edu	37	9	114476805	114476805	+	Missense_Mutation	SNP	T	T	C	rs138162559		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:114476805T>C	ENST00000318737.4	-	15	2271	c.2143A>G	c.(2143-2145)Aaa>Gaa	p.K715E	C9orf84_ENST00000394779.3_Missense_Mutation_p.K676E|C9orf84_ENST00000374287.3_Missense_Mutation_p.K715E|C9orf84_ENST00000394777.4_Missense_Mutation_p.K641E	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	715								p.K676E(1)|p.K715E(1)		breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCAGGCTTTTTCCCCCTAATA	0.378																																					p.K715E												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2143G	9						.						157.0	146.0	150.0					9																	114476805		2203	4300	6503	113516626	SO:0001583	missense	158401	exon15			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.2143A>G	9.37:g.114476805T>C	ENSP00000322108:p.Lys715Glu		113516626	NM_173521	A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	T	16.01	3.001119	0.54254	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.05649	3.41;3.45;3.41;3.41	5.87	2.22	0.28083	.	0.321281	0.27052	N	0.021171	T	0.04363	0.0120	L	0.34521	1.04	0.27026	N	0.964351	P;P;P	0.35628	0.513;0.513;0.513	B;B;B	0.29524	0.103;0.103;0.103	T	0.35025	-0.9805	10	0.42905	T	0.14	-7.1282	6.9721	0.24654	0.0:0.1313:0.1262:0.7426	.	641;715;676	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	E	676;641;329;715;715	ENSP00000378259:K676E;ENSP00000378257:K641E;ENSP00000363405:K715E;ENSP00000322108:K715E	ENSP00000322108:K715E	K	-	1	0	C9orf84	113516626	0.995000	0.38212	0.122000	0.21767	0.772000	0.43724	2.669000	0.46825	0.133000	0.18654	0.533000	0.62120	AAA		0.378	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521	
ALAD	210	broad.mit.edu	37	9	116151291	116151291	+	Silent	SNP	G	G	C	rs370242589		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:116151291G>C	ENST00000409155.3	-	11	1093	c.897C>G	c.(895-897)gcC>gcG	p.A299A	ALAD_ENST00000482001.1_5'Flank|ALAD_ENST00000277315.5_Silent_p.A282A	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	299					cellular response to interleukin-4 (GO:0071353)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protein homooligomerization (GO:0051260)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|identical protein binding (GO:0042802)|lead ion binding (GO:0032791)|porphobilinogen synthase activity (GO:0004655)|zinc ion binding (GO:0008270)	p.A328A(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	CCTCCAGTACGGCAGCCTTGA	0.602																																					p.A299A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C897G	9						.						42.0	42.0	42.0					9																	116151291		2203	4300	6503	115191112	SO:0001819	synonymous_variant	210	exon11			M13928	CCDS6794.2	9q32	2010-04-29	2010-04-29		ENSG00000148218	ENSG00000148218	4.2.1.24		395	protein-coding gene	gene with protein product	"""porphobilinogen synthase"""	125270	"""aminolevulinate, delta-, dehydratase"""			6839527, 6378062	Standard	NM_000031		Approved	ALADH, PBGS	uc011lxf.2	P13716	OTTHUMG00000020522	ENST00000409155.3:c.897C>G	9.37:g.116151291G>C			115191112	NM_000031	A8K375|B2R6F2|Q16870|Q16871|Q9BVQ9	Silent	SNP	ENST00000409155.3	37	CCDS6794.2																																																																																				0.602	ALAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053724.3	NM_001003945	
C9orf43	257169	broad.mit.edu	37	9	116188002	116188002	+	Missense_Mutation	SNP	G	G	A	rs573828696		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:116188002G>A	ENST00000288462.4	+	11	1468	c.1022G>A	c.(1021-1023)cGt>cAt	p.R341H	C9orf43_ENST00000374165.1_Missense_Mutation_p.R341H	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	341										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						GTTCATGACCGTCTCTATGGT	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		18342	0.0		0.001	False		,,,				2504	0.0				p.R341H												.	.	0			c.G1022A	9						.						136.0	112.0	120.0					9																	116188002		2203	4300	6503	115227823	SO:0001583	missense	257169	exon11			BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.1022G>A	9.37:g.116188002G>A	ENSP00000288462:p.Arg341His		115227823	NM_152786		Missense_Mutation	SNP	ENST00000288462.4	37	CCDS6796.1	.	.	.	.	.	.	.	.	.	.	G	8.500	0.864112	0.17250	.	.	ENSG00000157653	ENST00000374165;ENST00000288462	T;T	0.42513	0.97;0.97	4.05	0.00656	0.14067	.	1.798960	0.02845	N	0.128459	T	0.23572	0.0570	N	0.03608	-0.345	0.09310	N	1	B	0.27192	0.171	B	0.25884	0.064	T	0.29150	-1.0021	10	0.52906	T	0.07	3.2499	8.8396	0.35133	0.1608:0.3662:0.473:0.0	.	341	Q8TAL5	CI043_HUMAN	H	341	ENSP00000363280:R341H;ENSP00000288462:R341H	ENSP00000288462:R341H	R	+	2	0	C9orf43	115227823	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.331000	0.19733	0.005000	0.14708	-2.716000	0.00133	CGT		0.473	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053739.1	NM_152786	
COL27A1	85301	broad.mit.edu	37	9	117027235	117027235	+	Missense_Mutation	SNP	G	G	A	rs140192759	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:117027235G>A	ENST00000356083.3	+	30	3672	c.3281G>A	c.(3280-3282)cGg>cAg	p.R1094Q		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1094	Collagen-like 8.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.R1094Q(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						AGACCGGGCCGGCCTGGACAG	0.652													G|||	13	0.00259585	0.0098	0.0	5008	,	,		14525	0.0		0.0	False		,,,				2504	0.0				p.R1094Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3281A	9						.	G	GLN/ARG	41,4365	44.6+/-78.6	0,41,2162	55.0	60.0	58.0		3281	-0.6	1.0	9	dbSNP_134	58	1,8599	1.2+/-3.3	0,1,4299	yes	missense	COL27A1	NM_032888.2	43	0,42,6461	AA,AG,GG		0.0116,0.9305,0.3229	benign	1094/1861	117027235	42,12964	2203	4300	6503	116067056	SO:0001583	missense	85301	exon30			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.3281G>A	9.37:g.117027235G>A	ENSP00000348385:p.Arg1094Gln		116067056	NM_032888	Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	CCDS6802.1	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	G	13.01	2.110674	0.37242	0.009305	1.16E-4	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.90788	-2.73	5.21	-0.583	0.11706	.	.	.	.	.	T	0.65069	0.2656	L	0.28274	0.84	0.09310	N	0.999997	B	0.06786	0.001	B	0.04013	0.001	T	0.56366	-0.7991	9	0.11182	T	0.66	.	0.6266	0.00787	0.4874:0.1465:0.1579:0.2082	.	1094	Q8IZC6	CORA1_HUMAN	Q	1094	ENSP00000348385:R1094Q	ENSP00000348385:R1094Q	R	+	2	0	COL27A1	116067056	0.736000	0.28164	0.997000	0.53966	0.971000	0.66376	0.202000	0.17295	-0.004000	0.14419	-0.272000	0.10252	CGG		0.652	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888	
DFNB31	25861	broad.mit.edu	37	9	117186699	117186699	+	Missense_Mutation	SNP	T	T	C	rs45530335		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:117186699T>C	ENST00000362057.3	-	6	1499	c.1331A>G	c.(1330-1332)tAc>tGc	p.Y444C	DFNB31_ENST00000265134.6_Missense_Mutation_p.Y61C|DFNB31_ENST00000374059.3_Missense_Mutation_p.Y93C	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	444					inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)		p.Y444C(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATCCAGGTAGTAGGCCATGGT	0.637													T|||	1	0.000199681	0.0008	0.0	5008	,	,		17039	0.0		0.0	False		,,,				2504	0.0				p.Y444C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1331G	9						.	T	CYS/TYR,CYS/TYR,CYS/TYR	1,4405	2.1+/-5.4	0,1,2202	95.0	73.0	81.0		182,1331,1331	5.5	1.0	9	dbSNP_127	81	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	DFNB31	NM_001083885.2,NM_001173425.1,NM_015404.3	194,194,194	0,3,6500	CC,CT,TT		0.0233,0.0227,0.0231	probably-damaging,probably-damaging,probably-damaging	61/525,444/907,444/908	117186699	3,13003	2203	4300	6503	116226520	SO:0001583	missense	25861	exon6			AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.1331A>G	9.37:g.117186699T>C	ENSP00000354623:p.Tyr444Cys		116226520	NM_015404	A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	ENST00000362057.3	37	CCDS6806.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.517550	0.85495	2.27E-4	2.33E-4	ENSG00000095397	ENST00000265134;ENST00000374059;ENST00000362057	T;T;T	0.12984	3.61;3.58;2.63	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.42245	0.1194	M	0.82630	2.6	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.44421	-0.9329	10	0.87932	D	0	-24.2574	15.888	0.79269	0.0:0.0:0.0:1.0	rs45530335	444;444;93	B9EGE6;Q9P202;Q9P202-4	.;WHRN_HUMAN;.	C	61;93;444	ENSP00000265134:Y61C;ENSP00000363172:Y93C;ENSP00000354623:Y444C	ENSP00000265134:Y61C	Y	-	2	0	DFNB31	116226520	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.363000	0.79516	2.216000	0.71823	0.459000	0.35465	TAC		0.637	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404	
DFNB31	25861	broad.mit.edu	37	9	117186802	117186802	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:117186802C>T	ENST00000362057.3	-	6	1396	c.1228G>A	c.(1228-1230)Ggc>Agc	p.G410S	DFNB31_ENST00000265134.6_Missense_Mutation_p.G27S|DFNB31_ENST00000374059.3_Missense_Mutation_p.G59S	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	410					inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)		p.G410S(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACCTGGGAGCCGGCTGGGCCC	0.607																																					p.G410S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1228A	9						.						26.0	24.0	25.0					9																	117186802		2202	4300	6502	116226623	SO:0001583	missense	25861	exon6			AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.1228G>A	9.37:g.117186802C>T	ENSP00000354623:p.Gly410Ser		116226623	NM_015404	A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	ENST00000362057.3	37	CCDS6806.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671253	0.88348	.	.	ENSG00000095397	ENST00000265134;ENST00000374059;ENST00000362057	T;T;T	0.10099	3.05;3.48;2.91	5.79	4.71	0.59529	.	0.058428	0.64402	D	0.000002	T	0.33177	0.0854	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	0.998;0.998;1.0	P;P;D	0.78314	0.856;0.813;0.991	T	0.02313	-1.1178	10	0.62326	D	0.03	-33.7406	15.7473	0.77955	0.0:0.9241:0.0:0.0759	.	410;410;59	B9EGE6;Q9P202;Q9P202-4	.;WHRN_HUMAN;.	S	27;59;410	ENSP00000265134:G27S;ENSP00000363172:G59S;ENSP00000354623:G410S	ENSP00000265134:G27S	G	-	1	0	DFNB31	116226623	1.000000	0.71417	0.975000	0.42487	0.989000	0.77384	5.421000	0.66447	2.746000	0.94184	0.561000	0.74099	GGC		0.607	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404	
TNC	3371	broad.mit.edu	37	9	117810603	117810603	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:117810603C>A	ENST00000350763.4	-	16	5199	c.4788G>T	c.(4786-4788)gaG>gaT	p.E1596D	TNC_ENST00000481475.1_5'UTR|TNC_ENST00000341037.4_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000423613.2_Intron|TNC_ENST00000340094.3_Missense_Mutation_p.E1232D|TNC_ENST00000537320.1_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000542877.1_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1596	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.E1596D(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AGACCATAACCTCATAGCCAA	0.502																																					p.E1596D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4788T	9						.						130.0	124.0	126.0					9																	117810603		2203	4300	6503	116850424	SO:0001583	missense	3371	exon16				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.4788G>T	9.37:g.117810603C>A	ENSP00000265131:p.Glu1596Asp		116850424	NM_002160	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.364309	0.41902	.	.	ENSG00000041982	ENST00000340094;ENST00000350763	T;T	0.59364	0.27;0.27	5.7	5.7	0.88788	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	T	0.43897	0.1268	N	0.19112	0.55	0.80722	D	1	B	0.19073	0.033	B	0.20577	0.03	T	0.31779	-0.9931	10	0.13108	T	0.6	.	18.007	0.89212	0.0:1.0:0.0:0.0	.	1596	P24821	TENA_HUMAN	D	1232;1596	ENSP00000344400:E1232D;ENSP00000265131:E1596D	ENSP00000344400:E1232D	E	-	3	2	TNC	116850424	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.213000	0.58520	2.688000	0.91661	0.655000	0.94253	GAG		0.502	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160	
TRIM32	22954	broad.mit.edu	37	9	119460416	119460416	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:119460416G>A	ENST00000450136.1	+	2	556	c.395G>A	c.(394-396)gGc>gAc	p.G132D	ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000313400.4_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.G132D	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	132					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of proteolysis (GO:0045862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of type I interferon production (GO:0032479)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|striated muscle myosin thick filament (GO:0005863)	ligase activity (GO:0016874)|myosin binding (GO:0017022)|protein self-association (GO:0043621)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|translation initiation factor binding (GO:0031369)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G132D(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						CAGCCTCCTGGCCACTGTACA	0.612																																					p.G132D	Esophageal Squamous(92;212 1916 19711 26951)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G395A	9						.						50.0	56.0	54.0					9																	119460416		2203	4298	6501	118500237	SO:0001583	missense	22954	exon2			U18543	CCDS6817.1	9q33.1	2014-09-17	2011-01-25		ENSG00000119401	ENSG00000119401		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16380	protein-coding gene	gene with protein product		602290	"""limb girdle muscular dystrophy 2H (autosomal recessive)"", ""tripartite motif-containing 32"""	LGMD2H		11331580, 7778269, 16606853	Standard	NM_001099679		Approved	HT2A, TATIP, BBS11	uc004bjx.2	Q13049	OTTHUMG00000021026	ENST00000450136.1:c.395G>A	9.37:g.119460416G>A	ENSP00000408292:p.Gly132Asp		118500237	NM_001099679	Q9NQP8	Missense_Mutation	SNP	ENST00000450136.1	37	CCDS6817.1	.	.	.	.	.	.	.	.	.	.	G	7.877	0.729435	0.15507	.	.	ENSG00000119401	ENST00000450136;ENST00000373983;ENST00000411410	T;T;T	0.58210	0.35;0.35;0.35	5.36	1.97	0.26223	Zinc finger, B-box (2);	0.299670	0.31484	N	0.007564	T	0.31796	0.0808	N	0.24115	0.695	0.09310	N	1	B	0.27823	0.19	B	0.25291	0.059	T	0.12708	-1.0537	9	.	.	.	-5.1819	7.2262	0.26016	0.2261:0.1311:0.6428:0.0	.	132	Q13049	TRI32_HUMAN	D	132	ENSP00000408292:G132D;ENSP00000363095:G132D;ENSP00000412603:G132D	.	G	+	2	0	TRIM32	118500237	1.000000	0.71417	0.471000	0.27229	0.996000	0.88848	3.869000	0.56062	0.598000	0.29829	0.655000	0.94253	GGC		0.612	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055466.2	NM_012210	
MEGF9	1955	broad.mit.edu	37	9	123385010	123385010	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:123385010A>G	ENST00000373930.3	-	3	938	c.827T>C	c.(826-828)gTg>gCg	p.V276A	MEGF9_ENST00000426959.1_Missense_Mutation_p.V313A	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	276	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.					integral component of membrane (GO:0016021)		p.V313A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						AATGACACCCACTTTGCACTG	0.403																																					p.V276A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T827C	9						.						109.0	104.0	106.0					9																	123385010		1915	4137	6052	122424831	SO:0001583	missense	1955	exon3			AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780			3234	protein-coding gene	gene with protein product		604268	"""EGF-like-domain, multiple 5"""	EGFL5		9693030	Standard	NM_001080497		Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.827T>C	9.37:g.123385010A>G	ENSP00000363040:p.Val276Ala		122424831	NM_001080497	B7Z315|O75098	Missense_Mutation	SNP	ENST00000373930.3	37	CCDS48010.2	.	.	.	.	.	.	.	.	.	.	A	10.95	1.496067	0.26774	.	.	ENSG00000106780	ENST00000373930;ENST00000426959	T;T	0.60299	0.2;0.2	5.87	3.39	0.38822	.	0.781678	0.11861	N	0.522354	T	0.33527	0.0866	N	0.13168	0.305	0.31669	N	0.64458	B	0.16166	0.016	B	0.15052	0.012	T	0.35549	-0.9784	10	0.10111	T	0.7	-0.1324	5.5184	0.16919	0.7292:0.0:0.1421:0.1287	.	313	C9J1K8	.	A	276;313	ENSP00000363040:V276A;ENSP00000392666:V313A	ENSP00000363040:V276A	V	-	2	0	MEGF9	122424831	0.346000	0.24844	1.000000	0.80357	0.991000	0.79684	0.122000	0.15687	1.147000	0.42369	0.533000	0.62120	GTG		0.403	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055513.1	NM_001080497	
MORN5	254956	broad.mit.edu	37	9	124936830	124936830	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:124936830C>T	ENST00000373764.3	+	4	425	c.363C>T	c.(361-363)taC>taT	p.Y121Y	MORN5_ENST00000536616.1_Silent_p.Y121Y|MORN5_ENST00000486801.1_3'UTR	NM_198469.2	NP_940871.2	Q5VZ52	MORN5_HUMAN	MORN repeat containing 5	121								p.Y121Y(2)		endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						AGGGCTATTACGATTGTGGAG	0.463																																					p.Y121Y												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.C363T	9						.						103.0	100.0	101.0					9																	124936830		2203	4300	6503	123976651	SO:0001819	synonymous_variant	254956	exon4			AK128877	CCDS6836.1, CCDS75894.1	9q34.11	2008-06-23	2008-06-23	2008-06-23	ENSG00000185681	ENSG00000185681			17841	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 113"", ""chromosome 9 open reading frame 18"""	C9orf113, C9orf18			Standard	XM_005251878		Approved	FLJ46909	uc004blw.2	Q5VZ52	OTTHUMG00000020599	ENST00000373764.3:c.363C>T	9.37:g.124936830C>T			123976651	NM_198469	B7Z7I5|Q6ZQN1	Silent	SNP	ENST00000373764.3	37	CCDS6836.1																																																																																				0.463	MORN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053910.2	NM_198469	
ZBTB26	57684	broad.mit.edu	37	9	125681858	125681858	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:125681858C>T	ENST00000373656.3	-	2	429	c.356G>A	c.(355-357)tGc>tAc	p.C119Y	ZBTB26_ENST00000373654.1_Missense_Mutation_p.C119Y	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	119					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.C119Y(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						GGCCTGTGTGCACCGTTCTAC	0.443																																					p.C119Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G356A	9						.						139.0	121.0	127.0					9																	125681858		2203	4300	6503	124721679	SO:0001583	missense	57684	exon2			AB046792	CCDS6847.1	9q34.11	2013-01-08	2004-04-15	2004-04-16	ENSG00000171448	ENSG00000171448		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23383	protein-coding gene	gene with protein product			"""zinc finger protein 481"""	ZNF481			Standard	NM_020924		Approved		uc004bnk.3	Q9HCK0	OTTHUMG00000020627	ENST00000373656.3:c.356G>A	9.37:g.125681858C>T	ENSP00000362760:p.Cys119Tyr		124721679	NM_020924	B3KQ53|Q8WTR1	Missense_Mutation	SNP	ENST00000373656.3	37	CCDS6847.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273028	0.59649	.	.	ENSG00000171448	ENST00000373656;ENST00000373654	T;T	0.33216	1.42;1.42	5.54	5.54	0.83059	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.68183	0.2973	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77148	-0.2694	10	0.87932	D	0	.	19.5023	0.95100	0.0:1.0:0.0:0.0	.	119	Q9HCK0	ZBT26_HUMAN	Y	119	ENSP00000362760:C119Y;ENSP00000362758:C119Y	ENSP00000362758:C119Y	C	-	2	0	ZBTB26	124721679	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.605000	0.88082	0.591000	0.81541	TGC		0.443	ZBTB26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053960.1	NM_020924	
OLFML2A	169611	broad.mit.edu	37	9	127570221	127570221	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:127570221C>T	ENST00000373580.3	+	7	1330	c.1330C>T	c.(1330-1332)Cgc>Tgc	p.R444C	OLFML2A_ENST00000288815.5_Missense_Mutation_p.R230C	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	444	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)	p.R444C(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						GGTGGAGTTCCGCAACCTGGA	0.592																																					p.R444C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1330T	9						.						79.0	79.0	79.0					9																	127570221		2203	4300	6503	126610042	SO:0001583	missense	169611	exon7			AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.1330C>T	9.37:g.127570221C>T	ENSP00000362682:p.Arg444Cys		126610042	NM_182487	Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Missense_Mutation	SNP	ENST00000373580.3	37	CCDS6857.2	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759856	0.89932	.	.	ENSG00000185585	ENST00000342100;ENST00000373580;ENST00000288815	T;D	0.89875	1.57;-2.58	5.68	5.68	0.88126	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.94288	0.8165	M	0.82056	2.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.983;0.999	D	0.94611	0.7804	10	0.87932	D	0	.	14.2856	0.66245	0.158:0.842:0.0:0.0	.	230;444	Q68BL7-3;Q68BL7	.;OLM2A_HUMAN	C	136;444;230	ENSP00000362682:R444C;ENSP00000288815:R230C	ENSP00000288815:R230C	R	+	1	0	OLFML2A	126610042	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.014000	0.57145	2.662000	0.90505	0.655000	0.94253	CGC		0.592	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487	
GARNL3	84253	broad.mit.edu	37	9	130098439	130098439	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:130098439C>T	ENST00000373387.4	+	11	1258	c.906C>T	c.(904-906)atC>atT	p.I302I	GARNL3_ENST00000435213.2_Silent_p.I280I|GARNL3_ENST00000314904.5_Silent_p.I302I	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	302	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)	p.I284I(1)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						GAAACGATATCGTCACCATTG	0.433																																					p.I302I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C906T	9						.						168.0	131.0	143.0					9																	130098439		2203	4300	6503	129138260	SO:0001819	synonymous_variant	84253	exon11			BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.906C>T	9.37:g.130098439C>T			129138260	NM_032293	B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Silent	SNP	ENST00000373387.4	37	CCDS6869.2																																																																																				0.433	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293	
GARNL3	84253	broad.mit.edu	37	9	130117614	130117614	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:130117614G>T	ENST00000373387.4	+	20	2150	c.1798G>T	c.(1798-1800)Gag>Tag	p.E600*	GARNL3_ENST00000435213.2_Nonsense_Mutation_p.E578*|GARNL3_ENST00000314904.5_Nonsense_Mutation_p.E600*	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	600	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)	p.E582*(1)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						CCACAGCAGAGAGCTGAGGAT	0.498																																					p.E600X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1798T	9						.						194.0	191.0	192.0					9																	130117614		2203	4300	6503	129157435	SO:0001587	stop_gained	84253	exon20			BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.1798G>T	9.37:g.130117614G>T	ENSP00000362485:p.Glu600*		129157435	NM_032293	B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Nonsense_Mutation	SNP	ENST00000373387.4	37	CCDS6869.2	.	.	.	.	.	.	.	.	.	.	G	43	10.328706	0.99384	.	.	ENSG00000136895	ENST00000435213;ENST00000314904;ENST00000373387	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9175	0.88955	0.0:0.0:1.0:0.0	.	.	.	.	X	578;600;600	.	.	E	+	1	0	GARNL3	129157435	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.174000	0.94824	2.563000	0.86464	0.563000	0.77884	GAG		0.498	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293	
STXBP1	6812	broad.mit.edu	37	9	130430453	130430453	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:130430453G>A	ENST00000373299.1	+	10	1004	c.889G>A	c.(889-891)Gca>Aca	p.A297T	STXBP1_ENST00000373302.3_Missense_Mutation_p.A297T	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	297					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)	p.A297T(4)		breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						CAAGCACATCGCAGAGGTGTC	0.632																																					p.A297T												.	.	4	Substitution - Missense(4)	large_intestine(2)|endometrium(2)	c.G889A	9						.						79.0	72.0	75.0					9																	130430453		2203	4300	6503	129470274	SO:0001583	missense	6812	exon10			AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"""syntaxin-binding protein 1"""	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.889G>A	9.37:g.130430453G>A	ENSP00000362396:p.Ala297Thr		129470274	NM_003165	B1AM97|Q28208|Q62759|Q64320|Q96TG8	Missense_Mutation	SNP	ENST00000373299.1	37	CCDS35146.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824297	0.90955	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000541198;ENST00000373299	T;T	0.78481	-1.18;-1.18	5.65	4.75	0.60458	.	0.094170	0.64402	D	0.000001	D	0.91119	0.7204	H	0.96547	3.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.986	D	0.93250	0.6634	10	0.87932	D	0	-10.7917	12.6097	0.56544	0.0806:0.0:0.9194:0.0	.	297;297	P61764;P61764-2	STXB1_HUMAN;.	T	251;297;129;297	ENSP00000362399:A297T;ENSP00000362396:A297T	ENSP00000362396:A297T	A	+	1	0	STXBP1	129470274	1.000000	0.71417	0.996000	0.52242	0.824000	0.46624	9.753000	0.98904	1.534000	0.49203	-0.339000	0.08088	GCA		0.632	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1	NM_003165	
CIZ1	25792	broad.mit.edu	37	9	130940752	130940752	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:130940752G>A	ENST00000393608.1	-	9	1718	c.1516C>T	c.(1516-1518)Cca>Tca	p.P506S	CIZ1_ENST00000357558.5_Missense_Mutation_p.P478S|CIZ1_ENST00000538431.1_Missense_Mutation_p.P506S|CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000325721.8_Missense_Mutation_p.P477S|CIZ1_ENST00000372938.5_Missense_Mutation_p.P506S|CIZ1_ENST00000541172.1_Missense_Mutation_p.P405S|CIZ1_ENST00000372948.3_Missense_Mutation_p.P450S|CIZ1_ENST00000372954.1_Missense_Mutation_p.P426S|CIZ1_ENST00000277465.4_Missense_Mutation_p.P478S	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	506					maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.P506S(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						ACAGGCTCTGGCAAGGTCTTT	0.552																																					p.P450S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1348T	9						.						173.0	160.0	164.0					9																	130940752		2203	4300	6503	129980573	SO:0001583	missense	25792	exon10			AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.1516C>T	9.37:g.130940752G>A	ENSP00000377232:p.Pro506Ser		129980573	NM_001131015	A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Missense_Mutation	SNP	ENST00000393608.1	37	CCDS6894.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.280176	0.23392	.	.	ENSG00000148337	ENST00000372954;ENST00000393608;ENST00000538431;ENST00000357558;ENST00000325721;ENST00000537314;ENST00000541172;ENST00000277465;ENST00000372948;ENST00000372938;ENST00000415526	T;T;T;T;T;T;T;T;T;T	0.38401	1.14;1.32;1.26;1.47;1.32;1.74;1.47;1.15;1.32;1.91	4.05	1.08	0.20341	.	0.491701	0.17406	N	0.175361	T	0.30696	0.0773	L	0.46157	1.445	0.09310	N	1	P;P;P;P;B;B;P	0.47762	0.749;0.54;0.669;0.9;0.397;0.29;0.54	B;B;P;P;B;B;B	0.47134	0.242;0.309;0.506;0.539;0.146;0.154;0.309	T	0.14035	-1.0487	10	0.51188	T	0.08	-1.4383	2.3817	0.04356	0.0971:0.1671:0.393:0.3428	.	506;445;450;426;506;477;478	B7Z3U7;B4E0A3;Q9ULV3-4;Q9ULV3-3;Q9ULV3;Q9ULV3-2;Q5SYW2	.;.;.;.;CIZ1_HUMAN;.;.	S	426;506;506;478;477;445;405;478;450;506;428	ENSP00000362045:P426S;ENSP00000377232:P506S;ENSP00000439244:P506S;ENSP00000350169:P478S;ENSP00000320374:P477S;ENSP00000445057:P405S;ENSP00000277465:P478S;ENSP00000362039:P450S;ENSP00000362029:P506S;ENSP00000398011:P428S	ENSP00000277465:P478S	P	-	1	0	CIZ1	129980573	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.128000	0.15810	0.231000	0.21079	0.561000	0.74099	CCA		0.552	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054399.1	NM_012127	
DNM1	1759	broad.mit.edu	37	9	130980945	130980945	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:130980945G>A	ENST00000372923.3	+	3	412	c.320G>A	c.(319-321)aGg>aAg	p.R107K	DNM1_ENST00000341179.7_Missense_Mutation_p.R107K|DNM1_ENST00000393594.3_Missense_Mutation_p.R107K|DNM1_ENST00000475805.1_Missense_Mutation_p.R107K|DNM1_ENST00000486160.1_Missense_Mutation_p.R107K	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	107	Dynamin-type G.				endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.R107K(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						GAGACCGACAGGGTCACCGGC	0.607																																					p.R107K	GBM(113;146 1575 2722 28670 29921)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G320A	9						.						44.0	38.0	40.0					9																	130980945		2203	4300	6503	130020766	SO:0001583	missense	1759	exon3			L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"""Pleckstrin homology (PH) domain containing"""	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.320G>A	9.37:g.130980945G>A	ENSP00000362014:p.Arg107Lys		130020766	NM_001005336	A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP	ENST00000372923.3	37	CCDS6895.1	.	.	.	.	.	.	.	.	.	.	G	37	6.407325	0.97542	.	.	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393589;ENST00000393594;ENST00000486160	D;D;D;D;D	0.96685	-4.09;-4.09;-4.09;-4.09;-4.09	5.38	5.38	0.77491	Dynamin, GTPase domain (2);	0.000000	0.85682	D	0.000000	D	0.98254	0.9422	M	0.82517	2.595	0.80722	D	1	P;P;P	0.49635	0.924;0.907;0.926	D;D;D	0.72075	0.976;0.96;0.973	D	0.99129	1.0852	10	0.87932	D	0	-1.1146	19.1189	0.93353	0.0:0.0:1.0:0.0	.	107;107;107	Q05193;Q05193-3;Q05193-2	DYN1_HUMAN;.;.	K	107;107;107;102;107;107	ENSP00000419225:R107K;ENSP00000345680:R107K;ENSP00000362014:R107K;ENSP00000377219:R107K;ENSP00000420045:R107K	ENSP00000345680:R107K	R	+	2	0	DNM1	130020766	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.869000	0.99810	2.517000	0.84864	0.462000	0.41574	AGG		0.607	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	NM_004408	
DNM1	1759	broad.mit.edu	37	9	131004549	131004549	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:131004549C>T	ENST00000372923.3	+	15	1688	c.1596C>T	c.(1594-1596)ggC>ggT	p.G532G	MIR3154_ENST00000577829.1_RNA|MIR199B_ENST00000384849.1_RNA|DNM1_ENST00000341179.7_Silent_p.G532G|DNM1_ENST00000393594.3_Silent_p.G532G|DNM1_ENST00000475805.1_Silent_p.G532G|DNM1_ENST00000493925.1_3'UTR|DNM1_ENST00000486160.1_Silent_p.G532G	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	532	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.G532G(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						ATAATATTGGCATCATGAAAG	0.562																																					p.A532V	GBM(113;146 1575 2722 28670 29921)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1595T	9						.						92.0	78.0	83.0					9																	131004549		2203	4300	6503	130044370	SO:0001819	synonymous_variant	1759	exon14			L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"""Pleckstrin homology (PH) domain containing"""	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.1596C>T	9.37:g.131004549C>T			130044370	NM_001005336	A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Silent	SNP	ENST00000372923.3	37	CCDS6895.1																																																																																				0.562	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	NM_004408	
C9orf114	51490	broad.mit.edu	37	9	131589401	131589401	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:131589401C>T	ENST00000361256.5	-	4	318	c.278G>A	c.(277-279)cGc>cAc	p.R93H		NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN	chromosome 9 open reading frame 114	93							poly(A) RNA binding (GO:0044822)	p.R93H(1)		kidney(2)|large_intestine(4)|ovary(1)	7						CAAGTAGGTGCGAAGCTCCGG	0.617																																					p.R93H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G278A	9						.						106.0	93.0	98.0					9																	131589401		2203	4300	6503	130629222	SO:0001583	missense	51490	exon4				CCDS6913.1	9q34.11	2014-05-29			ENSG00000198917	ENSG00000198917			26933	protein-coding gene	gene with protein product	"""centromere protein 32"""					20813266	Standard	NM_016390		Approved	HSPC109, CENP-32	uc004bwd.3	Q5T280	OTTHUMG00000020762	ENST00000361256.5:c.278G>A	9.37:g.131589401C>T	ENSP00000354812:p.Arg93His		130629222	NM_016390	Q0D2P6|Q6P469|Q6PGP9|Q6PIJ1|Q6PJV9	Missense_Mutation	SNP	ENST00000361256.5	37	CCDS6913.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.574033|5.574033	0.96553|0.96553	.|.	.|.	ENSG00000198917|ENSG00000198917	ENST00000372618|ENST00000361256	.|T	.|0.32753	.|1.44	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	1.079260|.	0.07022|.	N|.	0.827009|.	T|T	0.50854|0.50854	0.1640|0.1640	M|M	0.92604|0.92604	3.325|3.325	0.80722|0.80722	D|D	1|1	.|P	.|0.50443	.|0.935	.|B	.|0.44163	.|0.443	T|T	0.67734|0.67734	-0.5594|-0.5594	7|9	0.66056|0.87932	D|D	0.02|0	0.038|0.038	18.1483|18.1483	0.89665|0.89665	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|93	.|Q5T280	.|CI114_HUMAN	T|H	93|93	.|ENSP00000354812:R93H	ENSP00000361701:A93T|ENSP00000354812:R93H	A|R	-|-	1|2	0|0	C9orf114|C9orf114	130629222|130629222	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.982000|0.982000	0.71751|0.71751	7.701000|7.701000	0.84566|0.84566	2.532000|2.532000	0.85374|0.85374	0.555000|0.555000	0.69702|0.69702	GCA|CGC		0.617	C9orf114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054500.1	NM_016390	
ABL1	25	broad.mit.edu	37	9	133759406	133759406	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:133759406C>T	ENST00000318560.5	+	11	2110	c.1729C>T	c.(1729-1731)Cga>Tga	p.R577*		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	577					actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)	p.R577*(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	TCGAAAAGAGCGAGGTCCCCC	0.537			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																p.R577X			Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1729T	9						.						87.0	94.0	92.0					9																	133759406		2203	4300	6503	132749227	SO:0001587	stop_gained	25	exon11			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1729C>T	9.37:g.133759406C>T	ENSP00000323315:p.Arg577*		132749227	NM_005157	A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Nonsense_Mutation	SNP	ENST00000318560.5	37	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	C	41	8.705458	0.98922	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	.	.	.	5.29	3.23	0.37069	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.1453	0.48426	0.5757:0.4243:0.0:0.0	.	.	.	.	X	392;596;577	.	ENSP00000323315:R577X	R	+	1	2	ABL1	132749227	1.000000	0.71417	0.956000	0.39512	0.975000	0.68041	2.456000	0.44997	1.191000	0.43056	0.561000	0.74099	CGA		0.537	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313	
LAMC3	10319	broad.mit.edu	37	9	133920973	133920973	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:133920973G>A	ENST00000361069.4	+	8	1578	c.1445G>A	c.(1444-1446)tGc>tAc	p.C482Y	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	482	Laminin EGF-like 5; first part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)	p.C482Y(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		AGCTGTTTCTGCTATGGCCAC	0.597																																					p.C482Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1445A	9						.						76.0	68.0	71.0					9																	133920973		2203	4300	6503	132910794	SO:0001583	missense	10319	exon8			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.1445G>A	9.37:g.133920973G>A	ENSP00000354360:p.Cys482Tyr		132910794	NM_006059	B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703690	0.88924	.	.	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.68025	-0.3	4.6	4.6	0.57074	EGF-like, laminin (1);	0.000000	0.85682	D	0.000000	D	0.87030	0.6076	H	0.95982	3.75	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.91054	0.4880	10	0.87932	D	0	.	14.9523	0.71083	0.0:0.0:1.0:0.0	.	482	Q9Y6N6	LAMC3_HUMAN	Y	482	ENSP00000354360:C482Y	ENSP00000347156:C482Y	C	+	2	0	LAMC3	132910794	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	8.794000	0.91867	2.389000	0.81357	0.555000	0.69702	TGC		0.597	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059	
NUP214	8021	broad.mit.edu	37	9	134039264	134039264	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:134039264A>G	ENST00000359428.5	+	20	2875	c.2731A>G	c.(2731-2733)Agt>Ggt	p.S911G	RP11-544A12.4_ENST00000592466.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.S901G|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000588325.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000417798.2_RNA|RP11-544A12.4_ENST00000587264.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.S912G|RP11-544A12.4_ENST00000589128.1_RNA|RP11-544A12.4_ENST00000589095.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000586662.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	911	11 X 5 AA approximate repeats.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)	p.S911G(1)		NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CAGTTTTGACAGTGACCTGGA	0.438			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																p.S911G	Pancreas(4;24 48 25510 30394 32571)		Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2731G	9						.						205.0	203.0	203.0					9																	134039264		2203	4300	6503	133029085	SO:0001583	missense	8021	exon20			X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.2731A>G	9.37:g.134039264A>G	ENSP00000352400:p.Ser911Gly		133029085	NM_005085	A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	A	18.01	3.527471	0.64860	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605	T;T;T	0.34275	1.37;1.38;1.38	5.9	5.9	0.94986	.	0.000000	0.47455	D	0.000227	T	0.24624	0.0597	N	0.08118	0	0.48975	D	0.999738	P;P;B;P	0.35155	0.462;0.487;0.355;0.487	B;B;B;B	0.42282	0.382;0.122;0.223;0.203	T	0.16364	-1.0405	10	0.40728	T	0.16	-16.4099	9.9185	0.41450	0.9248:0.0:0.0752:0.0	.	900;505;901;911	P35658-2;Q5JUP9;P35658-4;P35658	.;.;.;NU214_HUMAN	G	911;901;912;900;505;340	ENSP00000352400:S911G;ENSP00000396576:S901G;ENSP00000405014:S912G	ENSP00000352400:S911G	S	+	1	0	NUP214	133029085	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.514000	0.60482	2.248000	0.74166	0.460000	0.39030	AGT		0.438	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085	
POMT1	10585	broad.mit.edu	37	9	134385684	134385684	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:134385684C>A	ENST00000372228.3	+	9	982	c.803C>A	c.(802-804)gCt>gAt	p.A268D	POMT1_ENST00000354713.4_Missense_Mutation_p.A216D|POMT1_ENST00000419118.2_Missense_Mutation_p.A94D|POMT1_ENST00000404875.2_Missense_Mutation_p.A129D|POMT1_ENST00000423007.1_Missense_Mutation_p.A246D|POMT1_ENST00000402686.3_Missense_Mutation_p.A246D|POMT1_ENST00000341012.7_Missense_Mutation_p.A192D|POMT1_ENST00000541219.1_Missense_Mutation_p.A24D	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	268					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)	p.A268D(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		CGAGCAGTGGCTTTGCTGGTC	0.527																																					p.A268D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C803A	9						.						125.0	98.0	107.0					9																	134385684		2203	4300	6503	133375505	SO:0001583	missense	10585	exon9			AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	9202	protein-coding gene	gene with protein product	"""dolichyl-phosphate-mannose-protein mannosyltransferase"""	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.803C>A	9.37:g.134385684C>A	ENSP00000361302:p.Ala268Asp		133375505	NM_007171	B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Missense_Mutation	SNP	ENST00000372228.3	37	CCDS6943.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.701037	0.68501	.	.	ENSG00000130714	ENST00000423007;ENST00000404875;ENST00000341012;ENST00000441334;ENST00000372228;ENST00000402686;ENST00000419118;ENST00000541219;ENST00000354713;ENST00000448212;ENST00000430619	D;D;D;D;D;D;D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07	5.39	5.39	0.77823	Glycosyl transferase, family 39 (1);	0.155785	0.56097	D	0.000034	D	0.92961	0.7760	M	0.88450	2.955	0.47905	D	0.999541	P;D;D;P	0.58268	0.843;0.982;0.975;0.811	P;P;P;P	0.62740	0.77;0.906;0.843;0.476	D	0.93390	0.6751	10	0.51188	T	0.08	-23.541	17.7377	0.88399	0.0:1.0:0.0:0.0	.	216;24;268;246	B4DTW4;B4DI80;Q9Y6A1;Q9Y6A1-2	.;.;POMT1_HUMAN;.	D	246;129;192;151;268;246;94;24;216;214;129	ENSP00000404119:A246D;ENSP00000384531:A129D;ENSP00000343034:A192D;ENSP00000395060:A151D;ENSP00000361302:A268D;ENSP00000385797:A246D;ENSP00000403032:A94D;ENSP00000440895:A24D;ENSP00000346748:A216D;ENSP00000403736:A214D;ENSP00000402083:A129D	ENSP00000343034:A192D	A	+	2	0	POMT1	133375505	0.982000	0.34865	0.139000	0.22197	0.374000	0.29953	2.588000	0.46137	2.526000	0.85167	0.561000	0.74099	GCT		0.527	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1	NM_007171	
BARHL1	56751	broad.mit.edu	37	9	135464673	135464673	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:135464673T>C	ENST00000263610.2	+	3	1361	c.748T>C	c.(748-750)Tac>Cac	p.Y250H	BARHL1_ENST00000542090.1_Missense_Mutation_p.Y250H	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	250					midbrain development (GO:0030901)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.Y250H(1)		cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		GGCAGGCAATTACTCAGCGCT	0.632																																					p.Y250H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T748C	9						.						64.0	71.0	69.0					9																	135464673		2202	4298	6500	134454494	SO:0001583	missense	56751	exon3			AJ237816	CCDS6950.1	9q34.13	2011-06-20	2007-07-09		ENSG00000125492	ENSG00000125492		"""Homeoboxes / ANTP class : NKL subclass"""	953	protein-coding gene	gene with protein product		605211	"""BarH (Drosophila)-like 1"""				Standard	NM_020064		Approved		uc004cbp.1	Q9BZE3	OTTHUMG00000020839	ENST00000263610.2:c.748T>C	9.37:g.135464673T>C	ENSP00000263610:p.Tyr250His		134454494	NM_020064	Q5T6V2|Q9NY88	Missense_Mutation	SNP	ENST00000263610.2	37	CCDS6950.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.187782	0.78789	.	.	ENSG00000125492	ENST00000263610;ENST00000542090	D;D	0.91996	-2.95;-2.95	4.93	3.77	0.43336	.	0.150785	0.45867	D	0.000325	D	0.93996	0.8077	L	0.58101	1.795	0.53688	D	0.99997	D	0.76494	0.999	D	0.70935	0.971	D	0.93445	0.6797	10	0.87932	D	0	.	10.1327	0.42689	0.1497:0.0:0.0:0.8503	.	250	Q9BZE3	BARH1_HUMAN	H	250	ENSP00000263610:Y250H;ENSP00000444704:Y250H	ENSP00000263610:Y250H	Y	+	1	0	BARHL1	134454494	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.414000	0.80117	0.881000	0.35993	0.533000	0.62120	TAC		0.632	BARHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054789.2		
GTF3C5	9328	broad.mit.edu	37	9	135917597	135917597	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:135917597A>G	ENST00000372097.5	+	2	600	c.277A>G	c.(277-279)Agg>Ggg	p.R93G	GTF3C5_ENST00000372095.5_Intron|GTF3C5_ENST00000372099.6_Missense_Mutation_p.R84G|GTF3C5_ENST00000372108.5_Missense_Mutation_p.R93G|GTF3C5_ENST00000485692.1_Intron|GTF3C5_ENST00000342018.8_Missense_Mutation_p.R93G	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	93					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.R93G(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		GAAGAGAACGAGGCGGCAGAA	0.572																																					p.R93G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A277G	9						.						81.0	83.0	82.0					9																	135917597		2203	4300	6503	134907418	SO:0001583	missense	9328	exon2			AF133124	CCDS6958.1, CCDS48050.1, CCDS75927.1	9q34.13	2010-03-23	2002-08-29		ENSG00000148308	ENSG00000148308		"""General transcription factors"""	4668	protein-coding gene	gene with protein product	"""transcription factor IIIC, 63 kD"""	604890	"""general transcription factor IIIC, polypeptide 5 (63kD)"""			10373544	Standard	NM_012087		Approved	TFiiiC2-63, TFIIIC63, TFIIICepsilon	uc004ccj.4	Q9Y5Q8	OTTHUMG00000020856	ENST00000372097.5:c.277A>G	9.37:g.135917597A>G	ENSP00000361169:p.Arg93Gly		134907418	NM_001122823	A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	Missense_Mutation	SNP	ENST00000372097.5	37	CCDS6958.1	.	.	.	.	.	.	.	.	.	.	A	17.33	3.363319	0.61513	.	.	ENSG00000148308	ENST00000372097;ENST00000440319;ENST00000372099;ENST00000372108;ENST00000342018	T;T;T;T	0.52295	0.72;0.67;0.72;0.72	5.34	2.92	0.33932	.	0.310648	0.33959	N	0.004400	T	0.48409	0.1498	M	0.80982	2.52	0.21256	N	0.999744	B;B	0.16802	0.019;0.01	B;B	0.22152	0.023;0.038	T	0.41431	-0.9509	10	0.22706	T	0.39	-4.6841	11.8232	0.52252	0.5222:0.4778:0.0:0.0	.	93;93	Q9Y5Q8-3;Q9Y5Q8	.;TF3C5_HUMAN	G	93;46;84;93;93	ENSP00000361169:R93G;ENSP00000361171:R84G;ENSP00000361180:R93G;ENSP00000339530:R93G	ENSP00000339530:R93G	R	+	1	2	GTF3C5	134907418	0.802000	0.28943	0.001000	0.08648	0.758000	0.43043	1.255000	0.32909	0.311000	0.23014	0.533000	0.62120	AGG		0.572	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054826.1	NM_001122823	
REXO4	57109	broad.mit.edu	37	9	136278015	136278015	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:136278015T>C	ENST00000371942.3	-	3	798	c.599A>G	c.(598-600)gAc>gGc	p.D200G	REXO4_ENST00000371935.2_Intron|REXO4_ENST00000478037.1_5'UTR	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN	REX4, RNA exonuclease 4 homolog (S. cerevisiae)	200					regulation of transcription, DNA-templated (GO:0006355)	nucleolus (GO:0005730)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D200G(1)		kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		ATCCGCTGGGTCCACGTCGTC	0.572																																					p.D200G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A599G	9						.						69.0	56.0	61.0					9																	136278015		2203	4300	6503	135267836	SO:0001583	missense	57109	exon3			AF273304	CCDS6969.1, CCDS65179.1	9q34	2008-02-05	2005-08-22	2005-08-22	ENSG00000148300	ENSG00000148300			12820	protein-coding gene	gene with protein product		602930	"""Xenopus prevents mitotic catatrophe 2 homolog"", ""XPMC2 prevents mitotic catastrophe 2 homolog (Xenopus laevis)"""	XPMC2H		9325058	Standard	NM_020385		Approved		uc004cdm.3	Q9GZR2	OTTHUMG00000020870	ENST00000371942.3:c.599A>G	9.37:g.136278015T>C	ENSP00000361010:p.Asp200Gly		135267836	NM_020385	B2RAT2|Q5T8S4|Q5T8S5|Q5T8S6|Q9GZW3	Missense_Mutation	SNP	ENST00000371942.3	37	CCDS6969.1	.	.	.	.	.	.	.	.	.	.	T	15.67	2.903446	0.52333	.	.	ENSG00000148300	ENST00000453165;ENST00000371942;ENST00000445916	T;T;T	0.31247	1.63;1.61;1.5	5.13	3.98	0.46160	.	0.120915	0.64402	D	0.000013	T	0.34250	0.0891	M	0.81341	2.54	0.80722	D	1	P	0.43826	0.818	B	0.38020	0.263	T	0.27297	-1.0078	10	0.66056	D	0.02	-18.0598	10.2643	0.43445	0.0:0.079:0.0:0.921	.	200	Q9GZR2	REXO4_HUMAN	G	185;200;107	ENSP00000403272:D185G;ENSP00000361010:D200G;ENSP00000391534:D107G	ENSP00000361010:D200G	D	-	2	0	REXO4	135267836	1.000000	0.71417	0.831000	0.32960	0.915000	0.54546	5.562000	0.67346	0.788000	0.33755	0.454000	0.30748	GAC		0.572	REXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054899.1		
ADAMTS13	11093	broad.mit.edu	37	9	136305482	136305482	+	Missense_Mutation	SNP	C	C	T	rs150234885	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:136305482C>T	ENST00000371929.3	+	16	2248	c.1804C>T	c.(1804-1806)Cgc>Tgc	p.R602C	ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.R571C|ADAMTS13_ENST00000536611.1_Missense_Mutation_p.R274C|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.R602C|ADAMTS13_ENST00000485925.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	602	Spacer.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R602C(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GATCGGAGGGCGCTATGTCGT	0.617																																					p.R602C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1804T	9						.	C	CYS/ARG,CYS/ARG,CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	132.0	95.0	107.0		1804,1711,1804	4.3	0.0	9	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	ADAMTS13	NM_139025.3,NM_139026.3,NM_139027.3	180,180,180	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	probably-damaging,probably-damaging,probably-damaging	602/1428,571/1341,602/1372	136305482	3,13003	2203	4300	6503	135295303	SO:0001583	missense	11093	exon16			AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.1804C>T	9.37:g.136305482C>T	ENSP00000360997:p.Arg602Cys		135295303	NM_139025	Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	ENST00000371929.3	37	CCDS6970.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.975214	0.34848	4.54E-4	1.16E-4	ENSG00000160323	ENST00000371929;ENST00000355699;ENST00000356589;ENST00000536611	T;T;T;T	0.69435	-0.37;-0.4;-0.38;0.05	5.21	4.29	0.51040	.	.	.	.	.	T	0.77896	0.4199	M	0.71206	2.165	0.31038	N	0.716609	D;D;D;D	0.76494	0.997;0.999;0.999;0.997	P;P;P;P	0.60345	0.75;0.873;0.873;0.75	T	0.79429	-0.1807	9	0.87932	D	0	.	13.4002	0.60879	0.0:0.5696:0.4304:0.0	.	602;571;602;274	Q76LX8;Q76LX8-3;Q76LX8-2;Q9UGQ1	ATS13_HUMAN;.;.;.	C	602;602;571;274	ENSP00000360997:R602C;ENSP00000347927:R602C;ENSP00000348997:R571C;ENSP00000444504:R274C	ENSP00000347927:R602C	R	+	1	0	ADAMTS13	135295303	0.000000	0.05858	0.041000	0.18516	0.008000	0.06430	0.865000	0.27940	1.154000	0.42482	0.561000	0.74099	CGC		0.617	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025	
COL5A1	1289	broad.mit.edu	37	9	137717724	137717724	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:137717724G>A	ENST00000371817.3	+	63	5455	c.5041G>A	c.(5041-5043)Gtc>Atc	p.V1681I		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1681	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.V1681I(1)|p.V1681F(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GTCGACATGCGTCTTCCCTGA	0.577																																					p.V1681I												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G5041A	9						.						75.0	64.0	68.0					9																	137717724		2203	4300	6503	136857545	SO:0001583	missense	1289	exon63			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.5041G>A	9.37:g.137717724G>A	ENSP00000360882:p.Val1681Ile		136857545	NM_000093	Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	CCDS6982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.588|2.588	-0.295846|-0.295846	0.05532|0.05532	.|.	.|.	ENSG00000130635|ENSG00000130635	ENST00000371820|ENST00000371817;ENST00000355306	.|T	.|0.72725	.|-0.68	4.12|4.12	0.482|0.482	0.16815|0.16815	.|Fibrillar collagen, C-terminal (3);	.|0.078334	.|0.49305	.|U	.|0.000153	T|T	0.32941|0.32941	0.0846|0.0846	N|N	0.01431|0.01431	-0.87|-0.87	0.28720|0.28720	N|N	0.903067|0.903067	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.32079|0.32079	-0.9920|-0.9920	5|10	.|0.07644	.|T	.|0.81	.|.	6.5278|6.5278	0.22310|0.22310	0.7394:0.0:0.2606:0.0|0.7394:0.0:0.2606:0.0	.|.	.|1681	.|P20908	.|CO5A1_HUMAN	H|I	100|1681;218	.|ENSP00000360882:V1681I	.|ENSP00000347458:V218I	R|V	+|+	2|1	0|0	COL5A1|COL5A1	136857545|136857545	1.000000|1.000000	0.71417|0.71417	0.856000|0.856000	0.33681|0.33681	0.577000|0.577000	0.36160|0.36160	3.841000|3.841000	0.55850|0.55850	0.192000|0.192000	0.20272|0.20272	0.289000|0.289000	0.19496|0.19496	CGT|GTC		0.577	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093	
MRPS2	51116	broad.mit.edu	37	9	138395594	138395594	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:138395594G>A	ENST00000371785.1	+	5	715	c.506G>A	c.(505-507)cGc>cAc	p.R169H	RP11-426A6.5_ENST00000415062.1_RNA|MRPS2_ENST00000488610.1_3'UTR|C9orf116_ENST00000371791.1_5'Flank|MRPS2_ENST00000241600.5_Missense_Mutation_p.R169H			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	169					translation (GO:0006412)	mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935)	structural constituent of ribosome (GO:0003735)	p.R169H(1)		large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		GCCCACACTCGCTACTTCAGG	0.597																																					p.R169H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G506A	9						.						60.0	54.0	56.0					9																	138395594		2203	4300	6503	137535415	SO:0001583	missense	51116	exon4			AB051627	CCDS6990.1	9q34	2012-09-13			ENSG00000122140	ENSG00000122140		"""Mitochondrial ribosomal proteins / small subunits"""	14495	protein-coding gene	gene with protein product		611971					Standard	NM_016034		Approved	CGI-91	uc004cfv.5	Q9Y399	OTTHUMG00000020910	ENST00000371785.1:c.506G>A	9.37:g.138395594G>A	ENSP00000360850:p.Arg169His		137535415	NM_016034	Q5T899|Q9BSQ4	Missense_Mutation	SNP	ENST00000371785.1	37	CCDS6990.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185324	0.78677	.	.	ENSG00000122140	ENST00000371785;ENST00000241600;ENST00000453385	T;T;T	0.28666	1.6;1.6;1.6	4.29	4.29	0.51040	Ribosomal protein S2, flavodoxin-like domain (1);	0.055555	0.64402	N	0.000001	T	0.40767	0.1130	N	0.17901	0.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.41106	-0.9527	10	0.52906	T	0.07	-46.3109	15.9048	0.79419	0.0:0.0:1.0:0.0	.	183;169	Q5T8A0;Q9Y399	.;RT02_HUMAN	H	169;169;183	ENSP00000360850:R169H;ENSP00000241600:R169H;ENSP00000400082:R183H	ENSP00000241600:R169H	R	+	2	0	MRPS2	137535415	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	8.535000	0.90623	2.211000	0.71520	0.585000	0.79938	CGC		0.597	MRPS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054998.1		
CAMSAP1	157922	broad.mit.edu	37	9	138713075	138713075	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:138713075C>T	ENST00000389532.4	-	11	3496	c.3432G>A	c.(3430-3432)acG>acA	p.T1144T	CAMSAP1_ENST00000409386.3_Silent_p.T1155T|CAMSAP1_ENST00000312405.6_Silent_p.T866T|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1144					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)	p.T1144T(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GGTCCGTGGGCGTCCGAGGGT	0.612																																					p.T1144T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3432A	9						.						62.0	75.0	70.0					9																	138713075		2203	4300	6503	137852896	SO:0001819	synonymous_variant	157922	exon11			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.3432G>A	9.37:g.138713075C>T			137852896	NM_015447	A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Silent	SNP	ENST00000389532.4	37	CCDS35176.2																																																																																				0.612	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857	
CAMSAP1	157922	broad.mit.edu	37	9	138713660	138713660	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:138713660G>A	ENST00000389532.4	-	11	2911	c.2847C>T	c.(2845-2847)gaC>gaT	p.D949D	CAMSAP1_ENST00000409386.3_Silent_p.D960D|CAMSAP1_ENST00000312405.6_Silent_p.D671D|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	949					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)	p.D949D(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TGGAAACAGCGTCCCCACAGT	0.582																																					p.D949D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2847T	9						.						106.0	113.0	111.0					9																	138713660		2203	4300	6503	137853481	SO:0001819	synonymous_variant	157922	exon11			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.2847C>T	9.37:g.138713660G>A			137853481	NM_015447	A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Silent	SNP	ENST00000389532.4	37	CCDS35176.2																																																																																				0.582	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857	
CAMSAP1	157922	broad.mit.edu	37	9	138714112	138714112	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:138714112C>A	ENST00000389532.4	-	11	2459	c.2395G>T	c.(2395-2397)Gcc>Tcc	p.A799S	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.A810S|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.A521S|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	799					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)	p.A799S(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		ATCTGAGAGGCTGTGCTCAGG	0.577																																					p.A799S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2395T	9						.						106.0	118.0	114.0					9																	138714112		2203	4300	6503	137853933	SO:0001583	missense	157922	exon11			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.2395G>T	9.37:g.138714112C>A	ENSP00000374183:p.Ala799Ser		137853933	NM_015447	A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	C	1.369	-0.586556	0.03827	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.67345	-0.26;-0.26;-0.26	5.08	-1.53	0.08611	.	0.527279	0.22128	N	0.064240	T	0.51058	0.1652	L	0.34521	1.04	0.09310	N	1	B;B	0.29646	0.078;0.253	B;B	0.30572	0.035;0.117	T	0.47433	-0.9118	10	0.87932	D	0	-6.3821	9.7411	0.40418	0.0:0.4222:0.0:0.5778	.	799;810	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	S	799;521;810	ENSP00000374183:A799S;ENSP00000312463:A521S;ENSP00000386420:A810S	ENSP00000312463:A521S	A	-	1	0	CAMSAP1	137853933	0.012000	0.17670	0.001000	0.08648	0.081000	0.17604	0.481000	0.22260	-0.444000	0.07170	-0.302000	0.09304	GCC		0.577	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857	
UBAC1	10422	broad.mit.edu	37	9	138838170	138838170	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:138838170C>T	ENST00000371756.3	-	5	706	c.489G>A	c.(487-489)gcG>gcA	p.A163A	UBAC1_ENST00000465873.1_5'Flank	NM_016172.2	NP_057256.2	Q9BSL1	UBAC1_HUMAN	UBA domain containing 1	163					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.A163A(1)		NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		ACAGCTTCTGCGCCACCTCGA	0.493																																					p.A163A	NSCLC(78;973 1398 27381 29552 42415)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G489A	9						.						110.0	101.0	104.0					9																	138838170		2203	4300	6503	137977991	SO:0001819	synonymous_variant	10422	exon5			AF176796	CCDS35177.1	9q34.3	2008-02-05	2007-04-20	2007-04-20	ENSG00000130560	ENSG00000130560			30221	protein-coding gene	gene with protein product		608129	"""ubiquitin associated domain containing 1"""	UBADC1		10857748, 8619474	Standard	NM_016172		Approved	GBDR1	uc004cgt.3	Q9BSL1	OTTHUMG00000020920	ENST00000371756.3:c.489G>A	9.37:g.138838170C>T			137977991	NM_016172	O75500|Q9UMW7	Silent	SNP	ENST00000371756.3	37	CCDS35177.1																																																																																				0.493	UBAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055034.1	NM_016172	
SEC16A	9919	broad.mit.edu	37	9	139350203	139350203	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:139350203G>A	ENST00000371706.3	-	18	5206	c.5173C>T	c.(5173-5175)Cag>Tag	p.Q1725*	SEC16A_ENST00000313050.7_Nonsense_Mutation_p.Q1903*|SEC16A_ENST00000431893.2_Nonsense_Mutation_p.Q1725*|SEC16A_ENST00000290037.6_Nonsense_Mutation_p.Q1725*			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1725					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.Q1903*(2)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CCAGGACACTGCTGCGGGAGG	0.662																																					p.Q1903X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C5707T	9						.						21.0	28.0	26.0					9																	139350203		2114	4211	6325	138470024	SO:0001587	stop_gained	9919	exon20			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.5173C>T	9.37:g.139350203G>A	ENSP00000360771:p.Gln1725*		138470024	NM_014866	A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Nonsense_Mutation	SNP	ENST00000371706.3	37		.	.	.	.	.	.	.	.	.	.	G	39	7.770949	0.98480	.	.	ENSG00000148396	ENST00000313050;ENST00000277537;ENST00000453963;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925	.	.	.	4.9	3.01	0.34805	.	0.492032	0.23096	N	0.051976	.	.	.	.	.	.	0.18873	N	0.999988	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-2.4785	13.0402	0.58895	0.0:0.3092:0.6908:0.0	.	.	.	.	X	1903;297;625;1725;1725;1725;1293	.	ENSP00000277537:Q297X	Q	-	1	0	SEC16A	138470024	0.956000	0.32656	0.001000	0.08648	0.010000	0.07245	3.548000	0.53670	0.538000	0.28769	0.591000	0.81541	CAG		0.662	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459	
SEC16A	9919	broad.mit.edu	37	9	139371399	139371399	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:139371399C>T	ENST00000371706.3	-	1	168	c.135G>A	c.(133-135)caG>caA	p.Q45Q	SEC16A_ENST00000313050.7_Silent_p.Q223Q|SEC16A_ENST00000431893.2_Silent_p.Q45Q|SEC16A_ENST00000290037.6_Silent_p.Q45Q			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	45					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.Q223Q(2)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GCCCCGAGGGCTGTGGGCCTC	0.657																																					p.Q223Q												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G669A	9						.						25.0	29.0	28.0					9																	139371399		2129	4222	6351	138491220	SO:0001819	synonymous_variant	9919	exon3			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.135G>A	9.37:g.139371399C>T			138491220	NM_014866	A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	ENST00000371706.3	37																																																																																					0.657	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459	
TRAF2	7186	broad.mit.edu	37	9	139802604	139802604	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:139802604G>A	ENST00000247668.2	+	5	501	c.449G>A	c.(448-450)cGc>cAc	p.R150H	TRAF2_ENST00000482854.1_3'UTR|TRAF2_ENST00000536468.1_Missense_Mutation_p.R150H|TRAF2_ENST00000359662.3_Missense_Mutation_p.R202H	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	150					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein complex assembly (GO:0043623)|cellular response to nitric oxide (GO:0071732)|innate immune response (GO:0045087)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron death (GO:1901215)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|programmed necrotic cell death (GO:0097300)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein complex assembly (GO:0006461)|protein heterooligomerization (GO:0051291)|protein homotrimerization (GO:0070207)|protein K63-linked ubiquitination (GO:0070534)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of immunoglobulin secretion (GO:0051023)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|membrane raft (GO:0045121)|ubiquitin ligase complex (GO:0000151)	CD40 receptor binding (GO:0005174)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein phosphatase binding (GO:0019903)|signal transducer activity (GO:0004871)|sphingolipid binding (GO:0046625)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R150H(1)		breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		GAAAAGGAGCGCCACCTGGAG	0.657																																					p.R150H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G449A	9						.						42.0	42.0	42.0					9																	139802604		2203	4300	6503	138922425	SO:0001583	missense	7186	exon5			U12597	CCDS7013.1	9q34	2013-01-09			ENSG00000127191	ENSG00000127191		"""RING-type (C3HC4) zinc fingers"""	12032	protein-coding gene	gene with protein product		601895				7639698	Standard	NM_021138		Approved	TRAP3	uc004cjv.3	Q12933	OTTHUMG00000020952	ENST00000247668.2:c.449G>A	9.37:g.139802604G>A	ENSP00000247668:p.Arg150His		138922425	NM_021138	A8K107|B4DPJ7|Q7Z337|Q96NT2	Missense_Mutation	SNP	ENST00000247668.2	37	CCDS7013.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.563495	0.27915	.	.	ENSG00000127191	ENST00000419057;ENST00000536468;ENST00000429509;ENST00000432785;ENST00000247668;ENST00000359662;ENST00000371645	T;T;T;T;T	0.36878	1.78;1.52;1.78;1.52;1.23	4.16	-2.75	0.05914	Zinc finger, TRAF-type (1);	0.538250	0.20185	N	0.097434	T	0.21387	0.0515	N	0.25825	0.765	0.33277	D	0.561848	B;B;B;B	0.23937	0.012;0.012;0.094;0.003	B;B;B;B	0.24394	0.02;0.02;0.053;0.002	T	0.14172	-1.0482	10	0.33141	T	0.24	-21.6945	10.7291	0.46085	0.4009:0.0:0.5991:0.0	.	139;150;202;150	Q12933-3;Q12933-4;Q12933-2;Q12933	.;.;.;TRAF2_HUMAN	H	150;150;150;174;150;202;202	ENSP00000405860:R150H;ENSP00000446414:R150H;ENSP00000406524:R150H;ENSP00000247668:R150H;ENSP00000352685:R202H	ENSP00000247668:R150H	R	+	2	0	TRAF2	138922425	0.813000	0.29090	0.295000	0.24960	0.717000	0.41224	1.147000	0.31602	-0.360000	0.08138	0.561000	0.74099	CGC		0.657	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055166.1	NM_021138	
NELFB	25920	broad.mit.edu	37	9	140150859	140150859	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:140150859C>T	ENST00000343053.4	+	3	682	c.345C>T	c.(343-345)tgC>tgT	p.C115C		NM_015456.3	NP_056271.2	Q8WX92	NELFB_HUMAN	negative elongation factor complex member B	115					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.C115C(1)									TGGTGATGTGCGTCATGAAGC	0.567																																					p.C115C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C345T	9						.						148.0	121.0	130.0					9																	140150859		2203	4300	6503	139270680	SO:0001819	synonymous_variant	25920	exon3			AF464935	CCDS7040.1	9q34	2013-01-31	2013-01-31	2013-01-31	ENSG00000188986	ENSG00000188986			24324	protein-coding gene	gene with protein product		611180	"""cofactor of BRCA1"""	COBRA1		11230166, 10574461, 17910036, 17659869	Standard	NM_015456		Approved	KIAA1182, NELF-B	uc004cmm.4	Q8WX92	OTTHUMG00000131778	ENST00000343053.4:c.345C>T	9.37:g.140150859C>T			139270680	NM_015456	A2BFA3|Q96EW5|Q9H9R4|Q9ULN8|Q9Y3W0	Silent	SNP	ENST00000343053.4	37	CCDS7040.1																																																																																				0.567	NELFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254710.1	NM_015456	
KCNV2	169522	broad.mit.edu	37	9	2718013	2718013	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:2718013C>T	ENST00000382082.3	+	1	512	c.274C>T	c.(274-276)Cct>Tct	p.P92S		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	92					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.P92S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		CCCCAGCGACCCTCCGGCCCT	0.677																																					p.P92S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C274T	9						.						67.0	48.0	54.0					9																	2718013		2202	4296	6498	2708013	SO:0001583	missense	169522	exon1			AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.274C>T	9.37:g.2718013C>T	ENSP00000371514:p.Pro92Ser		2708013	NM_133497	Q5T6X0	Missense_Mutation	SNP	ENST00000382082.3	37	CCDS6447.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.413286	0.00191	.	.	ENSG00000168263	ENST00000423608;ENST00000382082	D	0.96396	-4.0	4.53	-9.06	0.00727	.	1.700920	0.03158	N	0.168937	D	0.82967	0.5152	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.81333	-0.0980	10	0.02654	T	1	.	0.6766	0.00868	0.2755:0.3218:0.1929:0.2098	.	92	Q8TDN2	KCNV2_HUMAN	S	92	ENSP00000371514:P92S	ENSP00000371514:P92S	P	+	1	0	KCNV2	2708013	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.597000	0.05713	-2.337000	0.00628	-0.499000	0.04595	CCT		0.677	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497	
JAK2	3717	broad.mit.edu	37	9	5089700	5089700	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:5089700C>T	ENST00000381652.3	+	20	3092	c.2598C>T	c.(2596-2598)tgC>tgT	p.C866C	JAK2_ENST00000539801.1_Silent_p.C866C|JAK2_ENST00000544510.1_Silent_p.C717C	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	866	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)	p.C866C(1)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TGGAGATGTGCCGGTATGACC	0.388		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																												p.C866C			Dom	yes		9	9p24	3717	Janus kinase 2		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2598T	9						.						139.0	129.0	132.0					9																	5089700		2203	4300	6503	5079700	SO:0001819	synonymous_variant	3717	exon20	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.2598C>T	9.37:g.5089700C>T			5079700	NM_004972	O14636|O75297	Silent	SNP	ENST00000381652.3	37	CCDS6457.1																																																																																				0.388	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1		
ADAMTSL1	92949	broad.mit.edu	37	9	18675872	18675872	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:18675872T>G	ENST00000380548.4	+	10	1442	c.1103T>G	c.(1102-1104)aTc>aGc	p.I368S	ADAMTSL1_ENST00000380566.4_Intron|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.I368S|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.I368S	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	368						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.I368S(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TACAAGCAGATCATGCCTTAT	0.353																																					p.I368S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1103G	9						.						243.0	184.0	204.0					9																	18675872		2203	4300	6503	18665872	SO:0001583	missense	92949	exon10			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.1103T>G	9.37:g.18675872T>G	ENSP00000369921:p.Ile368Ser		18665872	NM_052866	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.221815	0.79464	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000276935	T;T;T	0.63744	-0.06;-0.03;-0.06	5.59	5.59	0.84812	.	.	.	.	.	T	0.68586	0.3017	L	0.28556	0.865	0.80722	D	1	D	0.76494	0.999	D	0.65874	0.939	T	0.71148	-0.4677	9	0.54805	T	0.06	.	15.7538	0.78009	0.0:0.0:0.0:1.0	.	368	Q8N6G6	ATL1_HUMAN	S	368	ENSP00000369921:I368S;ENSP00000327887:I368S;ENSP00000276935:I368S	ENSP00000276935:I368S	I	+	2	0	ADAMTSL1	18665872	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.505000	0.81655	2.137000	0.66172	0.533000	0.62120	ATC		0.353	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1		
FAM154A	158297	broad.mit.edu	37	9	18950922	18950922	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:18950922G>A	ENST00000380534.4	-	2	331	c.52C>T	c.(52-54)Cca>Tca	p.P18S	FAM154A_ENST00000380530.1_Missense_Mutation_p.P18S|FAM154A_ENST00000542071.1_5'UTR|FAM154A_ENST00000583128.1_5'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	18								p.P18S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		GGGAGATGTGGACAGTGATGC	0.428																																					p.P18S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C52T	9						.						134.0	127.0	130.0					9																	18950922		2203	4300	6503	18940922	SO:0001583	missense	158297	exon2			BC033489	CCDS6487.1, CCDS75819.1, CCDS75820.1	9p22.1	2012-03-23	2008-02-21	2008-02-21	ENSG00000155875	ENSG00000155875			28566	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 138"""	C9orf138		12477932	Standard	NM_153707		Approved	MGC35182	uc003zni.2	Q8IYX7	OTTHUMG00000019609	ENST00000380534.4:c.52C>T	9.37:g.18950922G>A	ENSP00000369907:p.Pro18Ser		18940922	NM_153707	Q5VY58	Missense_Mutation	SNP	ENST00000380534.4	37	CCDS6487.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377708	0.82682	.	.	ENSG00000155875	ENST00000380534;ENST00000380530	T;T	0.27256	2.37;1.68	5.54	5.54	0.83059	.	0.000000	0.52532	D	0.000061	T	0.55909	0.1950	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59974	-0.7353	10	0.62326	D	0.03	-8.2947	16.9674	0.86290	0.0:0.0:1.0:0.0	.	18	Q8IYX7	F154A_HUMAN	S	18	ENSP00000369907:P18S;ENSP00000369902:P18S	ENSP00000369902:P18S	P	-	1	0	FAM154A	18940922	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.612000	0.67681	2.609000	0.88269	0.655000	0.94253	CCA		0.428	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051811.1	NM_153707	
IFNA16	3449	broad.mit.edu	37	9	21216970	21216970	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:21216970A>C	ENST00000380216.1	-	1	340	c.335T>G	c.(334-336)cTt>cGt	p.L112R		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	112					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.L112R(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TTGCTGGAAAAGTTCAATGTA	0.483																																					p.L112R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T335G	9						.						143.0	143.0	143.0					9																	21216970		2203	4300	6503	21206970	SO:0001583	missense	3449	exon1				CCDS34996.1	9p22	2010-12-10			ENSG00000147885	ENSG00000147885		"""Interferons"""	5421	protein-coding gene	gene with protein product		147580				1385305	Standard	NM_002173		Approved	IFN-alphaO	uc003zor.1	P05015	OTTHUMG00000019663	ENST00000380216.1:c.335T>G	9.37:g.21216970A>C	ENSP00000369564:p.Leu112Arg		21206970	NM_002173	Q5VV12	Missense_Mutation	SNP	ENST00000380216.1	37	CCDS34996.1	.	.	.	.	.	.	.	.	.	.	-	12.83	2.055408	0.36277	.	.	ENSG00000147885	ENST00000380216	T	0.20332	2.08	2.62	2.62	0.31277	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.155631	0.43260	D	0.000585	T	0.55449	0.1921	H	0.97103	3.94	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.52215	-0.8605	10	0.87932	D	0	.	8.38	0.32466	1.0:0.0:0.0:0.0	.	112	P05015	IFN16_HUMAN	R	112	ENSP00000369564:L112R	ENSP00000369564:L112R	L	-	2	0	IFNA16	21206970	0.025000	0.19082	0.002000	0.10522	0.014000	0.08584	2.900000	0.48687	1.206000	0.43276	0.155000	0.16302	CTT		0.483	IFNA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051892.1	NM_002173	
ELAVL2	1993	broad.mit.edu	37	9	23692803	23692803	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:23692803T>A	ENST00000397312.2	-	7	1106	c.832A>T	c.(832-834)Ata>Tta	p.I278L	ELAVL2_ENST00000544538.1_Missense_Mutation_p.I278L|ELAVL2_ENST00000380110.4_Missense_Mutation_p.I308L|ELAVL2_ENST00000223951.6_Missense_Mutation_p.I265L|ELAVL2_ENST00000380117.1_Missense_Mutation_p.I278L	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	278	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.I278L(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TACACAAATATACACCACCCT	0.468																																					p.I265L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A793T	9						.						95.0	89.0	91.0					9																	23692803		2203	4300	6503	23682803	SO:0001583	missense	1993	exon6			BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.832A>T	9.37:g.23692803T>A	ENSP00000380479:p.Ile278Leu		23682803	NM_001171197	D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	ENST00000397312.2	37	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	T	19.72	3.880918	0.72294	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598	T;T;T;T	0.13089	2.62;2.62;2.62;2.62	5.81	5.81	0.92471	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.041993	0.85682	D	0.000000	T	0.13927	0.0337	N	0.02985	-0.445	0.80722	D	1	P;D	0.54964	0.937;0.969	P;P	0.61592	0.669;0.891	T	0.48927	-0.8991	10	0.20046	T	0.44	.	16.1563	0.81670	0.0:0.0:0.0:1.0	.	278;265	Q12926;Q12926-2	ELAV2_HUMAN;.	L	265;278;278;265;278;306	ENSP00000223951:I265L;ENSP00000380479:I278L;ENSP00000440998:I278L;ENSP00000369460:I278L	ENSP00000223951:I265L	I	-	1	0	ELAVL2	23682803	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.678000	0.84035	2.220000	0.72140	0.454000	0.30748	ATA		0.468	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432	
FANCG	2189	broad.mit.edu	37	9	35076007	35076007	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:35076007C>A	ENST00000378643.3	-	9	1586	c.1095G>T	c.(1093-1095)gaG>gaT	p.E365D	VCP_ENST00000358901.6_5'Flank|FANCG_ENST00000476212.1_Intron	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	365					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|mitochondrion organization (GO:0007005)|ovarian follicle development (GO:0001541)|response to radiation (GO:0009314)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	damaged DNA binding (GO:0003684)	p.E365D(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CCAAGTAATGCTCTGCAGCGT	0.567			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks																													p.E365D		yes	Rec		Fanconi anaemia G	9	9p13	2189	"""Fanconi anemia, complementation group G"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1095T	9						.						128.0	125.0	126.0					9																	35076007		2203	4300	6503	35066007	SO:0001583	missense	2189	exon9			AJ007669	CCDS6574.1	9p13	2014-09-17			ENSG00000221829	ENSG00000221829		"""Fanconi anemia, complementation groups"""	3588	protein-coding gene	gene with protein product	"""DNA repair protein XRCC9"", ""X-ray repair, complementing defective, in Chinese hamster, 9"", ""X-ray repair complementing defective repair in Chinese hamster cells 9"""	602956		XRCC9		9256465, 9382107	Standard	NM_004629		Approved	FAG	uc003zwb.1	O15287	OTTHUMG00000019850	ENST00000378643.3:c.1095G>T	9.37:g.35076007C>A	ENSP00000367910:p.Glu365Asp		35066007	NM_004629		Missense_Mutation	SNP	ENST00000378643.3	37	CCDS6574.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365152	0.61513	.	.	ENSG00000221829	ENST00000378643;ENST00000543657	T	0.17691	2.26	5.33	0.168	0.15012	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.34629	0.0904	M	0.72894	2.215	0.37870	D	0.93004	D	0.76494	0.999	D	0.76071	0.987	T	0.21965	-1.0230	9	0.87932	D	0	-13.0797	7.9259	0.29874	0.0:0.532:0.0:0.468	.	365	O15287	FANCG_HUMAN	D	365	ENSP00000367910:E365D	ENSP00000367910:E365D	E	-	3	2	FANCG	35066007	0.996000	0.38824	0.998000	0.56505	0.994000	0.84299	0.100000	0.15231	-0.005000	0.14395	-0.136000	0.14681	GAG		0.567	FANCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052269.1	NM_004629	
UNC13B	10497	broad.mit.edu	37	9	35236523	35236523	+	Silent	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:35236523C>A	ENST00000378495.3	+	4	432	c.210C>A	c.(208-210)atC>atA	p.I70I	UNC13B_ENST00000378496.4_Silent_p.I70I|UNC13B_ENST00000396787.1_Silent_p.I70I	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	70	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)	p.I70I(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			AAGGACTGATCTGGGACACCA	0.483																																					p.I70I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C210A	9						.						268.0	227.0	241.0					9																	35236523		2203	4300	6503	35226523	SO:0001819	synonymous_variant	10497	exon4			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.210C>A	9.37:g.35236523C>A			35226523	NM_006377	Q5VYM8	Silent	SNP	ENST00000378495.3	37	CCDS6579.1																																																																																				0.483	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377	
RUSC2	9853	broad.mit.edu	37	9	35547106	35547106	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:35547106A>G	ENST00000455600.1	+	2	1157	c.588A>G	c.(586-588)gaA>gaG	p.E196E	RUSC2_ENST00000468041.1_3'UTR	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	196						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)	p.E196E(1)		NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CAGAGCTGGAAGCAGAGACTA	0.612																																					p.E196E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A588G	9						.						46.0	44.0	44.0					9																	35547106		2203	4300	6503	35537106	SO:0001819	synonymous_variant	9853	exon2			AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.588A>G	9.37:g.35547106A>G			35537106	NM_014806	A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Silent	SNP	ENST00000455600.1	37	CCDS35008.1																																																																																				0.612	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462	
RUSC2	9853	broad.mit.edu	37	9	35548047	35548047	+	Missense_Mutation	SNP	G	G	T	rs375895463		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:35548047G>T	ENST00000455600.1	+	2	2098	c.1529G>T	c.(1528-1530)cGc>cTc	p.R510L		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	510						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)	p.R510L(1)		NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CCTCCTGTCCGCCTGGGCTCG	0.647																																					p.R510L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1529T	9						.						35.0	37.0	36.0					9																	35548047		2203	4300	6503	35538047	SO:0001583	missense	9853	exon2			AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.1529G>T	9.37:g.35548047G>T	ENSP00000393922:p.Arg510Leu		35538047	NM_014806	A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378500	0.82682	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.47528	0.84;0.84	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.60676	0.2287	L	0.34521	1.04	0.51767	D	0.999936	D	0.89917	1.0	D	0.85130	0.997	T	0.63238	-0.6682	10	0.72032	D	0.01	-17.3613	18.3278	0.90260	0.0:0.0:1.0:0.0	.	510	Q8N2Y8	RUSC2_HUMAN	L	510	ENSP00000355177:R510L;ENSP00000393922:R510L	ENSP00000355177:R510L	R	+	2	0	RUSC2	35538047	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.300000	0.96151	2.569000	0.86673	0.655000	0.94253	CGC		0.647	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462	
GBA2	57704	broad.mit.edu	37	9	35739047	35739047	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:35739047C>A	ENST00000378103.3	-	11	2270	c.1747G>T	c.(1747-1749)Gca>Tca	p.A583S	GBA2_ENST00000378094.4_Missense_Mutation_p.A583S|GBA2_ENST00000378088.1_5'Flank|GBA2_ENST00000545786.1_Missense_Mutation_p.A589S|GBA2_ENST00000467252.1_5'UTR	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	583					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)	p.A583S(1)		NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTCACAGGTGCCATCACCCCA	0.582																																					p.A583S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1747T	9						.						82.0	77.0	79.0					9																	35739047		2203	4300	6503	35729047	SO:0001583	missense	57704	exon11			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.1747G>T	9.37:g.35739047C>A	ENSP00000367343:p.Ala583Ser		35729047	NM_020944	D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493077	0.44352	.	.	ENSG00000070610	ENST00000378103;ENST00000378094;ENST00000545786	.	.	.	5.69	5.69	0.88448	Six-hairpin glycosidase-like (1);Glucosylceramidase (1);	0.207432	0.51477	D	0.000088	T	0.59865	0.2225	L	0.50333	1.59	0.58432	D	0.999995	B;B;B	0.25809	0.135;0.075;0.066	B;B;B	0.27500	0.08;0.017;0.053	T	0.54002	-0.8358	9	0.22706	T	0.39	-3.5453	19.8052	0.96529	0.0:1.0:0.0:0.0	.	589;583;583	F5H7P6;Q9HCG7-2;Q9HCG7	.;.;GBA2_HUMAN	S	583;583;589	.	ENSP00000367334:A583S	A	-	1	0	GBA2	35729047	1.000000	0.71417	0.778000	0.31720	0.932000	0.56968	4.664000	0.61540	2.688000	0.91661	0.561000	0.74099	GCA		0.582	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944	
NPR2	4882	broad.mit.edu	37	9	35792776	35792776	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:35792776C>T	ENST00000342694.2	+	1	626	c.371C>T	c.(370-372)gCt>gTt	p.A124V		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	124					bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.A124V(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	ACTGCGGGTGCTGTGGCCTCT	0.607																																					p.A124V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C371T	9						.						120.0	103.0	109.0					9																	35792776		2203	4300	6503	35782776	SO:0001583	missense	4882	exon1			AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.371C>T	9.37:g.35792776C>T	ENSP00000341083:p.Ala124Val		35782776	NM_003995	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034137	0.75617	.	.	ENSG00000159899	ENST00000342694	D	0.85013	-1.93	3.93	3.93	0.45458	Extracellular ligand-binding receptor (1);	0.000000	0.43919	D	0.000518	D	0.91369	0.7277	M	0.81682	2.555	0.39138	D	0.961996	D;D	0.69078	0.997;0.973	D;P	0.69142	0.962;0.816	D	0.92650	0.6132	10	0.54805	T	0.06	.	13.6299	0.62189	0.0:1.0:0.0:0.0	.	124;124	P20594-2;P20594	.;ANPRB_HUMAN	V	124	ENSP00000341083:A124V	ENSP00000341083:A124V	A	+	2	0	NPR2	35782776	0.996000	0.38824	1.000000	0.80357	0.994000	0.84299	3.378000	0.52432	2.183000	0.69458	0.563000	0.77884	GCT		0.607	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1		
OR13J1	392309	broad.mit.edu	37	9	35870002	35870002	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:35870002G>A	ENST00000377981.2	-	1	459	c.397C>T	c.(397-399)Cac>Tac	p.H133Y		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	133			H -> R (in dbSNP:rs7044405).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H133Y(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			ATGAGCACGTGGTACCTGAGT	0.622																																					p.H133Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C397T	9						.																																			35860002	SO:0001583	missense	392309	exon1				CCDS35011.1	9p13.3	2013-09-24			ENSG00000168828	ENSG00000168828		"""GPCR / Class A : Olfactory receptors"""	15108	protein-coding gene	gene with protein product							Standard	NM_001004487		Approved		uc011lph.2	Q8NGT2	OTTHUMG00000019879	ENST00000377981.2:c.397C>T	9.37:g.35870002G>A	ENSP00000367219:p.His133Tyr		35860002	NM_001004487	B2RN66|Q6IF20|Q96R40	Missense_Mutation	SNP	ENST00000377981.2	37	CCDS35011.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.977218	0.34848	.	.	ENSG00000168828	ENST00000377981	T	0.01335	5.0	4.62	3.71	0.42584	GPCR, rhodopsin-like superfamily (1);	0.112691	0.40302	N	0.001130	T	0.01092	0.0036	N	0.26042	0.785	0.18873	N	0.999983	P	0.40398	0.716	B	0.24701	0.055	T	0.55477	-0.8135	10	0.41790	T	0.15	.	12.4119	0.55471	0.0:0.0:0.8305:0.1695	.	133	Q8NGT2	O13J1_HUMAN	Y	133	ENSP00000367219:H133Y	ENSP00000367219:H133Y	H	-	1	0	OR13J1	35860002	0.000000	0.05858	0.894000	0.35097	0.540000	0.34992	-0.698000	0.05092	1.527000	0.49086	0.650000	0.86243	CAC		0.622	OR13J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052381.1		
GNE	10020	broad.mit.edu	37	9	36233937	36233937	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:36233937C>T	ENST00000539815.1	-	4	1002	c.962G>A	c.(961-963)cGt>cAt	p.R321H	GNE_ENST00000543356.2_Missense_Mutation_p.R316H|GNE_ENST00000539208.1_Missense_Mutation_p.R211H|GNE_ENST00000377902.5_Missense_Mutation_p.R321H|GNE_ENST00000396594.3_Missense_Mutation_p.R352H|GNE_ENST00000447283.2_Missense_Mutation_p.R321H			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	321					carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761)	p.R321H(1)		endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			TCCAATCTGACGTGTTCCCAG	0.433																																					p.R352H	GBM(184;106 2118 20004 35750 50727)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1055A	9						.						204.0	182.0	189.0					9																	36233937		2203	4300	6503	36223937	SO:0001583	missense	10020	exon5			AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"""UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"""	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000539815.1:c.962G>A	9.37:g.36233937C>T	ENSP00000439155:p.Arg321His		36223937	NM_001128227	A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Missense_Mutation	SNP	ENST00000539815.1	37	CCDS6602.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.023349	0.93462	.	.	ENSG00000159921	ENST00000377902;ENST00000396594;ENST00000339267;ENST00000539815;ENST00000543356;ENST00000539208;ENST00000447283	D;D;D;D;D	0.99815	-6.9;-6.9;-6.9;-6.9;-6.9	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.89353	3.025	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.999;0.999;0.999	D	0.96795	0.9585	10	0.87932	D	0	-24.2098	16.8418	0.85971	0.0:1.0:0.0:0.0	.	211;280;352;321;321	F5H499;Q9Y223-3;Q9Y223-2;Q9Y223;A7UNU7	.;.;.;GLCNE_HUMAN;.	H	321;352;316;321;293;211;321	ENSP00000367134:R321H;ENSP00000379839:R352H;ENSP00000439155:R321H;ENSP00000445117:R211H;ENSP00000414760:R321H	ENSP00000340770:R316H	R	-	2	0	GNE	36223937	1.000000	0.71417	0.988000	0.46212	0.976000	0.68499	7.101000	0.76997	2.638000	0.89438	0.650000	0.86243	CGT		0.433	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052412.4	NM_005476	
CNTNAP3	79937	broad.mit.edu	37	9	39099923	39099923	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:39099923G>A	ENST00000297668.6	-	18	3053	c.2980C>T	c.(2980-2982)Ccg>Tcg	p.P994S	CNTNAP3_ENST00000377656.2_Intron|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.P906S	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	994	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P994S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GAGCAGAACGGCCCATCATAG	0.468																																					p.P994S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2980T	9						.						50.0	40.0	43.0					9																	39099923		2202	4296	6498	39089923	SO:0001583	missense	79937	exon18			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.2980C>T	9.37:g.39099923G>A	ENSP00000297668:p.Pro994Ser		39089923	NM_033655	B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	g	15.08	2.727801	0.48833	.	.	ENSG00000106714	ENST00000297668;ENST00000358144	T;T	0.78364	-1.17;-1.17	3.68	3.68	0.42216	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.82231	0.4992	M	0.73598	2.24	0.80722	D	1	P;P	0.51351	0.944;0.773	P;B	0.51170	0.661;0.358	D	0.84379	0.0548	9	0.49607	T	0.09	.	14.5437	0.68013	0.0:0.0:1.0:0.0	.	994;994	Q9BZ76-2;Q9BZ76	.;CNTP3_HUMAN	S	994;906	ENSP00000297668:P994S;ENSP00000350863:P906S	ENSP00000297668:P994S	P	-	1	0	CNTNAP3	39089923	1.000000	0.71417	0.917000	0.36280	0.498000	0.33706	2.221000	0.42917	2.035000	0.60131	0.485000	0.47835	CCG		0.468	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655	
FAM74A7	100996582	broad.mit.edu	37	9	40715906	40715906	+	lincRNA	SNP	T	T	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:40715906T>A	ENST00000432614.1	-	0	0				FAM74A3_ENST00000604146.1_lincRNA														p.S20T(1)									TCAGAGGCTGTCCCGGAGAAG	0.557																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	9						.						21.0	17.0	18.0					9																	40715906		2143	4140	6283	40705906			728495	.																															9.37:g.40715906T>A			40705906	.		Missense_Mutation	SNP	ENST00000432614.1	37																																																																																					0.557	RP11-395E19.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000143688.1		
ZNF658	26149	broad.mit.edu	37	9	40772182	40772183	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	AA	AA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:40772182_40772183delAA	ENST00000602553.1	-	5	3386_3387	c.3092_3093delTT	c.(3091-3093)tttfs	p.F1031fs	ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Frame_Shift_Del_p.F1031fs			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	1031					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F1031fs*3(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CCTTACGGACAAAAGTTTTCCC	0.446																																					p.1031_1031del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.3092_3093del	9						.																																			40762183	SO:0001589	frameshift_variant	26149	exon5			AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.3092_3093delTT	9.37:g.40772184_40772185delAA	ENSP00000473484:p.Phe1031fs		40762182	NM_033160	Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Frame_Shift_Del	DEL	ENST00000602553.1	37	CCDS35023.1																																																																																				0.446	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160	
SPATA31A7	26165	broad.mit.edu	37	9	65506469	65506469	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:65506469C>T	ENST00000355045.2	-	4	1119	c.1091G>A	c.(1090-1092)cGg>cAg	p.R364Q	SPATA31A7_ENST00000491812.2_5'Flank	NM_015667.2	NP_056482.2	Q8IWB4	S31A7_HUMAN	SPATA31 subfamily A, member 7	364					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.R364Q(1)									AGCCAAATTCCGCAAATAATT	0.433																																					p.R364Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1091A	9						.						26.0	30.0	29.0					9																	65506469		939	2292	3231	65246289	SO:0001583	missense	727905	exon4				CCDS75838.1	9q12	2014-04-11	2012-10-12	2012-10-12	ENSG00000234734	ENSG00000276040			32007	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A7"""	FAM75A7		20850414	Standard	NM_015667		Approved	OTTHUMG00000013196		Q8IWB4	OTTHUMG00000188536	ENST00000355045.2:c.1091G>A	9.37:g.65506469C>T	ENSP00000347153:p.Arg364Gln		65246289	NM_015667	Q5TZK4|Q9Y4Q5	Missense_Mutation	SNP	ENST00000355045.2	37	CCDS43825.1	.	.	.	.	.	.	.	.	.	.	C	7.150	0.583656	0.13749	.	.	ENSG00000234734	ENST00000355045	T	0.04049	3.72	1.32	0.38	0.16222	.	0.559459	0.15054	N	0.283107	T	0.02012	0.0063	N	0.08118	0	0.09310	N	1	B	0.20459	0.045	B	0.20767	0.031	T	0.48091	-0.9065	10	0.12103	T	0.63	0.0106	3.591	0.07989	0.0:0.7358:0.0:0.2642	.	364	Q8IWB4	F75A7_HUMAN	Q	364	ENSP00000347153:R364Q	ENSP00000347153:R364Q	R	-	2	0	FAM75A7	65246289	0.001000	0.12720	0.002000	0.10522	0.027000	0.11550	-0.134000	0.10436	0.131000	0.18576	0.162000	0.16502	CGG		0.433	SPATA31A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036952.1	NM_015667	
RORB	6096	broad.mit.edu	37	9	77245261	77245261	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:77245261T>C	ENST00000396204.2	+	2	104	c.104T>C	c.(103-105)gTc>gCc	p.V35A	RORB_ENST00000376896.3_Missense_Mutation_p.V24A			Q92753	RORB_HUMAN	RAR-related orphan receptor B	35					amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.V24A(1)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	CACTACGGAGTCATCACATGT	0.448																																					p.V24A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T71C	9						.						165.0	135.0	145.0					9																	77245261		2203	4300	6503	76435081	SO:0001583	missense	6096	exon2			Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"""Nuclear hormone receptors"""	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.104T>C	9.37:g.77245261T>C	ENSP00000379507:p.Val35Ala		76435081	NM_006914	Q8WX73	Missense_Mutation	SNP	ENST00000396204.2	37		.	.	.	.	.	.	.	.	.	.	T	23.5	4.421679	0.83559	.	.	ENSG00000198963	ENST00000376896;ENST00000396204	D;D	0.97665	-4.48;-4.48	5.3	4.16	0.48862	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.97390	0.9146	L	0.49455	1.56	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.996;0.977	D	0.97298	0.9929	10	0.87932	D	0	.	11.2332	0.48925	0.0:0.0723:0.0:0.9277	.	35;24	Q92753;Q58EY0	RORB_HUMAN;.	A	24;35	ENSP00000366093:V24A;ENSP00000379507:V35A	ENSP00000366093:V24A	V	+	2	0	RORB	76435081	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.990000	0.88215	0.953000	0.37825	0.460000	0.39030	GTC		0.448	RORB-201	KNOWN	basic	protein_coding	protein_coding			
TLE4	7091	broad.mit.edu	37	9	82267590	82267590	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:82267590C>T	ENST00000376552.2	+	7	1491	c.473C>T	c.(472-474)cCt>cTt	p.P158L	TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000265284.6_Missense_Mutation_p.P133L|TLE4_ENST00000376544.3_Missense_Mutation_p.P158L|TLE4_ENST00000376537.4_Missense_Mutation_p.P158L|TLE4_ENST00000376520.4_Missense_Mutation_p.P158L|TLE4_ENST00000376534.4_5'UTR	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	158	Gly/Pro-rich (GP domain).				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)	p.P158L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTCCAGCCCCCTGCCATTCCA	0.537																																					p.P158L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C473T	9						.						96.0	102.0	100.0					9																	82267590		1994	4151	6145	81457410	SO:0001583	missense	7091	exon7			M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.473C>T	9.37:g.82267590C>T	ENSP00000365735:p.Pro158Leu		81457410	NM_007005	F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	C	33	5.242052	0.95272	.	.	ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000399288;ENST00000435650;ENST00000376537;ENST00000265284;ENST00000425506;ENST00000428713;ENST00000490347	T;T;T;T;T;T;T;T;T	0.54279	0.61;0.58;0.71;0.73;0.7;0.72;0.7;1.31;1.6	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.65386	0.2686	L	0.46157	1.445	0.80722	D	1	P;B;B;P	0.45176	0.631;0.13;0.008;0.852	P;B;B;P	0.55871	0.786;0.034;0.021;0.493	T	0.60840	-0.7183	10	0.49607	T	0.09	-15.1395	20.5948	0.99439	0.0:1.0:0.0:0.0	.	133;158;158;158	F8W6T6;Q04727-2;Q04727-3;Q04727	.;.;.;TLE4_HUMAN	L	158;158;158;172;172;158;133;156;143;28	ENSP00000365735:P158L;ENSP00000365727:P158L;ENSP00000365703:P158L;ENSP00000415423:P172L;ENSP00000365720:P158L;ENSP00000265284:P133L;ENSP00000412567:P156L;ENSP00000409313:P143L;ENSP00000417844:P28L	ENSP00000265284:P133L	P	+	2	0	TLE4	81457410	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.155000	0.77445	2.873000	0.98535	0.563000	0.77884	CCT		0.537	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237	
CTSL	1514	broad.mit.edu	37	9	90343648	90343648	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:90343648T>C	ENST00000343150.5	+	5	1435	c.545T>C	c.(544-546)cTa>cCa	p.L182P	CTSL_ENST00000342020.5_Missense_Mutation_p.L182P|CTSL_ENST00000340342.6_Missense_Mutation_p.L182P|CTSL_ENST00000495822.1_3'UTR			P07711	CATL1_HUMAN	cathepsin L	182					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage apoptotic process (GO:0071888)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|nucleus (GO:0005634)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|histone binding (GO:0042393)|proteoglycan binding (GO:0043394)	p.L182P(1)									AATGGTGGCCTAATGGATTAT	0.488																																					p.L182P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T545C	9						.						121.0	112.0	115.0					9																	90343648		2203	4300	6503	89533468	SO:0001583	missense	1514	exon5			X12451	CCDS6675.1	9q21.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000135047	ENSG00000135047	3.4.22.15	"""Cathepsins"""	2537	protein-coding gene	gene with protein product		116880	"""cathepsin L1"""	CTSL1		8419312, 2835398	Standard	NM_145918		Approved	FLJ31037	uc004apk.4	P07711	OTTHUMG00000020149	ENST00000343150.5:c.545T>C	9.37:g.90343648T>C	ENSP00000345344:p.Leu182Pro		89533468	NM_145918	Q6IAV1|Q96QJ0	Missense_Mutation	SNP	ENST00000343150.5	37	CCDS6675.1	.	.	.	.	.	.	.	.	.	.	T	14.92	2.680153	0.47886	.	.	ENSG00000135047	ENST00000343150;ENST00000340342;ENST00000342020	T;T;T	0.25250	1.81;1.81;1.81	4.51	0.503	0.16940	Peptidase C1A, papain C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.54382	0.1855	M	0.93763	3.455	0.48571	D	0.999671	D	0.89917	1.0	D	0.87578	0.998	T	0.55302	-0.8162	10	0.87932	D	0	.	7.6658	0.28430	0.1298:0.0:0.2707:0.5995	.	182	P07711	CATL1_HUMAN	P	182	ENSP00000345344:L182P;ENSP00000365061:L182P;ENSP00000340470:L182P	ENSP00000365061:L182P	L	+	2	0	CTSL1	89533468	0.931000	0.31567	0.000000	0.03702	0.044000	0.14063	2.652000	0.46682	-0.080000	0.12685	-0.313000	0.08912	CTA		0.488	CTSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052936.1	NM_001912	
CDK20	23552	broad.mit.edu	37	9	90584159	90584159	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:90584159G>A	ENST00000325303.8	-	7	1098	c.793C>T	c.(793-795)Ctg>Ttg	p.L265L	CDK20_ENST00000336654.5_Silent_p.L257L|CDK20_ENST00000375883.3_Silent_p.L244L|CDK20_ENST00000375871.4_Silent_p.C202C|CDK20_ENST00000605159.1_Silent_p.L244L	NM_001039803.2	NP_001034892.1	Q8IZL9	CDK20_HUMAN	cyclin-dependent kinase 20	265	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cell division (GO:0051301)|multicellular organismal development (GO:0007275)	cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.L265L(1)		skin(1)	1						AATTGACCCAGCAGATCCAAT	0.592																																					p.C202C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C606T	9						.						206.0	185.0	192.0					9																	90584159		2203	4300	6503	89773979	SO:0001819	synonymous_variant	23552	exon5			AF035013	CCDS6677.1, CCDS6678.1, CCDS35060.1, CCDS55324.1, CCDS65075.1	9q22.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000156345	ENSG00000156345		"""Cyclin-dependent kinases"""	21420	protein-coding gene	gene with protein product		610076	"""cell cycle related kinase"""	CCRK		19884882	Standard	NM_178432		Approved	p42	uc004apr.3	Q8IZL9	OTTHUMG00000020161	ENST00000325303.8:c.793C>T	9.37:g.90584159G>A			89773979	NM_001170640	A2A389|A2A390|B4DQX1|O95137|Q5EDC4|Q5VYW1|Q9BUF4	Silent	SNP	ENST00000325303.8	37	CCDS35060.1																																																																																				0.592	CDK20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214996.1	NM_012119	
CDK20	23552	broad.mit.edu	37	9	90586164	90586164	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:90586164C>T	ENST00000325303.8	-	3	581	c.276G>A	c.(274-276)gtG>gtA	p.V92V	CDK20_ENST00000336654.5_Silent_p.V105V|CDK20_ENST00000375883.3_Silent_p.V92V|CDK20_ENST00000375871.4_Silent_p.V92V|CDK20_ENST00000605159.1_Silent_p.V92V	NM_001039803.2	NP_001034892.1	Q8IZL9	CDK20_HUMAN	cyclin-dependent kinase 20	92	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cell division (GO:0051301)|multicellular organismal development (GO:0007275)	cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.V92V(1)		skin(1)	1						GGGCATGGCGCACCACCTCGG	0.582																																					p.V92V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G276A	9						.						106.0	74.0	85.0					9																	90586164		2203	4300	6503	89775984	SO:0001819	synonymous_variant	23552	exon3			AF035013	CCDS6677.1, CCDS6678.1, CCDS35060.1, CCDS55324.1, CCDS65075.1	9q22.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000156345	ENSG00000156345		"""Cyclin-dependent kinases"""	21420	protein-coding gene	gene with protein product		610076	"""cell cycle related kinase"""	CCRK		19884882	Standard	NM_178432		Approved	p42	uc004apr.3	Q8IZL9	OTTHUMG00000020161	ENST00000325303.8:c.276G>A	9.37:g.90586164C>T			89775984	NM_001170640	A2A389|A2A390|B4DQX1|O95137|Q5EDC4|Q5VYW1|Q9BUF4	Silent	SNP	ENST00000325303.8	37	CCDS35060.1																																																																																				0.582	CDK20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214996.1	NM_012119	
SHC3	53358	broad.mit.edu	37	9	91653178	91653178	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:91653178G>A	ENST00000375835.4	-	11	1692	c.1386C>T	c.(1384-1386)aaC>aaT	p.N462N	SHC3_ENST00000375830.1_Silent_p.N10N|SHC3_ENST00000375831.1_Silent_p.N10N	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	462	CH1.				central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|insulin receptor signaling pathway (GO:0008286)|learning or memory (GO:0007611)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	signal transducer activity (GO:0004871)	p.N462N(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						CCAAGGGCTGGTTCTTGAGAG	0.458																																					p.N462N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1386T	9						.						65.0	69.0	68.0					9																	91653178		2203	4300	6503	90842998	SO:0001819	synonymous_variant	53358	exon11			D84361	CCDS6681.1	9q22.1	2013-02-14	2005-05-24		ENSG00000148082	ENSG00000148082		"""SH2 domain containing"""	18181	protein-coding gene	gene with protein product		605263	"""src homology 2 domain containing transforming protein C3"""			8808684	Standard	NM_016848		Approved	N-Shc, NSHC, SHCC	uc004aqf.2	Q92529	OTTHUMG00000020179	ENST00000375835.4:c.1386C>T	9.37:g.91653178G>A			90842998	NM_016848	Q5T7I7|Q8TAP2|Q9UCX5	Silent	SNP	ENST00000375835.4	37	CCDS6681.1																																																																																				0.458	SHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052986.1	NM_016848	
NOL8	55035	broad.mit.edu	37	9	95081633	95081633	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:95081633G>A	ENST00000535387.1	-	4	286	c.287C>T	c.(286-288)gCc>gTc	p.A96V	NOL8_ENST00000442668.2_Missense_Mutation_p.A96V|NOL8_ENST00000545558.1_Missense_Mutation_p.A96V|NOL8_ENST00000542053.1_Missense_Mutation_p.A28V|NOL8_ENST00000358855.4_Missense_Mutation_p.A28V|NOL8_ENST00000543985.1_5'Flank					nucleolar protein 8									p.A96V(2)		endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TCTCTCTTGGGCCAATCTGAA	0.358																																					p.A96V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C287T	9						.						146.0	122.0	130.0					9																	95081633		1865	4100	5965	94121454	SO:0001583	missense	55035	exon5			AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.287C>T	9.37:g.95081633G>A	ENSP00000441300:p.Ala96Val		94121454	NM_017948		Missense_Mutation	SNP	ENST00000535387.1	37	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856739	0.91433	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670;ENST00000433029;ENST00000421075;ENST00000411621;ENST00000535807;ENST00000536624;ENST00000542613	T;T;T;T;T;T;T;T;T	0.52526	2.25;2.04;2.25;2.46;2.04;1.97;0.66;0.7;1.36	5.39	5.39	0.77823	.	0.052814	0.85682	D	0.000000	T	0.61763	0.2373	L	0.49778	1.585	0.53688	D	0.999976	D	0.76494	0.999	P	0.58820	0.846	T	0.63808	-0.6553	10	0.87932	D	0	-4.8146	19.5226	0.95192	0.0:0.0:1.0:0.0	.	96	Q76FK4	NOL8_HUMAN	V	96;96;28;96;96;28;96;96;96;28;28;96;28	ENSP00000401177:A96V;ENSP00000351723:A28V;ENSP00000441140:A96V;ENSP00000441300:A96V;ENSP00000440709:A28V;ENSP00000414112:A96V;ENSP00000412471:A96V;ENSP00000390143:A96V;ENSP00000442037:A96V	ENSP00000351723:A28V	A	-	2	0	NOL8	94121454	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.442000	0.80503	2.699000	0.92147	0.650000	0.86243	GCC		0.358	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948	
PTCH1	5727	broad.mit.edu	37	9	98231241	98231241	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:98231241G>A	ENST00000331920.6	-	14	2341	c.2042C>T	c.(2041-2043)cCg>cTg	p.P681L	PTCH1_ENST00000375274.2_Missense_Mutation_p.P680L|PTCH1_ENST00000430669.2_Missense_Mutation_p.P615L|PTCH1_ENST00000437951.1_Missense_Mutation_p.P615L|PTCH1_ENST00000418258.1_Missense_Mutation_p.P530L|PTCH1_ENST00000429896.2_Missense_Mutation_p.P530L|PTCH1_ENST00000421141.1_Missense_Mutation_p.P530L	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	681					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|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 (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.P681L(3)|p.P680L(2)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CTCGGAGCGCGGCTCAGCGGT	0.622																																					p.P530L												PTCH1,skin,chest,Substitution - Missense,0 	.	5	Substitution - Missense(5)	large_intestine(4)|skin(1)	c.C1589T	9						.						145.0	135.0	138.0					9																	98231241		2203	4300	6503	97271062	SO:0001583	missense	5727	exon14			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.2042C>T	9.37:g.98231241G>A	ENSP00000332353:p.Pro681Leu		97271062	NM_001083605	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493302	0.84962	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000375275;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000375271	D;D;D;D;D;D;D;D	0.92099	-2.88;-2.85;-2.85;-2.85;-2.85;-2.85;-2.88;-2.97	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.96093	0.8727	M	0.79926	2.475	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;0.991	D;D;D;P	0.79108	0.992;0.95;0.992;0.876	D	0.96365	0.9269	10	0.62326	D	0.03	-19.4376	18.1325	0.89606	0.0:0.0:1.0:0.0	.	530;615;680;681	Q13635-4;Q13635-3;Q13635-2;Q13635	.;.;.;PTC1_HUMAN	L	681;615;530;530;117;615;530;680;346	ENSP00000332353:P681L;ENSP00000389744:P615L;ENSP00000399981:P530L;ENSP00000396135:P530L;ENSP00000410287:P615L;ENSP00000414823:P530L;ENSP00000364423:P680L;ENSP00000364420:P346L	ENSP00000332353:P681L	P	-	2	0	PTCH1	97271062	1.000000	0.71417	0.956000	0.39512	0.560000	0.35617	9.096000	0.94182	2.505000	0.84491	0.557000	0.71058	CCG		0.622	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264	
ZNF510	22869	broad.mit.edu	37	9	99522198	99522198	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:99522198C>A	ENST00000375231.1	-	6	1564	c.914G>T	c.(913-915)gGg>gTg	p.G305V	ZNF510_ENST00000223428.4_Missense_Mutation_p.G305V			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	305					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.G305V(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GTGTTTCTTCCCTGTGCCAGT	0.348																																					p.G305V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G914T	9						.						93.0	99.0	97.0					9																	99522198		2203	4300	6503	98562019	SO:0001583	missense	22869	exon6			AB023189	CCDS35074.1	9q22.33	2013-01-08			ENSG00000081386	ENSG00000081386		"""Zinc fingers, C2H2-type"", ""-"""	29161	protein-coding gene	gene with protein product						10231032	Standard	XM_005251807		Approved	KIAA0972	uc004awn.1	Q9Y2H8	OTTHUMG00000020303	ENST00000375231.1:c.914G>T	9.37:g.99522198C>A	ENSP00000364379:p.Gly305Val		98562019	NM_014930	Q5SZP5	Missense_Mutation	SNP	ENST00000375231.1	37	CCDS35074.1	.	.	.	.	.	.	.	.	.	.	c	11.93	1.785236	0.31593	.	.	ENSG00000081386	ENST00000375231;ENST00000223428	T;T	0.05786	3.39;3.39	3.57	-0.334	0.12666	.	.	.	.	.	T	0.20901	0.0503	M	0.91663	3.23	0.38560	D	0.949675	D	0.63880	0.993	P	0.56343	0.796	T	0.11372	-1.0590	9	0.87932	D	0	.	7.6657	0.28430	0.0:0.5997:0.0:0.4003	.	305	Q9Y2H8	ZN510_HUMAN	V	305	ENSP00000364379:G305V;ENSP00000223428:G305V	ENSP00000223428:G305V	G	-	2	0	ZNF510	98562019	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	0.360000	0.20250	-0.071000	0.12886	0.655000	0.94253	GGG		0.348	ZNF510-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053287.1	NM_014930	
SLC31A2	1318	broad.mit.edu	37	9	115920073	115920073	+	Splice_Site	DEL	G	G	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:115920073delG	ENST00000259392.3	+	2	206	c.73delG	c.(73-75)ggc>gc	p.G25fs		NM_001860.2	NP_001851.1	O15432	COPT2_HUMAN	solute carrier family 31 (copper transporter), member 2	25					cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|regulation of copper ion transmembrane transport (GO:1902311)	integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|recycling endosome (GO:0055037)	copper ion transmembrane transporter activity (GO:0005375)	p.G25fs*32(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	7					Carboplatin(DB00958)|Cisplatin(DB00515)	CAGTCCTGCTGGTAAGAATTG	0.463																																					p.G25fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.73delG	9						.						104.0	101.0	102.0					9																	115920073		1905	4120	6025	114959894	SO:0001630	splice_region_variant	1318	exon2				CCDS6788.1	9q32	2013-07-17	2013-07-17		ENSG00000136867	ENSG00000136867		"""Solute carriers"""	11017	protein-coding gene	gene with protein product	"""copper transporter 2"""	603088		COPT2		9207117	Standard	NM_001860		Approved	hCTR2, CTR2	uc004bgq.3	O15432	OTTHUMG00000021037	ENST00000259392.3:c.73+1G>-	9.37:g.115920073delG			114959894	NM_001860		Frame_Shift_Del	DEL	ENST00000259392.3	37	CCDS6788.1																																																																																				0.463	SLC31A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055509.2	NM_001860	Frame_Shift_Del
COL27A1	85301	broad.mit.edu	37	9	116984523	116984523	+	Frame_Shift_Del	DEL	C	C	-	rs200237175		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:116984523delC	ENST00000356083.3	+	14	2833	c.2442delC	c.(2440-2442)ggcfs	p.G814fs		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	814	Collagen-like 4.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.P816fs*10(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCCTGCCAGGCCCCCCTGGAG	0.622																																					p.G814fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2442delC	9						.						77.0	85.0	82.0					9																	116984523		2203	4300	6503	116024344	SO:0001589	frameshift_variant	85301	exon14			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.2442delC	9.37:g.116984523delC	ENSP00000348385:p.Gly814fs		116024344	NM_032888	Q66K43|Q96JF7	Frame_Shift_Del	DEL	ENST00000356083.3	37	CCDS6802.1																																																																																				0.622	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888	
GOLGA2	2801	broad.mit.edu	37	9	131019390	131019390	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:131019390delA	ENST00000421699.2	-	26	2977	c.2965delT	c.(2965-2967)tacfs	p.Y989fs	GOLGA2_ENST00000609374.1_Frame_Shift_Del_p.Y977fs|AL590708.1_ENST00000408370.1_RNA	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	989					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.Y977fs*9(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						TCAGCCCGGTAAAAAAAAGGA	0.562																																					p.Y989fs												.	.	2	Deletion - Frameshift(2)	ovary(1)|large_intestine(1)	c.2965delT	9						.						92.0	103.0	99.0					9																	131019390		2203	4300	6503	130059211	SO:0001589	frameshift_variant	2801	exon26			L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.2965delT	9.37:g.131019390delA	ENSP00000416097:p.Tyr989fs		130059211	NM_004486	Q6GRM9|Q9BRB0|Q9NYF9	Frame_Shift_Del	DEL	ENST00000421699.2	37	CCDS6896.2																																																																																				0.562	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486	
RABL6	55684	broad.mit.edu	37	9	139734218	139734218	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:139734218delC	ENST00000311502.7	+	13	2067	c.1831delC	c.(1831-1833)cccfs	p.P612fs	RABL6_ENST00000357466.2_Intron|RABL6_ENST00000371663.4_Frame_Shift_Del_p.P613fs|RABL6_ENST00000371675.3_Frame_Shift_Del_p.P497fs|RABL6_ENST00000432842.2_3'UTR			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	612					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.K614fs*9(1)									GCCGCCCCCACCCCCCAAGCT	0.652																																					p.P612fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1834delC	9						.						40.0	52.0	48.0					9																	139734218		1922	4109	6031	138854039	SO:0001589	frameshift_variant	55684	exon13			AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"""Rab-like protein 1"", ""partner of ARF"""	610615	"""chromosome 9 open reading frame 86"""	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.1831delC	9.37:g.139734218delC	ENSP00000311134:p.Pro612fs		138854039	NM_001173988	A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Frame_Shift_Del	DEL	ENST00000311502.7	37	CCDS48058.1																																																																																				0.652	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055141.4	NM_024718	
EHMT1	79813	broad.mit.edu	37	9	140708890	140708890	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chr9:140708890T>C	ENST00000460843.1	+	22	3215	c.3188T>C	c.(3187-3189)gTg>gCg	p.V1063A		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1063	Pre-SET. {ECO:0000255|PROSITE- ProRule:PRU00157}.				chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)	p.V1032A(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CAGTACTGCGTGTGCATCGAC	0.617																																					p.V1063A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3188C	9						.						82.0	76.0	78.0					9																	140708890		2203	4300	6503	139828711	SO:0001583	missense	79813	exon22			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.3188T>C	9.37:g.140708890T>C	ENSP00000417980:p.Val1063Ala		139828711	NM_024757	B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	37	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	T	11.41	1.629419	0.28978	.	.	ENSG00000181090	ENST00000371400;ENST00000460843	D	0.88741	-2.42	4.76	3.59	0.41128	Pre-SET zinc-binding sub-group (1);Pre-SET domain (2);	0.176303	0.49916	D	0.000139	T	0.80783	0.4689	N	0.05177	-0.1	0.41191	D	0.986302	P	0.39831	0.69	P	0.46320	0.512	T	0.77797	-0.2453	10	0.33141	T	0.24	.	11.41	0.49921	0.0:0.0:0.1518:0.8482	.	1063	Q9H9B1	EHMT1_HUMAN	A	1032;1063	ENSP00000417980:V1063A	ENSP00000360453:V1032A	V	+	2	0	EHMT1	139828711	0.983000	0.35010	0.783000	0.31826	0.338000	0.28826	2.581000	0.46077	0.635000	0.30488	0.379000	0.24179	GTG		0.617	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757	
PNMA3	29944	broad.mit.edu	37	X	152225443	152225444	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	-	-	-	G	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:152225443_152225444insG	ENST00000370264.4	+	1	57_58	c.31_32insG	c.(31-33)cggfs	p.R11fs	PNMA3_ENST00000370265.4_Frame_Shift_Ins_p.R11fs|PNMA3_ENST00000447306.1_Frame_Shift_Ins_p.R11fs			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	11					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.E13fs*22(1)|p.R11W(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					ggactggtgtcggggggaacac	0.569																																					p.R11fs												.	.	2	Substitution - Missense(1)|Insertion - Frameshift(1)	large_intestine(1)|lung(1)	c.31_32insG	X						.																																			151976100	SO:0001589	frameshift_variant	29944	exon2			AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"""Paraneoplastic Ma antigens"""	18742	protein-coding gene	gene with protein product	"""paraneoplastic cancer-testis-brain antigen"""	300675	"""paraneoplastic antigen MA3"""			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.37dupG	X.37:g.152225449_152225449dupG	ENSP00000359286:p.Arg11fs		151976099	NM_013364	D3DWT7|Q9H0A4	Frame_Shift_Ins	INS	ENST00000370264.4	37	CCDS35435.2																																																																																				0.569	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060946.2	NM_013364	
TCEAL4	79921	broad.mit.edu	37	X	102842110	102842110	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:102842110G>T	ENST00000472745.1	+	3	1059	c.507G>T	c.(505-507)aaG>aaT	p.K169N	TCEAL4_ENST00000372629.4_Missense_Mutation_p.K312N|TCEAL4_ENST00000415568.2_Missense_Mutation_p.K169N|TCEAL4_ENST00000494801.1_Missense_Mutation_p.K169N|TCEAL4_ENST00000468024.1_Missense_Mutation_p.K169N|TCEAL4_ENST00000472484.1_Missense_Mutation_p.K169N			Q96EI5	TCAL4_HUMAN	transcription elongation factor A (SII)-like 4	169					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.K312N(1)		endometrium(1)|kidney(1)|large_intestine(2)|skin(2)	6						AGGATGAGAAGAGAAAAAGCA	0.423																																					p.K169N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G507T	X						.						117.0	125.0	122.0					X																	102842110		2201	4298	6499	102728766	SO:0001583	missense	79921	exon3			AF314542	CCDS14510.2, CCDS76004.1	Xq22.2	2014-03-21			ENSG00000133142	ENSG00000133142			26121	protein-coding gene	gene with protein product						14702039, 16221301	Standard	XM_005262192		Approved	FLJ21174, WEX7	uc004ekn.3	Q96EI5	OTTHUMG00000022103	ENST00000472745.1:c.507G>T	X.37:g.102842110G>T	ENSP00000424314:p.Lys169Asn		102728766	NM_024863	Q8WY12|Q9H2H1|Q9H775	Missense_Mutation	SNP	ENST00000472745.1	37	CCDS14510.2	.	.	.	.	.	.	.	.	.	.	G	9.204	1.029283	0.19512	.	.	ENSG00000133142	ENST00000372629;ENST00000468024;ENST00000472484;ENST00000415568;ENST00000414064;ENST00000472745;ENST00000494801	T;T;T;T;T;T	0.09723	2.95;2.95;2.95;2.95;2.95;2.95	3.8	0.959	0.19624	.	1.239200	0.05776	N	0.607701	T	0.07548	0.0190	N	0.22421	0.69	0.09310	N	1	B	0.25007	0.116	B	0.24541	0.054	T	0.40059	-0.9583	10	0.51188	T	0.08	.	2.7255	0.05212	0.2555:0.0:0.5182:0.2263	.	169	Q96EI5	TCAL4_HUMAN	N	312;169;169;169;140;169;169	ENSP00000361712:K312N;ENSP00000421857:K169N;ENSP00000421156:K169N;ENSP00000415564:K169N;ENSP00000424314:K169N;ENSP00000427494:K169N	ENSP00000361712:K312N	K	+	3	2	TCEAL4	102728766	0.616000	0.27035	0.004000	0.12327	0.958000	0.62258	0.334000	0.19787	0.089000	0.17243	0.432000	0.28606	AAG		0.423	TCEAL4-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252339.2	NM_024863	
MORF4L2	9643	broad.mit.edu	37	X	102931129	102931129	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:102931129T>C	ENST00000441076.2	-	4	1131	c.827A>G	c.(826-828)tAc>tGc	p.Y276C	MORF4L2_ENST00000422154.2_Missense_Mutation_p.Y276C|MORF4L2_ENST00000423833.2_Missense_Mutation_p.Y276C|MORF4L2_ENST00000433176.2_Missense_Mutation_p.Y276C|MORF4L2_ENST00000492116.1_5'Flank|MORF4L2_ENST00000451301.1_Missense_Mutation_p.Y276C|MORF4L2_ENST00000360458.1_Missense_Mutation_p.Y276C	NM_001142419.1|NM_012286.2	NP_001135891.1|NP_036418.1	Q15014	MO4L2_HUMAN	mortality factor 4 like 2	276	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.				chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA repair (GO:0006281)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.Y276C(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						AGCCACTTTGTAATCACTGGC	0.423																																					p.Y276C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A827G	X						.						108.0	108.0	108.0					X																	102931129		2203	4300	6503	102817785	SO:0001583	missense	9643	exon5			AF100620	CCDS14512.1	Xq22	2010-11-24			ENSG00000123562	ENSG00000123562			16849	protein-coding gene	gene with protein product	"""MORF-related gene X"""	300409				9891081, 7584026	Standard	NM_012286		Approved	KIAA0026, MRGX	uc011msa.2	Q15014	OTTHUMG00000022104	ENST00000441076.2:c.827A>G	X.37:g.102931129T>C	ENSP00000391969:p.Tyr276Cys		102817785	NM_001142429	B3KP92|D3DXA5|Q567V0|Q8J026	Missense_Mutation	SNP	ENST00000441076.2	37	CCDS14512.1	.	.	.	.	.	.	.	.	.	.	T	16.05	3.013450	0.54468	.	.	ENSG00000123562	ENST00000360458;ENST00000372620;ENST00000433176;ENST00000422154;ENST00000451301;ENST00000372619;ENST00000441076;ENST00000423833	T;T;T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12;2.12;2.12	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.51483	0.1677	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60642	-0.7223	10	0.87932	D	0	-25.46	11.2245	0.48875	0.0:0.0:0.0:1.0	.	276	Q15014	MO4L2_HUMAN	C	276;158;276;276;276;258;276;276	ENSP00000353643:Y276C;ENSP00000361703:Y158C;ENSP00000415476:Y276C;ENSP00000394417:Y276C;ENSP00000410532:Y276C;ENSP00000391969:Y276C;ENSP00000416120:Y276C	ENSP00000353643:Y276C	Y	-	2	0	MORF4L2	102817785	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.312000	0.65792	2.015000	0.59207	0.486000	0.48141	TAC		0.423	MORF4L2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057732.1	NM_012286	
RNF128	79589	broad.mit.edu	37	X	106031159	106031159	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:106031159T>C	ENST00000255499.2	+	4	1066	c.816T>C	c.(814-816)ccT>ccC	p.P272P	RNF128_ENST00000324342.3_Silent_p.P246P	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	272					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P246P(1)|p.P272P(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						AAATTGGCCCTGATGGAGATA	0.333																																					p.P272P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T816C	X						.						201.0	165.0	177.0					X																	106031159		2201	4300	6501	105917815	SO:0001819	synonymous_variant	79589	exon4			AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.816T>C	X.37:g.106031159T>C			105917815	NM_194463	A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Silent	SNP	ENST00000255499.2	37	CCDS14521.1																																																																																				0.333	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057804.1	NM_024539	
TEX13B	56156	broad.mit.edu	37	X	107225129	107225129	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:107225129G>A	ENST00000302917.1	-	2	321	c.229C>T	c.(229-231)Cgc>Tgc	p.R77C		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	77								p.R77C(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						TGGGCAAAGCGCACACCCAAG	0.622																																					p.R77C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C229T	X						.						87.0	84.0	85.0					X																	107225129		2198	4300	6498	107111785	SO:0001583	missense	56156	exon2			AF285598	CCDS14534.1	Xq23	2008-02-05	2007-03-13		ENSG00000170925	ENSG00000170925			11736	protein-coding gene	gene with protein product		300313	"""testis expressed sequence 13B"""			11279525	Standard	NM_031273		Approved	TSGA5, TGC3B	uc004enn.1	Q9BXU2	OTTHUMG00000022174	ENST00000302917.1:c.229C>T	X.37:g.107225129G>A	ENSP00000303777:p.Arg77Cys		107111785	NM_031273	Q5JYF6	Missense_Mutation	SNP	ENST00000302917.1	37	CCDS14534.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.323254	0.41096	.	.	ENSG00000170925	ENST00000302917	.	.	.	3.05	2.18	0.27775	.	.	.	.	.	T	0.55784	0.1942	L	0.61036	1.89	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.38243	-0.9670	8	0.87932	D	0	.	5.2402	0.15467	0.1671:0.0:0.8329:0.0	.	77	Q9BXU2	TX13B_HUMAN	C	77	.	ENSP00000303777:R77C	R	-	1	0	TEX13B	107111785	0.007000	0.16637	0.004000	0.12327	0.050000	0.14768	1.120000	0.31271	0.673000	0.31224	0.462000	0.41574	CGC		0.622	TEX13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057857.1		
ZBTB33	10009	broad.mit.edu	37	X	119387317	119387317	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:119387317G>A	ENST00000326624.2	+	2	275	c.47G>A	c.(46-48)gGc>gAc	p.G16D	ZBTB33_ENST00000557385.1_Missense_Mutation_p.G16D	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	16	Interaction with NCOR1.|Self-association. {ECO:0000250}.				intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding (GO:0043565)	p.G16D(1)		breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						CAGTACTCTGGCAGTCTGCTG	0.438																																					p.G16D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G47A	X						.						127.0	118.0	121.0					X																	119387317		2203	4300	6503	119271345	SO:0001583	missense	10009	exon2			BC042753	CCDS14596.1	Xq23	2013-01-09			ENSG00000177485	ENSG00000177485		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16682	protein-coding gene	gene with protein product		300329					Standard	NM_001184742		Approved	ZNF-kaiso, kaiso, WUGSC:H_DJ525N14.1, KAISO, ZNF348	uc004esn.1	Q86T24	OTTHUMG00000171159	ENST00000326624.2:c.47G>A	X.37:g.119387317G>A	ENSP00000314153:p.Gly16Asp		119271345	NM_006777	B2R5U6|O00319|Q7Z361|Q8IVP6|Q8N3P0	Missense_Mutation	SNP	ENST00000326624.2	37	CCDS14596.1	.	.	.	.	.	.	.	.	.	.	G	0.484	-0.878550	0.02550	.	.	ENSG00000177485;ENSG00000177485;ENSG00000258974	ENST00000326624;ENST00000540105;ENST00000557385	T;T	0.21361	2.01;2.01	5.96	5.09	0.68999	BTB/POZ fold (2);	0.323813	0.36303	N	0.002679	T	0.12347	0.0300	N	0.16656	0.425	0.40021	D	0.975412	B	0.09022	0.002	B	0.12837	0.008	T	0.07290	-1.0780	10	0.02654	T	1	-2.3697	14.9564	0.71116	0.0:0.1428:0.8572:0.0	.	16	Q86T24	KAISO_HUMAN	D	16	ENSP00000314153:G16D;ENSP00000450969:G16D	ENSP00000314153:G16D	G	+	2	0	ZBTB33;AC002086.1	119271345	0.990000	0.36364	1.000000	0.80357	0.921000	0.55340	2.065000	0.41442	1.243000	0.43853	0.594000	0.82650	GGC		0.438	ZBTB33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058085.2	NM_006777	
GRIA3	2892	broad.mit.edu	37	X	122387364	122387364	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:122387364A>C	ENST00000371251.1	+	3	531	c.479A>C	c.(478-480)aAg>aCg	p.K160T	GRIA3_ENST00000371256.5_Missense_Mutation_p.K160T|GRIA3_ENST00000541091.1_Missense_Mutation_p.K144T|GRIA3_ENST00000264357.5_Missense_Mutation_p.K160T|GRIA3_ENST00000542149.1_Missense_Mutation_p.K160T|GRIA3_ENST00000479118.1_3'UTR			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	160					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)	p.K160T(2)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	AAGTGGGAGAAGTTTGTGTAC	0.478																																					p.K160T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A479C	X						.						89.0	78.0	82.0					X																	122387364		2203	4300	6503	122215045	SO:0001583	missense	2892	exon3			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.479A>C	X.37:g.122387364A>C	ENSP00000360297:p.Lys160Thr		122215045	NM_007325	D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	A	19.04	3.749963	0.69533	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78	5.43	5.43	0.79202	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.86012	0.5831	L	0.50333	1.59	0.80722	D	1	B;D;D	0.57899	0.365;0.981;0.976	P;D;D	0.72982	0.634;0.979;0.964	T	0.82307	-0.0522	10	0.06236	T	0.91	.	13.8022	0.63208	1.0:0.0:0.0:0.0	.	144;160;160	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	T	160;160;160;160;144	ENSP00000264357:K160T;ENSP00000446146:K160T;ENSP00000360302:K160T;ENSP00000360297:K160T;ENSP00000446440:K144T	ENSP00000264357:K160T	K	+	2	0	GRIA3	122215045	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.264000	0.72527	1.924000	0.55735	0.417000	0.27973	AAG		0.478	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828	
TENM1	10178	broad.mit.edu	37	X	123517997	123517997	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:123517997G>A	ENST00000371130.3	-	29	6826	c.6763C>T	c.(6763-6765)Cga>Tga	p.R2255*	TENM1_ENST00000422452.2_Nonsense_Mutation_p.R2262*|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2255					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R2257*(1)									GCGACACGTCGCCCAAGCCCA	0.453																																					p.R2255X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C6763T	X						.						85.0	82.0	83.0					X																	123517997		2203	4300	6503	123345678	SO:0001587	stop_gained	10178	exon29			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.6763C>T	X.37:g.123517997G>A	ENSP00000360171:p.Arg2255*		123345678	NM_014253	B2RTR5|Q5JZ17	Nonsense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	46	12.806693	0.99698	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7417	0.51796	0.0:0.0:0.6824:0.3176	.	.	.	.	X	2255;2262	.	ENSP00000360171:R2255X	R	-	1	2	ODZ1	123345678	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.650000	0.37292	2.356000	0.79943	0.600000	0.82982	CGA		0.453	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253	
DCAF12L2	340578	broad.mit.edu	37	X	125299020	125299020	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:125299020G>A	ENST00000360028.2	-	1	914	c.888C>T	c.(886-888)tcC>tcT	p.S296S	DCAF12L2_ENST00000538699.1_Silent_p.S296S			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	296								p.S296S(3)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						ACAGGAGCCTGGATAGTGTGC	0.607																																					p.S296S												.	.	3	Substitution - coding silent(3)	lung(2)|large_intestine(1)	c.C888T	X						.						90.0	94.0	92.0					X																	125299020		2203	4300	6503	125126701	SO:0001819	synonymous_variant	340578	exon1			AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.888C>T	X.37:g.125299020G>A			125126701	NM_001013628	B2RN42	Silent	SNP	ENST00000360028.2	37	CCDS43991.1																																																																																				0.607	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628	
OCRL	4952	broad.mit.edu	37	X	128721029	128721029	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:128721029A>G	ENST00000371113.4	+	20	2355	c.2190A>G	c.(2188-2190)agA>agG	p.R730R	OCRL_ENST00000357121.5_Silent_p.R722R	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	730	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.R730R(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						CCAGTGAGAGACCCCTTCAGG	0.443																																					p.R722R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2166G	X						.						173.0	168.0	170.0					X																	128721029		2203	4300	6503	128548710	SO:0001819	synonymous_variant	4952	exon19			U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.2190A>G	X.37:g.128721029A>G			128548710	NM_001587	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Silent	SNP	ENST00000371113.4	37	CCDS35393.1																																																																																				0.443	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276	
IL3RA	3563	broad.mit.edu	37	X	1464308	1464308	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:1464308A>G	ENST00000331035.4	+	3	513	c.164A>G	c.(163-165)gAc>gGc	p.D55G	IL3RA_ENST00000381469.2_Intron	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	55					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)	p.D55G(1)		lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TGTGTTAAAGACGCCGACTAT	0.348																																					p.D55G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A164G	X						.						276.0	257.0	264.0					X																	1464308		2200	4296	6496	1424308	SO:0001583	missense	3563	exon3			M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"""Pseudoautosomal regions / PAR1"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.164A>G	X.37:g.1464308A>G	ENSP00000327890:p.Asp55Gly		1424308	NM_002183	A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Missense_Mutation	SNP	ENST00000331035.4	37	CCDS14113.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.292923	0.00019	.	.	ENSG00000185291	ENST00000331035	T	0.31769	1.48	1.32	-2.64	0.06114	.	1.821080	0.04238	N	0.336409	T	0.09686	0.0238	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.12915	-1.0529	10	0.09338	T	0.73	-3.0594	1.9217	0.03309	0.5099:0.0:0.2283:0.2619	.	55	P26951	IL3RA_HUMAN	G	55	ENSP00000327890:D55G	ENSP00000327890:D55G	D	+	2	0	IL3RA	1424308	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.079000	0.03410	-1.031000	0.03308	-1.253000	0.01494	GAC		0.348	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3		
ARHGAP36	158763	broad.mit.edu	37	X	130215856	130215856	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:130215856G>A	ENST00000276211.5	+	2	562	c.217G>A	c.(217-219)Gcc>Acc	p.A73T	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.A61T|ARHGAP36_ENST00000370921.1_5'Flank	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	73					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.A73T(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CGAACTCGTGGCCAGACATTT	0.577																																					p.A73T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G217A	X						.						105.0	92.0	96.0					X																	130215856		2203	4300	6503	130043537	SO:0001583	missense	158763	exon2				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.217G>A	X.37:g.130215856G>A	ENSP00000276211:p.Ala73Thr		130043537	NM_144967	B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701245	0.68501	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000423277;ENST00000412432	T;T;T	0.11063	2.81;2.82;2.84	4.36	3.47	0.39725	.	0.138155	0.33732	N	0.004608	T	0.15825	0.0381	N	0.19112	0.55	0.80722	D	1	P;D;D	0.63880	0.939;0.969;0.993	P;P;D	0.70935	0.584;0.723;0.971	T	0.03008	-1.1083	10	0.49607	T	0.09	.	9.0752	0.36517	0.0:0.218:0.782:0.0	.	42;61;73	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	T	73;61;25;42	ENSP00000276211:A73T;ENSP00000359960:A61T;ENSP00000408515:A42T	ENSP00000276211:A73T	A	+	1	0	ARHGAP36	130043537	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.375000	0.59549	1.147000	0.42369	0.544000	0.68410	GCC		0.577	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967	
SLITRK4	139065	broad.mit.edu	37	X	142718315	142718315	+	Missense_Mutation	SNP	G	G	A	rs371255197		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:142718315G>A	ENST00000381779.4	-	2	835	c.610C>T	c.(610-612)Cgt>Tgt	p.R204C	SLITRK4_ENST00000356928.1_Missense_Mutation_p.R204C|SLITRK4_ENST00000338017.4_Missense_Mutation_p.R204C	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	204						integral component of membrane (GO:0016021)		p.R204C(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TCAACGACACGGCCAATGTGT	0.428																																					p.R204C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C610T	X						.	G	CYS/ARG,CYS/ARG,CYS/ARG	1,3834		0,1,1631,571	85.0	82.0	83.0		610,610,610	3.9	0.9	X		83	0,6728		0,0,2428,1872	no	missense,missense,missense	SLITRK4	NM_001184749.1,NM_001184750.1,NM_173078.3	180,180,180	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	probably-damaging,probably-damaging,probably-damaging	204/838,204/838,204/838	142718315	1,10562	2203	4300	6503	142545981	SO:0001583	missense	139065	exon2			BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.610C>T	X.37:g.142718315G>A	ENSP00000371198:p.Arg204Cys		142545981	NM_173078	Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.937426	0.34189	2.61E-4	0.0	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.53640	0.61;0.61;0.61	5.73	3.89	0.44902	.	0.000000	0.85682	D	0.000000	T	0.56673	0.2001	L	0.35793	1.09	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	T	0.56860	-0.7909	10	0.66056	D	0.02	-6.3467	12.9905	0.58616	0.0:0.0:0.7188:0.2812	.	204	Q8IW52	SLIK4_HUMAN	C	204	ENSP00000371198:R204C;ENSP00000349400:R204C;ENSP00000336627:R204C	ENSP00000336627:R204C	R	-	1	0	SLITRK4	142545981	0.993000	0.37304	0.882000	0.34594	0.551000	0.35334	2.086000	0.41643	0.528000	0.28580	0.597000	0.82753	CGT		0.428	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078	
MAGEA6	4105	broad.mit.edu	37	X	151869999	151869999	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:151869999T>G	ENST00000329342.5	+	3	914	c.689T>G	c.(688-690)gTg>gGg	p.V230G		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	230	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.V230G(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GTGTTAGAGGTGTTTGAGGGG	0.542																																					p.V230G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T689G	X						.						161.0	156.0	157.0					X																	151869999		2202	4300	6502	151620655	SO:0001583	missense	4105	exon3				CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.689T>G	X.37:g.151869999T>G	ENSP00000329199:p.Val230Gly		151620655	NM_005363	A8IF93|Q6NW44	Missense_Mutation	SNP	ENST00000329342.5	37	CCDS14708.1	.	.	.	.	.	.	.	.	.	.	t	10.25	1.298610	0.23650	.	.	ENSG00000197172	ENST00000329342;ENST00000457643	T;T	0.06449	3.3;3.3	0.605	0.605	0.17553	.	.	.	.	.	T	0.31263	0.0791	H	0.94183	3.505	0.09310	N	1	P	0.42871	0.792	D	0.66979	0.948	T	0.03483	-1.1032	8	0.87932	D	0	.	.	.	.	.	230	P43360	MAGA6_HUMAN	G	230	ENSP00000329199:V230G;ENSP00000401806:V230G	ENSP00000329199:V230G	V	+	2	0	MAGEA6	151620655	0.005000	0.15991	0.014000	0.15608	0.190000	0.23558	1.397000	0.34543	0.476000	0.27440	0.151000	0.16131	GTG		0.542	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363	
FIGF	2277	broad.mit.edu	37	X	15381328	15381328	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:15381328C>T	ENST00000297904.3	-	2	633	c.204G>A	c.(202-204)agG>agA	p.R68R		NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	68					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|induction of positive chemotaxis (GO:0050930)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell chemotaxis (GO:0060754)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor binding (GO:0005172)	p.R68R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					TGAGCCTCAGCCTGCATCTCC	0.473																																					p.R68R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G204A	X						.						138.0	110.0	120.0					X																	15381328		2203	4300	6503	15291249	SO:0001819	synonymous_variant	2277	exon2			AJ000185	CCDS14166.1	Xp22.31	2008-02-05			ENSG00000165197	ENSG00000165197			3708	protein-coding gene	gene with protein product		300091		VEGFD		9479493	Standard	NM_004469		Approved	VEGF-D	uc004cwt.2	O43915	OTTHUMG00000021175	ENST00000297904.3:c.204G>A	X.37:g.15381328C>T			15291249	NM_004469	B2R7Z3	Silent	SNP	ENST00000297904.3	37	CCDS14166.1																																																																																				0.473	FIGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055859.1	NM_004469	
PNMA5	114824	broad.mit.edu	37	X	152159253	152159253	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:152159253G>A	ENST00000439251.1	-	2	1328	c.890C>T	c.(889-891)gCc>gTc	p.A297V	PNMA5_ENST00000452693.1_Missense_Mutation_p.A297V|PNMA5_ENST00000535214.1_Missense_Mutation_p.A297V|PNMA5_ENST00000361887.5_Missense_Mutation_p.A297V	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	297					positive regulation of apoptotic process (GO:0043065)			p.A297V(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGGTCATGGCGACCCGAGC	0.557																																					p.A297V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C890T	X						.						34.0	36.0	36.0					X																	152159253		2202	4297	6499	151909909	SO:0001583	missense	114824	exon2			AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"""Paraneoplastic Ma antigens"""	18743	protein-coding gene	gene with protein product	"""paraneoplastic antigen family 5"""	300916	"""paraneoplastic antigen like 5"""			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.890C>T	X.37:g.152159253G>A	ENSP00000388850:p.Ala297Val		151909909	NM_001103150	B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP	ENST00000439251.1	37	CCDS14718.1	.	.	.	.	.	.	.	.	.	.	g	10.16	1.272731	0.23221	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.09723	2.95;2.95;2.95;2.95	3.07	-1.26	0.09376	.	.	.	.	.	T	0.05318	0.0141	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.42464	-0.9450	9	0.26408	T	0.33	-8.1867	5.7482	0.18132	0.0:0.1732:0.3098:0.5169	.	297	Q96PV4	PNMA5_HUMAN	V	297	ENSP00000354834:A297V;ENSP00000445775:A297V;ENSP00000388850:A297V;ENSP00000392342:A297V	ENSP00000354834:A297V	A	-	2	0	PNMA5	151909909	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	0.344000	0.19962	-0.431000	0.07307	0.287000	0.19450	GCC		0.557	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926	
MECP2	4204	broad.mit.edu	37	X	153296219	153296219	+	Missense_Mutation	SNP	G	G	A	rs267608384|rs267608378|rs267608562|rs143876280		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:153296219G>A	ENST00000303391.6	-	4	1309	c.1060C>T	c.(1060-1062)Cgc>Tgc	p.R354C	MECP2_ENST00000460227.1_5'Flank|MECP2_ENST00000453960.2_Missense_Mutation_p.R366C	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	354					adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)	p.R354C(1)		breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGCTGCTGCGCCCCTTGGGG	0.652																																					p.R354C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1060T	X						.	G	CYS/ARG,CYS/ARG	0,3833		0,0,1631,571	32.0	33.0	33.0		1096,1060	5.1	1.0	X	dbSNP_134	33	2,6723		0,2,2425,1871	no	missense,missense	MECP2	NM_001110792.1,NM_004992.3	180,180	0,2,4056,2442	AA,AG,GG,G		0.0297,0.0,0.0189	probably-damaging,probably-damaging	366/499,354/487	153296219	2,10556	2202	4298	6500	152949413	SO:0001583	missense	4204	exon4			AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"""mental retardation, X-linked 16"", ""mental retardation, X-linked 79"", ""Rett syndrome"", ""methyl CpG binding protein 2 (Rett syndrome)"""	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.1060C>T	X.37:g.153296219G>A	ENSP00000301948:p.Arg354Cys		152949413	NM_004992	O15233|Q6QHH9|Q7Z384	Missense_Mutation	SNP	ENST00000303391.6	37	CCDS14741.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138530	0.37728	0.0	2.97E-4	ENSG00000169057	ENST00000303391;ENST00000545451;ENST00000453960	D;D	0.90324	-2.65;-2.63	5.11	5.11	0.69529	.	0.330490	0.30219	N	0.010133	D	0.85673	0.5751	N	0.19112	0.55	0.80722	D	1	D;D	0.59767	0.986;0.975	P;B	0.47573	0.55;0.348	D	0.86984	0.2106	10	0.62326	D	0.03	-6.0471	11.5243	0.50571	0.0:0.0:0.821:0.179	.	366;354	P51608-2;P51608	.;MECP2_HUMAN	C	354;354;366	ENSP00000301948:R354C;ENSP00000395535:R366C	ENSP00000301948:R354C	R	-	1	0	MECP2	152949413	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.987000	0.40687	2.374000	0.81015	0.529000	0.55759	CGC		0.652	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	NM_004992	
DHRSX	207063	broad.mit.edu	37	X	2139238	2139238	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:2139238G>A	ENST00000334651.5	-	7	889	c.837C>T	c.(835-837)taC>taT	p.Y279Y		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	279							oxidoreductase activity (GO:0016491)	p.Y279Y(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGACTGCTGCGTAGATGGAAG	0.517													.|||	7	0.00139776	0.003	0.0	5008	,	,		21197	0.003		0.0	False		,,,				2504	0.0				p.Y279Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C837T	X						.	G		10,4396		0,10,2193	206.0	184.0	192.0		837	-4.3	0.0	X	dbSNP_134	192	0,8592		0,0,4296	no	coding-synonymous	DHRSX	NM_145177.2		0,10,6489	AA,AG,GG		0.0,0.227,0.0769		279/331	2139238	10,12988	2203	4296	6499	2149238	SO:0001819	synonymous_variant	207063	exon7			AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"""Pseudoautosomal regions / PAR1"""	18399	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 6"", ""short chain dehydrogenase/reductase family 46C, member 1"", ""dehydrogenase/reductase (SDR family) Y-linked"""		"""dehydrogenase/reductase (SDR family) X chromosome"""			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.837C>T	X.37:g.2139238G>A			2149238	NM_145177	Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Silent	SNP	ENST00000334651.5	37	CCDS35195.1																																																																																				0.517	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055617.3	NM_145177	
TBL1X	6907	broad.mit.edu	37	X	9659692	9659692	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:9659692delC	ENST00000217964.7	+	8	1330	c.690delC	c.(688-690)ggcfs	p.G230fs	TBL1X_ENST00000536365.1_Frame_Shift_Del_p.G179fs|TBL1X_ENST00000407597.2_Frame_Shift_Del_p.G230fs|TBL1X_ENST00000424279.1_Frame_Shift_Del_p.G179fs|TBL1X_ENST00000380961.1_Frame_Shift_Del_p.G179fs	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	230					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.H231fs*17(2)		breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				TCCTTCGGGGCCATGAGTCTG	0.522																																					p.G179fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.537delC	X						.						182.0	141.0	155.0					X																	9659692		2203	4300	6503	9619692	SO:0001589	frameshift_variant	6907	exon8			Y12781	CCDS14133.1, CCDS48078.1	Xp22.3	2013-01-10	2002-05-22	2002-05-24	ENSG00000101849	ENSG00000101849		"""WD repeat domain containing"""	11585	protein-coding gene	gene with protein product		300196	"""transducin (beta)-like 1"""	TBL1		10330347	Standard	NM_005647		Approved	EBI	uc004csr.3	O60907	OTTHUMG00000021117	ENST00000217964.7:c.690delC	X.37:g.9659692delC	ENSP00000217964:p.Gly230fs		9619692	NM_001139468	A8K044|A8K4J7|Q86UY2	Frame_Shift_Del	DEL	ENST00000217964.7	37	CCDS14133.1																																																																																				0.522	TBL1X-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055709.1	NM_005647	
GRPR	2925	broad.mit.edu	37	X	16168676	16168676	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:16168676T>A	ENST00000380289.2	+	2	1060	c.662T>A	c.(661-663)aTt>aAt	p.I221N	RP11-431J24.2_ENST00000422438.1_RNA|RP11-431J24.2_ENST00000454712.2_RNA|RP11-431J24.2_ENST00000435789.1_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	221					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)	p.I221N(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					TTCTACGTCATTCCACTGTCG	0.438																																					p.I221N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T662A	X						.						193.0	146.0	162.0					X																	16168676		2203	4300	6503	16078597	SO:0001583	missense	2925	exon2				CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"""GPCR / Class A : Bombesin receptors"""	4609	protein-coding gene	gene with protein product	"""bombesin receptor 2"""	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.662T>A	X.37:g.16168676T>A	ENSP00000369643:p.Ile221Asn		16078597	NM_005314	B2R910	Missense_Mutation	SNP	ENST00000380289.2	37	CCDS14174.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.178729	0.78564	.	.	ENSG00000126010	ENST00000380289;ENST00000535371	T	0.44083	0.93	5.63	5.63	0.86233	GPCR, rhodopsin-like superfamily (1);	0.051259	0.85682	D	0.000000	T	0.71921	0.3397	M	0.93462	3.42	0.58432	D	0.999999	D	0.63046	0.992	D	0.69142	0.962	T	0.79969	-0.1579	10	0.72032	D	0.01	-26.8841	13.8962	0.63773	0.0:0.0:0.0:1.0	.	221	P30550	GRPR_HUMAN	N	221;10	ENSP00000369643:I221N	ENSP00000369643:I221N	I	+	2	0	GRPR	16078597	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.698000	0.84413	1.878000	0.54408	0.486000	0.48141	ATT		0.438	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	NM_005314	
PDHA1	5160	broad.mit.edu	37	X	19373600	19373600	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:19373600G>A	ENST00000422285.2	+	7	842	c.737G>A	c.(736-738)gGc>gAc	p.G246D	PDHA1_ENST00000540249.1_Missense_Mutation_p.G215D|PDHA1_ENST00000545074.1_Missense_Mutation_p.G253D|PDHA1_ENST00000379806.5_Missense_Mutation_p.G284D|PDHA1_ENST00000379804.1_5'Flank			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	246					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)	p.G246D(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					TACAAGAGAGGCGATTTCATT	0.507																																					p.G284D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G851A	X						.						101.0	101.0	101.0					X																	19373600		2203	4300	6503	19283521	SO:0001583	missense	5160	exon8				CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.737G>A	X.37:g.19373600G>A	ENSP00000394382:p.Gly246Asp		19283521	NM_001173454	A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Missense_Mutation	SNP	ENST00000422285.2	37	CCDS14192.1	.	.	.	.	.	.	.	.	.	.	G	34	5.323524	0.95708	.	.	ENSG00000131828	ENST00000379806;ENST00000545074;ENST00000540249;ENST00000422285	D;D;D;D	0.97598	-4.45;-4.45;-4.45;-4.45	5.64	5.64	0.86602	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.99275	0.9747	H	0.99169	4.455	0.80722	D	1	D;D;D;D;D	0.89917	0.993;0.999;0.999;1.0;0.999	D;D;D;D;D	0.97110	0.992;0.999;1.0;1.0;1.0	D	0.98559	1.0640	10	0.87932	D	0	-14.6477	18.9649	0.92692	0.0:0.0:1.0:0.0	.	215;253;246;284;246	B7Z3X5;B7Z3T7;B2R5P7;A5YVE9;P08559	.;.;.;.;ODPA_HUMAN	D	284;253;215;246	ENSP00000369134:G284D;ENSP00000438550:G253D;ENSP00000440761:G215D;ENSP00000394382:G246D	ENSP00000369134:G284D	G	+	2	0	PDHA1	19283521	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.420000	0.97426	2.513000	0.84729	0.594000	0.82650	GGC		0.507	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055977.1		
CNKSR2	22866	broad.mit.edu	37	X	21534629	21534629	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:21534629G>A	ENST00000379510.3	+	9	873	c.837G>A	c.(835-837)gtG>gtA	p.V279V	CNKSR2_ENST00000543067.1_Intron|CNKSR2_ENST00000279451.4_Silent_p.V279V|CNKSR2_ENST00000425654.2_Silent_p.V279V	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	279	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.V279V(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AAAATTTGGTGAATGCACTAC	0.393																																					p.V279V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G837A	X						.						119.0	110.0	113.0					X																	21534629		2203	4300	6503	21444550	SO:0001819	synonymous_variant	22866	exon9			AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.837G>A	X.37:g.21534629G>A			21444550	NM_001168647	B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Silent	SNP	ENST00000379510.3	37	CCDS14198.1																																																																																				0.393	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927	
MBTPS2	51360	broad.mit.edu	37	X	21863435	21863435	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:21863435C>G	ENST00000379484.5	+	3	470	c.371C>G	c.(370-372)tCt>tGt	p.S124C	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Missense_Mutation_p.S124C	NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	124	Poly-Ser.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.S124C(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						tcctcctcttcttcctcttcc	0.418																																					p.S124C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C371G	X						.						118.0	95.0	103.0					X																	21863435		2203	4300	6503	21773356	SO:0001583	missense	404281	exon3			AF019612	CCDS14201.1	Xp22.12-p22.11	2014-02-03	2005-08-17		ENSG00000012174	ENSG00000012174			15455	protein-coding gene	gene with protein product		300294	"""membrane-bound transcription factor protease, site 2"", ""keratosis follicularis spinulosa decalvans"""	KFSD		9847074, 9659902, 20672378	Standard	NM_015884		Approved	S2P	uc004dae.3	O43462	OTTHUMG00000021237	ENST00000379484.5:c.371C>G	X.37:g.21863435C>G	ENSP00000368798:p.Ser124Cys		21773356	NM_015884	Q9UM70|Q9UMD3	Missense_Mutation	SNP	ENST00000379484.5	37	CCDS14201.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.612070	0.28712	.	.	ENSG00000012174	ENST00000379484;ENST00000365779	D;D	0.93953	-3.32;-2.17	3.67	3.67	0.42095	.	0.403314	0.23964	N	0.042826	D	0.90827	0.7119	N	0.08118	0	0.09310	N	1	D;P;P	0.76494	0.999;0.88;0.88	D;D;P	0.77557	0.99;0.923;0.7	T	0.82635	-0.0360	10	0.38643	T	0.18	-2.2178	9.9992	0.41918	0.0:1.0:0.0:0.0	.	124;124;124	A8KA68;O43462;B9ZVQ3	.;MBTP2_HUMAN;.	C	124	ENSP00000368798:S124C;ENSP00000368796:S124C	ENSP00000368796:S124C	S	+	2	0	MBTPS2	21773356	0.117000	0.22190	0.048000	0.18961	0.134000	0.20937	2.506000	0.45433	2.111000	0.64477	0.499000	0.49734	TCT		0.418	MBTPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056026.1		
ACOT9	23597	broad.mit.edu	37	X	23722860	23722860	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:23722860C>T	ENST00000336430.7	-	14	1313	c.1182G>A	c.(1180-1182)acG>acA	p.T394T	ACOT9_ENST00000379295.1_Silent_p.T334T|ACOT9_ENST00000379303.5_Silent_p.T403T	NM_001033583.2	NP_001028755.2	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	394					acyl-CoA metabolic process (GO:0006637)	mitochondrion (GO:0005739)	acetyl-CoA hydrolase activity (GO:0003986)|carboxylic ester hydrolase activity (GO:0052689)	p.T394T(1)		breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						CCGACATGAACGTGAAATGAA	0.403																																					p.T403T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1209A	X						.						191.0	181.0	185.0					X																	23722860		2203	4300	6503	23632781	SO:0001819	synonymous_variant	23597	exon15			AF132950	CCDS35216.1, CCDS43924.1	Xp22.11	2008-02-05			ENSG00000123130	ENSG00000123130		"""Acyl CoA thioesterases"""	17152	protein-coding gene	gene with protein product		300862				10383425, 10810093, 16103133, 16940157	Standard	XM_005274471		Approved	CGI-16, MT-ACT48, ACATE2	uc004dao.3	Q9Y305	OTTHUMG00000021257	ENST00000336430.7:c.1182G>A	X.37:g.23722860C>T			23632781	NM_001037171	B3KNC9|B7ZM94	Silent	SNP	ENST00000336430.7	37	CCDS35216.1																																																																																				0.403	ACOT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056065.1	NM_012332	
FAM47C	442444	broad.mit.edu	37	X	37028306	37028306	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:37028306C>T	ENST00000358047.3	+	1	1875	c.1823C>T	c.(1822-1824)cCg>cTg	p.P608L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	608								p.P608L(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CATCTCTGCCCGGAGCCTCCA	0.637																																					p.P608L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1823T	X						.						18.0	21.0	20.0					X																	37028306		2178	4260	6438	36938227	SO:0001583	missense	442444	exon1			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1823C>T	X.37:g.37028306C>T	ENSP00000367913:p.Pro608Leu		36938227	NM_001013736	Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	0.089	-1.169676	0.01660	.	.	ENSG00000198173	ENST00000358047	T	0.13901	2.55	0.705	-1.41	0.08941	.	.	.	.	.	T	0.09992	0.0245	L	0.46157	1.445	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.40459	-0.9562	9	0.41790	T	0.15	.	1.0293	0.01534	0.4812:0.1894:0.1633:0.1661	.	608	Q5HY64	FA47C_HUMAN	L	608	ENSP00000367913:P608L	ENSP00000367913:P608L	P	+	2	0	FAM47C	36938227	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.060000	0.11712	-4.651000	0.00038	-4.247000	0.00008	CCG		0.637	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736	
MED14	9282	broad.mit.edu	37	X	40518832	40518832	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:40518832C>T	ENST00000324817.1	-	27	3830	c.3712G>A	c.(3712-3714)Gga>Aga	p.G1238R		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1238					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.G1238R(1)		NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGATCACTCCGGGTTCATTA	0.388																																					p.G1238R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3712A	X						.						139.0	122.0	128.0					X																	40518832		2203	4300	6503	40403776	SO:0001583	missense	9282	exon27			AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.3712G>A	X.37:g.40518832C>T	ENSP00000323720:p.Gly1238Arg		40403776	NM_004229	Q4KMR7|Q9UNB3	Missense_Mutation	SNP	ENST00000324817.1	37	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668767	0.88348	.	.	ENSG00000180182	ENST00000324817;ENST00000433003	T;T	0.58060	0.36;0.36	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.71685	0.3369	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.74500	-0.3645	10	0.87932	D	0	.	18.492	0.90851	0.0:1.0:0.0:0.0	.	1238;1238	A8KAK5;O60244	.;MED14_HUMAN	R	1238;137	ENSP00000323720:G1238R;ENSP00000411357:G137R	ENSP00000323720:G1238R	G	-	1	0	MED14	40403776	1.000000	0.71417	0.980000	0.43619	0.860000	0.49131	7.294000	0.78760	2.309000	0.77851	0.600000	0.82982	GGA		0.388	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229	
USP9X	8239	broad.mit.edu	37	X	41089035	41089035	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:41089035delA	ENST00000324545.8	+	43	8067	c.7434delA	c.(7432-7434)gtafs	p.V2478fs	USP9X_ENST00000378308.2_Intron	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2478					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.?(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CAGAGGAGGTAAAAAAAGCCA	0.368																																					p.V2478fs	Ovarian(172;1807 2695 35459 49286)											.	.	2	Unknown(2)	large_intestine(2)	c.7434delA	X						.		,	1,3716		0,1,0,1589,537	70.0	71.0	71.0		,	4.1	1.0	X		72	5,6479		0,4,1,2353,1769	no	intron,frameshift	USP9X	NM_001039591.2,NM_001039590.2	,	0,5,1,3942,2306	A1A1,A1R,A1,RR,R		0.0771,0.0269,0.0588	,	,	41089035	6,10195	2202	4300	6502	40973979	SO:0001589	frameshift_variant	8239	exon43			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.7434delA	X.37:g.41089035delA	ENSP00000316357:p.Val2478fs		40973979	NM_001039590	O75550|Q8WWT3|Q8WX12	Frame_Shift_Del	DEL	ENST00000324545.8	37	CCDS43930.1																																																																																				0.368	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652	
USP11	8237	broad.mit.edu	37	X	47102831	47102831	+	Silent	SNP	C	C	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:47102831C>A	ENST00000218348.3	+	13	1749	c.1749C>A	c.(1747-1749)ggC>ggA	p.G583G	USP11_ENST00000377107.2_Silent_p.G540G	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	583	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.G583G(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CCATTGAGGGCTCAAGAGAGG	0.607																																					p.G583G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1749A	X						.						132.0	82.0	99.0					X																	47102831		2203	4300	6503	46987775	SO:0001819	synonymous_variant	8237	exon13			U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.1749C>A	X.37:g.47102831C>A			46987775	NM_004651	B2RTX1|Q8IUG6|Q9BWE1	Silent	SNP	ENST00000218348.3	37	CCDS14277.1																																																																																				0.607	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651	
ARAF	369	broad.mit.edu	37	X	47426094	47426094	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:47426094delC	ENST00000377045.4	+	7	808	c.614delC	c.(613-615)gccfs	p.A205fs	ARAF_ENST00000290277.6_Intron	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	A-Raf proto-oncogene, serine/threonine kinase	205					cellular protein modification process (GO:0006464)|negative regulation of apoptotic process (GO:0043066)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)	p.L207fs*85(1)		biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	CCAGCCAATGCCCCCCTACAG	0.632																																					p.A205fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.614delC	X						.						49.0	39.0	43.0					X																	47426094		2203	4300	6503	47311038	SO:0001589	frameshift_variant	369	exon7			X04790	CCDS35232.1, CCDS59164.1, CCDS75970.1	Xp11.3-p11.23	2014-06-26	2014-06-26	2005-01-19	ENSG00000078061	ENSG00000078061			646	protein-coding gene	gene with protein product		311010	"""v-raf murine sarcoma 3611 viral oncogene homolog 1"""	ARAF1			Standard	NM_001654		Approved		uc004dic.2	P10398	OTTHUMG00000021446	ENST00000377045.4:c.614delC	X.37:g.47426094delC	ENSP00000366244:p.Ala205fs		47311038	NM_001654	P07557|Q5H9B2|Q5H9B3	Frame_Shift_Del	DEL	ENST00000377045.4	37	CCDS35232.1																																																																																				0.632	ARAF-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056418.1		
SYN1	6853	broad.mit.edu	37	X	47435934	47435934	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:47435934G>A	ENST00000295987.7	-	7	1067	c.943C>T	c.(943-945)Cgt>Tgt	p.R315C	SYN1_ENST00000340666.4_Missense_Mutation_p.R315C	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN	synapsin I	315	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion (GO:0007269)|regulation of neurotransmitter secretion (GO:0046928)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)	p.R315C(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						TTCTGGACACGCACGTCATAT	0.562																																					p.R315C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C943T	X						.						188.0	134.0	152.0					X																	47435934		2203	4300	6503	47320878	SO:0001583	missense	6853	exon7				CCDS14280.1, CCDS35233.1	Xp11.2	2012-10-02			ENSG00000008056	ENSG00000008056			11494	protein-coding gene	gene with protein product		313440					Standard	NM_133499		Approved		uc004die.3	P17600	OTTHUMG00000021454	ENST00000295987.7:c.943C>T	X.37:g.47435934G>A	ENSP00000295987:p.Arg315Cys		47320878	NM_133499	B1AJQ1|O75825|Q5H9A9	Missense_Mutation	SNP	ENST00000295987.7	37	CCDS14280.1	.	.	.	.	.	.	.	.	.	.	g	12.26	1.886054	0.33348	.	.	ENSG00000008056	ENST00000295987;ENST00000340666	T;T	0.54279	1.1;0.58	4.18	4.18	0.49190	ATP-grasp fold, subdomain 2 (1);Synapsin, ATP-binding domain (1);	0.000000	0.64402	D	0.000004	T	0.75982	0.3924	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.81741	-0.0794	10	0.87932	D	0	-6.576	13.0111	0.58731	0.0:0.0:1.0:0.0	.	315;315	P17600;P17600-2	SYN1_HUMAN;.	C	315	ENSP00000295987:R315C;ENSP00000343206:R315C	ENSP00000295987:R315C	R	-	1	0	SYN1	47320878	1.000000	0.71417	0.967000	0.41034	0.024000	0.10985	2.652000	0.46682	1.921000	0.55644	0.597000	0.82753	CGT		0.562	SYN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056445.1	NM_006950	
TBC1D25	4943	broad.mit.edu	37	X	48419242	48419242	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:48419242G>A	ENST00000376771.4	+	6	2287	c.1946G>A	c.(1945-1947)cGc>cAc	p.R649H	snoU13_ENST00000459609.1_RNA|TBC1D25_ENST00000537536.1_Missense_Mutation_p.R395H	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	649					autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)	p.R649H(1)		large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						CACTTTGACCGCCTTGTGCGA	0.597																																					p.R649H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1946A	X						.						58.0	51.0	53.0					X																	48419242		2203	4300	6503	48304186	SO:0001583	missense	4943	exon6			L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.1946G>A	X.37:g.48419242G>A	ENSP00000365962:p.Arg649His		48304186	NM_002536	Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	ENST00000376771.4	37	CCDS35242.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.194217	0.38707	.	.	ENSG00000068354	ENST00000376771;ENST00000537536	T;T	0.22336	1.96;1.96	5.18	4.31	0.51392	Rab-GAP/TBC domain (1);	0.625852	0.15826	N	0.242746	T	0.40767	0.1130	L	0.59436	1.845	0.40572	D	0.981311	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.65987	0.94;0.94;0.94	T	0.23440	-1.0188	10	0.87932	D	0	-13.0724	12.5512	0.56227	0.0:0.1645:0.8355:0.0	.	653;591;649	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	H	649;395	ENSP00000365962:R649H;ENSP00000444091:R395H	ENSP00000365962:R649H	R	+	2	0	TBC1D25	48304186	1.000000	0.71417	0.996000	0.52242	0.232000	0.25224	9.137000	0.94496	0.962000	0.38057	-0.343000	0.07986	CGC		0.597	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	NM_002536	
OTUD5	55593	broad.mit.edu	37	X	48792074	48792074	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:48792074G>A	ENST00000156084.4	-	4	880	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W	OTUD5_ENST00000484499.1_5'UTR|OTUD5_ENST00000428668.2_Missense_Mutation_p.R57W|OTUD5_ENST00000376488.3_Missense_Mutation_p.R274W|OTUD5_ENST00000396743.3_Missense_Mutation_p.R274W	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU deubiquitinase 5	274	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|Variable-loop. {ECO:0000250}.				innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)	ubiquitin-specific protease activity (GO:0004843)	p.R250W(2)|p.R274W(2)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						TTGTTTTTCCGCTTCCTGTTA	0.473																																					p.R274W												.	.	4	Substitution - Missense(4)	large_intestine(2)|endometrium(2)	c.C820T	X						.						234.0	190.0	205.0					X																	48792074		2203	4300	6503	48677018	SO:0001583	missense	55593	exon4				CCDS14313.1, CCDS48104.1, CCDS48105.1	Xp11.23	2014-06-09	2014-02-24		ENSG00000068308	ENSG00000068308		"""OTU domain containing"""	25402	protein-coding gene	gene with protein product		300713	"""OTU domain containing 5"""			24143256	Standard	NM_001136157		Approved	DKFZp761A052, DUBA	uc004dlu.3	Q96G74	OTTHUMG00000024130	ENST00000156084.4:c.820C>T	X.37:g.48792074G>A	ENSP00000156084:p.Arg274Trp		48677018	NM_001136157	B4DGG7|G5E9D7|Q4KMN9|Q8N6T5|Q9H650|Q9H9U0|Q9NT65	Missense_Mutation	SNP	ENST00000156084.4	37	CCDS14313.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.491536	0.64074	.	.	ENSG00000068308	ENST00000396743;ENST00000453548;ENST00000455452;ENST00000156084;ENST00000376488;ENST00000428668	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	5.52	2.22	0.28083	Ovarian tumour, otubain (2);	0.000000	0.64402	D	0.000001	T	0.75148	0.3810	M	0.94142	3.5	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.993;1.0;1.0	T	0.81913	-0.0715	10	0.87932	D	0	-10.7499	13.5204	0.61563	0.0:0.0:0.5495:0.4505	.	57;274;274	B4DGG7;Q96G74;G5E9D7	.;OTUD5_HUMAN;.	W	274;250;147;274;274;57	ENSP00000379969:R274W;ENSP00000390767:R147W;ENSP00000156084:R274W;ENSP00000365671:R274W;ENSP00000401629:R57W	ENSP00000156084:R274W	R	-	1	2	OTUD5	48677018	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	2.556000	0.45862	0.565000	0.29255	0.529000	0.55759	CGG		0.473	OTUD5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000060799.1	NM_017602	
MAGED1	9500	broad.mit.edu	37	X	51640147	51640147	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:51640147C>T	ENST00000375722.1	+	4	1648	c.1396C>T	c.(1396-1398)Cga>Tga	p.R466*	MAGED1_ENST00000375695.2_Nonsense_Mutation_p.R522*|MAGED1_ENST00000375772.3_Nonsense_Mutation_p.R466*|MAGED1_ENST00000326587.7_Nonsense_Mutation_p.R466*|MAGED1_ENST00000494718.1_3'UTR			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	466					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)	p.R522*(1)		breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					TGCACAGCCCCGAGATGTGGC	0.547										Multiple Myeloma(10;0.10)																											p.R466X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1396T	X						.						32.0	24.0	26.0					X																	51640147		2203	4300	6503	51656887	SO:0001587	stop_gained	9500	exon4			AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.1396C>T	X.37:g.51640147C>T	ENSP00000364874:p.Arg466*		51656887	NM_006986	Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Nonsense_Mutation	SNP	ENST00000375722.1	37	CCDS14337.1	.	.	.	.	.	.	.	.	.	.	C	37	6.221827	0.97390	.	.	ENSG00000179222	ENST00000375772;ENST00000375722;ENST00000326587;ENST00000375695	.	.	.	4.0	3.13	0.36017	.	0.000000	0.28504	N	0.015110	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.5012	0.16829	0.0:0.6773:0.2014:0.1213	.	.	.	.	X	466;466;466;522	.	ENSP00000325333:R466X	R	+	1	2	MAGED1	51656887	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	0.963000	0.29293	0.794000	0.33899	0.429000	0.28392	CGA		0.547	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332	
SMC1A	8243	broad.mit.edu	37	X	53436413	53436413	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:53436413G>A	ENST00000322213.4	-	8	1403	c.1276C>T	c.(1276-1278)Cgg>Tgg	p.R426W	SMC1A_ENST00000375340.6_Missense_Mutation_p.R192W	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	426					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.R426W(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TCAATTTCCCGCAGCTTTTGC	0.488																																					p.R426W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1276T	X						.						211.0	150.0	171.0					X																	53436413		2203	4300	6503	53453138	SO:0001583	missense	8243	exon8			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.1276C>T	X.37:g.53436413G>A	ENSP00000323421:p.Arg426Trp		53453138	NM_006306	O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.453576	0.84209	.	.	ENSG00000072501	ENST00000322213;ENST00000375340	T;T	0.78481	-1.18;3.23	4.97	4.1	0.47936	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.78935	0.4362	N	0.24115	0.695	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.992;0.998	D;P;D	0.70487	0.969;0.889;0.947	T	0.80367	-0.1412	10	0.72032	D	0.01	.	11.6767	0.51434	0.0:0.0:0.6814:0.3185	.	192;404;426	B7Z709;Q6MZR8;Q14683	.;.;SMC1A_HUMAN	W	426;192	ENSP00000323421:R426W;ENSP00000364489:R192W	ENSP00000323421:R426W	R	-	1	2	SMC1A	53453138	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	2.217000	0.42880	1.005000	0.39183	0.600000	0.82982	CGG		0.488	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306	
RIBC1	158787	broad.mit.edu	37	X	53456906	53456906	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:53456906G>A	ENST00000375327.3	+	6	802	c.649G>A	c.(649-651)Gcc>Acc	p.A217T	RP3-339A18.6_ENST00000418049.1_RNA|HSD17B10_ENST00000495986.1_5'Flank|RIBC1_ENST00000414955.2_Missense_Mutation_p.A102T	NM_001031745.2	NP_001026915.1	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1	217								p.A217T(1)		lung(2)	2						CATGGCCAACGCCAACAAAGC	0.577																																					p.A217T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G649A	X						.						70.0	53.0	59.0					X																	53456906		2203	4300	6503	53473631	SO:0001583	missense	158787	exon6			AK057345	CCDS14353.1, CCDS35299.1, CCDS59168.1	Xp11.23	2006-04-12			ENSG00000158423	ENSG00000158423			26537	protein-coding gene	gene with protein product							Standard	NM_144968		Approved	FLJ32783	uc004dsk.4	Q8N443	OTTHUMG00000021615	ENST00000375327.3:c.649G>A	X.37:g.53456906G>A	ENSP00000364476:p.Ala217Thr		53473631	NM_001031745	B4E297|E9PDU2|Q5H931|Q96A80	Missense_Mutation	SNP	ENST00000375327.3	37	CCDS35299.1	.	.	.	.	.	.	.	.	.	.	G	7.890	0.732029	0.15507	.	.	ENSG00000158423	ENST00000414955;ENST00000375327	T;T	0.24151	1.87;1.87	5.6	1.46	0.22682	.	0.609806	0.18169	N	0.149517	T	0.18215	0.0437	M	0.63428	1.95	0.09310	N	1	D;P	0.53151	0.958;0.835	B;B	0.38296	0.27;0.207	T	0.17379	-1.0371	10	0.27082	T	0.32	0.1122	3.5153	0.07722	0.3107:0.0:0.4197:0.2696	.	102;217	E9PDU2;Q8N443	.;RIBC1_HUMAN	T	102;217	ENSP00000401463:A102T;ENSP00000364476:A217T	ENSP00000364476:A217T	A	+	1	0	RIBC1	53473631	0.254000	0.23992	0.038000	0.18304	0.011000	0.07611	0.702000	0.25631	0.197000	0.20387	-0.527000	0.04329	GCC		0.577	RIBC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056762.1	NM_144968	
PFKFB1	5207	broad.mit.edu	37	X	54986261	54986261	+	Splice_Site	SNP	G	G	A	rs202099559		TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:54986261G>A	ENST00000375006.3	-	4	453	c.383C>T	c.(382-384)gCg>gTg	p.A128V	PFKFB1_ENST00000374992.2_Splice_Site_p.A106V|PFKFB1_ENST00000545676.1_Splice_Site_p.A63V	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	128	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)	p.A128V(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TTTCTTTACCGCAACATGACC	0.418																																					p.A128V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C383T	X						.	G	VAL/ALA	1,3834		0,1,1631,571	36.0	33.0	34.0		383	4.9	1.0	X		34	1,6727		0,1,2427,1872	yes	missense-near-splice	PFKFB1	NM_002625.2	64	0,2,4058,2443	AA,AG,GG,G		0.0149,0.0261,0.0189	benign	128/472	54986261	2,10561	2203	4300	6503	55002986	SO:0001630	splice_region_variant	5207	exon4				CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.384+1C>T	X.37:g.54986261G>A			55002986	NM_002625	B2RA88|B4DUN5|Q5JXS5|Q99951	Missense_Mutation	SNP	ENST00000375006.3	37	CCDS14364.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981663	0.74474	2.61E-4	1.49E-4	ENSG00000158571	ENST00000375006;ENST00000545676;ENST00000374992	T	0.35789	1.29	4.95	4.95	0.65309	6-phosphofructo-2-kinase (1);	0.105674	0.64402	D	0.000006	T	0.58250	0.2109	M	0.75150	2.29	0.38367	D	0.944762	D;D;D	0.89917	1.0;0.98;0.993	P;P;P	0.62184	0.899;0.597;0.56	T	0.67428	-0.5673	10	0.72032	D	0.01	-8.5987	16.3489	0.83191	0.0:0.0:1.0:0.0	.	63;106;128	B4DUN5;Q4VBA9;P16118	.;.;F261_HUMAN	V	128;63;106	ENSP00000364131:A106V	ENSP00000364131:A106V	A	-	2	0	PFKFB1	55002986	1.000000	0.71417	0.998000	0.56505	0.281000	0.26958	9.546000	0.98097	2.200000	0.70718	0.600000	0.82982	GCG		0.418	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1		Missense_Mutation
ALAS2	212	broad.mit.edu	37	X	55039973	55039973	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:55039973G>T	ENST00000330807.5	-	10	1683	c.1546C>A	c.(1546-1548)Ctg>Atg	p.L516M	ALAS2_ENST00000396198.3_Missense_Mutation_p.L503M|ALAS2_ENST00000498636.1_Intron|ALAS2_ENST00000335854.4_Missense_Mutation_p.L479M	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	516					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)	p.L516M(1)		central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	GCCAAGCGCAGGAGCTCTTCA	0.577																																					p.L479M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1435A	X						.						73.0	58.0	63.0					X																	55039973		2203	4300	6503	55056698	SO:0001583	missense	212	exon9				CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"""sideroblastic/hypochromic anemia"""	301300	"""aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"""	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.1546C>A	X.37:g.55039973G>T	ENSP00000332369:p.Leu516Met		55056698	NM_001037967	A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Missense_Mutation	SNP	ENST00000330807.5	37	CCDS14366.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488520	0.84854	.	.	ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854	D;D;D	0.96427	-4.01;-4.01;-4.01	5.39	5.39	0.77823	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.98839	0.9608	H	0.97131	3.945	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99698	1.1003	10	0.87932	D	0	-13.5767	17.1864	0.86868	0.0:0.0:1.0:0.0	.	479;503;516	A8K6C4;Q5JZF5;P22557	.;.;HEM0_HUMAN	M	516;503;479	ENSP00000332369:L516M;ENSP00000379501:L503M;ENSP00000337131:L479M	ENSP00000332369:L516M	L	-	1	2	ALAS2	55056698	1.000000	0.71417	0.991000	0.47740	0.961000	0.63080	5.802000	0.69122	2.411000	0.81874	0.538000	0.68166	CTG		0.577	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056843.3	NM_000032	
RRAGB	10325	broad.mit.edu	37	X	55784748	55784748	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:55784748G>A	ENST00000262850.7	+	11	1540	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	RRAGB_ENST00000374941.4_Missense_Mutation_p.G338E	NM_016656.3	NP_057740.2			Ras-related GTP binding B									p.G366E(1)		breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						AGAGTGGATGGACCAAAGCAG	0.418																																					p.G366E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1097A	X						.						84.0	70.0	75.0					X																	55784748		2203	4300	6503	55801473	SO:0001583	missense	10325	exon11			X90530	CCDS14371.1, CCDS14372.1	Xp11.21	2008-02-05			ENSG00000083750	ENSG00000083750			19901	protein-coding gene	gene with protein product		300725				7499430, 9394008	Standard	NM_006064		Approved		uc004dup.3	Q5VZM2	OTTHUMG00000021662	ENST00000262850.7:c.1097G>A	X.37:g.55784748G>A	ENSP00000262850:p.Gly366Glu		55801473	NM_016656		Missense_Mutation	SNP	ENST00000262850.7	37	CCDS14372.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.359496	0.41801	.	.	ENSG00000083750	ENST00000374941;ENST00000262850	T	0.62788	0.0	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.57330	0.2046	N	0.03154	-0.405	0.80722	D	1	D;B	0.89917	1.0;0.004	D;B	0.87578	0.998;0.006	T	0.62445	-0.6853	10	0.28530	T	0.3	-11.328	14.4258	0.67215	0.0:0.0:1.0:0.0	.	338;366	Q5VZM2-2;Q5VZM2	.;RRAGB_HUMAN	E	338;366	ENSP00000364077:G338E	ENSP00000262850:G366E	G	+	2	0	RRAGB	55801473	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.743000	0.91592	2.202000	0.70862	0.529000	0.55759	GGA		0.418	RRAGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056878.1	NM_016656	
AR	367	broad.mit.edu	37	X	66941805	66941805	+	Splice_Site	SNP	A	A	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:66941805A>T	ENST00000374690.3	+	6	2973	c.2449A>T	c.(2449-2451)Att>Ttt	p.I817F	AR_ENST00000396043.2_Splice_Site_p.I285F|AR_ENST00000396044.3_Intron	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	816	Interaction with KAT7.|Interaction with LPXN.|Ligand-binding.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.I817F(1)|p.T627S(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CTTCAGCATTAGTAAGTGCCT	0.498									Androgen Insensitivity Syndrome																												p.I285F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A853T	X						.						77.0	60.0	66.0					X																	66941805		2203	4300	6503	66858530	SO:0001630	splice_region_variant	367	exon6	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.2449+1A>T	X.37:g.66941805A>T			66858530	NM_001011645	A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	CCDS14387.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	18.63|18.63	3.666300|3.666300	0.67814|0.67814	.|.	.|.	ENSG00000169083|ENSG00000169083	ENST00000374690;ENST00000396043|ENST00000544984	D;D|.	0.96587|.	-4.06;-4.06|.	4.75|4.75	4.75|4.75	0.60458|0.60458	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);|.	0.163252|.	0.53938|.	D|.	0.000041|.	T|T	0.64193|0.64193	0.2576|0.2576	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.976;0.999|.	P;D|.	0.64687|.	0.855;0.928|.	T|T	0.63625|0.63625	-0.6595|-0.6595	10|5	0.87932|.	D|.	0|.	.|.	11.0988|11.0988	0.48161|0.48161	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	285;816|.	F1D8N5;P10275|.	.;ANDR_HUMAN|.	F|S	817;285|627	ENSP00000363822:I817F;ENSP00000379358:I285F|.	ENSP00000363822:I817F|.	I|T	+|+	1|1	0|0	AR|AR	66858530|66858530	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.931000|0.931000	0.56810|0.56810	2.866000|2.866000	0.48420|0.48420	1.745000|1.745000	0.51790|0.51790	0.481000|0.481000	0.45027|0.45027	ATT|ACA		0.498	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044	Missense_Mutation
PJA1	64219	broad.mit.edu	37	X	68381406	68381406	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:68381406G>A	ENST00000361478.1	-	2	2053	c.1676C>T	c.(1675-1677)gCa>gTa	p.A559V	PJA1_ENST00000374583.1_Missense_Mutation_p.A559V|PJA1_ENST00000477231.1_5'Flank|PJA1_ENST00000374584.3_Missense_Mutation_p.A371V|PJA1_ENST00000374571.4_Missense_Mutation_p.A504V	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	559					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A559V(1)|p.A371V(1)		endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						TACATCCACTGCGAGAGACTC	0.557																																					p.A504V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1511T	X						.						103.0	78.0	86.0					X																	68381406		2203	4300	6503	68298131	SO:0001583	missense	64219	exon2			AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"""RING-type (C3HC4) zinc fingers"""	16648	protein-coding gene	gene with protein product		300420	"""praja 1"", ""praja ring finger 1"""			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.1676C>T	X.37:g.68381406G>A	ENSP00000355014:p.Ala559Val		68298131	NM_001032396	A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Missense_Mutation	SNP	ENST00000361478.1	37	CCDS14393.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.087940	0.36855	.	.	ENSG00000181191	ENST00000396010;ENST00000374584;ENST00000374583;ENST00000361478;ENST00000374571	T;T;T;T	0.15487	2.42;2.64;2.64;2.63	3.53	3.53	0.40419	.	0.000000	0.50627	U	0.000108	T	0.27384	0.0672	L	0.29908	0.895	0.21064	N	0.999794	D;D	0.67145	0.993;0.996	D;D	0.73380	0.978;0.98	T	0.02214	-1.1194	10	0.72032	D	0.01	-8.0732	12.2757	0.54733	0.0:0.0:1.0:0.0	.	559;371	Q8NG27;Q8NG27-2	PJA1_HUMAN;.	V	474;371;559;559;504	ENSP00000363712:A371V;ENSP00000363711:A559V;ENSP00000355014:A559V;ENSP00000363699:A504V	ENSP00000355014:A559V	A	-	2	0	PJA1	68298131	0.998000	0.40836	0.019000	0.16419	0.099000	0.18886	4.264000	0.58859	2.044000	0.60594	0.544000	0.68410	GCA		0.557	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2	NM_145119	
P2RY4	5030	broad.mit.edu	37	X	69478395	69478395	+	Silent	SNP	A	A	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:69478395A>G	ENST00000374519.2	-	1	1259	c.1080T>C	c.(1078-1080)ccT>ccC	p.P360P		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	360					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|transepithelial chloride transport (GO:0030321)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|uridine nucleotide receptor activity (GO:0015065)|UTP-activated nucleotide receptor activity (GO:0045030)	p.P360P(1)		cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						TATCTGCCCTAGGAGTAGAGC	0.597																																					p.P360P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1080C	X						.						51.0	52.0	52.0					X																	69478395		2198	4295	6493	69395120	SO:0001819	synonymous_variant	5030	exon1			X91852	CCDS14398.1	Xq13	2012-08-08			ENSG00000186912	ENSG00000186912		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8542	protein-coding gene	gene with protein product		300038				8537336	Standard	NM_002565		Approved	NRU, P2Y4, UNR, P2P	uc004dxz.1	P51582	OTTHUMG00000021769	ENST00000374519.2:c.1080T>C	X.37:g.69478395A>G			69395120	NM_002565	Q4VBB7|Q4VBB8|Q502W2|Q5JT22	Silent	SNP	ENST00000374519.2	37	CCDS14398.1																																																																																				0.597	P2RY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057058.2	NM_002565	
TAF1	6872	broad.mit.edu	37	X	70679458	70679458	+	Silent	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:70679458G>A	ENST00000373790.4	+	36	5169	c.5118G>A	c.(5116-5118)caG>caA	p.Q1706Q	TAF1_ENST00000276072.3_Silent_p.Q1727Q|TAF1_ENST00000423759.1_Silent_p.Q1729Q|TAF1_ENST00000461764.1_3'UTR|TAF1_ENST00000449580.1_Silent_p.Q1740Q	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1706	Asp/Glu-rich (acidic tail).|Protein kinase 2.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.Q1706Q(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CTGTACAACAGCCTCAAGCCA	0.468																																					p.Q1706Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G5118A	X						.						210.0	157.0	175.0					X																	70679458		2203	4300	6503	70596183	SO:0001819	synonymous_variant	6872	exon36				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.5118G>A	X.37:g.70679458G>A			70596183	NM_138923	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Silent	SNP	ENST00000373790.4	37	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	G	6.400	0.441988	0.12164	.	.	ENSG00000147133	ENST00000437147	.	.	.	4.93	0.0863	0.14445	.	.	.	.	.	T	0.43010	0.1228	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.18840	-1.0324	4	.	.	.	.	2.974	0.05932	0.2082:0.117:0.552:0.1229	.	.	.	.	N	395	.	.	S	+	2	0	TAF1	70596183	0.999000	0.42202	0.971000	0.41717	0.991000	0.79684	0.463000	0.21972	-0.345000	0.08325	0.523000	0.50628	AGC		0.468	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606	
MAGEE1	57692	broad.mit.edu	37	X	75650737	75650737	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:75650737T>G	ENST00000361470.2	+	1	2692	c.2414T>G	c.(2413-2415)cTt>cGt	p.L805R		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	805	Interaction with DTNA. {ECO:0000250}.|MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.L805R(2)|p.L805P(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CTAGTGGTACTTGATCCCAGG	0.502																																					p.L805R												.	.	4	Substitution - Missense(4)	large_intestine(2)|lung(2)	c.T2414G	X						.						80.0	70.0	73.0					X																	75650737		2203	4300	6503	75567141	SO:0001583	missense	57692	exon1			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.2414T>G	X.37:g.75650737T>G	ENSP00000354912:p.Leu805Arg		75567141	NM_020932	Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	.	14.01	2.407605	0.42715	.	.	ENSG00000198934	ENST00000361470	T	0.06687	3.27	2.37	2.37	0.29283	.	.	.	.	.	T	0.17831	0.0428	L	0.48642	1.525	0.26516	N	0.974511	D	0.69078	0.997	D	0.81914	0.995	T	0.05835	-1.0861	9	0.54805	T	0.06	.	5.8323	0.18586	0.0:0.0:0.0:1.0	.	805	Q9HCI5	MAGE1_HUMAN	R	805	ENSP00000354912:L805R	ENSP00000354912:L805R	L	+	2	0	MAGEE1	75567141	1.000000	0.71417	0.718000	0.30602	0.998000	0.95712	1.812000	0.38952	1.164000	0.42652	0.486000	0.48141	CTT		0.502	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932	
HMGN5	79366	broad.mit.edu	37	X	80370463	80370463	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:80370463delT	ENST00000358130.2	-	7	862	c.534delA	c.(532-534)aaafs	p.K178fs	HMGN5_ENST00000491275.1_5'Flank	NM_030763.2	NP_110390.1	P82970	HMGN5_HUMAN	high mobility group nucleosome binding domain 5	178					chromatin modification (GO:0016568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.G179fs*48(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	10						cgtcttcacctttttttccat	0.358																																					p.K178fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.534delA	X						.			13,2944		2,5,4,1322,295	228.0	184.0	200.0			-3.5	0.0	X		200	14,4655		1,8,4,1751,1145	no	frameshift	HMGN5	NM_030763.2		3,13,8,3073,1440	A1A1,A1R,A1,RR,R		0.2999,0.4396,0.3541			80370463	27,7599	1696	3063	4759	80257119	SO:0001589	frameshift_variant	79366	exon7			AF250329	CCDS14448.1	Xq13.3	2011-07-01	2011-04-05	2009-09-15	ENSG00000198157	ENSG00000198157		"""High-mobility group / Canonical"""	8013	protein-coding gene	gene with protein product		300385	"""nucleosomal binding protein 1"", ""high-mobility group nucleosome binding domain 5"""	NSBP1		11161810, 19748358	Standard	NM_030763		Approved		uc004eee.1	P82970	OTTHUMG00000021911	ENST00000358130.2:c.534delA	X.37:g.80370463delT	ENSP00000350848:p.Lys178fs		80257119	NM_030763	Q5JSL1	Frame_Shift_Del	DEL	ENST00000358130.2	37	CCDS14448.1																																																																																				0.358	HMGN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057354.1	NM_030763	
PCDH11X	27328	broad.mit.edu	37	X	91873511	91873511	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:91873511G>A	ENST00000373094.1	+	7	4461	c.3616G>A	c.(3616-3618)Gca>Aca	p.A1206T	PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A1169T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A1198T|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A1169T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A1188T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A1196T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1206					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A1206T(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACAGACCATCGCATTGTGCCA	0.592																																					p.A1206T	NSCLC(38;925 1092 2571 38200 45895)											.	.	2	Substitution - Missense(2)	large_intestine(1)|biliary_tract(1)	c.G3616A	X						.						199.0	151.0	167.0					X																	91873511		2203	4300	6503	91760167	SO:0001583	missense	27328	exon7			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3616G>A	X.37:g.91873511G>A	ENSP00000362186:p.Ala1206Thr		91760167	NM_032968	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.673993	0.29693	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.51817	0.72;0.72;0.71;0.69;0.73;0.7	3.93	0.12	0.14691	.	.	.	.	.	T	0.24122	0.0584	N	0.11560	0.145	0.09310	N	1	B;B;B;B;B	0.14805	0.011;0.011;0.011;0.011;0.006	B;B;B;B;B	0.09377	0.004;0.004;0.004;0.004;0.002	T	0.18555	-1.0333	9	0.72032	D	0.01	.	3.3411	0.07119	0.4774:0.0:0.3276:0.195	.	1169;1188;1198;1196;1206	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	T	1206;1196;1169;1188;1198;1206;1169	ENSP00000362186:A1206T;ENSP00000362189:A1196T;ENSP00000362180:A1169T;ENSP00000355105:A1188T;ENSP00000384758:A1198T;ENSP00000298274:A1169T	ENSP00000298274:A1169T	A	+	1	0	PCDH11X	91760167	0.001000	0.12720	0.001000	0.08648	0.007000	0.05969	0.071000	0.14594	0.004000	0.14682	0.466000	0.42574	GCA		0.592	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969	
PCDH19	57526	broad.mit.edu	37	X	99662990	99662990	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:99662990C>T	ENST00000373034.4	-	1	2281	c.606G>A	c.(604-606)tcG>tcA	p.S202S	PCDH19_ENST00000255531.7_Silent_p.S202S|PCDH19_ENST00000420881.2_Silent_p.S202S	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	202	Cadherin 2. {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.S202S(2)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						AGCTGTAGTGCGACTGCGTCT	0.632																																					p.S202S												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.G606A	X						.						55.0	58.0	57.0					X																	99662990		2163	4238	6401	99549646	SO:0001819	synonymous_variant	57526	exon1			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.606G>A	X.37:g.99662990C>T			99549646	NM_001105243	B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Silent	SNP	ENST00000373034.4	37	CCDS55462.1																																																																																				0.632	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766	
TSPAN6	7105	broad.mit.edu	37	X	99891686	99891686	+	Silent	SNP	C	C	T			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:99891686C>T	ENST00000373020.4	-	1	117	c.6G>A	c.(4-6)gcG>gcA	p.A2A	TSPAN6_ENST00000496771.1_5'UTR	NM_001278740.1|NM_001278741.1|NM_003270.2	NP_001265669.1|NP_001265670.1|NP_003261.1	O43657	TSN6_HUMAN	tetraspanin 6	2					negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039532)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)	p.A2A(1)		endometrium(2)|kidney(3)|large_intestine(6)|ovary(1)	12						GAGACGGGGACGCCATGACTA	0.557																																					p.A2A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G6A	X						.						57.0	47.0	51.0					X																	99891686		2203	4299	6502	99778342	SO:0001819	synonymous_variant	7105	exon1			AF043906	CCDS14470.1, CCDS76001.1	Xq22	2013-02-14	2005-03-21	2005-03-21	ENSG00000000003	ENSG00000000003		"""Tetraspanins"""	11858	protein-coding gene	gene with protein product		300191	"""transmembrane 4 superfamily member 6"""	TM4SF6		9782095	Standard	NM_003270		Approved	T245, TSPAN-6	uc004ega.1	O43657	OTTHUMG00000022002	ENST00000373020.4:c.6G>A	X.37:g.99891686C>T			99778342	NM_003270	Q54A42|Q6IAN9	Silent	SNP	ENST00000373020.4	37	CCDS14470.1																																																																																				0.557	TSPAN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057483.1		
DCX	1641	broad.mit.edu	37	X	110644469	110644469	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:110644469delT	ENST00000338081.3	-	3	868	c.697delA	c.(697-699)acafs	p.T233fs	DCX_ENST00000371993.2_Frame_Shift_Del_p.T152fs|DCX_ENST00000356220.3_Frame_Shift_Del_p.T152fs|DCX_ENST00000356915.2_Frame_Shift_Del_p.T152fs|DCX_ENST00000488120.1_Frame_Shift_Del_p.T152fs|DCX_ENST00000496551.1_5'UTR	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	233					axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)	p.T233fs*5(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						TTGGCAGATGTTTTTACGTTG	0.483																																					p.T152fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.454delA	X						.						136.0	121.0	126.0					X																	110644469		2203	4300	6503	110531125	SO:0001589	frameshift_variant	1641	exon3			AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.697delA	X.37:g.110644469delT	ENSP00000337697:p.Thr233fs		110531125	NM_178153	A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Frame_Shift_Del	DEL	ENST00000338081.3	37	CCDS14556.1																																																																																				0.483	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153	
SAGE1	55511	broad.mit.edu	37	X	134994054	134994054	+	Frame_Shift_Del	DEL	G	G	-	rs4829584	byFrequency	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:134994054delG	ENST00000370709.3	+	17	2463	c.2463delG	c.(2461-2463)aagfs	p.K822fs	SAGE1_ENST00000537770.1_Frame_Shift_Del_p.K446fs|SAGE1_ENST00000535938.1_Frame_Shift_Del_p.K822fs|SAGE1_ENST00000324447.3_Frame_Shift_Del_p.K822fs			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	822						nucleus (GO:0005634)		p.I823fs*5(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CCATGGCAAAGAAAATTAATG	0.373																																					p.K821fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2463delG	X						.						54.0	52.0	52.0					X																	134994054		2203	4299	6502	134821720	SO:0001589	frameshift_variant	55511	exon18			AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.2463delG	X.37:g.134994054delG	ENSP00000359743:p.Lys822fs		134821720	NM_018666	Q5JNW0	Frame_Shift_Del	DEL	ENST00000370709.3	37	CCDS14652.1																																																																																				0.373	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666	
TKTL1	8277	broad.mit.edu	37	X	153549248	153549248	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:153549248delG	ENST00000369915.3	+	8	1363	c.1174delG	c.(1174-1176)gggfs	p.G392fs	TKTL1_ENST00000369912.2_Frame_Shift_Del_p.G336fs|TKTL1_ENST00000217905.7_Frame_Shift_Del_p.G132fs	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	392					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.V393fs*16(1)		NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTCCCACTGTGGGGTATCTGT	0.453																																					p.G386fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1156delG	X						.						216.0	175.0	189.0					X																	153549248		2203	4300	6503	153202442	SO:0001589	frameshift_variant	8277	exon8			X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.1174delG	X.37:g.153549248delG	ENSP00000358931:p.Gly392fs		153202442	NM_001145933	A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Frame_Shift_Del	DEL	ENST00000369915.3	37	CCDS35448.1																																																																																				0.453	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058923.1	NM_012253	
MTCP1	4515	broad.mit.edu	37	X	154293801	154293801	+	Silent	SNP	T	T	C			TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3715-01A-01W-0900-09	TCGA-AA-3715-10A-01W-0900-09	g.chrX:154293801T>C	ENST00000369476.3	-	4	867	c.288A>G	c.(286-288)gtA>gtG	p.V96V	CMC4_ENST00000369479.1_5'Flank|CMC4_ENST00000369484.3_Intron|MTCP1_ENST00000362018.2_Silent_p.V96V|MTCP1_ENST00000482244.1_5'UTR	NM_001018025.3	NP_001018025.1	P56278	MTCP1_HUMAN	mature T-cell proliferation 1	96					cell proliferation (GO:0008283)	mitochondrion (GO:0005739)		p.V96V(2)		large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	5	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACAGCTCCTGTACTCCCCTGA	0.403			T	TRA@	T cell prolymphocytic leukemia																																p.V96V			Dom	yes		X	Xq28	4515	mature T-cell proliferation 1		L	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A288G	X						.						117.0	107.0	110.0					X																	154293801		1873	4108	5981	153946995	SO:0001819	synonymous_variant	4515	exon4				CCDS44027.1	Xq28	2011-10-10			ENSG00000214827	ENSG00000214827			7423	protein-coding gene	gene with protein product		300116				8361760, 8634440, 9691281	Standard	NM_001018025		Approved	P13MTCP1, p8MTCP1	uc004fmz.2	P56278	OTTHUMG00000156241	ENST00000369476.3:c.288A>G	X.37:g.154293801T>C			153946995	NM_001018025	Q5HYP2	Silent	SNP	ENST00000369476.3	37	CCDS44027.1																																																																																				0.403	MTCP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058776.1	NM_001018025	
