#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
ADAMTS6	11174	broad.mit.edu	37	5	64511306	64511307	+	IGR	INS	-	-	T			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr5:64511306_64511307insT								ADAMTS6 (16714 upstream) : ADAMTS6 (81727 downstream)														p.S761fs*2(1)									TCTCCTTCAGATTTTAAAGCTA	0.332																																					p.S761fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.2281_2282insA	5						.																																			64547063	SO:0001628	intergenic_variant	11174	exon19																															5.37:g.64511310_64511310dupT			64547062	NM_197941		Frame_Shift_Ins	INS		37																																																																																				0	0.332								
NFKB2	4791	broad.mit.edu	37	10	104158672	104158673	+	Intron	INS	-	-	A			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr10:104158672_104158673insA	ENST00000369966.3	+	12	1367				NFKB2_ENST00000336486.5_Intron|NFKB2_ENST00000428099.1_Intron|NFKB2_ENST00000189444.6_Intron	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)						extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	AGCTGTGGAGGAAAAAAATCTG	0.614			T	IGH@	B-NHL																																.			Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	.	.	0			.	10						.																																			104148663	SO:0001627	intron_variant	4791	.			X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"""Ankyrin repeat domain containing"""	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.1117+51->A	10.37:g.104158679_104158679dupA			104148662	.	A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Frame_Shift_Ins	INS	ENST00000369966.3	37	CCDS41564.1																																																																																				0.614	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2		
SVOPL	136306	broad.mit.edu	37	7	138312916	138312916	+	Silent	SNP	G	G	A	rs374157361		TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr7:138312916G>A	ENST00000419765.3	-	10	1089	c.1056C>T	c.(1054-1056)atC>atT	p.I352I	SNORA40_ENST00000516379.1_RNA|SVOPL_ENST00000421622.1_Silent_p.I232I|SVOPL_ENST00000288513.5_Silent_p.I200I|SVOPL_ENST00000463557.1_5'Flank|SVOPL_ENST00000436657.1_Silent_p.I200I	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	352						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)	p.I352I(1)|p.I200I(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CAATTTCACCGATGGTGCTGA	0.552																																					p.I200I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C600T	7						.	G	,	0,4406		0,0,2203	171.0	122.0	138.0		1056,600	-8.6	0.0	7		138	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SVOPL	NM_001139456.1,NM_174959.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	352/493,200/341	138312916	1,13005	2203	4300	6503	137963456	SO:0001819	synonymous_variant	136306	exon7			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.1056C>T	7.37:g.138312916G>A			137963456	NM_174959		Silent	SNP	ENST00000419765.3	37	CCDS47721.1																																																																																				0.552	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4	NM_174959	
SYCP2	10388	broad.mit.edu	37	20	58489210	58489210	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr20:58489210A>G	ENST00000357552.3	-	11	956	c.731T>C	c.(730-732)tTt>tCt	p.F244S	SYCP2_ENST00000371001.2_Missense_Mutation_p.F244S			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	244					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)	p.F244S(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CTTAGCAATAAAATCCATTGA	0.299																																					p.F244S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T731C	20						.						81.0	79.0	80.0					20																	58489210		2201	4297	6498	57922605	SO:0001583	missense	10388	exon10			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.731T>C	20.37:g.58489210A>G	ENSP00000350162:p.Phe244Ser		57922605	NM_014258	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	A	19.13	3.767541	0.69878	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.05139	3.49;3.49;3.49	5.1	5.1	0.69264	.	0.101712	0.44902	D	0.000405	T	0.21631	0.0521	L	0.56769	1.78	0.37068	D	0.898402	D;D	0.89917	0.999;1.0	D;D	0.76575	0.929;0.988	T	0.03103	-1.1072	10	0.72032	D	0.01	-16.6685	15.1945	0.73075	1.0:0.0:0.0:0.0	.	244;244	A2A341;Q9BX26	.;SYCP2_HUMAN	S	244	ENSP00000360040:F244S;ENSP00000350162:F244S;ENSP00000402456:F244S	ENSP00000350162:F244S	F	-	2	0	SYCP2	57922605	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.739000	0.62080	2.057000	0.61298	0.533000	0.62120	TTT		0.299	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258	
SLC17A9	63910	broad.mit.edu	37	20	61597010	61597010	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr20:61597010A>T	ENST00000370351.4	+	10	1125	c.994A>T	c.(994-996)Acc>Tcc	p.T332S	SLC17A9_ENST00000370349.3_Missense_Mutation_p.T326S|SLC17A9_ENST00000488738.1_3'UTR	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	332					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.T332S(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CCTGGGCCACACCTCCAGCTT	0.647																																					p.T332S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A994T	20						.						151.0	165.0	160.0					20																	61597010		2130	4241	6371	61067455	SO:0001583	missense	63910	exon10			AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"""Solute carriers"""	16192	protein-coding gene	gene with protein product		612107	"""chromosome 20 open reading frame 59"", ""solute carrier family 17, member 9"""	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.994A>T	20.37:g.61597010A>T	ENSP00000359376:p.Thr332Ser		61067455	NM_022082	B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Missense_Mutation	SNP	ENST00000370351.4	37	CCDS42901.1	.	.	.	.	.	.	.	.	.	.	A	10.89	1.479545	0.26511	.	.	ENSG00000101194	ENST00000370351;ENST00000370349	T;T	0.58797	0.31;0.31	4.8	4.8	0.61643	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.206521	0.48767	N	0.000163	T	0.52224	0.1721	L	0.50919	1.6	0.54753	D	0.999985	B;B;B	0.17038	0.02;0.011;0.009	B;B;B	0.24006	0.05;0.034;0.02	T	0.49615	-0.8921	10	0.34782	T	0.22	.	12.9271	0.58266	1.0:0.0:0.0:0.0	.	352;332;326	B4DPU8;Q9BYT1;Q9BYT1-2	.;S17A9_HUMAN;.	S	332;326	ENSP00000359376:T332S;ENSP00000359374:T326S	ENSP00000359374:T326S	T	+	1	0	SLC17A9	61067455	1.000000	0.71417	0.915000	0.36163	0.133000	0.20885	5.057000	0.64294	1.788000	0.52465	0.459000	0.35465	ACC		0.647	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082	
SEC23A	10484	broad.mit.edu	37	14	39524468	39524468	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr14:39524468A>G	ENST00000307712.6	-	14	2055	c.1538T>C	c.(1537-1539)aTt>aCt	p.I513T	SEC23A_ENST00000536508.1_Missense_Mutation_p.I387T|SEC23A_ENST00000537403.1_Missense_Mutation_p.I311T|SEC23A_ENST00000545328.2_Missense_Mutation_p.I484T	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	513					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)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)	p.I513T(1)		kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		AGATGCAGCAATGTTTTGGAT	0.433																																					p.I513T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1538C	14						.						97.0	93.0	94.0					14																	39524468		2203	4300	6503	38594219	SO:0001583	missense	10484	exon14			X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"""Sec23 (S. cerevisiae) homolog A"""			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.1538T>C	14.37:g.39524468A>G	ENSP00000306881:p.Ile513Thr		38594219	NM_006364	B2R5P4|B3KXI2|Q8NE16	Missense_Mutation	SNP	ENST00000307712.6	37	CCDS9668.1	.	.	.	.	.	.	.	.	.	.	A	19.62	3.862078	0.71949	.	.	ENSG00000100934	ENST00000537403;ENST00000307712;ENST00000536508;ENST00000545328	D;D;D;D	0.89939	-1.56;-2.04;-2.59;-2.04	5.81	5.81	0.92471	.	0.051004	0.85682	D	0.000000	D	0.94578	0.8253	M	0.92507	3.315	0.80722	D	1	P;P;P	0.51791	0.948;0.896;0.913	P;P;P	0.54270	0.747;0.66;0.459	D	0.95637	0.8695	10	0.87932	D	0	-22.5493	16.1603	0.81700	1.0:0.0:0.0:0.0	.	484;387;513	F5H365;F5H6C4;Q15436	.;.;SC23A_HUMAN	T	311;513;387;484	ENSP00000444193:I311T;ENSP00000306881:I513T;ENSP00000437715:I387T;ENSP00000445393:I484T	ENSP00000306881:I513T	I	-	2	0	SEC23A	38594219	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.138000	0.94501	2.218000	0.71995	0.450000	0.29827	ATT		0.433	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276728.2		
SPTB	6710	broad.mit.edu	37	14	65270368	65270368	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr14:65270368C>T	ENST00000389721.5	-	3	463	c.431G>A	c.(430-432)cGc>cAc	p.R144H	SPTB_ENST00000542895.1_Missense_Mutation_p.R144H|SPTB_ENST00000389720.3_Missense_Mutation_p.R144H|SPTB_ENST00000556626.1_Missense_Mutation_p.R144H|SPTB_ENST00000389722.3_Missense_Mutation_p.R144H	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	144	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.R144H(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CAGGACCAGGCGGTGGTTGCC	0.607																																					p.R144H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G431A	14						.						112.0	101.0	105.0					14																	65270368		2203	4300	6503	64340121	SO:0001583	missense	6710	exon3				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.431G>A	14.37:g.65270368C>T	ENSP00000374371:p.Arg144His		64340121	NM_001024858	Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	35	5.425798	0.96131	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23	5.38	5.38	0.77491	Actinin-type, actin-binding, conserved site (1);Calponin homology domain (5);	0.053422	0.85682	D	0.000000	T	0.68833	0.3044	L	0.39020	1.185	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.72338	0.977;0.952	T	0.71286	-0.4638	10	0.87932	D	0	.	18.2717	0.90070	0.0:1.0:0.0:0.0	.	144;148	P11277;Q59FP5	SPTB1_HUMAN;.	H	148;144;144;144;144;144	ENSP00000374372:R144H;ENSP00000451752:R144H;ENSP00000374371:R144H;ENSP00000443882:R144H;ENSP00000374370:R144H	ENSP00000374370:R144H	R	-	2	0	SPTB	64340121	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.776000	0.85560	2.677000	0.91161	0.563000	0.77884	CGC		0.607	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1		
LRG1	116844	broad.mit.edu	37	19	4538669	4538669	+	Silent	SNP	G	G	A	rs567253168		TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr19:4538669G>A	ENST00000306390.6	-	2	787	c.327C>T	c.(325-327)ccC>ccT	p.P109P	LRG1_ENST00000586883.1_5'UTR|CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	109					brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.P109P(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGGAATTCGGGCGAGAGGC	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		16411	0.0		0.0	False		,,,				2504	0.001				p.P109P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C327T	19						.						24.0	27.0	26.0					19																	4538669		2202	4300	6502	4489669	SO:0001819	synonymous_variant	116844	exon2				CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"""leucine rich alpha 2 glycoprotein"""	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.327C>T	19.37:g.4538669G>A			4489669	NM_052972	Q8N4F5|Q96QZ4	Silent	SNP	ENST00000306390.6	37	CCDS12130.1																																																																																				0.637	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458654.2	NM_052972	
SYDE1	85360	broad.mit.edu	37	19	15221024	15221024	+	Silent	SNP	C	C	A			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr19:15221024C>A	ENST00000342784.2	+	3	971	c.940C>A	c.(940-942)Cgg>Agg	p.R314R	SYDE1_ENST00000600440.1_Silent_p.R247R|SYDE1_ENST00000600252.1_5'UTR	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	314					activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)	p.R314R(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						GGACTTCCTGCGGCTGGACCA	0.726																																					p.R314R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C940A	19						.						5.0	8.0	7.0					19																	15221024		1948	3801	5749	15082024	SO:0001819	synonymous_variant	85360	exon3			BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.940C>A	19.37:g.15221024C>A			15082024	NM_033025	Q7L2I8|Q8N6J2|Q9H8K4	Silent	SNP	ENST00000342784.2	37	CCDS12324.1																																																																																				0.726	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465666.1	NM_033025	
PSMC4	5704	broad.mit.edu	37	19	40480525	40480525	+	Silent	SNP	C	C	T	rs201936053	byFrequency	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr19:40480525C>T	ENST00000157812.2	+	5	762	c.564C>T	c.(562-564)ttC>ttT	p.F188F	PSMC4_ENST00000455878.2_Silent_p.F157F	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	188					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)|ATP catabolic process (GO:0006200)|blastocyst development (GO:0001824)|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)|proteolysis (GO:0006508)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|inclusion body (GO:0016234)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.F188F(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCACGCATTTCGAGCTCTACA	0.622													C|||	2	0.000399361	0.0	0.0014	5008	,	,		18922	0.0		0.001	False		,,,				2504	0.0				p.F157F	Colon(105;1478 1543 4034 6132 38638)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C471T	19						.						51.0	56.0	54.0					19																	40480525		2203	4300	6503	45172365	SO:0001819	synonymous_variant	5704	exon5			U27515	CCDS12547.1, CCDS46076.1	19q13.11-q13.13	2010-04-21			ENSG00000013275	ENSG00000013275		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9551	protein-coding gene	gene with protein product	"""protease 26S subunit 6"", ""Tat-binding protein 7"", ""MB67 interacting protein"""	602707		MIP224		9473509, 8603043	Standard	NM_006503		Approved	TBP7, S6, MGC8570, MGC13687, MGC23214, TBP-7	uc002omq.4	P43686		ENST00000157812.2:c.564C>T	19.37:g.40480525C>T			45172365	NM_153001	Q96FV5|Q9UBM3|Q9UEX3	Silent	SNP	ENST00000157812.2	37	CCDS12547.1																																																																																				0.622	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462485.1	NM_006503	
CACNG7	59284	broad.mit.edu	37	19	54418628	54418628	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr19:54418628G>A	ENST00000391767.1	+	4	505	c.293G>A	c.(292-294)cGc>cAc	p.R98H	CACNG7_ENST00000391766.1_Missense_Mutation_p.R98H|CACNG7_ENST00000222212.2_Missense_Mutation_p.R98H|CACNG7_ENST00000468076.1_3'UTR			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	98					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.R98H(1)		NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		GAGACAGTGCGCACGGCCACC	0.627																																					p.R98H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G293A	19						.						72.0	60.0	64.0					19																	54418628		2203	4300	6503	59110440	SO:0001583	missense	59284	exon3			AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"""Calcium channel subunits"""	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.293G>A	19.37:g.54418628G>A	ENSP00000375647:p.Arg98His		59110440	NM_031896	Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Missense_Mutation	SNP	ENST00000391767.1	37	CCDS12868.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.729511	0.89390	.	.	ENSG00000105605	ENST00000391767;ENST00000222212;ENST00000391766	D;D;D	0.89875	-2.58;-2.58;-2.58	3.9	3.9	0.45041	.	0.000000	0.85682	D	0.000000	D	0.93357	0.7882	M	0.84082	2.675	0.80722	D	1	D	0.69078	0.997	P	0.61070	0.883	D	0.93851	0.7145	10	0.59425	D	0.04	-22.6554	14.1939	0.65656	0.0:0.0:1.0:0.0	.	98	P62955	CCG7_HUMAN	H	98	ENSP00000375647:R98H;ENSP00000222212:R98H;ENSP00000375646:R98H	ENSP00000222212:R98H	R	+	2	0	CACNG7	59110440	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.081000	0.94049	2.451000	0.82905	0.655000	0.94253	CGC		0.627	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2		
MUC16	94025	broad.mit.edu	37	19	9049680	9049680	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr19:9049680C>A	ENST00000397910.4	-	5	32154	c.31951G>T	c.(31951-31953)Gca>Tca	p.A10651S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10653	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.A6284S(1)|p.A10651S(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						GGGGTCAGTGCATCTAGTTCA	0.473																																					p.A10651S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G31951T	19						.						137.0	122.0	127.0					19																	9049680		2015	4178	6193	8910680	SO:0001583	missense	94025	exon5			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.31951G>T	19.37:g.9049680C>A	ENSP00000381008:p.Ala10651Ser		8910680	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	5.841	0.339450	0.11069	.	.	ENSG00000181143	ENST00000397910	T	0.02631	4.22	2.33	-4.67	0.03319	.	.	.	.	.	T	0.02494	0.0076	N	0.22421	0.69	.	.	.	P	0.34977	0.478	B	0.38020	0.263	T	0.30534	-0.9975	8	0.87932	D	0	.	9.4227	0.38561	0.0:0.2699:0.0:0.7301	.	10651	B5ME49	.	S	10651	ENSP00000381008:A10651S	ENSP00000381008:A10651S	A	-	1	0	MUC16	8910680	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-7.255000	0.00040	-1.583000	0.01638	0.298000	0.19748	GCA		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
ZNF615	284370	broad.mit.edu	37	19	52496253	52496253	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr19:52496253delT	ENST00000602063.1	-	6	2425	c.2076delA	c.(2074-2076)aaafs	p.K692fs	ZNF615_ENST00000598071.1_Frame_Shift_Del_p.K703fs|ZNF615_ENST00000391795.3_Frame_Shift_Del_p.K697fs|ZNF615_ENST00000594083.1_Frame_Shift_Del_p.K703fs|ZNF615_ENST00000376716.5_Frame_Shift_Del_p.K692fs			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	692					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.K703fs*>40(1)|p.K692fs*>40(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGAGCCCTGATTTTGTAGTGA	0.413																																					p.K692fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.2076delA	19						.						167.0	164.0	165.0					19																	52496253		2203	4300	6503	57188065	SO:0001589	frameshift_variant	284370	exon6			AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.2076delA	19.37:g.52496253delT	ENSP00000473089:p.Lys692fs		57188065	NM_198480	B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Frame_Shift_Del	DEL	ENST00000602063.1	37	CCDS12846.1																																																																																				0.413	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480	
NLRP4	147945	broad.mit.edu	37	19	56369571	56369571	+	Missense_Mutation	SNP	C	C	T	rs147621156		TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr19:56369571C>T	ENST00000301295.6	+	3	1234	c.812C>T	c.(811-813)cCg>cTg	p.P271L	NLRP4_ENST00000587891.1_Missense_Mutation_p.P196L|NLRP4_ENST00000346986.5_Missense_Mutation_p.P271L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	271	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.P271L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AAGATGCTCCCGGAGGCCTCC	0.582																																					p.P271L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C812T	19						.	C	LEU/PRO	0,4406		0,0,2203	69.0	76.0	74.0		812	3.1	0.2	19	dbSNP_134	74	1,8599		0,1,4299	no	missense	NLRP4	NM_134444.4	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	271/995	56369571	1,13005	2203	4300	6503	61061383	SO:0001583	missense	147945	exon3			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.812C>T	19.37:g.56369571C>T	ENSP00000301295:p.Pro271Leu		61061383	NM_134444	Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.235428	0.39498	0.0	1.16E-4	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.82803	-1.65;-1.65	4.1	3.06	0.35304	NACHT nucleoside triphosphatase (1);	.	.	.	.	D	0.88179	0.6367	M	0.67517	2.055	0.45415	D	0.998397	D;D;D	0.76494	0.999;0.998;0.998	D;P;P	0.74023	0.982;0.761;0.846	D	0.87827	0.2642	9	0.72032	D	0.01	.	9.8202	0.40878	0.0:0.8973:0.0:0.1027	.	271;196;271	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	L	271	ENSP00000301295:P271L;ENSP00000344787:P271L	ENSP00000301295:P271L	P	+	2	0	NLRP4	61061383	0.027000	0.19231	0.156000	0.22583	0.107000	0.19398	0.783000	0.26802	1.075000	0.40932	-0.136000	0.14681	CCG		0.582	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444	
POLR2K	5440	broad.mit.edu	37	8	101163632	101163632	+	Missense_Mutation	SNP	T	T	C	rs200510163		TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr8:101163632T>C	ENST00000353107.3	+	2	184	c.49T>C	c.(49-51)Tat>Cat	p.Y17H	POLR2K_ENST00000522439.1_Missense_Mutation_p.Y17H|POLR2K_ENST00000519765.1_3'UTR	NM_005034.3	NP_005025.1	P53803	RPAB4_HUMAN	polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa	17					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|RNA splicing (GO:0008380)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)	p.Y17H(1)		large_intestine(1)|lung(1)|prostate(1)	3	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.59e-09)|all cancers(13;1.74e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			ACCAATGATATATATCTGTGG	0.348													T|||	1	0.000199681	0.0	0.0014	5008	,	,		19496	0.0		0.0	False		,,,				2504	0.0				p.Y17H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T49C	8						.						96.0	96.0	96.0					8																	101163632		2203	4300	6503	101232808	SO:0001583	missense	5440	exon2				CCDS6285.1	8q22	2013-01-21	2002-08-29		ENSG00000147669	ENSG00000147669		"""RNA polymerase subunits"""	9198	protein-coding gene	gene with protein product		606033	"""polymerase (RNA) II (DNA directed) polypeptide K (7.0kD)"""				Standard	NM_005034		Approved	RPB10alpha	uc003yjf.3	P53803	OTTHUMG00000164705	ENST00000353107.3:c.49T>C	8.37:g.101163632T>C	ENSP00000342889:p.Tyr17His		101232808	NM_005034	Q6IBD4	Missense_Mutation	SNP	ENST00000353107.3	37	CCDS6285.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	T	31	5.086820	0.94100	.	.	ENSG00000147669	ENST00000353107;ENST00000522439	.	.	.	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000001	T	0.57651	0.2068	.	.	.	0.80722	D	1	B	0.16396	0.017	B	0.18561	0.022	T	0.54931	-0.8219	8	0.62326	D	0.03	.	16.1099	0.81255	0.0:0.0:0.0:1.0	.	17	P53803	RPAB4_HUMAN	H	17	.	ENSP00000342889:Y17H	Y	+	1	0	POLR2K	101232808	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.009000	0.70745	2.285000	0.76669	0.533000	0.62120	TAT		0.348	POLR2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379849.1	NM_005034	
MYBL1	4603	broad.mit.edu	37	8	67492524	67492524	+	Silent	SNP	G	G	A	rs565495156		TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr8:67492524G>A	ENST00000522677.3	-	9	1355	c.945C>T	c.(943-945)gaC>gaT	p.D315D	MYBL1_ENST00000524176.2_Silent_p.D315D|MYBL1_ENST00000517885.1_Intron	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	315	Negative regulatory domain. {ECO:0000250}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	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 positive regulation of transcription (GO:0001077)	p.D315D(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			TAGTGTGCTCGTCAAGGCTAT	0.433													G|||	1	0.000199681	0.0	0.0	5008	,	,		16978	0.0		0.0	False		,,,				2504	0.001				p.D315D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C945T	8						.						70.0	68.0	69.0					8																	67492524		1902	4127	6029	67655078	SO:0001819	synonymous_variant	4603	exon9			X13294	CCDS47867.1, CCDS55241.1	8q22	2013-07-09	2013-07-09		ENSG00000185697	ENSG00000185697			7547	protein-coding gene	gene with protein product		159405					Standard	XM_005251251		Approved	AMYB, A-myb	uc003xwj.3	P10243	OTTHUMG00000164559	ENST00000522677.3:c.945C>T	8.37:g.67492524G>A			67655078	NM_001080416	E7EW29|Q495F9	Silent	SNP	ENST00000522677.3	37	CCDS47867.1																																																																																				0.433	MYBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379221.3	XM_034274	
KCNB2	9312	broad.mit.edu	37	8	73848703	73848703	+	Silent	SNP	A	A	G			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr8:73848703A>G	ENST00000523207.1	+	3	1701	c.1113A>G	c.(1111-1113)tcA>tcG	p.S371S		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	371					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.S371S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	TCCCTGCATCATTTTGGTGGG	0.438																																					p.S371S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1113G	8						.						112.0	113.0	113.0					8																	73848703		2203	4300	6503	74011257	SO:0001819	synonymous_variant	9312	exon3			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1113A>G	8.37:g.73848703A>G			74011257	NM_004770	Q7Z7D0|Q9BXD3	Silent	SNP	ENST00000523207.1	37	CCDS6209.1																																																																																				0.438	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770	
RALYL	138046	broad.mit.edu	37	8	85762215	85762215	+	Splice_Site	SNP	C	C	T	rs182622234		TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr8:85762215C>T	ENST00000521268.1	+	5	1471	c.366C>T	c.(364-366)ggC>ggT	p.G122G	RALYL_ENST00000522455.1_Splice_Site_p.G122G|RALYL_ENST00000521695.1_Splice_Site_p.G122G|RALYL_ENST00000521376.1_Intron|RALYL_ENST00000523850.1_Splice_Site_p.G49G|RALYL_ENST00000518566.1_Splice_Site_p.S111S|RALYL_ENST00000517638.1_Splice_Site_p.G135G	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	122							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G122G(2)		endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CCCTCTTTAGCGGTTATGTCT	0.259													C|||	1	0.000199681	0.0	0.0	5008	,	,		12219	0.0		0.001	False		,,,				2504	0.0				p.G122G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C366T	8						.						105.0	90.0	95.0					8																	85762215		1783	4039	5822	85924770	SO:0001630	splice_region_variant	138046	exon6				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.366-1C>T	8.37:g.85762215C>T			85924770	NM_001100392	B3KTH2|G3V129|Q6ZW87|Q8N1C2	Silent	SNP	ENST00000521268.1	37	CCDS55253.1																																																																																				0.259	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1		Silent
COL22A1	169044	broad.mit.edu	37	8	139606408	139606408	+	Silent	SNP	C	C	T	rs201934935		TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr8:139606408C>T	ENST00000303045.6	-	63	4913	c.4467G>A	c.(4465-4467)ccG>ccA	p.P1489P	COL22A1_ENST00000435777.1_Silent_p.P1469P|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1489	Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.P1489P(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCATGTACGCCGGGGGCATCT	0.597										HNSCC(7;0.00092)			T|||	1	0.000199681	0.0	0.0	5008	,	,		17740	0.001		0.0	False		,,,				2504	0.0				p.P1489P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4467A	8						.						37.0	42.0	41.0					8																	139606408		2203	4300	6503	139675590	SO:0001819	synonymous_variant	169044	exon63			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4467G>A	8.37:g.139606408C>T			139675590	NM_152888	B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	CCDS6376.1																																																																																				0.597	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	
VAV3	10451	broad.mit.edu	37	1	108293775	108293775	+	Missense_Mutation	SNP	C	C	T	rs377138310		TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr1:108293775C>T	ENST00000370056.4	-	13	1497	c.1223G>A	c.(1222-1224)cGa>cAa	p.R408Q	VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000371846.4_Missense_Mutation_p.R343Q|VAV3_ENST00000527011.1_Missense_Mutation_p.R408Q	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	408	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)	p.R408Q(1)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		AGTGGTTATTCGAATTTCACC	0.318																																					p.R408Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1223A	1						.	C	GLN/ARG	0,4406		0,0,2203	119.0	114.0	116.0		1223	5.5	1.0	1		116	2,8598	2.2+/-6.3	0,2,4298	no	missense	VAV3	NM_006113.4	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	408/848	108293775	2,13004	2203	4300	6503	108095298	SO:0001583	missense	10451	exon13			AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.1223G>A	1.37:g.108293775C>T	ENSP00000359073:p.Arg408Gln		108095298	NM_006113	B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	ENST00000370056.4	37	CCDS785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.098467|5.098467	0.94197|0.94197	0.0|0.0	2.33E-4|2.33E-4	ENSG00000134215|ENSG00000134215	ENST00000490388|ENST00000370056;ENST00000527011;ENST00000371846	.|D;D;D	.|0.87571	.|-2.27;-2.27;-2.27	5.5|5.5	5.5|5.5	0.81552|0.81552	.|Pleckstrin homology-type (1);Pleckstrin homology domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90099|0.90099	0.6907|0.6907	L|L	0.59436|0.59436	1.845|1.845	0.48087|0.48087	D|D	0.999586|0.999586	.|P;D;D;D	.|0.89917	.|0.901;1.0;0.957;0.957	.|P;D;P;P	.|0.91635	.|0.455;0.999;0.838;0.838	D|D	0.90942|0.90942	0.4798|0.4798	5|10	.|0.72032	.|D	.|0.01	.|.	12.6979|12.6979	0.57014|0.57014	0.0:0.9248:0.0:0.0752|0.0:0.9248:0.0:0.0752	.|.	.|408;408;343;408	.|B7ZLR1;E9PQ97;B4DHL6;Q9UKW4	.|.;.;.;VAV3_HUMAN	K|Q	403|408;408;343	.|ENSP00000359073:R408Q;ENSP00000432540:R408Q;ENSP00000360912:R343Q	.|ENSP00000359073:R408Q	E|R	-|-	1|2	0|0	VAV3|VAV3	108095298|108095298	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.696000|3.696000	0.54757|0.54757	2.591000|2.591000	0.87537|0.87537	0.563000|0.563000	0.77884|0.77884	GAA|CGA		0.318	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113	
CELSR2	1952	broad.mit.edu	37	1	109816155	109816155	+	Silent	SNP	C	C	T	rs552633270		TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr1:109816155C>T	ENST00000271332.3	+	33	8668	c.8607C>T	c.(8605-8607)tcC>tcT	p.S2869S	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2869					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.S2869S(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GGGGCTCCTCCGCTAGTGAGG	0.672																																					p.S2869S	NSCLC(158;1285 2011 34800 34852 42084)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C8607T	1						.						11.0	15.0	13.0					1																	109816155		2110	4240	6350	109617678	SO:0001819	synonymous_variant	1952	exon33			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.8607C>T	1.37:g.109816155C>T			109617678	NM_001408	Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	CCDS796.1																																																																																				0.672	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408	
KCNA2	3737	broad.mit.edu	37	1	111146917	111146917	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr1:111146917C>T	ENST00000485317.1	-	3	1161	c.488G>A	c.(487-489)aGg>aAg	p.R163K	KCNA2_ENST00000316361.4_Missense_Mutation_p.R163K|KCNA2_ENST00000369770.3_Missense_Mutation_p.R163K|KCNA2_ENST00000440270.1_Missense_Mutation_p.R163K|KCNA2_ENST00000525120.1_Intron			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	163					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.R163K(1)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	AGCTATAATCCTGGCAGGCCC	0.468																																					p.R163K	Pancreas(18;568 735 10587 23710 36357)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G488A	1						.						76.0	79.0	78.0					1																	111146917		2203	4300	6503	110948440	SO:0001583	missense	3737	exon2			L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.488G>A	1.37:g.111146917C>T	ENSP00000433109:p.Arg163Lys		110948440	NM_004974	Q86XG6	Missense_Mutation	SNP	ENST00000485317.1	37	CCDS827.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974093	0.74246	.	.	ENSG00000177301	ENST00000369770;ENST00000485317;ENST00000440270;ENST00000316361	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.74981	0.3788	L	0.53561	1.675	0.80722	D	1	P;D	0.58970	0.816;0.984	P;D	0.70716	0.66;0.97	T	0.70773	-0.4781	10	0.38643	T	0.18	.	20.0697	0.97716	0.0:1.0:0.0:0.0	.	163;163	Q86XG6;P16389	.;KCNA2_HUMAN	K	163	ENSP00000358785:R163K;ENSP00000433109:R163K;ENSP00000415257:R163K;ENSP00000314520:R163K	ENSP00000314520:R163K	R	-	2	0	KCNA2	110948440	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.757000	0.85209	2.751000	0.94390	0.609000	0.83330	AGG		0.468	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2	NM_004974	
KCNA3	3738	broad.mit.edu	37	1	111216790	111216790	+	Silent	SNP	G	G	A			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr1:111216790G>A	ENST00000369769.2	-	1	865	c.642C>T	c.(640-642)cgC>cgT	p.R214R		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	214					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)	p.R214R(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	GCTGGAAGTCGCGGCGGGGCA	0.687																																					p.R214R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C642T	1						.						36.0	44.0	41.0					1																	111216790		2200	4285	6485	111018313	SO:0001819	synonymous_variant	3738	exon1			L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.642C>T	1.37:g.111216790G>A			111018313	NM_002232	Q5VWN2	Silent	SNP	ENST00000369769.2	37	CCDS828.2																																																																																				0.687	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232	
HSD3B1	3283	broad.mit.edu	37	1	120054198	120054198	+	Missense_Mutation	SNP	G	G	T	rs541042731		TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr1:120054198G>T	ENST00000369413.3	+	3	363	c.218G>T	c.(217-219)tGc>tTc	p.C73F	HSD3B1_ENST00000235547.6_Missense_Mutation_p.C75F|HSD3B1_ENST00000528909.1_Missense_Mutation_p.C73F			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	73					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.C73F(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)	AAGAGAGCCTGCCAGGACGTC	0.488																																					p.C73F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G218T	1						.						104.0	97.0	99.0					1																	120054198		2203	4300	6503	119855721	SO:0001583	missense	3283	exon3			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.218G>T	1.37:g.120054198G>T	ENSP00000358421:p.Cys73Phe		119855721	NM_000862	A8K691|Q14545|Q8IV65	Missense_Mutation	SNP	ENST00000369413.3	37	CCDS903.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.932653	0.34096	.	.	ENSG00000203857	ENST00000531340;ENST00000369413;ENST00000235547;ENST00000528909	D;D;D;D	0.86366	-1.87;-2.11;-2.11;-2.11	3.27	2.31	0.28768	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.82167	0.4978	L	0.42008	1.315	0.54753	D	0.999989	P;P	0.50066	0.931;0.524	P;P	0.56434	0.798;0.452	T	0.79790	-0.1655	10	0.37606	T	0.19	-5.4127	9.7699	0.40582	0.0:0.2135:0.7865:0.0	.	75;73	Q5TDG2;P14060	.;3BHS1_HUMAN	F	73;73;75;73	ENSP00000435999:C73F;ENSP00000358421:C73F;ENSP00000235547:C75F;ENSP00000432268:C73F	ENSP00000235547:C75F	C	+	2	0	HSD3B1	119855721	1.000000	0.71417	0.974000	0.42286	0.084000	0.17831	4.187000	0.58344	0.527000	0.28560	0.491000	0.48974	TGC		0.488	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	NM_000862	
SELENBP1	8991	broad.mit.edu	37	1	151337106	151337106	+	Silent	SNP	C	C	T			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr1:151337106C>T	ENST00000368868.5	-	12	1423	c.1332G>A	c.(1330-1332)gtG>gtA	p.V444V	SELENBP1_ENST00000435071.1_Silent_p.V380V|SELENBP1_ENST00000473693.1_5'Flank|SELENBP1_ENST00000426705.2_Silent_p.V486V|SELENBP1_ENST00000447402.3_Silent_p.V382V	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1	444					protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	selenium binding (GO:0008430)	p.V444V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCCCGAAGTCCACCAGGAAGT	0.557																																					p.V444V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1332A	1						.						128.0	131.0	130.0					1																	151337106		2203	4300	6503	149603730	SO:0001819	synonymous_variant	8991	exon12			U29091	CCDS995.1, CCDS58027.1, CCDS60266.1	1q21.3	2014-05-19			ENSG00000143416	ENSG00000143416			10719	protein-coding gene	gene with protein product		604188				9027582	Standard	NM_003944		Approved	hSP56, hSBP, LPSB	uc010pcy.3	Q13228	OTTHUMG00000012498	ENST00000368868.5:c.1332G>A	1.37:g.151337106C>T			149603730	NM_003944	A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Silent	SNP	ENST00000368868.5	37	CCDS995.1																																																																																				0.557	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034904.4		
UBR4	23352	broad.mit.edu	37	1	19513100	19513100	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr1:19513100C>T	ENST00000375254.3	-	14	1711	c.1684G>A	c.(1684-1686)Gcc>Acc	p.A562T	UBR4_ENST00000375226.2_Missense_Mutation_p.A562T|UBR4_ENST00000375267.2_Missense_Mutation_p.A562T|UBR4_ENST00000375217.2_Missense_Mutation_p.A562T	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	562					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A562T(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCGGTGGAGGCGCTGGCATCG	0.517																																					p.A562T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1684A	1						.						61.0	58.0	59.0					1																	19513100		2203	4300	6503	19385687	SO:0001583	missense	23352	exon14			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.1684G>A	1.37:g.19513100C>T	ENSP00000364403:p.Ala562Thr		19385687	NM_020765	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652147	0.88056	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.38081	0.1027	N	0.22421	0.69	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.24404	-1.0161	10	0.62326	D	0.03	.	17.7534	0.88441	0.0:1.0:0.0:0.0	.	562	Q5T4S7	UBR4_HUMAN	T	562	ENSP00000364403:A562T;ENSP00000364416:A562T;ENSP00000364365:A562T;ENSP00000364374:A562T	ENSP00000364365:A562T	A	-	1	0	UBR4	19385687	1.000000	0.71417	0.990000	0.47175	0.941000	0.58515	7.250000	0.78287	2.519000	0.84933	0.655000	0.94253	GCC		0.517	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765	
HRNR	388697	broad.mit.edu	37	1	152193163	152193163	+	Silent	SNP	G	G	A	rs566382287	byFrequency	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr1:152193163G>A	ENST00000368801.2	-	3	1017	c.942C>T	c.(940-942)tcC>tcT	p.S314S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	314					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.S314S(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCCCGAACCGGACCCATGTC	0.612													G|||	2	0.000399361	0.0	0.0	5008	,	,		19938	0.0		0.0	False		,,,				2504	0.002				p.S314S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C942T	1						.						88.0	97.0	94.0					1																	152193163		2203	4300	6503	150459787	SO:0001819	synonymous_variant	388697	exon3			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.942C>T	1.37:g.152193163G>A			150459787	NM_001009931	Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	CCDS30859.1																																																																																				0.612	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868	
CFHR5	81494	broad.mit.edu	37	1	196952176	196952176	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr1:196952176G>A	ENST00000256785.4	+	2	329	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	CFHR5_ENST00000367414.5_Missense_Mutation_p.E98K			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	74	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)		p.E74K(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						AACATGCACAGAAGAAGGATG	0.418																																					p.E74K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G220A	1						.						121.0	106.0	111.0					1																	196952176		2203	4300	6503	195218799	SO:0001583	missense	81494	exon2			AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.220G>A	1.37:g.196952176G>A	ENSP00000256785:p.Glu74Lys		195218799	NM_030787	Q2NKK2	Missense_Mutation	SNP	ENST00000256785.4	37	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	.	14.83	2.652513	0.47362	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.64803	-0.12;-0.12	2.45	2.45	0.29901	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	T	0.53190	0.1781	M	0.66297	2.02	0.09310	N	1	B	0.32968	0.392	B	0.33960	0.173	T	0.45877	-0.9231	9	0.06625	T	0.88	.	8.4585	0.32915	0.0:0.0:1.0:0.0	.	74	Q9BXR6	FHR5_HUMAN	K	98;74	ENSP00000356384:E98K;ENSP00000256785:E74K	ENSP00000256785:E74K	E	+	1	0	CFHR5	195218799	0.004000	0.15560	0.064000	0.19789	0.499000	0.33736	0.530000	0.23036	1.679000	0.50963	0.305000	0.20034	GAA		0.418	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787	
ETNK2	55224	broad.mit.edu	37	1	204115853	204115853	+	Silent	SNP	G	G	A	rs139650333		TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr1:204115853G>A	ENST00000367202.4	-	3	708	c.558C>T	c.(556-558)caC>caT	p.H186H	ETNK2_ENST00000367198.2_Silent_p.H8H|ETNK2_ENST00000367201.3_Silent_p.H186H|ETNK2_ENST00000367199.2_Intron	NM_018208.2	NP_060678.2	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	186					glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|placenta development (GO:0001890)|post-embryonic development (GO:0009791)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)	p.H186H(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			TGCCGTTGGCGTGGATAGTAT	0.498																																					p.H186H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C558T	1						.	G		1,4405	2.1+/-5.4	0,1,2202	151.0	129.0	136.0		558	-4.5	0.9	1	dbSNP_134	136	0,8600		0,0,4300	no	coding-synonymous	ETNK2	NM_018208.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		186/387	204115853	1,13005	2203	4300	6503	202382476	SO:0001819	synonymous_variant	55224	exon3			AK001623	CCDS1442.2, CCDS73006.1	1q32.1	2008-02-05			ENSG00000143845	ENSG00000143845			25575	protein-coding gene	gene with protein product		609859				12477932	Standard	XM_005245302		Approved	FLJ10761, EKI2	uc001hao.4	Q9NVF9	OTTHUMG00000036061	ENST00000367202.4:c.558C>T	1.37:g.204115853G>A			202382476	NM_018208	B7Z7K1|Q5SXX5|Q68CK3|Q96G05	Silent	SNP	ENST00000367202.4	37	CCDS1442.2																																																																																				0.498	ETNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087893.1	NM_018208	
C4BPA	722	broad.mit.edu	37	1	207317197	207317197	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr1:207317197G>T	ENST00000367070.3	+	11	1673	c.1479G>T	c.(1477-1479)agG>agT	p.R493S		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	493	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.R493S(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TGAATGGAAGGTTGTCTGTGG	0.408																																					p.R493S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1479T	1						.						228.0	201.0	210.0					1																	207317197		2203	4300	6503	205383820	SO:0001583	missense	722	exon11			M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"""complement component 4-binding protein, alpha"""	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.1479G>T	1.37:g.207317197G>T	ENSP00000356037:p.Arg493Ser		205383820	NM_000715	Q5VVQ8	Missense_Mutation	SNP	ENST00000367070.3	37	CCDS1477.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899890	0.33535	.	.	ENSG00000123838	ENST00000367070	T	0.62941	-0.01	5.29	-1.65	0.08291	Complement control module (2);Sushi/SCR/CCP (3);	2.382820	0.01442	N	0.015128	T	0.50735	0.1633	L	0.33710	1.025	0.09310	N	1	B	0.30973	0.302	B	0.36608	0.229	T	0.22836	-1.0205	10	0.21540	T	0.41	.	4.2713	0.10787	0.2327:0.0:0.3896:0.3777	.	493	P04003	C4BPA_HUMAN	S	493	ENSP00000356037:R493S	ENSP00000356037:R493S	R	+	3	2	C4BPA	205383820	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.153000	0.10144	-0.218000	0.10018	-0.143000	0.13931	AGG		0.408	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3		
AIDA	64853	broad.mit.edu	37	1	222846664	222846664	+	Silent	SNP	A	A	G			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr1:222846664A>G	ENST00000340020.6	-	8	903	c.697T>C	c.(697-699)Tta>Cta	p.L233L	AIDA_ENST00000541237.1_Silent_p.L209L|AIDA_ENST00000355727.2_Intron|AIDA_ENST00000474863.1_5'UTR	NM_022831.2	NP_073742.2	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated	233					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.L233L(1)		kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						CCTTTGGTTAATTTTTCAACA	0.348																																					p.L233L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T697C	1						.						66.0	64.0	65.0					1																	222846664		2203	4299	6502	220913287	SO:0001819	synonymous_variant	64853	exon8			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.697T>C	1.37:g.222846664A>G			220913287	NM_022831	A8K1F0|Q49A81|Q5JRA4|Q658P1|Q9H9E8	Silent	SNP	ENST00000340020.6	37	CCDS1533.1																																																																																				0.348	AIDA-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091818.1	NM_022831	
AGT	183	broad.mit.edu	37	1	230841702	230841702	+	Silent	SNP	G	G	A			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr1:230841702G>A	ENST00000366667.4	-	3	1315	c.1101C>T	c.(1099-1101)aaC>aaT	p.N367N		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	367					activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)	p.N367N(1)		endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TCTTCATCCAGTTGAGGGAGT	0.607																																					p.N367N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1101T	1						.						106.0	113.0	110.0					1																	230841702		2203	4300	6503	228908325	SO:0001819	synonymous_variant	183	exon3			K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"""Serine (or cysteine) peptidase inhibitors"", ""Endogenous ligands"""	333	protein-coding gene	gene with protein product	"""alpha-1 antiproteinase, antitrypsin"""	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.1101C>T	1.37:g.230841702G>A			228908325	NM_000029	Q16358|Q16359|Q96F91	Silent	SNP	ENST00000366667.4	37	CCDS1585.1																																																																																				0.607	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092102.1	NM_000029	
NCDN	23154	broad.mit.edu	37	1	36028080	36028080	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr1:36028080C>T	ENST00000373243.2	+	4	1614	c.1231C>T	c.(1231-1233)Cgt>Tgt	p.R411C	NCDN_ENST00000356090.4_Missense_Mutation_p.R411C|NCDN_ENST00000373253.3_Missense_Mutation_p.R394C	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	411					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)		p.R394C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTCATCCTTGCGTAAGGAGGT	0.622																																					p.R394C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1180T	1						.						149.0	126.0	134.0					1																	36028080		2203	4300	6503	35800667	SO:0001583	missense	23154	exon4			AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.1231C>T	1.37:g.36028080C>T	ENSP00000362340:p.Arg411Cys		35800667	NM_001014841	D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Missense_Mutation	SNP	ENST00000373243.2	37	CCDS392.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325098	0.81580	.	.	ENSG00000020129	ENST00000373253;ENST00000356090;ENST00000373243	T;T;T	0.73789	-0.78;-0.78;-0.78	4.8	4.8	0.61643	.	0.206493	0.40064	N	0.001197	T	0.74129	0.3676	L	0.29908	0.895	0.54753	D	0.99998	D	0.76494	0.999	P	0.58928	0.848	T	0.76493	-0.2939	10	0.87932	D	0	.	10.5618	0.45150	0.2069:0.7931:0.0:0.0	.	411	Q9UBB6	NCDN_HUMAN	C	394;411;411	ENSP00000362350:R394C;ENSP00000348394:R411C;ENSP00000362340:R411C	ENSP00000348394:R411C	R	+	1	0	NCDN	35800667	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.545000	0.67237	2.503000	0.84419	0.561000	0.74099	CGT		0.622	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	NM_014284	
COL24A1	255631	broad.mit.edu	37	1	86426943	86426943	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01			T	-	T	T	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr1:86426943delT	ENST00000370571.2	-	24	2917	c.2551delA	c.(2551-2553)attfs	p.I851fs	COL24A1_ENST00000436319.1_Frame_Shift_Del_p.I851fs	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	851	Collagen-like 5.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.I851fs*15(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GTTTCACCAATTTTTCCAATA	0.294																																					p.I851fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2551delA	1						.						99.0	97.0	97.0					1																	86426943		1801	4057	5858	86199531	SO:0001589	frameshift_variant	255631	exon24			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.2551delA	1.37:g.86426943delT	ENSP00000359603:p.Ile851fs		86199531	NM_152890	C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Frame_Shift_Del	DEL	ENST00000370571.2	37	CCDS41353.1																																																																																				0.294	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890	
MTR	4548	broad.mit.edu	37	1	237048499	237048499	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr1:237048499G>A	ENST00000366577.5	+	26	3149	c.2755G>A	c.(2755-2757)Gac>Aac	p.D919N	MTR_ENST00000535889.1_Missense_Mutation_p.D868N	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	919			D -> G (may be associated with susceptibility to FS-NTD; dbSNP:rs1805087). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9013615}.		cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)	p.D919N(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TATTAGACAGGACCATTATGA	0.318																																					p.D919N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2755A	1						.						93.0	97.0	95.0					1																	237048499		2203	4300	6503	235115122	SO:0001583	missense	4548	exon26			U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.2755G>A	1.37:g.237048499G>A	ENSP00000355536:p.Asp919Asn		235115122	NM_000254	A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	ENST00000366577.5	37	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.070688	0.55539	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889;ENST00000366576	T;T;T	0.70986	-0.53;-0.53;-0.53	5.99	5.99	0.97316	Cobalamin (vitamin B12)-binding (2);	0.149441	0.64402	D	0.000017	T	0.66257	0.2771	L	0.28694	0.88	0.51233	D	0.999917	B;P;B	0.37176	0.159;0.586;0.159	B;B;B	0.39617	0.161;0.305;0.161	T	0.66464	-0.5917	10	0.52906	T	0.07	-19.2895	20.4777	0.99188	0.0:0.0:1.0:0.0	.	919;868;919	B7ZLW8;B7ZLW7;Q99707	.;.;METH_HUMAN	N	773;919;868;473	ENSP00000355536:D919N;ENSP00000441845:D868N;ENSP00000355535:D473N	ENSP00000355535:D473N	D	+	1	0	MTR	235115122	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.034000	0.93747	2.840000	0.97914	0.655000	0.94253	GAC		0.318	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254	
SAA2	6289	broad.mit.edu	37	11	18269473	18269473	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr11:18269473A>C	ENST00000526900.1	-	2	269	c.86T>G	c.(85-87)tTt>tGt	p.F29C	SAA2_ENST00000529528.1_Missense_Mutation_p.F29C|RNA5SP333_ENST00000363466.1_RNA|SAA2_ENST00000528349.1_Missense_Mutation_p.F29C|SAA2_ENST00000530400.1_Missense_Mutation_p.F29C|SAA2_ENST00000256733.4_Missense_Mutation_p.F29C|SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000414546.2_Missense_Mutation_p.F29C			P0DJI9	SAA2_HUMAN	serum amyloid A2	29					acute-phase response (GO:0006953)	extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)		p.F29C(1)		central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						CTTACCATCAAAAGCCTCGCC	0.488																																					p.F29C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T86G	11						.						76.0	74.0	74.0					11																	18269473		2198	4288	6486	18226049	SO:0001583	missense	6289	exon2			M26152	CCDS7833.1, CCDS44548.1	11p15.1-p14	2008-07-21			ENSG00000134339	ENSG00000134339			10514	protein-coding gene	gene with protein product		104751				7686132	Standard	NM_030754		Approved			P0DJI9	OTTHUMG00000166484	ENST00000526900.1:c.86T>G	11.37:g.18269473A>C	ENSP00000436126:p.Phe29Cys		18226049	NM_001199744	G3XAK9|P02735|P02736|P02737|Q16730|Q16834|Q16835|Q16879|Q3KRB3|Q6FG67|Q96QN0|Q9UCK9|Q9UCL0	Missense_Mutation	SNP	ENST00000526900.1	37	CCDS7833.1	.	.	.	.	.	.	.	.	.	.	A	0.319	-0.962951	0.02249	.	.	ENSG00000134339	ENST00000414546;ENST00000530400;ENST00000528349;ENST00000256733;ENST00000529528;ENST00000526900	T;T;T;T;T;T	0.09630	2.96;2.96;2.96;2.96;2.96;2.96	4.2	-8.41	0.00961	.	3.200260	0.01088	N	0.005124	T	0.17916	0.0430	.	.	.	0.37029	D	0.896572	P;P	0.49961	0.93;0.854	P;P	0.56343	0.627;0.796	T	0.60627	-0.7226	9	0.39692	T	0.17	.	2.4066	0.04414	0.437:0.2033:0.075:0.2847	.	29;29	G3XAK9;E9PR14	.;.	C	29	ENSP00000416716:F29C;ENSP00000432370:F29C;ENSP00000435659:F29C;ENSP00000256733:F29C;ENSP00000437162:F29C;ENSP00000436126:F29C	ENSP00000256733:F29C	F	-	2	0	SAA2	18226049	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.648000	0.00107	-5.527000	0.00013	-2.790000	0.00116	TTT		0.488	SAA2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389983.1	NM_030754	
RRP8	23378	broad.mit.edu	37	11	6622595	6622595	+	Missense_Mutation	SNP	C	C	T	rs527676627		TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr11:6622595C>T	ENST00000254605.6	-	3	818	c.701G>A	c.(700-702)cGg>cAg	p.R234Q	ILK_ENST00000528995.1_5'Flank|ILK_ENST00000537806.1_5'Flank|RRP8_ENST00000534343.1_Intron|ILK_ENST00000396751.2_5'Flank|RP11-732A19.8_ENST00000527191.1_RNA|ILK_ENST00000299421.4_5'Flank|ILK_ENST00000420936.2_5'Flank	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	234					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.R234Q(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						AGCCCCTGCCCGAGCCTCATG	0.622																																					p.R234Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G701A	11						.						32.0	33.0	33.0					11																	6622595		2201	4296	6497	6579171	SO:0001583	missense	23378	exon3			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.701G>A	11.37:g.6622595C>T	ENSP00000254605:p.Arg234Gln		6579171	NM_015324	Q7KZ78|Q9BVM6	Missense_Mutation	SNP	ENST00000254605.6	37	CCDS31411.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010133	0.75046	.	.	ENSG00000132275	ENST00000254605;ENST00000533907	T;T	0.46063	1.52;0.88	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.42720	0.1215	L	0.34521	1.04	0.80722	D	1	D	0.64830	0.994	P	0.50825	0.651	T	0.08126	-1.0737	10	0.23302	T	0.38	-17.6516	16.6393	0.85068	0.0:1.0:0.0:0.0	.	234	O43159	RRP8_HUMAN	Q	234	ENSP00000254605:R234Q;ENSP00000436246:R234Q	ENSP00000254605:R234Q	R	-	2	0	RRP8	6579171	0.837000	0.29446	0.637000	0.29366	0.726000	0.41606	1.442000	0.35046	2.702000	0.92279	0.650000	0.86243	CGG		0.622	RRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384505.1	NM_015324	
DPF2	5977	broad.mit.edu	37	11	65119165	65119165	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr11:65119165T>A	ENST00000528416.1	+	11	1244	c.1111T>A	c.(1111-1113)Tgc>Agc	p.C371S	DPF2_ENST00000415073.2_Missense_Mutation_p.C187S|DPF2_ENST00000252268.4_Missense_Mutation_p.C385S	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	371					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)	p.C371S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						AAGTTGGAGCTGCCACCTGTG	0.527																																					p.C371S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1111A	11						.						154.0	145.0	148.0					11																	65119165		2201	4297	6498	64875741	SO:0001583	missense	5977	exon11			U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"""Zinc fingers, PHD-type"""	9964	protein-coding gene	gene with protein product		601671	"""requiem, apoptosis response zinc finger gene"""	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.1111T>A	11.37:g.65119165T>A	ENSP00000436901:p.Cys371Ser		64875741	NM_006268	A8K7C9|B4DT58	Missense_Mutation	SNP	ENST00000528416.1	37	CCDS8100.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.252753	0.80135	.	.	ENSG00000133884	ENST00000528416;ENST00000415073;ENST00000252268;ENST00000531989	D;D;D;D	0.99950	-8.73;-8.73;-8.73;-8.73	5.06	5.06	0.68205	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.41194	D	0.000922	D	0.99966	0.9987	H	0.99820	4.81	0.80722	D	1	D;D	0.61697	0.968;0.99	D;D	0.91635	0.966;0.999	D	0.96364	0.9268	10	0.87932	D	0	-22.1382	12.7743	0.57439	0.0:0.0:0.0:1.0	.	187;371	B4DT58;Q92785	.;REQU_HUMAN	S	371;187;385;96	ENSP00000436901:C371S;ENSP00000399714:C187S;ENSP00000252268:C385S;ENSP00000435887:C96S	ENSP00000252268:C385S	C	+	1	0	DPF2	64875741	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.823000	0.86660	1.903000	0.55091	0.454000	0.30748	TGC		0.527	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387293.3	NM_006268	
IGHMBP2	3508	broad.mit.edu	37	11	68707026	68707026	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr11:68707026C>T	ENST00000255078.3	+	15	2920	c.2809C>T	c.(2809-2811)Cgc>Tgc	p.R937C	RP11-757G1.5_ENST00000542410.1_RNA	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	937					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)	p.R937C(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TGAGAGGGCTCGCGCCCATGC	0.637																																					p.R937C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2809T	11						.						28.0	33.0	31.0					11																	68707026		2200	4293	6493	68463602	SO:0001583	missense	3508	exon15			L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.2809C>T	11.37:g.68707026C>T	ENSP00000255078:p.Arg937Cys		68463602	NM_002180	A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	ENST00000255078.3	37	CCDS8187.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230146	0.58777	.	.	ENSG00000132740	ENST00000255078	T	0.45276	0.9	4.54	4.54	0.55810	Zinc finger, AN1-type (4);	0.536223	0.20003	N	0.101289	T	0.57873	0.2083	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.60622	-0.7227	10	0.87932	D	0	-12.3199	10.1715	0.42913	0.3243:0.6756:0.0:0.0	.	937	P38935	SMBP2_HUMAN	C	937	ENSP00000255078:R937C	ENSP00000255078:R937C	R	+	1	0	IGHMBP2	68463602	0.995000	0.38212	0.373000	0.26003	0.582000	0.36321	4.743000	0.62110	2.054000	0.61138	0.491000	0.48974	CGC		0.637	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180	
CCDC81	60494	broad.mit.edu	37	11	86126222	86126222	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr11:86126222G>T	ENST00000445632.2	+	13	1830	c.1558G>T	c.(1558-1560)Gaa>Taa	p.E520*	CCDC81_ENST00000278487.3_Nonsense_Mutation_p.E255*|CCDC81_ENST00000528728.1_Nonsense_Mutation_p.E255*|CCDC81_ENST00000354755.1_Nonsense_Mutation_p.E430*	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	520								p.E430*(1)		kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				ACTGATGGTGGAAAAGCAAAA	0.488																																					p.E430X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1288T	11						.						71.0	68.0	69.0					11																	86126222		2202	4299	6501	85803870	SO:0001587	stop_gained	60494	exon12			AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201			26281	protein-coding gene	gene with protein product							Standard	NM_001156474		Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	ENST00000445632.2:c.1558G>T	11.37:g.86126222G>T	ENSP00000415528:p.Glu520*		85803870	NM_021827	A0AVL7|Q53FW3|Q9H5E5	Nonsense_Mutation	SNP	ENST00000445632.2	37	CCDS53691.1	.	.	.	.	.	.	.	.	.	.	G	46	12.113861	0.99637	.	.	ENSG00000149201	ENST00000354755;ENST00000278487;ENST00000445632;ENST00000528728	.	.	.	5.59	4.67	0.58626	.	0.431103	0.23365	N	0.048962	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.3586	15.3419	0.74303	0.0:0.1408:0.8592:0.0	.	.	.	.	X	430;255;520;255	.	.	E	+	1	0	CCDC81	85803870	0.916000	0.31088	0.009000	0.14445	0.009000	0.06853	2.330000	0.43885	1.327000	0.45338	0.650000	0.86243	GAA		0.488	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393756.1	NM_021827	
NEDD9	4739	broad.mit.edu	37	6	11191373	11191373	+	Silent	SNP	G	G	A			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr6:11191373G>A	ENST00000379446.5	-	5	895	c.729C>T	c.(727-729)ttC>ttT	p.F243F	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Silent_p.F243F	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	243					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.F243F(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)			TGGGAGGGGGGAAGTCATAGT	0.527																																					p.F243F												.	.	4	Substitution - coding silent(4)	large_intestine(4)	c.C729T	6						.						48.0	46.0	47.0					6																	11191373		2203	4297	6500	11299359	SO:0001819	synonymous_variant	4739	exon5			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.729C>T	6.37:g.11191373G>A			11299359	NM_006403	A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Silent	SNP	ENST00000379446.5	37	CCDS4520.1																																																																																				0.527	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039853.2	NM_006403	
AKAP7	9465	broad.mit.edu	37	6	131481239	131481239	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr6:131481239A>C	ENST00000431975.2	+	3	290	c.192A>C	c.(190-192)gaA>gaC	p.E64D	AKAP7_ENST00000541650.1_Missense_Mutation_p.E63D|AKAP7_ENST00000368123.4_Missense_Mutation_p.E42D|AKAP7_ENST00000366358.2_3'UTR	NM_016377.3	NP_057461.2	Q9P0M2	AKA7G_HUMAN	A kinase (PRKA) anchor protein 7	64						cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|nucleotide binding (GO:0000166)|protein kinase A binding (GO:0051018)	p.E42D(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		GAAGTCAAGAAAATGAATGGG	0.328																																					p.E42D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A126C	6						.						52.0	51.0	51.0					6																	131481239		2203	4296	6499	131522932	SO:0001583	missense	9465	exon2			AF047715	CCDS5142.1, CCDS5143.1, CCDS5144.1, CCDS5142.2	6q23.2	2012-10-24			ENSG00000118507	ENSG00000118507		"""A-kinase anchor proteins"""	377	protein-coding gene	gene with protein product		604693				9545239	Standard	NM_016377		Approved	AKAP18, AKAP15	uc003qck.4	O43687	OTTHUMG00000015563	ENST00000431975.2:c.192A>C	6.37:g.131481239A>C	ENSP00000405252:p.Glu64Asp		131522932	NM_016377	B4DUC3|Q9HCZ8	Missense_Mutation	SNP	ENST00000431975.2	37	CCDS5142.2	.	.	.	.	.	.	.	.	.	.	A	10.56	1.383596	0.25031	.	.	ENSG00000118507	ENST00000431975;ENST00000541650;ENST00000368123	T;T;T	0.33865	1.41;1.39;1.42	5.32	4.14	0.48551	RNA ligase/cyclic nucleotide phosphodiesterase (1);Protein kinase A anchor protein, nuclear localisation signal domain (1);	0.352423	0.29572	N	0.011763	T	0.16642	0.0400	L	0.57536	1.79	0.27318	N	0.957121	B	0.13145	0.007	B	0.12156	0.007	T	0.15694	-1.0428	10	0.46703	T	0.11	-9.5975	9.6537	0.39912	0.8249:0.1751:0.0:0.0	.	64	Q9P0M2	AKA7G_HUMAN	D	64;63;42	ENSP00000405252:E64D;ENSP00000441048:E63D;ENSP00000357105:E42D	ENSP00000357105:E42D	E	+	3	2	AKAP7	131522932	1.000000	0.71417	0.958000	0.39756	0.242000	0.25591	2.627000	0.46469	0.950000	0.37743	0.528000	0.53228	GAA		0.328	AKAP7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042209.2	NM_004842	
MICB	4277	broad.mit.edu	37	6	31474096	31474096	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr6:31474096T>A	ENST00000252229.6	+	3	581	c.502T>A	c.(502-504)Ttc>Atc	p.F168I	MICB_ENST00000399150.3_Missense_Mutation_p.F125I|MICB_ENST00000538442.1_Missense_Mutation_p.F136I	NM_005931.3	NP_005922.2			MHC class I polypeptide-related sequence B									p.F168I(2)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						CGTCACAAATTTCTGGAAGGA	0.522																																					p.F168I												.	.	2	Substitution - Missense(2)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	c.T502A	6						.						82.0	82.0	82.0					6																	31474096		1957	4148	6105	31582075	SO:0001583	missense	4277	exon3				CCDS43449.1, CCDS75422.1, CCDS75423.1	6p21.3	2013-01-11			ENSG00000204516	ENSG00000204516		"""Immunoglobulin superfamily / C1-set domain containing"""	7091	protein-coding gene	gene with protein product		602436				8022771	Standard	NM_005931		Approved	PERB11.2	uc003ntn.4	Q29980	OTTHUMG00000031074	ENST00000252229.6:c.502T>A	6.37:g.31474096T>A	ENSP00000252229:p.Phe168Ile		31582075	NM_005931		Missense_Mutation	SNP	ENST00000252229.6	37	CCDS43449.1	.	.	.	.	.	.	.	.	.	.	N	7.034	0.561202	0.13498	.	.	ENSG00000204516	ENST00000538442;ENST00000399150;ENST00000252229	T;T;T	0.01584	5.84;4.75;5.84	1.43	-1.8	0.07907	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	3.344840	0.01465	U	0.016045	T	0.00815	0.0027	L	0.38175	1.15	0.09310	N	1	P;B;B	0.46064	0.872;0.048;0.074	P;B;B	0.46144	0.505;0.041;0.048	T	0.34329	-0.9833	10	0.52906	T	0.07	.	2.1699	0.03846	0.2898:0.0:0.294:0.4162	.	136;125;168	F5H7Q8;A2AC57;Q29980	.;.;MICB_HUMAN	I	136;125;168	ENSP00000442345:F136I;ENSP00000382103:F125I;ENSP00000252229:F168I	ENSP00000252229:F168I	F	+	1	0	MICB	31582075	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.876000	0.00717	-0.483000	0.06772	-0.973000	0.02599	TTC		0.522	MICB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076102.3	NM_005931	
IL17A	3605	broad.mit.edu	37	6	52052534	52052534	+	Missense_Mutation	SNP	G	G	A	rs201890924		TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr6:52052534G>A	ENST00000340057.1	+	2	206	c.161G>A	c.(160-162)cGg>cAg	p.R54Q		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	54					apoptotic process (GO:0006915)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|fibroblast activation (GO:0072537)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein glycosylation (GO:0006486)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)	p.R54L(1)|p.R54Q(1)		endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					ATCCATAACCGGAATACCAAT	0.458																																					p.R54Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G161A	6						.						173.0	154.0	160.0					6																	52052534		2203	4300	6503	52160493	SO:0001583	missense	3605	exon2			U32659	CCDS4937.1	6p12	2011-07-14	2006-04-26	2006-04-26	ENSG00000112115	ENSG00000112115		"""Interleukins and interleukin receptors"""	5981	protein-coding gene	gene with protein product	"""cytotoxic T-lymphocyte-associated protein 8"""	603149	"""interleukin 17 (cytotoxic T-lymphocyte-associated serine esterase 8)"""	CTLA8, IL17		8390535	Standard	NM_002190		Approved	IL-17A, IL-17	uc003pak.1	Q16552	OTTHUMG00000014840	ENST00000340057.1:c.161G>A	6.37:g.52052534G>A	ENSP00000344192:p.Arg54Gln		52160493	NM_002190	Q5T2P0	Missense_Mutation	SNP	ENST00000340057.1	37	CCDS4937.1	.	.	.	.	.	.	.	.	.	.	G	8.928	0.962627	0.18583	.	.	ENSG00000112115	ENST00000340057	T	0.55234	0.53	5.58	-0.437	0.12272	.	1.269480	0.05223	N	0.508931	T	0.17195	0.0413	L	0.60455	1.87	0.09310	N	1	B	0.17852	0.024	B	0.04013	0.001	T	0.05699	-1.0869	10	0.09843	T	0.71	-2.6974	1.7392	0.02948	0.3627:0.2797:0.2457:0.1119	.	54	Q16552	IL17_HUMAN	Q	54	ENSP00000344192:R54Q	ENSP00000344192:R54Q	R	+	2	0	IL17A	52160493	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	-0.077000	0.11394	-0.452000	0.07087	0.561000	0.74099	CGG		0.458	IL17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040892.1	NM_002190	
FAM135A	57579	broad.mit.edu	37	6	71212449	71212449	+	Missense_Mutation	SNP	C	C	G	rs202084380		TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr6:71212449C>G	ENST00000418814.2	+	12	1598	c.984C>G	c.(982-984)caC>caG	p.H328Q	FAM135A_ENST00000361499.3_Missense_Mutation_p.H328Q|FAM135A_ENST00000457062.2_Missense_Mutation_p.H311Q|FAM135A_ENST00000505868.1_Missense_Mutation_p.H328Q|FAM135A_ENST00000370479.3_Missense_Mutation_p.H311Q|FAM135A_ENST00000505769.1_Missense_Mutation_p.H328Q	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	328								p.H311Q(1)		breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TAACGCTACACGAAGAACTAA	0.348																																					p.H328Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C984G	6						.						136.0	139.0	138.0					6																	71212449		2203	4300	6503	71269170	SO:0001583	missense	57579	exon10			AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.984C>G	6.37:g.71212449C>G	ENSP00000410768:p.His328Gln		71269170	NM_001162529	A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	37	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.270017	0.23221	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000515323;ENST00000457062;ENST00000361499;ENST00000505868	D;D;D;D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37;-2.37;-2.37	5.77	1.93	0.25924	.	0.154856	0.64402	D	0.000015	T	0.38983	0.1061	N	0.00707	-1.245	0.27406	N	0.954727	B;B;B;B;B;B	0.14805	0.004;0.011;0.001;0.011;0.004;0.007	B;B;B;B;B;B	0.15870	0.004;0.013;0.005;0.014;0.006;0.006	T	0.46275	-0.9203	10	0.21540	T	0.41	.	1.4293	0.02330	0.3316:0.09:0.1272:0.4512	.	85;328;328;328;328;311	Q5JXJ9;Q9P2D6-4;D6RC17;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;.;.;F135A_HUMAN;.;.	Q	328;311;328;328;311;328;328	ENSP00000410768:H328Q;ENSP00000359510:H311Q;ENSP00000423785:H328Q;ENSP00000422406:H328Q;ENSP00000409201:H311Q;ENSP00000354913:H328Q;ENSP00000423307:H328Q	ENSP00000354913:H328Q	H	+	3	2	FAM135A	71269170	0.999000	0.42202	1.000000	0.80357	0.942000	0.58702	0.535000	0.23114	1.011000	0.39340	-0.290000	0.09829	CAC		0.348	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819	
SYNJ2	8871	broad.mit.edu	37	6	158495722	158495722	+	Silent	SNP	G	G	A			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr6:158495722G>A	ENST00000355585.4	+	16	2319	c.2244G>A	c.(2242-2244)aaG>aaA	p.K748K	SYNJ2_ENST00000367122.2_Silent_p.K748K|SYNJ2_ENST00000367121.3_Silent_p.K748K|SYNJ2_ENST00000367112.1_5'Flank	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	748					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.K748K(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AAGACTGGAAGAAACTTCTGG	0.348																																					p.K748K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2244A	6						.						87.0	82.0	84.0					6																	158495722		2203	4300	6503	158415710	SO:0001819	synonymous_variant	8871	exon16			AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.2244G>A	6.37:g.158495722G>A			158415710	NM_003898	Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Silent	SNP	ENST00000355585.4	37	CCDS5254.1																																																																																				0.348	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2		
UBB	7314	broad.mit.edu	37	17	16285609	16285609	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr17:16285609C>T	ENST00000395837.1	+	2	569	c.388C>T	c.(388-390)Cgc>Tgc	p.R130C	UBB_ENST00000535788.1_Intron|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395839.1_Missense_Mutation_p.R130C|UBB_ENST00000578649.1_Intron|UBB_ENST00000302182.3_Missense_Mutation_p.R130C	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	130	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		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 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)|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)|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)|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)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)		p.R130C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		GGAAGATGGCCGCACTCTTTC	0.542																																					p.R130C	Melanoma(163;1126 3406 34901)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C388T	17						.						82.0	82.0	82.0					17																	16285609		2203	4300	6503	16226334	SO:0001583	missense	7314	exon2				CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.388C>T	17.37:g.16285609C>T	ENSP00000379178:p.Arg130Cys		16226334	NM_018955	P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000395837.1	37	CCDS11177.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539141	0.45176	.	.	ENSG00000170315	ENST00000302182;ENST00000395839;ENST00000395837	T;T;T	0.74421	-0.84;-0.84;-0.84	4.13	4.13	0.48395	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.53938	U	0.000060	T	0.71804	0.3383	M	0.67700	2.07	0.80722	D	1	B	0.32338	0.365	B	0.27608	0.081	T	0.76825	-0.2816	10	0.87932	D	0	.	15.8221	0.78662	0.0:1.0:0.0:0.0	.	130	P0CG47	UBB_HUMAN	C	130	ENSP00000304697:R130C;ENSP00000379180:R130C;ENSP00000379178:R130C	ENSP00000304697:R130C	R	+	1	0	UBB	16226334	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	6.949000	0.75971	2.043000	0.60533	0.644000	0.83932	CGC		0.542	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955	
SREBF1	6720	broad.mit.edu	37	17	17720323	17720323	+	Silent	SNP	G	G	A	rs142128892		TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr17:17720323G>A	ENST00000261646.5	-	9	1918	c.1734C>T	c.(1732-1734)ccC>ccT	p.P578P	SREBF1_ENST00000583732.1_5'Flank|SREBF1_ENST00000338854.5_Silent_p.P578P|SREBF1_ENST00000395757.1_Silent_p.P324P|SREBF1_ENST00000355815.4_Silent_p.P608P	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	578					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)	p.P608P(1)		cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						AGTACACGGCGGGGCCTGAGT	0.662																																					p.P608P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1824T	17						.	G	,	1,4405	2.1+/-5.4	0,1,2202	50.0	58.0	55.0		1824,1734	-2.9	0.7	17	dbSNP_134	55	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SREBF1	NM_001005291.2,NM_004176.4	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	608/1178,578/1148	17720323	2,13004	2203	4300	6503	17661048	SO:0001819	synonymous_variant	6720	exon10			BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"""Basic helix-loop-helix proteins"""	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.1734C>T	17.37:g.17720323G>A			17661048	NM_001005291	B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Silent	SNP	ENST00000261646.5	37	CCDS11189.1	.	.	.	.	.	.	.	.	.	.	G	5.034	0.191973	0.09547	2.27E-4	1.16E-4	ENSG00000072310	ENST00000395751	.	.	.	5.32	-2.94	0.05581	.	.	.	.	.	T	0.39226	0.1070	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27640	-1.0068	4	.	.	.	-24.5522	2.1224	0.03729	0.4653:0.1305:0.2784:0.1258	.	.	.	.	C	586	.	.	R	-	1	0	SREBF1	17661048	0.000000	0.05858	0.672000	0.29872	0.262000	0.26303	-4.486000	0.00226	-0.902000	0.03886	-0.258000	0.10820	CGC		0.662	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176	
TP53	7157	broad.mit.edu	37	17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	rs121913344		TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr17:7577022G>A	ENST00000269305.4	-	8	1105	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R306*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	306	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGCTTACCTCGCTTAGTGCTC	0.562	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											p.R306X	Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	TP53,large_intestine,rectum,Substitution - Nonsense,0	.	147	Substitution - Nonsense(133)|Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	large_intestine(39)|breast(21)|upper_aerodigestive_tract(15)|ovary(11)|central_nervous_system(10)|oesophagus(10)|stomach(8)|lung(8)|endometrium(6)|bone(4)|pancreas(3)|haematopoietic_and_lymphoid_tissue(3)|biliary_tract(3)|kidney(2)|NS(2)|urinary_tract(1)|liver(1)	c.C916T	17	GRCh37	CM971506	TP53	M	rs121913344	.						120.0	106.0	110.0					17																	7577022		2203	4300	6503	7517747	SO:0001587	stop_gained	7157	exon8	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.916C>T	17.37:g.7577022G>A	ENSP00000269305:p.Arg306*		7517747	NM_001126114	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782988	0.90282	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	3.21	0.36854	.	1.348720	0.05032	N	0.474808	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4785	0.44678	0.0:0.0:0.6334:0.3666	.	.	.	.	X	306;306;306;306;306;295;174	.	ENSP00000269305:R306X	R	-	1	2	TP53	7517747	1.000000	0.71417	0.970000	0.41538	0.345000	0.29048	2.280000	0.43443	0.735000	0.32537	0.561000	0.74099	CGA		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
CALCOCO2	10241	broad.mit.edu	37	17	46919164	46919164	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr17:46919164A>G	ENST00000258947.3	+	2	196	c.95A>G	c.(94-96)tAc>tGc	p.Y32C	CALCOCO2_ENST00000416445.2_Missense_Mutation_p.Y32C|CALCOCO2_ENST00000508679.1_Intron|CALCOCO2_ENST00000448105.2_Missense_Mutation_p.Y32C|CALCOCO2_ENST00000509507.1_Missense_Mutation_p.Y32C	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	32					response to interferon-gamma (GO:0034341)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)	p.Y32C(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						GAGAAGTTCTACATCCCTGGA	0.468																																					p.Y32C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A95G	17						.						173.0	148.0	156.0					17																	46919164		2203	4300	6503	44274163	SO:0001583	missense	10241	exon2			BC004130	CCDS11538.1, CCDS58558.1, CCDS58559.1, CCDS58560.1, CCDS58561.1	17q21.32	2006-02-09				ENSG00000136436			29912	protein-coding gene	gene with protein product		604587				7540613	Standard	NM_001261390		Approved	MGC17318, NDP52	uc010wlr.3	Q13137		ENST00000258947.3:c.95A>G	17.37:g.46919164A>G	ENSP00000258947:p.Tyr32Cys		44274163	NM_005831	B2RBT0|B4DDC4|B4DDT4|B4DP36|B4E0C0|E7ENK0|E7ETP5|E9PBE5|Q53FQ5|Q53HB5|Q6IBN9|Q9BTF7	Missense_Mutation	SNP	ENST00000258947.3	37	CCDS11538.1	.	.	.	.	.	.	.	.	.	.	A	16.49	3.136745	0.56936	.	.	ENSG00000136436	ENST00000258947;ENST00000509507;ENST00000448105;ENST00000509415;ENST00000416445;ENST00000505071;ENST00000502761	T;T;T;T;T;T;T	0.37915	2.02;1.17;1.3;2.02;2.02;2.02;2.02	6.07	5.0	0.66597	.	0.111470	0.40728	N	0.001027	T	0.53351	0.1791	M	0.72894	2.215	0.80722	D	1	P;P;P;P	0.50156	0.589;0.77;0.922;0.932	B;P;P;P	0.57244	0.29;0.5;0.623;0.816	T	0.56571	-0.7957	10	0.87932	D	0	-13.5035	11.9689	0.53051	0.9319:0.0:0.0681:0.0	.	32;32;32;32	E7ETP5;B4DP36;E9PBE5;Q13137	.;.;.;CACO2_HUMAN	C	32	ENSP00000258947:Y32C;ENSP00000424352:Y32C;ENSP00000398523:Y32C;ENSP00000425692:Y32C;ENSP00000406974:Y32C;ENSP00000422697:Y32C;ENSP00000424889:Y32C	ENSP00000258947:Y32C	Y	+	2	0	CALCOCO2	44274163	0.999000	0.42202	0.813000	0.32504	0.982000	0.71751	4.244000	0.58728	1.114000	0.41781	0.533000	0.62120	TAC		0.468	CALCOCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360866.1	NM_005831	
CBX4	8535	broad.mit.edu	37	17	77808886	77808886	+	Silent	SNP	G	G	A			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr17:77808886G>A	ENST00000269397.4	-	5	732	c.555C>T	c.(553-555)tgC>tgT	p.C185C	CBX4_ENST00000448310.1_3'UTR	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	185	Interaction with BMI1.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.C185C(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCAGGTCCGGGCAGGTGGGGC	0.701											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.C185C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C555T	17						.						40.0	44.0	42.0					17																	77808886		2202	4298	6500	75423481	SO:0001819	synonymous_variant	8535	exon5			AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"""NS5ATP1-binding protein 16"", ""Pc class 2 homolog (Drosophila)"""	603079	"""chromobox homolog 4 (Drosophila Pc class)"""			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.555C>T	17.37:g.77808886G>A		1178	75423481	NM_003655	B1PJR7|Q6TPI8|Q96C04	Silent	SNP	ENST00000269397.4	37	CCDS32758.1																																																																																				0.701	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318007.1	NM_003655	
BRWD1	54014	broad.mit.edu	37	21	40610476	40610476	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr21:40610476T>G	ENST00000333229.2	-	22	2832	c.2505A>C	c.(2503-2505)gaA>gaC	p.E835D	BRWD1_ENST00000342449.3_Missense_Mutation_p.E835D|BRWD1_ENST00000380800.3_Missense_Mutation_p.E835D	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	835					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E835D(2)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AACCAGAACCTTCACTCTGAT	0.383																																					p.E835D	Melanoma(170;988 1986 4794 16843 39731)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2505C	21						.						135.0	124.0	128.0					21																	40610476		2203	4300	6503	39532346	SO:0001583	missense	54014	exon22			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.2505A>C	21.37:g.40610476T>G	ENSP00000330753:p.Glu835Asp		39532346	NM_033656	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	T	12.89	2.074365	0.36566	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.59224	0.28;0.31;0.39	5.18	2.7	0.31948	.	0.259165	0.33813	N	0.004540	T	0.43656	0.1257	L	0.49126	1.545	0.80722	D	1	B;B;B	0.15141	0.012;0.003;0.007	B;B;B	0.12837	0.008;0.004;0.005	T	0.20638	-1.0269	10	0.20519	T	0.43	-15.0503	4.7199	0.12913	0.0:0.1431:0.206:0.6509	.	502;835;835	Q5R2U6;Q9NSI6-2;Q9NSI6	.;.;BRWD1_HUMAN	D	835	ENSP00000330753:E835D;ENSP00000344333:E835D;ENSP00000370178:E835D	ENSP00000330753:E835D	E	-	3	2	BRWD1	39532346	0.998000	0.40836	1.000000	0.80357	0.983000	0.72400	0.494000	0.22467	0.865000	0.35603	0.482000	0.46254	GAA		0.383	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656	
GPR139	124274	broad.mit.edu	37	16	20043133	20043133	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr16:20043133G>A	ENST00000570682.1	-	2	1286	c.986C>T	c.(985-987)cCg>cTg	p.P329L		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	329					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)	p.P329L(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TGAGTTTGCCGGCGAGATCCA	0.473																																					p.P329L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C986T	16						.						168.0	161.0	163.0					16																	20043133		2203	4300	6503	19950634	SO:0001583	missense	124274	exon2			AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.986C>T	16.37:g.20043133G>A	ENSP00000458791:p.Pro329Leu		19950634	NM_001002911	A8K5R9|Q86SP2|Q8TDU8	Missense_Mutation	SNP	ENST00000570682.1	37	CCDS32398.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.975336	0.74360	.	.	ENSG00000180269	ENST00000326571	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.64659	0.2618	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.68465	-0.5401	9	0.59425	D	0.04	-17.9077	18.4466	0.90686	0.0:0.0:1.0:0.0	.	329	Q6DWJ6	GP139_HUMAN	L	329	.	ENSP00000370779:P329L	P	-	2	0	GPR139	19950634	1.000000	0.71417	0.229000	0.23960	0.939000	0.58152	9.471000	0.97696	2.581000	0.87130	0.655000	0.94253	CCG		0.473	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911	
TMEM43	79188	broad.mit.edu	37	3	14180741	14180741	+	Missense_Mutation	SNP	G	G	C			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr3:14180741G>C	ENST00000306077.4	+	11	1198	c.944G>C	c.(943-945)gGc>gCc	p.G315A	RP11-434D12.1_ENST00000601399.1_3'UTR|RP11-434D12.1_ENST00000608606.1_Missense_Mutation_p.W60C	NM_024334.2	NP_077310.1	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	315					nuclear membrane organization (GO:0071763)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.G315A(1)		breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						CGGGCAGCTGGCTGGATGGCC	0.592																																					p.G315A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G944C	3						.						113.0	99.0	104.0					3																	14180741		2203	4300	6503	14155742	SO:0001583	missense	79188	exon11			BC008054	CCDS2618.1	3p25.1	2014-09-17			ENSG00000170876	ENSG00000170876			28472	protein-coding gene	gene with protein product		612048	"""arrhythmogenic right ventricular dysplasia 5"""	ARVD5		11230166, 18313022	Standard	NM_024334		Approved	MGC3222, DKFZp586G1919, LUMA	uc003byk.2	Q9BTV4	OTTHUMG00000129802	ENST00000306077.4:c.944G>C	3.37:g.14180741G>C	ENSP00000303992:p.Gly315Ala		14155742	NM_024334	Q7L4N5|Q8NC30|Q96A63|Q96F19|Q96JX0|Q9H076	Missense_Mutation	SNP	ENST00000306077.4	37	CCDS2618.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283815	0.80803	.	.	ENSG00000170876	ENST00000306077	T	0.62639	0.01	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.78704	0.4325	M	0.71871	2.18	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.77822	-0.2445	10	0.40728	T	0.16	-29.7745	18.8558	0.92251	0.0:0.0:1.0:0.0	.	315	Q9BTV4	TMM43_HUMAN	A	315	ENSP00000303992:G315A	ENSP00000303992:G315A	G	+	2	0	TMEM43	14155742	1.000000	0.71417	0.995000	0.50966	0.703000	0.40648	9.165000	0.94761	2.448000	0.82819	0.305000	0.20034	GGC		0.592	TMEM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252030.2	NM_024334	
BFSP2	8419	broad.mit.edu	37	3	133167379	133167379	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr3:133167379A>C	ENST00000302334.2	+	3	708	c.619A>C	c.(619-621)Aac>Cac	p.N207H	BFSP2-AS1_ENST00000515542.1_RNA	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	207	Rod.				cell maturation (GO:0048469)|intermediate filament cytoskeleton organization (GO:0045104)|lens fiber cell development (GO:0070307)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)	p.N207H(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						AGAGGAAATTAACTCTCTGTA	0.363																																					p.N207H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A619C	3						.						61.0	64.0	63.0					3																	133167379		2203	4300	6503	134650069	SO:0001583	missense	8419	exon3			U48224	CCDS33859.1	3q22.1	2013-01-16			ENSG00000170819	ENSG00000170819		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1041	protein-coding gene	gene with protein product		603212					Standard	NM_003571		Approved	CP47, CP49, LIFL-L, phakinin	uc003epn.1	Q13515	OTTHUMG00000159719	ENST00000302334.2:c.619A>C	3.37:g.133167379A>C	ENSP00000304987:p.Asn207His		134650069	NM_003571	Q14D32|Q9HBW5	Missense_Mutation	SNP	ENST00000302334.2	37	CCDS33859.1	.	.	.	.	.	.	.	.	.	.	A	11.67	1.709173	0.30322	.	.	ENSG00000170819	ENST00000302334	D	0.89270	-2.49	5.17	5.17	0.71159	Filament (1);	0.400171	0.23310	N	0.049569	D	0.89100	0.6619	L	0.45051	1.395	0.32071	N	0.594417	P	0.48911	0.917	P	0.53988	0.739	D	0.90280	0.4314	10	0.51188	T	0.08	-3.6609	11.0678	0.47985	0.8448:0.1552:0.0:0.0	.	207	Q13515	BFSP2_HUMAN	H	207	ENSP00000304987:N207H	ENSP00000304987:N207H	N	+	1	0	BFSP2	134650069	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	3.711000	0.54868	1.960000	0.56953	0.454000	0.30748	AAC		0.363	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357031.1		
EIF4A2	1974	broad.mit.edu	37	3	186506930	186506930	+	Missense_Mutation	SNP	C	C	G			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr3:186506930C>G	ENST00000323963.5	+	11	1160	c.1096C>G	c.(1096-1098)Cga>Gga	p.R366G	SNORA63_ENST00000363450.1_RNA|EIF4A2_ENST00000356531.5_Missense_Mutation_p.R271G|SNORA4_ENST00000584302.1_RNA|EIF4A2_ENST00000440191.2_Missense_Mutation_p.R367G|SNORA63_ENST00000363548.1_RNA|SNORA81_ENST00000408493.2_RNA			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	366	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|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)|regulation of translational initiation (GO:0006446)|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)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)	p.R366G(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		CAGAGGGGGTCGATTTGGGAG	0.403			T	BCL6	NHL																																p.R366G			Dom	yes		3	3q27.3	1974	"""eukaryotic translation initiation factor 4A, isoform 2"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1096G	3						.						136.0	143.0	141.0					3																	186506930		2203	4300	6503	187989624	SO:0001583	missense	1974	exon11			D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"""DEAD-boxes"""	3284	protein-coding gene	gene with protein product		601102	"""eukaryotic translation initiation factor 4A, isoform 2"""	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.1096C>G	3.37:g.186506930C>G	ENSP00000326381:p.Arg366Gly		187989624	NM_001967	D3DNU9|Q53XJ6|Q96B90|Q96EA8	Missense_Mutation	SNP	ENST00000323963.5	37	CCDS3282.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362544	0.61403	.	.	ENSG00000156976	ENST00000323963;ENST00000440191;ENST00000356531	D;D;D	0.94793	-3.52;-3.52;-3.52	5.87	5.87	0.94306	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.98592	0.9529	H	0.98786	4.33	0.80722	D	1	D;D;D	0.89917	0.983;0.998;1.0	D;D;D	0.79784	0.929;0.989;0.993	D	0.99264	1.0891	10	0.87932	D	0	-26.5244	18.0718	0.89410	0.0:1.0:0.0:0.0	.	271;367;366	Q9NZE6;Q14240-2;Q14240	.;.;IF4A2_HUMAN	G	366;367;271	ENSP00000326381:R366G;ENSP00000398370:R367G;ENSP00000348925:R271G	ENSP00000326381:R366G	R	+	1	2	EIF4A2	187989624	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.335000	0.79234	2.941000	0.99782	0.655000	0.94253	CGA		0.403	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344609.1	NM_001967	
TBX3	6926	broad.mit.edu	37	12	115118830	115118830	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr12:115118830T>G	ENST00000257566.3	-	2	900	c.511A>C	c.(511-513)Atg>Ctg	p.M171L	TBX3_ENST00000349155.2_Missense_Mutation_p.M171L	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	171					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|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)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M171L(1)		breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CCAGCCACCATCCACCGAGAA	0.463																																					p.M171L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A511C	12						.						112.0	112.0	112.0					12																	115118830		2203	4300	6503	113603213	SO:0001583	missense	6926	exon2			BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.511A>C	12.37:g.115118830T>G	ENSP00000257566:p.Met171Leu		113603213	NM_005996	Q8TB20|Q9UKF8	Missense_Mutation	SNP	ENST00000257566.3	37	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.000418	0.93227	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.88741	-2.42;-2.42	5.81	5.81	0.92471	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.89553	0.6748	L	0.28344	0.845	0.80722	D	1	B;B;B	0.32188	0.012;0.293;0.359	B;B;P	0.50934	0.031;0.319;0.654	D	0.88569	0.3128	10	0.44086	T	0.13	.	15.352	0.74396	0.0:0.0:0.0:1.0	.	171;171;171	B4E3A6;O15119-2;O15119	.;.;TBX3_HUMAN	L	171	ENSP00000257567:M171L;ENSP00000257566:M171L	ENSP00000257566:M171L	M	-	1	0	TBX3	113603213	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.698000	0.84413	2.225000	0.72522	0.533000	0.62120	ATG		0.463	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996	
SRRM4	84530	broad.mit.edu	37	12	119583287	119583287	+	Silent	SNP	G	G	C	rs367777055		TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr12:119583287G>C	ENST00000267260.4	+	9	1261	c.873G>C	c.(871-873)acG>acC	p.T291T		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	291	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)	p.T291T(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GAAATGACACGTCCTCGCCAC	0.632																																					p.T291T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G873C	12						.						32.0	37.0	35.0					12																	119583287		2003	4159	6162	118067670	SO:0001819	synonymous_variant	84530	exon9			AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.873G>C	12.37:g.119583287G>C			118067670	NM_194286	A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Silent	SNP	ENST00000267260.4	37	CCDS44994.1																																																																																				0.632	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286	
SLCO1C1	53919	broad.mit.edu	37	12	20870141	20870141	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr12:20870141T>C	ENST00000266509.2	+	7	1120	c.752T>C	c.(751-753)gTt>gCt	p.V251A	SLCO1C1_ENST00000545102.1_Missense_Mutation_p.V133A|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.V202A|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.V251A|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.V251A	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	251					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.V251A(1)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	AAACTATATGTTGACATTGGC	0.343																																					p.V251A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T752C	12						.						189.0	171.0	177.0					12																	20870141		2203	4300	6503	20761408	SO:0001583	missense	53919	exon7			AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.752T>C	12.37:g.20870141T>C	ENSP00000266509:p.Val251Ala		20761408	NM_017435	B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.755213	0.89843	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.76	5.76	0.90799	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.71221	0.3314	M	0.89785	3.06	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;1.0;1.0	D;D;D;D	0.91635	0.944;0.991;0.999;0.999	T	0.76937	-0.2774	10	0.54805	T	0.06	.	16.0645	0.80861	0.0:0.0:0.0:1.0	.	133;202;251;251	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	A	251;202;251;251;133	ENSP00000444149:V251A;ENSP00000438665:V202A;ENSP00000266509:V251A;ENSP00000370964:V251A;ENSP00000444527:V133A	ENSP00000266509:V251A	V	+	2	0	SLCO1C1	20761408	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.594000	0.82698	2.200000	0.70718	0.482000	0.46254	GTT		0.343	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435	
NCKAP1L	3071	broad.mit.edu	37	12	54910030	54910030	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr12:54910030A>C	ENST00000293373.6	+	10	1028	c.949A>C	c.(949-951)Aag>Cag	p.K317Q	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.K267Q|NCKAP1L_ENST00000552211.1_3'UTR	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	317					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)	p.K317Q(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CAGGTATGGCAAGAGAGTGGC	0.498																																					p.K267Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A799C	12						.						273.0	195.0	221.0					12																	54910030		2203	4300	6503	53196297	SO:0001583	missense	3071	exon10			AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.949A>C	12.37:g.54910030A>C	ENSP00000293373:p.Lys317Gln		53196297	NM_001184976	B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.653853	0.88056	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.54279	0.58;0.58	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.73249	0.3563	M	0.81802	2.56	0.53688	D	0.999975	D	0.76494	0.999	D	0.83275	0.996	T	0.77493	-0.2567	10	0.87932	D	0	-23.4779	13.5955	0.61987	1.0:0.0:0.0:0.0	.	317	P55160	NCKPL_HUMAN	Q	317;267	ENSP00000293373:K317Q;ENSP00000445596:K267Q	ENSP00000293373:K317Q	K	+	1	0	NCKAP1L	53196297	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.606000	0.82863	2.106000	0.64143	0.397000	0.26171	AAG		0.498	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337	
CS	1431	broad.mit.edu	37	12	56668624	56668624	+	Silent	SNP	A	A	G			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr12:56668624A>G	ENST00000351328.3	-	9	1147	c.957T>C	c.(955-957)gtT>gtC	p.V319V	CS_ENST00000548567.1_Silent_p.V253V|CS_ENST00000542324.2_Silent_p.V306V	NM_004077.2	NP_004068.2	O75390	CISY_HUMAN	citrate synthase	319					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	citrate (Si)-synthase activity (GO:0004108)|poly(A) RNA binding (GO:0044822)	p.V319V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		CATCTTTGCCAACTTCCTTCT	0.443																																					p.V319V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T957C	12						.						141.0	122.0	129.0					12																	56668624		2203	4300	6503	54954891	SO:0001819	synonymous_variant	1431	exon9				CCDS8913.1	12q13.2	2012-10-02				ENSG00000062485	2.3.3.1		2422	protein-coding gene	gene with protein product		118950					Standard	NM_004077		Approved		uc001sks.1	O75390	OTTHUMG00000170344	ENST00000351328.3:c.957T>C	12.37:g.56668624A>G			54954891	NM_004077	Q71UT9|Q7KZH0|Q96FZ8|Q9BWN8	Silent	SNP	ENST00000351328.3	37	CCDS8913.1																																																																																				0.443	CS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408588.2	NM_004077	
DNAH10	196385	broad.mit.edu	37	12	124289557	124289557	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr12:124289557T>A	ENST00000409039.3	+	17	2628	c.2603T>A	c.(2602-2604)aTt>aAt	p.I868N		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	868	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.I686N(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAAAAGAAAATTTATGAGGTC	0.443																																					p.I868N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2603A	12						.						67.0	70.0	69.0					12																	124289557		2203	4300	6503	122855510	SO:0001583	missense	196385	exon17			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.2603T>A	12.37:g.124289557T>A	ENSP00000386770:p.Ile868Asn		122855510	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	T	13.64	2.296712	0.40594	.	.	ENSG00000197653	ENST00000409039	T	0.25250	1.81	5.42	4.25	0.50352	.	0.494884	0.17038	N	0.189451	T	0.50394	0.1613	M	0.80183	2.485	0.35850	D	0.82668	D;D;D	0.76494	0.999;0.999;0.993	D;D;P	0.68353	0.957;0.954;0.895	T	0.60885	-0.7174	10	0.52906	T	0.07	.	11.5375	0.50645	0.1342:0.0:0.0:0.8657	.	868;743;868	Q8IVF4-2;C4IXU6;Q8IVF4	.;.;DYH10_HUMAN	N	868	ENSP00000386770:I868N	ENSP00000386770:I868N	I	+	2	0	DNAH10	122855510	1.000000	0.71417	0.003000	0.11579	0.177000	0.22998	7.977000	0.88081	0.861000	0.35504	0.448000	0.29417	ATT		0.443	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
NPAP1	23742	broad.mit.edu	37	15	24922476	24922476	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr15:24922476G>A	ENST00000329468.2	+	1	1936	c.1462G>A	c.(1462-1464)Gta>Ata	p.V488I		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	488	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.V488I(2)									TAATTCAGTCGTAGGAGCAGC	0.512																																					p.V488I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1462A	15						.						188.0	198.0	195.0					15																	24922476		2203	4300	6503	22473569	SO:0001583	missense	23742	exon1			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1462G>A	15.37:g.24922476G>A	ENSP00000333735:p.Val488Ile		22473569	NM_018958		Missense_Mutation	SNP	ENST00000329468.2	37	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	8.200	0.798045	0.16327	.	.	ENSG00000185823	ENST00000329468	T	0.04917	3.53	2.07	-4.13	0.03904	.	6.428760	0.00447	N	0.000086	T	0.04497	0.0123	L	0.29908	0.895	0.09310	N	1	B	0.23854	0.092	B	0.13407	0.009	T	0.34875	-0.9811	10	0.15952	T	0.53	.	4.5352	0.12024	0.2848:0.2157:0.4995:0.0	.	488	Q9NZP6	CO002_HUMAN	I	488	ENSP00000333735:V488I	ENSP00000333735:V488I	V	+	1	0	C15orf2	22473569	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-2.612000	0.00884	-1.139000	0.02881	0.313000	0.20887	GTA		0.512	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958	
MYO9A	4649	broad.mit.edu	37	15	72311380	72311380	+	Splice_Site	SNP	C	C	T			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr15:72311380C>T	ENST00000356056.5	-	6	1627	c.1155G>A	c.(1153-1155)ccG>ccA	p.P385P	RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000444904.1_Intron|MYO9A_ENST00000564571.1_Splice_Site_p.P385P|MYO9A_ENST00000424560.1_Splice_Site_p.P385P|MYO9A_ENST00000563542.1_Intron|MYO9A_ENST00000566885.1_Intron	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	385	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)	p.P385P(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTGTACTGACCGGCTCAGAGT	0.388																																					p.P385P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1155A	15						.						134.0	127.0	130.0					15																	72311380		2199	4297	6496	70098434	SO:0001630	splice_region_variant	4649	exon6			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.1155+1G>A	15.37:g.72311380C>T			70098434	NM_006901	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Silent	SNP	ENST00000356056.5	37	CCDS10239.1																																																																																				0.388	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901	Silent
STRA6	64220	broad.mit.edu	37	15	74483549	74483549	+	Missense_Mutation	SNP	G	G	C			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr15:74483549G>C	ENST00000323940.5	-	10	1069	c.824C>G	c.(823-825)gCc>gGc	p.A275G	STRA6_ENST00000449139.2_Missense_Mutation_p.A275G|STRA6_ENST00000423167.2_Missense_Mutation_p.A266G|STRA6_ENST00000574278.1_Missense_Mutation_p.A290G|STRA6_ENST00000395105.4_Missense_Mutation_p.A275G|STRA6_ENST00000535552.1_Missense_Mutation_p.A312G|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000563965.1_Missense_Mutation_p.A314G|STRA6_ENST00000416286.3_Missense_Mutation_p.A267G	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	275					adrenal gland development (GO:0030325)|alveolar primary septum development (GO:0061143)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|cognition (GO:0050890)|developmental growth (GO:0048589)|diaphragm development (GO:0060539)|digestive tract morphogenesis (GO:0048546)|ductus arteriosus closure (GO:0097070)|ear development (GO:0043583)|embryonic camera-type eye formation (GO:0060900)|embryonic digestive tract development (GO:0048566)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|feeding behavior (GO:0007631)|female genitalia development (GO:0030540)|head development (GO:0060322)|head morphogenesis (GO:0060323)|heart development (GO:0007507)|kidney development (GO:0001822)|learning (GO:0007612)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung vasculature development (GO:0060426)|neuromuscular process (GO:0050905)|nose morphogenesis (GO:0043585)|paramesonephric duct development (GO:0061205)|phototransduction, visible light (GO:0007603)|positive regulation of behavior (GO:0048520)|positive regulation of JAK-STAT cascade (GO:0046427)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol transport (GO:0034633)|smooth muscle tissue development (GO:0048745)|uterus morphogenesis (GO:0061038)|ventricular septum development (GO:0003281)|vitamin A import (GO:0071939)|vocal learning (GO:0042297)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	receptor activity (GO:0004872)|vitamin transporter activity (GO:0051183)	p.A275G(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						GCAGACGCGGGCCCAGGACAG	0.632																																					p.A290G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C869G	15						.						89.0	75.0	80.0					15																	74483549		2198	4297	6495	72270602	SO:0001583	missense	64220	exon10			AF352728	CCDS10261.1, CCDS45301.1, CCDS45302.1, CCDS55973.1, CCDS55974.1, CCDS58387.1	15q24.1	2014-07-14	2012-12-07		ENSG00000137868	ENSG00000137868			30650	protein-coding gene	gene with protein product	"""retinol binding protein 4 receptor"""	610745	"""stimulated by retinoic acid gene 6 homolog (mouse)"", ""stimulated by retinoic acid 6 homolog (mouse)"""			17255476, 17273977	Standard	NM_022369		Approved	FLJ12541	uc002axj.3	Q9BX79	OTTHUMG00000138998	ENST00000323940.5:c.824C>G	15.37:g.74483549G>C	ENSP00000326085:p.Ala275Gly		72270602	NM_001199041	A8K7F1|B7Z5M9|B7Z862|D3DW54|F5GYI8|I3L1G8|Q6PJF8|Q71RB9|Q7L9G1|Q7Z3U9|Q8TB21|Q9BX78|Q9H9U8	Missense_Mutation	SNP	ENST00000323940.5	37	CCDS10261.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.519460	0.27211	.	.	ENSG00000137868	ENST00000395105;ENST00000323940;ENST00000416286;ENST00000545137;ENST00000449139;ENST00000423167;ENST00000535552;ENST00000536129	T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47	4.67	2.34	0.29019	.	0.382752	0.29087	N	0.013199	T	0.72252	0.3437	M	0.63428	1.95	0.18873	N	0.999989	P;P;P;P;P;P	0.41848	0.763;0.763;0.763;0.763;0.763;0.493	B;B;B;B;B;B	0.39379	0.229;0.229;0.229;0.229;0.229;0.298	T	0.61840	-0.6980	10	0.32370	T	0.25	-6.3065	4.7741	0.13171	0.357:0.0:0.643:0.0	.	312;313;266;275;314;84	F5GYI8;B7Z5G7;Q9BX79-3;Q9BX79;Q9BX79-4;B3KRT6	.;.;.;STRA6_HUMAN;.;.	G	275;275;207;84;314;266;312;165	ENSP00000378537:A275G;ENSP00000326085:A275G;ENSP00000413012:A266G;ENSP00000440238:A312G	ENSP00000326085:A275G	A	-	2	0	STRA6	72270602	0.002000	0.14202	0.094000	0.20943	0.061000	0.15899	0.923000	0.28757	1.100000	0.41517	0.561000	0.74099	GCC		0.632	STRA6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272891.1		
SEMA4B	10509	broad.mit.edu	37	15	90760826	90760826	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr15:90760826T>A	ENST00000411539.2	+	2	573	c.313T>A	c.(313-315)Tac>Aac	p.Y105N	SEMA4B_ENST00000332496.6_Missense_Mutation_p.Y105N|SEMA4B_ENST00000379122.3_Missense_Mutation_p.Y100N	NM_198925.2	NP_945119.1	Q9NPR2	SEM4B_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B	100	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)	receptor activity (GO:0004872)	p.Y105N(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			AGGCGGGGAGTACCAGGAGGT	0.602																																					p.Y105N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T313A	15						.						54.0	55.0	55.0					15																	90760826		2033	4191	6224	88561830	SO:0001583	missense	10509	exon2			AB051532	CCDS45347.1	15q25	2008-07-18						"""Semaphorins"""	10730	protein-coding gene	gene with protein product				SEMAC		7748561	Standard	NM_020210		Approved	SemC, KIAA1745, MGC131831	uc002boz.3	Q9NPR2		ENST00000411539.2:c.313T>A	15.37:g.90760826T>A	ENSP00000394720:p.Tyr105Asn		88561830	NM_198925	Q6UXE3|Q8WVP9|Q96FK5|Q9C0B8|Q9H691|Q9NPM8|Q9NPN0	Missense_Mutation	SNP	ENST00000411539.2	37	CCDS45347.1	.	.	.	.	.	.	.	.	.	.	T	10.12	1.264219	0.23136	.	.	ENSG00000185033	ENST00000332496;ENST00000379122;ENST00000411539	T;T;T	0.09630	2.96;2.96;2.96	5.62	4.5	0.54988	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.290343	0.33591	N	0.004752	T	0.11665	0.0284	L	0.28054	0.825	0.38175	D	0.939431	P;P	0.38978	0.652;0.652	P;P	0.50270	0.636;0.636	T	0.24119	-1.0169	10	0.27785	T	0.31	.	5.5329	0.16995	0.0:0.2302:0.0:0.7698	.	105;100	Q2NL81;Q9NPR2	.;SEM4B_HUMAN	N	105;100;105	ENSP00000332204:Y105N;ENSP00000368417:Y100N;ENSP00000394720:Y105N	ENSP00000332204:Y105N	Y	+	1	0	SEMA4B	88561830	0.997000	0.39634	0.895000	0.35142	0.116000	0.19942	3.543000	0.53633	2.128000	0.65567	0.533000	0.62120	TAC		0.602	SEMA4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416810.1	NM_198925	
COL25A1	84570	broad.mit.edu	37	4	109773434	109773434	+	Silent	SNP	A	A	G			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr4:109773434A>G	ENST00000399132.1	-	26	1877	c.1347T>C	c.(1345-1347)ggT>ggC	p.G449G	COL25A1_ENST00000399127.1_Silent_p.G422G|COL25A1_ENST00000399126.1_Silent_p.G449G	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1									p.G449G(1)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GTCCAGGGGGACCCTAAATCA	0.358																																					p.G449G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1347C	4						.						73.0	70.0	71.0					4																	109773434		1820	4072	5892	109992883	SO:0001819	synonymous_variant	84570	exon25			AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1347T>C	4.37:g.109773434A>G			109992883	NM_198721		Silent	SNP	ENST00000399132.1	37	CCDS43258.1																																																																																				0.358	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518	
STK32B	55351	broad.mit.edu	37	4	5469766	5469766	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr4:5469766C>T	ENST00000282908.5	+	11	1497	c.1075C>T	c.(1075-1077)Cgg>Tgg	p.R359W	STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000510398.1_Missense_Mutation_p.R312W|STK32B_ENST00000512636.1_Missense_Mutation_p.R282W	NM_018401.1	NP_060871.1			serine/threonine kinase 32B									p.R359W(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						GGAGACTGTCCGGGAGGAATT	0.522																																					p.R359W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1075T	4						.						162.0	154.0	157.0					4																	5469766		2203	4300	6503	5520667	SO:0001583	missense	55351	exon11			AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.1075C>T	4.37:g.5469766C>T	ENSP00000282908:p.Arg359Trp		5520667	NM_018401		Missense_Mutation	SNP	ENST00000282908.5	37	CCDS3380.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.638996	0.67130	.	.	ENSG00000152953	ENST00000282908;ENST00000512636;ENST00000510398	T;T;T	0.68765	-0.28;0.03;-0.35	4.75	2.76	0.32466	.	0.163089	0.27027	U	0.021299	T	0.70159	0.3192	L	0.43152	1.355	0.46185	D	0.998913	D	0.76494	0.999	P	0.60949	0.881	T	0.71560	-0.4556	10	0.72032	D	0.01	.	10.3981	0.44214	0.5962:0.4038:0.0:0.0	.	359	Q9NY57	ST32B_HUMAN	W	359;282;312	ENSP00000282908:R359W;ENSP00000423209:R282W;ENSP00000420984:R312W	ENSP00000282908:R359W	R	+	1	2	STK32B	5520667	0.996000	0.38824	0.996000	0.52242	0.900000	0.52787	0.973000	0.29422	0.978000	0.38470	0.563000	0.77884	CGG		0.522	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206854.4	NM_018401	
MAN2B2	23324	broad.mit.edu	37	4	6610849	6610849	+	Silent	SNP	G	G	A	rs540141303		TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr4:6610849G>A	ENST00000285599.3	+	12	1866	c.1830G>A	c.(1828-1830)acG>acA	p.T610T	MAN2B2_ENST00000504960.1_3'UTR|MAN2B2_ENST00000504248.1_Silent_p.T559T	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	610					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.T610T(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GTAACCGAACGGTGCGCGTGA	0.567													g|||	1	0.000199681	0.0	0.0	5008	,	,		21816	0.001		0.0	False		,,,				2504	0.0				p.T610T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1830A	4						.						77.0	67.0	70.0					4																	6610849		2203	4300	6503	6661750	SO:0001819	synonymous_variant	23324	exon12			BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"""core-specific lysosomal alpha-1,6-Mannosidase"""					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.1830G>A	4.37:g.6610849G>A			6661750	NM_015274	Q66MP2|Q86T67	Silent	SNP	ENST00000285599.3	37	CCDS33951.1	.	.	.	.	.	.	.	.	.	.	G	3.456	-0.110909	0.06924	.	.	ENSG00000013288	ENST00000505907	.	.	.	4.26	-8.52	0.00920	.	.	.	.	.	T	0.35799	0.0944	.	.	.	0.58432	D	0.99999	.	.	.	.	.	.	T	0.46748	-0.9169	4	.	.	.	-12.0277	2.8578	0.05577	0.1738:0.311:0.3683:0.1469	.	.	.	.	Q	609	.	.	R	+	2	0	MAN2B2	6661750	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-2.857000	0.00728	-3.427000	0.00165	-1.797000	0.00622	CGG		0.567	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274	
SORCS2	57537	broad.mit.edu	37	4	7666085	7666085	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr4:7666085C>T	ENST00000507866.2	+	7	1067	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W	SORCS2_ENST00000329016.9_Missense_Mutation_p.R148W	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	320					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.R170W(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TGTAGATTTTCGGTACGTCAC	0.597																																					p.R320W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C958T	4						.						43.0	44.0	44.0					4																	7666085		2075	4192	6267	7716985	SO:0001583	missense	57537	exon7			AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.958C>T	4.37:g.7666085C>T	ENSP00000422185:p.Arg320Trp		7716985	NM_020777	Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	37	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.179406	0.38511	.	.	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.31247	1.5;1.5	4.79	2.02	0.26589	VPS10 (1);	0.414901	0.22480	N	0.059519	T	0.39200	0.1069	L	0.57536	1.79	0.35199	D	0.774082	D;D	0.76494	0.998;0.999	P;P	0.57152	0.714;0.814	T	0.48031	-0.9070	10	0.59425	D	0.04	.	5.9996	0.19513	0.1529:0.6789:0.0:0.1682	.	148;320	B5MED8;Q96PQ0	.;SORC2_HUMAN	W	320;148	ENSP00000422185:R320W;ENSP00000329124:R148W	ENSP00000329124:R148W	R	+	1	2	SORCS2	7716985	0.998000	0.40836	0.001000	0.08648	0.008000	0.06430	2.969000	0.49232	0.094000	0.17404	-0.142000	0.14014	CGG		0.597	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777	
FAM114A1	92689	broad.mit.edu	37	4	38942625	38942625	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr4:38942625A>G	ENST00000358869.2	+	14	1749	c.1573A>G	c.(1573-1575)Agt>Ggt	p.S525G	FAM114A1_ENST00000515037.1_Missense_Mutation_p.S318G	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	525						cytoplasm (GO:0005737)		p.S525G(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						CCCCATGATCAGTAGTGTATT	0.408																																					p.S525G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1573G	4						.						118.0	109.0	112.0					4																	38942625		2203	4300	6503	38619020	SO:0001583	missense	92689	exon14				CCDS3447.1	4p14	2006-09-21			ENSG00000197712	ENSG00000197712			25087	protein-coding gene	gene with protein product							Standard	NM_138389		Approved	Noxp20	uc003gtn.3	Q8IWE2	OTTHUMG00000128583	ENST00000358869.2:c.1573A>G	4.37:g.38942625A>G	ENSP00000351740:p.Ser525Gly		38619020	NM_138389	A8K9W6|Q6MZV4|Q9BVL6	Missense_Mutation	SNP	ENST00000358869.2	37	CCDS3447.1	.	.	.	.	.	.	.	.	.	.	A	10.94	1.491457	0.26774	.	.	ENSG00000197712	ENST00000515037;ENST00000358869;ENST00000355404	T;T	0.24350	1.86;2.9	5.28	4.06	0.47325	.	0.311140	0.43110	D	0.000603	T	0.13670	0.0331	N	0.08118	0	0.23107	N	0.998283	B;B	0.16396	0.005;0.017	B;B	0.11329	0.004;0.006	T	0.19418	-1.0306	10	0.66056	D	0.02	-10.89	10.2754	0.43507	0.859:0.0:0.141:0.0	.	318;525	Q6MZV4;Q8IWE2	.;NXP20_HUMAN	G	318;525;318	ENSP00000424115:S318G;ENSP00000351740:S525G	ENSP00000347569:S318G	S	+	1	0	FAM114A1	38619020	0.998000	0.40836	1.000000	0.80357	0.638000	0.38207	2.520000	0.45554	0.906000	0.36621	0.533000	0.62120	AGT		0.408	FAM114A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250436.1	NM_138389	
ALPK1	80216	broad.mit.edu	37	4	113353701	113353701	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr4:113353701G>A	ENST00000458497.1	+	11	3277	c.2998G>A	c.(2998-3000)Ggg>Agg	p.G1000R	ALPK1_ENST00000177648.9_Missense_Mutation_p.G1000R|ALPK1_ENST00000504176.2_Missense_Mutation_p.G922R	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1000							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G1000R(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		AGAGAATACGGGGGTTTTTAA	0.488																																					p.G1000R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2998A	4						.						81.0	90.0	87.0					4																	113353701		2203	4300	6503	113573150	SO:0001583	missense	80216	exon11			AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.2998G>A	4.37:g.113353701G>A	ENSP00000398048:p.Gly1000Arg		113573150	NM_025144	B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.837907	0.50951	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.06528	3.29;3.29;3.29	5.08	5.08	0.68730	Protein kinase-like domain (1);	0.226724	0.41001	D	0.000963	T	0.26195	0.0639	M	0.72118	2.19	0.40224	D	0.977771	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.991	T	0.01532	-1.1331	10	0.66056	D	0.02	-23.4998	18.4932	0.90855	0.0:0.0:1.0:0.0	.	922;922;1000	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	R	1000;1000;922	ENSP00000398048:G1000R;ENSP00000177648:G1000R;ENSP00000426044:G922R	ENSP00000177648:G1000R	G	+	1	0	ALPK1	113573150	1.000000	0.71417	0.059000	0.19551	0.140000	0.21249	6.573000	0.74009	2.354000	0.79902	0.563000	0.77884	GGG		0.488	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144	
FAM47C	442444	broad.mit.edu	37	X	37027369	37027369	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chrX:37027369C>T	ENST00000358047.3	+	1	938	c.886C>T	c.(886-888)Cgg>Tgg	p.R296W		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	296								p.R296W(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						TCATCTCCATCGGGAGCCTCC	0.597																																					p.R296W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C886T	X						.						76.0	66.0	69.0					X																	37027369		2202	4300	6502	36937290	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.886C>T	X.37:g.37027369C>T	ENSP00000367913:p.Arg296Trp		36937290	NM_001013736	Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	c	8.010	0.757338	0.15846	.	.	ENSG00000198173	ENST00000358047	T	0.14144	2.53	0.998	-0.163	0.13363	.	.	.	.	.	T	0.04634	0.0126	N	0.08118	0	0.09310	N	1	P	0.38711	0.643	B	0.24541	0.054	T	0.33189	-0.9878	9	0.72032	D	0.01	.	4.4105	0.11431	0.0:0.6919:0.0:0.3081	.	296	Q5HY64	FA47C_HUMAN	W	296	ENSP00000367913:R296W	ENSP00000367913:R296W	R	+	1	2	FAM47C	36937290	0.003000	0.15002	0.001000	0.08648	0.001000	0.01503	1.346000	0.33964	0.275000	0.22094	0.279000	0.19357	CGG		0.597	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736	
POTEF	728378	broad.mit.edu	37	2	130865631	130865631	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr2:130865631G>T	ENST00000409914.2	-	8	1476	c.1077C>A	c.(1075-1077)gaC>gaA	p.D359E	POTEF_ENST00000357462.5_Missense_Mutation_p.D359E|RNU6-1049P_ENST00000516414.1_RNA|AC018804.3_ENST00000433507.1_RNA|POTEF_ENST00000361163.4_Missense_Mutation_p.D369E|POTEF_ENST00000360967.5_Missense_Mutation_p.D359E	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	359					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.D359E(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TTTCTTTGTAGTCAGAAAGTA	0.279																																					p.D359E												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1077A	2						.						2.0	2.0	2.0					2																	130865631		797	1803	2600	130582101	SO:0001583	missense	728378	exon8			EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.1077C>A	2.37:g.130865631G>T	ENSP00000386786:p.Asp359Glu		130582101	NM_001099771	A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	2.898	-0.228088	0.06022	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.61392	0.11;0.11;0.11;0.7	1.16	-2.32	0.06745	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.22820	0.0551	N	0.01289	-0.905	0.09310	N	1	B	0.13145	0.007	B	0.12156	0.007	T	0.14448	-1.0472	9	0.87932	D	0	.	2.3024	0.04165	0.0:0.2419:0.3234:0.4348	.	359	A5A3E0	POTEF_HUMAN	E	359;359;359;369	ENSP00000350052:D359E;ENSP00000386786:D359E;ENSP00000354232:D359E;ENSP00000355012:D369E	ENSP00000350052:D359E	D	-	3	2	POTEF	130582101	0.010000	0.17322	0.005000	0.12908	0.123000	0.20343	-0.140000	0.10342	-0.610000	0.05716	0.175000	0.17021	GAC		0.279	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771	
AMER3	205147	broad.mit.edu	37	2	131521631	131521631	+	Silent	SNP	C	C	T	rs142277390	byFrequency	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr2:131521631C>T	ENST00000423981.1	+	2	2096	c.1986C>T	c.(1984-1986)caC>caT	p.H662H	AMER3_ENST00000321420.4_Silent_p.H662H	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	662					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.H662H(1)									GGCCAGGTCACGGAGGTGACA	0.647													C|||	10	0.00199681	0.0	0.0	5008	,	,		17068	0.0		0.0	False		,,,				2504	0.0102				p.H662H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1986T	2						.	C	,,,	0,4402		0,0,2201	22.0	25.0	24.0		1986,1986,1986,1986	-4.9	0.0	2	dbSNP_134	24	7,8593	5.0+/-18.6	0,7,4293	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FAM123C	NM_001105193.1,NM_001105194.1,NM_001105195.1,NM_152698.2	,,,	0,7,6494	TT,TC,CC		0.0814,0.0,0.0538	,,,	662/862,662/862,662/862,662/862	131521631	7,12995	2201	4300	6501	131238101	SO:0001819	synonymous_variant	205147	exon2			AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1986C>T	2.37:g.131521631C>T			131238101	NM_001105195	B7ZLH6	Silent	SNP	ENST00000423981.1	37	CCDS2164.1																																																																																				0.647	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698	
TTN	7273	broad.mit.edu	37	2	179582330	179582330	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr2:179582330T>C	ENST00000591111.1	-	85	24544	c.24320A>G	c.(24319-24321)cAg>cGg	p.Q8107R	TTN_ENST00000342992.6_Missense_Mutation_p.Q7180R|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Q8424R			Q8WZ42	TITIN_HUMAN	titin	12298	Ig-like 63.				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.Q7180R(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)			TATGTGGCTCTGGTCAGTTTG	0.428																																					p.Q7180R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A21539G	2						.						75.0	77.0	76.0					2																	179582330		1881	4118	5999	179290575	SO:0001583	missense	7273	exon84			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.24320A>G	2.37:g.179582330T>C	ENSP00000465570:p.Gln8107Arg		179290575	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		.	.	.	.	.	.	.	.	.	.	T	7.923	0.739036	0.15642	.	.	ENSG00000155657	ENST00000342992	T	0.27557	1.66	5.51	4.34	0.51931	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.14313	0.0346	N	0.04043	-0.29	0.80722	D	1	B	0.16166	0.016	B	0.17722	0.019	T	0.05321	-1.0892	9	0.87932	D	0	.	6.3592	0.21419	0.2642:0.0:0.1197:0.6161	.	8107	Q8WZ42	TITIN_HUMAN	R	7180	ENSP00000343764:Q7180R	ENSP00000343764:Q7180R	Q	-	2	0	TTN	179290575	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.559000	0.45888	0.999000	0.39023	-0.316000	0.08728	CAG		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
ZNF385B	151126	broad.mit.edu	37	2	180348097	180348097	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr2:180348097G>A	ENST00000410066.1	-	6	1175	c.572C>T	c.(571-573)aCg>aTg	p.T191M	ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409343.1_Missense_Mutation_p.T115M|ZNF385B_ENST00000336917.5_Missense_Mutation_p.T89M|ZNF385B_ENST00000409692.1_Missense_Mutation_p.T89M	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	191	Interaction with p53/TP53.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)	p.T191M(1)		breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			TTTATTTTTCGTTGCGTCTAG	0.463																																					p.T115M	Colon(155;204 2491 32774 51842)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C344T	2						.						364.0	304.0	324.0					2																	180348097		2203	4300	6503	180056342	SO:0001583	missense	151126	exon4			AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"""zinc finger protein 533"""	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.572C>T	2.37:g.180348097G>A	ENSP00000386845:p.Thr191Met		180056342	NM_001113397	Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Missense_Mutation	SNP	ENST00000410066.1	37	CCDS33339.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.704858	0.48412	.	.	ENSG00000144331	ENST00000410066;ENST00000336917;ENST00000409343;ENST00000409692;ENST00000457304;ENST00000439340	T;T;T;T;T;T	0.45276	1.52;1.52;1.52;1.52;1.53;0.9	5.93	5.05	0.67936	.	0.259394	0.44688	N	0.000430	T	0.39517	0.1081	L	0.44542	1.39	0.45161	D	0.998174	P;P	0.52577	0.824;0.954	B;P	0.44597	0.197;0.454	T	0.14227	-1.0480	10	0.27785	T	0.31	-1.7463	15.2158	0.73264	0.0674:0.0:0.9326:0.0	.	191;115	Q569K4;Q569K4-2	Z385B_HUMAN;.	M	191;89;115;89;89;122	ENSP00000386845:T191M;ENSP00000338225:T89M;ENSP00000386379:T115M;ENSP00000386507:T89M;ENSP00000394038:T89M;ENSP00000399198:T122M	ENSP00000338225:T89M	T	-	2	0	ZNF385B	180056342	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.866000	0.69590	1.510000	0.48803	0.561000	0.74099	ACG		0.463	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	NM_152520	
HADHB	3032	broad.mit.edu	37	2	26502924	26502924	+	Missense_Mutation	SNP	C	C	G	rs534014691		TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr2:26502924C>G	ENST00000317799.5	+	10	978	c.874C>G	c.(874-876)Cta>Gta	p.L292V	HADHB_ENST00000537713.1_Missense_Mutation_p.L277V|HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000405867.3_Missense_Mutation_p.L169V|HADHB_ENST00000545822.1_Missense_Mutation_p.L270V	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	292					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrial envelope (GO:0005740)|mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acyltransferase activity (GO:0003988)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)|poly(A) RNA binding (GO:0044822)	p.L292V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATGGCCAAACTAAAACCTGC	0.368																																					p.L292V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C874G	2						.						145.0	127.0	133.0					2																	26502924		2203	4300	6503	26356428	SO:0001583	missense	3032	exon10				CCDS1722.1, CCDS62871.1, CCDS62872.1	2p23	2010-04-30	2010-04-30		ENSG00000138029	ENSG00000138029	2.3.1.16		4803	protein-coding gene	gene with protein product	"""mitochondrial trifunctional protein, beta subunit"""	143450	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit"""			9605857	Standard	NM_000183		Approved	MTPB	uc002rgz.3	P55084	OTTHUMG00000096978	ENST00000317799.5:c.874C>G	2.37:g.26502924C>G	ENSP00000325136:p.Leu292Val		26356428	NM_000183	B2RB16|B4E2W0|O14969|Q53TA6|Q96C77|Q9H3F5|Q9T2V8	Missense_Mutation	SNP	ENST00000317799.5	37	CCDS1722.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.157725	0.57368	.	.	ENSG00000138029	ENST00000317799;ENST00000405867;ENST00000537713;ENST00000545822	D;D;D;D	0.96011	-3.28;-3.88;-3.28;-3.28	5.43	4.56	0.56223	Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);	0.000000	0.85682	D	0.000000	D	0.98270	0.9427	H	0.95151	3.63	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.80764	0.973;0.973;0.994;0.984	D	0.99107	1.0845	10	0.87932	D	0	-5.8155	13.2781	0.60198	0.0:0.9225:0.0:0.0775	.	277;270;169;292	F5GZQ3;B4E2W0;B5MD38;P55084	.;.;.;ECHB_HUMAN	V	292;169;277;270	ENSP00000325136:L292V;ENSP00000385411:L169V;ENSP00000444295:L277V;ENSP00000442665:L270V	ENSP00000325136:L292V	L	+	1	2	HADHB	26356428	1.000000	0.71417	0.986000	0.45419	0.995000	0.86356	3.804000	0.55568	1.424000	0.47217	-0.145000	0.13849	CTA		0.368	HADHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214050.2	NM_000183	
CARF	79800	broad.mit.edu	37	2	203826146	203826146	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr2:203826146G>A	ENST00000402905.3	+	8	1150	c.829G>A	c.(829-831)Gca>Aca	p.A277T	CARF_ENST00000456821.2_Intron|CARF_ENST00000428585.1_Missense_Mutation_p.A201T|CARF_ENST00000434998.1_Missense_Mutation_p.A175T|CARF_ENST00000414439.1_Missense_Mutation_p.A175T|CARF_ENST00000438828.2_Missense_Mutation_p.A277T|CARF_ENST00000471271.1_Intron|CARF_ENST00000545253.1_Missense_Mutation_p.A189T|WDR12_ENST00000477723.1_Intron|CARF_ENST00000444724.1_Missense_Mutation_p.A277T|CARF_ENST00000545262.1_Missense_Mutation_p.A201T|CARF_ENST00000320443.8_Missense_Mutation_p.A277T	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	277					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	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 involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A277T(1)									ATTTGTTAATGCAGGTACTTT	0.398																																					p.A277T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G829A	2						.						56.0	54.0	54.0					2																	203826146		1849	4088	5937	203534391	SO:0001583	missense	79800	exon8			AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"""calcium-response factor"""	607586	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"""	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.829G>A	2.37:g.203826146G>A	ENSP00000384006:p.Ala277Thr		203534391	NM_001104586	B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Missense_Mutation	SNP	ENST00000402905.3	37	CCDS42801.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.321452	0.60634	.	.	ENSG00000138380	ENST00000402905;ENST00000444724;ENST00000414439;ENST00000428585;ENST00000545253;ENST00000545262;ENST00000434998;ENST00000320443;ENST00000438828	.	.	.	5.38	4.47	0.54385	.	0.078222	0.49916	D	0.000136	T	0.51975	0.1706	N	0.19112	0.55	0.49130	D	0.999751	B;B;B;D	0.58620	0.033;0.019;0.019;0.983	B;B;B;P	0.56865	0.06;0.033;0.033;0.808	T	0.52983	-0.8502	9	0.41790	T	0.15	-13.4459	14.2666	0.66123	0.0:0.0:0.8501:0.1499	.	189;201;277;277	B4DIA7;G3V1K7;Q8N187;F6SXV3	.;.;AL2S8_HUMAN;.	T	277;277;175;201;189;201;175;277;277	.	ENSP00000316224:A277T	A	+	1	0	ALS2CR8	203534391	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.750000	0.55157	1.186000	0.42985	0.563000	0.77884	GCA		0.398	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335768.5	NM_001104586	
LRRC8A	56262	broad.mit.edu	37	9	131678382	131678382	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr9:131678382C>T	ENST00000259324.5	+	4	2688	c.2165C>T	c.(2164-2166)aCg>aTg	p.T722M	LRRC8A_ENST00000372599.3_Missense_Mutation_p.T722M|LRRC8A_ENST00000492784.1_3'UTR|LRRC8A_ENST00000372600.4_Missense_Mutation_p.T722M	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	722					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.T722M(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CAGATCGAGACGCTCCCTCCG	0.642																																					p.T722M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2165T	9						.						62.0	64.0	63.0					9																	131678382		2202	4294	6496	130718203	SO:0001583	missense	56262	exon4			AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.2165C>T	9.37:g.131678382C>T	ENSP00000259324:p.Thr722Met		130718203	NM_019594	Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	ENST00000259324.5	37	CCDS35155.1	.	.	.	.	.	.	.	.	.	.	C	7.964	0.747524	0.15710	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.58210	0.35;0.35;0.35	5.16	3.26	0.37387	.	0.543746	0.20202	N	0.097074	T	0.40322	0.1112	L	0.53780	1.695	0.31804	N	0.627986	B	0.19331	0.035	B	0.17722	0.019	T	0.38929	-0.9638	10	0.30854	T	0.27	.	2.4837	0.04594	0.2505:0.3876:0.2663:0.0956	.	722	Q8IWT6	LRC8A_HUMAN	M	722	ENSP00000361682:T722M;ENSP00000361680:T722M;ENSP00000259324:T722M	ENSP00000259324:T722M	T	+	2	0	LRRC8A	130718203	0.242000	0.23868	0.995000	0.50966	0.816000	0.46133	0.758000	0.26447	1.176000	0.42840	0.462000	0.41574	ACG		0.642	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594	
C9orf129	445577	broad.mit.edu	37	9	96081434	96081434	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr9:96081434G>A	ENST00000375419.1	-	4	751	c.388C>T	c.(388-390)Cgt>Tgt	p.R130C	WNK2_ENST00000395475.2_Intron|WNK2_ENST00000356055.3_Intron|WNK2_ENST00000395477.2_Intron|WNK2_ENST00000471076.1_Intron|WNK2_ENST00000349097.3_Intron	NM_001098808.1	NP_001092278.1	Q5T035	CI129_HUMAN	chromosome 9 open reading frame 129	130								p.R130C(1)		endometrium(2)|large_intestine(1)|lung(1)|ovary(2)	6						TCAGTGGCACGGAATCCCCAA	0.468																																					p.R130C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C388T	9						.						90.0	92.0	92.0					9																	96081434		1938	4133	6071	95121255	SO:0001583	missense	445577	exon4				CCDS43850.1	9q22.31	2012-04-02			ENSG00000204352	ENSG00000204352			31116	protein-coding gene	gene with protein product							Standard	NM_001098808		Approved	bA165J3.3	uc010mre.3	Q5T035	OTTHUMG00000020248	ENST00000375419.1:c.388C>T	9.37:g.96081434G>A	ENSP00000364568:p.Arg130Cys		95121255	NM_001098808		Missense_Mutation	SNP	ENST00000375419.1	37	CCDS43850.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.032861	0.35893	.	.	ENSG00000204352	ENST00000375419	T	0.51071	0.72	5.41	0.86	0.19042	.	.	.	.	.	T	0.22475	0.0542	N	0.08118	0	0.31021	N	0.718168	B	0.10296	0.003	B	0.04013	0.001	T	0.16778	-1.0391	9	0.36615	T	0.2	.	3.551	0.07845	0.4948:0.0:0.3211:0.1841	.	130	Q5T035	CI129_HUMAN	C	130	ENSP00000364568:R130C	ENSP00000364568:R130C	R	-	1	0	C9orf129	95121255	0.052000	0.20516	0.424000	0.26647	0.743000	0.42351	-0.215000	0.09279	0.332000	0.23536	-0.218000	0.12543	CGT		0.468	C9orf129-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053147.1	NM_001098808	
SETX	23064	broad.mit.edu	37	9	135204359	135204359	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr9:135204359T>C	ENST00000224140.5	-	10	2808	c.2626A>G	c.(2626-2628)Att>Gtt	p.I876V	SETX_ENST00000372169.2_Missense_Mutation_p.I876V|SETX_ENST00000393220.1_Missense_Mutation_p.I876V	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	876					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.I876V(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AAAGAGAAAATAACTAATTCT	0.308																																					p.I876V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2626G	9	GRCh37	CD040620	SETX	D		.						38.0	38.0	38.0					9																	135204359		2201	4298	6499	134194180	SO:0001583	missense	23064	exon10			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.2626A>G	9.37:g.135204359T>C	ENSP00000224140:p.Ile876Val		134194180	NM_015046	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	T	1.511	-0.549545	0.03996	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.85955	-1.95;-2.05;-1.66	5.11	-10.2	0.00374	.	3.396890	0.00465	N	0.000103	T	0.64516	0.2605	N	0.24115	0.695	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.61787	-0.6991	10	0.02654	T	1	.	2.5543	0.04756	0.1462:0.1897:0.4299:0.2341	.	876;876;876	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	V	876	ENSP00000224140:I876V;ENSP00000361242:I876V;ENSP00000376913:I876V	ENSP00000224140:I876V	I	-	1	0	SETX	134194180	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.329000	0.07935	-1.361000	0.02169	-0.313000	0.08912	ATT		0.308	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046	
VWA8	23078	broad.mit.edu	37	13	42465656	42465656	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr13:42465656T>C	ENST00000379310.3	-	5	619	c.551A>G	c.(550-552)aAt>aGt	p.N184S	VWA8_ENST00000281496.6_Missense_Mutation_p.N184S	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	184						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.N184S(1)									AGGCAAAACATTCCTCTCTGC	0.443																																					p.N184S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A551G	13						.						130.0	120.0	123.0					13																	42465656		2203	4300	6503	41363656	SO:0001583	missense	23078	exon5			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.551A>G	13.37:g.42465656T>C	ENSP00000368612:p.Asn184Ser		41363656	NM_015058	O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	T	28.9	4.956543	0.92726	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496;ENST00000398857	T;T	0.52754	0.65;0.65	5.71	5.71	0.89125	ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	T	0.68063	0.2960	M	0.71296	2.17	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68123	-0.5492	10	0.44086	T	0.13	.	16.2826	0.82703	0.0:0.0:0.0:1.0	.	184	A3KMH1	K0564_HUMAN	S	88;184;184;184	ENSP00000368612:N184S;ENSP00000281496:N184S	ENSP00000251030:N88S	N	-	2	0	KIAA0564	41363656	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.750000	0.85110	2.307000	0.77673	0.528000	0.53228	AAT		0.443	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058	
NEK5	341676	broad.mit.edu	37	13	52674003	52674003	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr13:52674003A>G	ENST00000355568.4	-	12	1041	c.902T>C	c.(901-903)aTa>aCa	p.I301T		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	301					positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.I358T(1)|p.I301T(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		CACTTTTTGTATTTTACACTC	0.313																																					p.I301T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T902C	13						.						117.0	107.0	110.0					13																	52674003		2203	4300	6503	51572004	SO:0001583	missense	341676	exon12			BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.902T>C	13.37:g.52674003A>G	ENSP00000347767:p.Ile301Thr		51572004	NM_199289	Q5TAP5	Missense_Mutation	SNP	ENST00000355568.4	37	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	A	8.382	0.837805	0.16891	.	.	ENSG00000197168	ENST00000355568	T	0.71341	-0.56	5.52	4.27	0.50696	Protein kinase-like domain (1);	0.329050	0.25014	N	0.033806	T	0.51210	0.1661	L	0.29908	0.895	0.09310	N	1	B	0.33694	0.421	B	0.27500	0.08	T	0.36407	-0.9749	10	0.09084	T	0.74	.	11.159	0.48505	0.8621:0.0:0.0:0.1379	.	301	Q6P3R8	NEK5_HUMAN	T	301	ENSP00000347767:I301T	ENSP00000347767:I301T	I	-	2	0	NEK5	51572004	0.222000	0.23652	0.350000	0.25708	0.434000	0.31775	2.161000	0.42358	2.105000	0.64084	0.528000	0.53228	ATA		0.313	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289	
DIS3	22894	broad.mit.edu	37	13	73336150	73336150	+	Silent	SNP	A	A	G			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr13:73336150A>G	ENST00000377767.4	-	17	2353	c.2253T>C	c.(2251-2253)gcT>gcC	p.A751A	DIS3_ENST00000545453.1_Silent_p.A589A|DIS3_ENST00000377780.4_Silent_p.A721A	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	751					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)	p.A751A(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		AGAAGTACACAGCTTGCATCA	0.398										Multiple Myeloma(4;0.011)																											p.A721A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2163C	13						.						97.0	93.0	95.0					13																	73336150		2203	4300	6503	72234151	SO:0001819	synonymous_variant	22894	exon17			AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"""exosome component 11"""	607533	"""KIAA1008"", ""DIS3 mitotic control homolog (S. cerevisiae)"""	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.2253T>C	13.37:g.73336150A>G			72234151	NM_001128226	A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Silent	SNP	ENST00000377767.4	37	CCDS9447.1																																																																																				0.398	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953	
CCSER2	54462	broad.mit.edu	37	10	86132007	86132007	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr10:86132007C>T	ENST00000224756.8	+	2	1384	c.1199C>T	c.(1198-1200)tCg>tTg	p.S400L	CCSER2_ENST00000359979.4_Missense_Mutation_p.S400L|CCSER2_ENST00000372088.2_Missense_Mutation_p.S400L	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	400					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)		p.S400L(1)									ATTTCCTTGTCGTCTTTGTCA	0.333																																					p.S400L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1199T	10						.						106.0	103.0	104.0					10																	86132007		2203	4300	6503	86121987	SO:0001583	missense	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.1199C>T	10.37:g.86132007C>T	ENSP00000224756:p.Ser400Leu		86121987	NM_018999	B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP	ENST00000224756.8	37	CCDS31235.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.347906	0.61183	.	.	ENSG00000107771	ENST00000359979;ENST00000224756;ENST00000372088	T;T;T	0.69306	-0.39;1.04;0.91	5.73	4.83	0.62350	.	0.165613	0.38720	N	0.001594	T	0.78509	0.4294	M	0.63843	1.955	0.80722	D	1	P;B;D	0.89917	0.58;0.427;1.0	B;B;D	0.83275	0.066;0.046;0.996	T	0.80462	-0.1372	10	0.87932	D	0	-11.184	12.2768	0.54739	0.0:0.9184:0.0:0.0816	.	400;400;400	Q9H7U1-3;Q9H7U1;Q9H7U1-2	.;F190B_HUMAN;.	L	400	ENSP00000353068:S400L;ENSP00000224756:S400L;ENSP00000361160:S400L	ENSP00000224756:S400L	S	+	2	0	FAM190B	86121987	1.000000	0.71417	0.911000	0.35937	0.935000	0.57460	6.705000	0.74644	1.431000	0.47355	0.655000	0.94253	TCG		0.333	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	NM_018999	
TNKS2	80351	broad.mit.edu	37	10	93611010	93611010	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr10:93611010A>C	ENST00000371627.4	+	21	3111	c.2732A>C	c.(2731-2733)gAg>gCg	p.E911A		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	911	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.E911A(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GGGCACAAGGAGCTGAAGGAG	0.363																																					p.E911A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2732C	10						.						127.0	129.0	129.0					10																	93611010		2203	4300	6503	93600990	SO:0001583	missense	80351	exon21			AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.2732A>C	10.37:g.93611010A>C	ENSP00000360689:p.Glu911Ala		93600990	NM_025235	B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	ENST00000371627.4	37	CCDS7417.1	.	.	.	.	.	.	.	.	.	.	A	28.7	4.940361	0.92526	.	.	ENSG00000107854	ENST00000371627	D	0.89196	-2.48	5.32	5.32	0.75619	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.000000	0.64402	D	0.000018	D	0.90031	0.6887	M	0.76170	2.325	0.58432	D	0.999999	P	0.36712	0.566	B	0.40702	0.338	D	0.90686	0.4609	10	0.59425	D	0.04	.	15.5766	0.76397	1.0:0.0:0.0:0.0	.	911	Q9H2K2	TNKS2_HUMAN	A	911	ENSP00000360689:E911A	ENSP00000360689:E911A	E	+	2	0	TNKS2	93600990	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.287000	0.95975	2.138000	0.66242	0.533000	0.62120	GAG		0.363	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235	
ZNF518A	9849	broad.mit.edu	37	10	97920282	97920282	+	RNA	SNP	G	G	T			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr10:97920282G>T	ENST00000534948.1	+	0	5058							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AACTTATGATGATTTTTCCAA	0.294																																					p.M1401I												.	.	0			c.G4203T	10						.						69.0	68.0	68.0					10																	97920282		1799	4075	5874	97910272			9849	exon6			AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97920282G>T			97910272	NM_014803	A0PJI5|O15044|Q32MP4	Missense_Mutation	SNP	ENST00000534948.1	37																																																																																					0.294	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803	
APC	324	broad.mit.edu	37	5	112175171	112175171	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr5:112175171C>T	ENST00000457016.1	+	16	4260	c.3880C>T	c.(3880-3882)Cag>Tag	p.Q1294*	APC_ENST00000257430.4_Nonsense_Mutation_p.Q1294*|APC_ENST00000508376.2_Nonsense_Mutation_p.Q1294*|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1294	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.Q1294*(11)|p.T1293fs*2(1)|p.Q1294fs*6(1)|p.K1192fs*3(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)		TCAGACGACACAGGAAGCAGA	0.383		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.Q1276X	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"""	APC,large_intestine,right,Substitution - Nonsense,0	.	15	Substitution - Nonsense(11)|Deletion - Frameshift(3)|Unknown(1)	large_intestine(13)|soft_tissue(1)|skin(1)	c.C3826T	5	GRCh37	CM930027	APC	M		.						55.0	57.0	56.0					5																	112175171		2202	4300	6502	112203070	SO:0001587	stop_gained	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.3880C>T	5.37:g.112175171C>T	ENSP00000413133:p.Gln1294*		112203070	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	38	6.839479	0.97877	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.73	4.85	0.62838	.	0.122222	0.53938	D	0.000054	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.559	13.8243	0.63342	0.2784:0.7216:0.0:0.0	.	.	.	.	X	1294	.	.	Q	+	1	0	APC	112203070	0.993000	0.37304	1.000000	0.80357	0.962000	0.63368	2.731000	0.47343	1.533000	0.49186	0.655000	0.94253	CAG		0.383	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
HSPA4	3308	broad.mit.edu	37	5	132412484	132412484	+	Missense_Mutation	SNP	C	C	G	rs199586152		TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr5:132412484C>G	ENST00000304858.2	+	7	1091	c.802C>G	c.(802-804)Cag>Gag	p.Q268E	HSPA4_ENST00000504328.1_3'UTR	NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	268					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.Q268E(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACGACTCTCTCAGGAGTGTGA	0.348																																					p.Q268E	Colon(114;1299 1588 6063 12302 48757)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C802G	5						.						118.0	118.0	118.0					5																	132412484		2203	4300	6503	132440383	SO:0001583	missense	3308	exon7			AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"""Heat shock proteins / HSP70"""	5237	protein-coding gene	gene with protein product	"""hsp70 RY"""	601113	"""heat shock 70kD protein 4"""			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.802C>G	5.37:g.132412484C>G	ENSP00000302961:p.Gln268Glu		132440383	NM_002154	O95756|Q2TAL4|Q9BUK9	Missense_Mutation	SNP	ENST00000304858.2	37	CCDS4166.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772707	0.90108	.	.	ENSG00000170606	ENST00000304858;ENST00000537974	T	0.00824	5.65	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.01976	0.0062	N	0.10645	0.015	0.80722	D	1	D	0.57257	0.979	D	0.74023	0.982	T	0.82394	-0.0479	10	0.17832	T	0.49	-7.0661	19.8041	0.96521	0.0:1.0:0.0:0.0	.	268	P34932	HSP74_HUMAN	E	268	ENSP00000302961:Q268E	ENSP00000302961:Q268E	Q	+	1	0	HSPA4	132440383	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.358000	0.79466	2.748000	0.94277	0.591000	0.81541	CAG		0.348	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	NM_002154, NM_198431	
PCDHB2	56133	broad.mit.edu	37	5	140476000	140476000	+	Silent	SNP	G	G	A	rs141231979	byFrequency	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr5:140476000G>A	ENST00000194155.4	+	1	1774	c.1626G>A	c.(1624-1626)gcG>gcA	p.A542A		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	542	Cadherin 5. {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)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A542A(2)		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)			GCTCCCCGGCGTTGAGCAGCG	0.706																																					p.A542A												.	.	2	Substitution - coding silent(2)	large_intestine(1)|kidney(1)	c.G1626A	5						.						39.0	44.0	42.0					5																	140476000		2200	4298	6498	140456184	SO:0001819	synonymous_variant	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.1626G>A	5.37:g.140476000G>A			140456184	NM_018936	Q4KMU1	Silent	SNP	ENST00000194155.4	37	CCDS4244.1																																																																																				0.706	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936	
NSUN2	54888	broad.mit.edu	37	5	6625682	6625682	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr5:6625682C>T	ENST00000264670.6	-	4	771	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	NSUN2_ENST00000505264.1_5'UTR|NSUN2_ENST00000506139.1_Missense_Mutation_p.E119K|NSUN2_ENST00000539938.1_5'UTR	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	154					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)	p.E154K(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CTTACAGATTCTGTTTCACTA	0.358																																					p.E154K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G460A	5						.						98.0	98.0	98.0					5																	6625682		2203	4300	6503	6678682	SO:0001583	missense	54888	exon4			AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"""NOP2/Sun domain containing"""	25994	protein-coding gene	gene with protein product	"""tRNA methyltransferase 4 homolog (S. cerevisiae)"", ""Myc-induced SUN-domain-containing protein"""	610916	"""NOL1/NOP2/Sun domain family, member 2"", ""NOP2/Sun domain family, member 2"", ""mental retardation, non-syndromic, autosomal recessive, 5"""	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.460G>A	5.37:g.6625682C>T	ENSP00000264670:p.Glu154Lys		6678682	NM_017755	A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Missense_Mutation	SNP	ENST00000264670.6	37	CCDS3869.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.918488	0.92249	.	.	ENSG00000037474	ENST00000264670;ENST00000506139	T;T	0.38560	1.13;1.16	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.56978	0.2022	L	0.45137	1.4	0.80722	D	1	D;P	0.71674	0.998;0.804	D;P	0.69479	0.964;0.665	T	0.50955	-0.8766	10	0.33940	T	0.23	-40.1552	19.1283	0.93394	0.0:1.0:0.0:0.0	.	119;154	B4DQW2;Q08J23	.;NSUN2_HUMAN	K	154;119	ENSP00000264670:E154K;ENSP00000420957:E119K	ENSP00000264670:E154K	E	-	1	0	NSUN2	6678682	1.000000	0.71417	0.850000	0.33497	0.747000	0.42532	6.969000	0.76092	2.584000	0.87258	0.563000	0.77884	GAA		0.358	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755	
ZNF622	90441	broad.mit.edu	37	5	16463691	16463691	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr5:16463691G>T	ENST00000308683.2	-	2	912	c.786C>A	c.(784-786)agC>agA	p.S262R		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	262					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.S262R(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TCATCAGCGAGCTGGAATGAT	0.458																																					p.S262R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C786A	5						.						161.0	160.0	160.0					5																	16463691		2203	4300	6503	16516691	SO:0001583	missense	90441	exon2			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.786C>A	5.37:g.16463691G>T	ENSP00000310042:p.Ser262Arg		16516691	NM_033414		Missense_Mutation	SNP	ENST00000308683.2	37	CCDS3886.1	.	.	.	.	.	.	.	.	.	.	G	7.687	0.690284	0.15039	.	.	ENSG00000173545	ENST00000308683	T	0.45276	0.9	5.75	5.75	0.90469	Zinc finger, C2H2-like (1);	0.204778	0.52532	D	0.000068	T	0.21801	0.0525	N	0.04245	-0.25	0.34188	D	0.67171	B	0.26147	0.143	B	0.32393	0.145	T	0.35475	-0.9787	10	0.18276	T	0.48	-9.243	9.5862	0.39517	0.0742:0.0:0.7735:0.1523	.	262	Q969S3	ZN622_HUMAN	R	262	ENSP00000310042:S262R	ENSP00000310042:S262R	S	-	3	2	ZNF622	16516691	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	1.995000	0.40767	2.706000	0.92434	0.561000	0.74099	AGC		0.458	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207105.1	NM_033414	
CMYA5	202333	broad.mit.edu	37	5	79025565	79025565	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr5:79025565T>C	ENST00000446378.2	+	2	1008	c.977T>C	c.(976-978)aTt>aCt	p.I326T		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	326					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.I326T(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CAAAAGAAAATTTATGCTGAT	0.438																																					p.I326T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T977C	5						.						65.0	61.0	62.0					5																	79025565		1926	4134	6060	79061321	SO:0001583	missense	202333	exon2			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.977T>C	5.37:g.79025565T>C	ENSP00000394770:p.Ile326Thr		79061321	NM_153610	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	T	4.856	0.159040	0.09236	.	.	ENSG00000164309	ENST00000446378	T	0.39056	1.1	5.79	-9.28	0.00656	.	2.041440	0.02229	N	0.064680	T	0.21509	0.0518	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15378	-1.0439	10	0.35671	T	0.21	.	11.715	0.51647	0.0:0.5116:0.2574:0.231	.	326	Q8N3K9	CMYA5_HUMAN	T	326	ENSP00000394770:I326T	ENSP00000394770:I326T	I	+	2	0	CMYA5	79061321	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.984000	0.03755	-1.314000	0.02300	-0.242000	0.12053	ATT		0.438	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610	
KIF4B	285643	broad.mit.edu	37	5	154395879	154395879	+	Silent	SNP	T	T	C			TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01Y-01	TCGA-AG-A01Y-01	g.chr5:154395879T>C	ENST00000435029.4	+	1	2620	c.2460T>C	c.(2458-2460)atT>atC	p.I820I		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	820	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)	p.I820I(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAAAACAGATTGAAAGCCTAG	0.453																																					p.I820I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T2460C	5						.						52.0	55.0	54.0					5																	154395879		2203	4300	6503	154376072	SO:0001819	synonymous_variant	285643	exon1			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2460T>C	5.37:g.154395879T>C			154376072	NM_001099293		Silent	SNP	ENST00000435029.4	37	CCDS47324.1																																																																																				0.453	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1		
