#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_classification	i_context	i_dataset	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	i_type
PINK1	65018	broad.mit.edu	37	1	20975680	20975680	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1492-01	TCGA-13-1492-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1492-01	TCGA-13-1492-10	g.chr1:20975680G>A	ENST00000321556.4	+	7	1538	c.1444G>A	c.(1444-1446)Gtg>Atg	p.V482M	PINK1_ENST00000492302.1_3'UTR|PINK1-AS_ENST00000451424.1_RNA	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	482	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				activation of protein kinase B activity (GO:0032148)|cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|intracellular signal transduction (GO:0035556)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway (GO:1903384)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|peptidyl-serine autophosphorylation (GO:0036289)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of peptidase activity (GO:0010952)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein complex assembly (GO:0043254)|regulation of protein ubiquitination (GO:0031396)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|TORC2 signaling (GO:0038203)|ubiquitin-dependent protein catabolic process (GO:0006511)	astrocyte projection (GO:0097449)|axon (GO:0030424)|cell body (GO:0044297)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|Lewy body (GO:0097413)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|C3HC4-type RING finger domain binding (GO:0055131)|calcium-dependent protein kinase activity (GO:0010857)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)|protein kinase B binding (GO:0043422)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.V482M(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCCTCCAGACGTGAGACAGTT	0.612																																					Esophageal Squamous(145;853 1803 8146 34412 35011)											1	Substitution - Missense(1)	ovary(1)	1											53.0	50.0	51.0					1																	20975680		2203	4300	6503	20848267	SO:0001583	missense	65018			AB053323	CCDS211.1	1p36.12	2011-07-21			ENSG00000158828	ENSG00000158828		"""Parkinson disease"""	14581	protein-coding gene	gene with protein product		608309	"""Parkinson disease (autosomal recessive) 6"""	PARK6		11494141, 15349860	Standard	NM_032409		Approved		uc001bdm.3	Q9BXM7	OTTHUMG00000002841	ENST00000321556.4:c.1444G>A	1.37:g.20975680G>A	ENSP00000364204:p.Val482Met		20848267	Q8N6T9|Q8NBU3|Q96DE4	Missense_Mutation	SNP	ENST00000321556.4	37	CCDS211.1	SNP	40	Broad	.	.	.	.	.	.	.	.	.	.	G	7.191	0.591600	0.13812	.	.	ENSG00000158828	ENST00000321556	T	0.74315	-0.83	6.17	-1.19	0.09585	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.646613	0.16588	N	0.207902	T	0.58395	0.2119	L	0.41124	1.26	0.09310	N	1	P;P	0.45827	0.579;0.867	B;B	0.36244	0.09;0.22	T	0.52845	-0.8521	10	0.48119	T	0.1	-7.4371	10.1346	0.42699	0.4882:0.0:0.5118:0.0	.	175;482	Q9BXM7-2;Q9BXM7	.;PINK1_HUMAN	M	482	ENSP00000364204:V482M	ENSP00000364204:V482M	V	+	1	0	PINK1	20848267	0.007000	0.16637	0.000000	0.03702	0.004000	0.04260	1.540000	0.36115	-0.482000	0.06782	-0.768000	0.03414	GTG		0.612	PINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007954.1	NM_032409		Missense_Mutation
TNN	63923	broad.mit.edu	37	1	175066671	175066671	+	Silent	SNP	C	C	T	rs140149976		TCGA-13-1492-01	TCGA-13-1492-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1492-01	TCGA-13-1492-10	g.chr1:175066671C>T	ENST00000239462.4	+	8	1820	c.1707C>T	c.(1705-1707)gaC>gaT	p.D569D		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	569	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.D569D(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CCTCTGCTGACGACCAAGAGA	0.602																																																1	Substitution - coding silent(1)	ovary(1)	1						C		1,4405	2.1+/-5.4	0,1,2202	85.0	71.0	76.0		1707	-5.0	0.0	1	dbSNP_134	76	0,8600		0,0,4300	no	coding-synonymous	TNN	NM_022093.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		569/1300	175066671	1,13005	2203	4300	6503	173333294	SO:0001819	synonymous_variant	63923			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.1707C>T	1.37:g.175066671C>T			173333294	B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	CCDS30943.1	SNP	19	Broad																																																																																				0.602	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		Silent
CACNA1C	775	broad.mit.edu	37	12	2622145	2622145	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1492-01	TCGA-13-1492-10			G	A	G	G	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-1492-01	TCGA-13-1492-10	g.chr12:2622145G>A	ENST00000347598.4	+	9	1385	c.1385G>A	c.(1384-1386)cGa>cAa	p.R462Q	CACNA1C_ENST00000399591.1_Missense_Mutation_p.R462Q|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R462Q|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R462Q|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R462Q|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R462Q|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R462Q|CACNA1C_ENST00000480911.1_Missense_Mutation_p.R462Q|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R462Q|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R462Q|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R462Q|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R462Q|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R462Q|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R462Q|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R462Q|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R462Q|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R462Q|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R462Q|CACNA1C_ENST00000399655.1_Missense_Mutation_p.R462Q|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R462Q|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R462Q|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R462Q|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R462Q	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	462					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.R492Q(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GAGAAGCCCCGAAACAGTGAG	0.542																																																1	Substitution - Missense(1)	ovary(1)	12											24.0	28.0	27.0					12																	2622145		2093	4228	6321	2492406	SO:0001583	missense	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1385G>A	12.37:g.2622145G>A	ENSP00000266376:p.Arg462Gln		2492406	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	CCDS44788.1	SNP	37	Broad	.	.	.	.	.	.	.	.	.	.	G	29.6	5.022341	0.93462	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3	4.43	4.43	0.53597	.	0.814100	0.11428	N	0.565062	D	0.97259	0.9104	M	0.89414	3.03	0.58432	D	0.999999	B;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;D;B;D;D;D;D;D;D;D	0.89917	0.194;1.0;0.999;0.962;0.999;1.0;0.999;1.0;0.912;0.998;1.0;0.999;0.997;0.999;0.999;0.999;0.999;0.452;1.0;0.999;0.999;1.0;1.0;0.999;0.999	B;D;D;B;D;D;D;D;B;D;D;D;D;D;D;D;D;B;D;D;D;D;D;D;D	0.83275	0.024;0.988;0.927;0.259;0.934;0.996;0.99;0.996;0.392;0.934;0.996;0.99;0.922;0.996;0.978;0.99;0.975;0.041;0.964;0.95;0.975;0.964;0.996;0.975;0.99	D	0.95985	0.8981	10	0.37606	T	0.19	.	17.6038	0.88032	0.0:0.0:1.0:0.0	.	91;462;459;462;462;462;462;462;462;462;462;462;433;462;462;462;462;462;462;462;462;462;462;462;462	Q5V9X8;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	Q	462;462;462;462;462;462;462;462;462;462;462;462;462;462;462;462;462;462;462;462;462;462;462;303	ENSP00000336982:R462Q;ENSP00000382563:R462Q;ENSP00000437936:R462Q;ENSP00000382552:R462Q;ENSP00000382547:R462Q;ENSP00000382506:R462Q;ENSP00000382530:R462Q;ENSP00000382546:R462Q;ENSP00000382500:R462Q;ENSP00000382549:R462Q;ENSP00000266376:R462Q;ENSP00000382515:R462Q;ENSP00000382510:R462Q;ENSP00000341092:R462Q;ENSP00000382537:R462Q;ENSP00000329877:R462Q;ENSP00000382557:R462Q;ENSP00000385724:R462Q;ENSP00000382512:R462Q;ENSP00000382542:R462Q;ENSP00000382526:R462Q;ENSP00000385896:R462Q;ENSP00000382504:R462Q	ENSP00000323129:R303Q	R	+	2	0	CACNA1C	2492406	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.347000	0.97059	2.465000	0.83290	0.655000	0.94253	CGA		0.542	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		Missense_Mutation
CACNA1C	775	broad.mit.edu	37	12	2774154	2774154	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1492-01	TCGA-13-1492-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1492-01	TCGA-13-1492-10	g.chr12:2774154C>G	ENST00000347598.4	+	37	4540	c.4540C>G	c.(4540-4542)Ctg>Gtg	p.L1514V	CACNA1C_ENST00000399591.1_Missense_Mutation_p.L1455V|CACNA1C_ENST00000327702.7_Missense_Mutation_p.L1466V|CACNA1C_ENST00000399637.1_Missense_Mutation_p.L1466V|CACNA1C_ENST00000399603.1_Missense_Mutation_p.L1466V|CACNA1C_ENST00000344100.3_Missense_Mutation_p.L1488V|CACNA1C_ENST00000399644.1_Missense_Mutation_p.L1466V|CACNA1C_ENST00000399595.1_Missense_Mutation_p.L1455V|CACNA1C_ENST00000399641.1_Missense_Mutation_p.L1466V|CACNA1C_ENST00000399601.1_Missense_Mutation_p.L1466V|CACNA1C_ENST00000399606.1_Missense_Mutation_p.L1486V|CACNA1C_ENST00000399649.1_Missense_Mutation_p.L1453V|CACNA1C_ENST00000335762.5_Missense_Mutation_p.L1491V|CACNA1C_ENST00000399638.1_Missense_Mutation_p.L1494V|CACNA1C_ENST00000399617.1_Missense_Mutation_p.L1466V|CACNA1C_ENST00000406454.3_Missense_Mutation_p.L1466V|CACNA1C_ENST00000399597.1_Missense_Mutation_p.L1466V|CACNA1C_ENST00000399655.1_Missense_Mutation_p.L1466V|CACNA1C_ENST00000399629.1_Missense_Mutation_p.L1483V|CACNA1C_ENST00000402845.3_Missense_Mutation_p.L1466V|CACNA1C_ENST00000399621.1_Missense_Mutation_p.L1466V|CACNA1C_ENST00000399634.1_Missense_Mutation_p.L1466V	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1514	Dihydropyridine binding. {ECO:0000250}.|Phenylalkylamine binding. {ECO:0000250}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.L1544V(1)|p.L1001V(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTGTGCCTTCCTGGTAAGCCA	0.572																																																2	Substitution - Missense(2)	ovary(2)	12											55.0	57.0	56.0					12																	2774154		2203	4300	6503	2644415	SO:0001583	missense	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.4540C>G	12.37:g.2774154C>G	ENSP00000266376:p.Leu1514Val		2644415	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	CCDS44788.1	SNP	24	Broad	.	.	.	.	.	.	.	.	.	.	C	17.34	3.363939	0.61513	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98567	-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0	4.3	4.3	0.51218	Ion transport (1);	0.000000	0.64402	D	0.000003	D	0.98163	0.9393	L	0.58510	1.815	0.52501	D	0.999958	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.993;0.999;1.0;0.993;0.999;0.999;0.998;1.0;1.0;0.999;0.999;0.994;0.998;0.999;0.999;0.99;1.0;0.999;0.997;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.994;0.99;0.995;1.0;0.99;0.995;0.995;0.997;0.999;0.999;0.995;0.995;0.966;0.997;0.994;0.998;0.979;1.0;0.995;0.986;0.986;0.995;0.995;0.995;0.986	D	0.97802	1.0245	10	0.87932	D	0	.	8.4515	0.32873	0.0:0.8256:0.0:0.1744	.	157;1488;1463;1514;1466;1466;1466;1483;1494;1466;1486;1466;1426;1514;1466;1466;1466;1455;1453;1455;1455;1466;1466;1466;1466	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	V	1491;1466;1466;1494;1466;1466;1466;1455;1466;1514;1486;1466;1488;1483;1466;1453;1466;1466;1466;1466;1466;1455;1296	ENSP00000336982:L1491V;ENSP00000382563:L1466V;ENSP00000382552:L1466V;ENSP00000382547:L1494V;ENSP00000382506:L1466V;ENSP00000382530:L1466V;ENSP00000382546:L1466V;ENSP00000382500:L1455V;ENSP00000382549:L1466V;ENSP00000266376:L1514V;ENSP00000382515:L1486V;ENSP00000382510:L1466V;ENSP00000341092:L1488V;ENSP00000382537:L1483V;ENSP00000329877:L1466V;ENSP00000382557:L1453V;ENSP00000385724:L1466V;ENSP00000382512:L1466V;ENSP00000382542:L1466V;ENSP00000382526:L1466V;ENSP00000385896:L1466V;ENSP00000382504:L1455V	ENSP00000323129:L1296V	L	+	1	2	CACNA1C	2644415	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.164000	0.42387	2.391000	0.81399	0.491000	0.48974	CTG		0.572	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		Missense_Mutation
FGF23	8074	broad.mit.edu	37	12	4479847	4479847	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1492-01	TCGA-13-1492-10			G	A	G	G	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-1492-01	TCGA-13-1492-10	g.chr12:4479847G>A	ENST00000237837.1	-	3	563	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	140					cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.R140W(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			CTCTTCGCCCGGCCCAGACTG	0.577																																																1	Substitution - Missense(1)	ovary(1)	12											99.0	99.0	99.0					12																	4479847		2203	4300	6503	4350108	SO:0001583	missense	8074			AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.418C>T	12.37:g.4479847G>A	ENSP00000237837:p.Arg140Trp		4350108	Q4V758	Missense_Mutation	SNP	ENST00000237837.1	37	CCDS8526.1	SNP	39	Broad	.	.	.	.	.	.	.	.	.	.	G	14.34	2.507600	0.44558	.	.	ENSG00000118972	ENST00000237837	D	0.88354	-2.37	4.88	2.83	0.33086	.	0.283234	0.40908	N	0.001000	D	0.90724	0.7089	M	0.78637	2.42	0.19300	N	0.999971	D	0.69078	0.997	P	0.54590	0.756	D	0.83433	0.0039	10	0.72032	D	0.01	-7.1689	7.5214	0.27631	0.0:0.1252:0.4131:0.4617	.	140	Q9GZV9	FGF23_HUMAN	W	140	ENSP00000237837:R140W	ENSP00000237837:R140W	R	-	1	2	FGF23	4350108	0.994000	0.37717	0.709000	0.30452	0.253000	0.25986	3.197000	0.51028	1.229000	0.43630	0.549000	0.68633	CGG		0.577	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398936.1			Missense_Mutation
AKAP3	10566	broad.mit.edu	37	12	4737304	4737304	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1492-01	TCGA-13-1492-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1492-01	TCGA-13-1492-10	g.chr12:4737304C>A	ENST00000545990.2	-	5	1288	c.764G>T	c.(763-765)aGa>aTa	p.R255I	AKAP3_ENST00000228850.1_Missense_Mutation_p.R255I|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	255					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)	p.R255I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TCCACCCTCTCTGGCATAATC	0.463																																																1	Substitution - Missense(1)	ovary(1)	12											91.0	89.0	90.0					12																	4737304		2203	4300	6503	4607565	SO:0001583	missense	10566			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.764G>T	12.37:g.4737304C>A	ENSP00000440994:p.Arg255Ile		4607565	O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	ENST00000545990.2	37	CCDS8531.1	SNP	32	Broad	.	.	.	.	.	.	.	.	.	.	C	3.957	-0.011021	0.07727	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.08193	3.12;3.12	4.32	-5.74	0.02391	A-kinase anchor 110kDa, C-terminal (1);	0.487112	0.18872	N	0.128820	T	0.04227	0.0117	N	0.22421	0.69	0.21897	N	0.999489	P	0.41393	0.748	B	0.38562	0.276	T	0.19353	-1.0308	10	0.56958	D	0.05	-0.5138	6.687	0.23150	0.0:0.4318:0.235:0.3332	.	255	O75969	AKAP3_HUMAN	I	255	ENSP00000228850:R255I;ENSP00000440994:R255I	ENSP00000228850:R255I	R	-	2	0	AKAP3	4607565	0.000000	0.05858	0.015000	0.15790	0.062000	0.15995	-2.143000	0.01297	-1.224000	0.02581	0.655000	0.94253	AGA		0.463	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422		Missense_Mutation
F7	2155	broad.mit.edu	37	13	113773172	113773172	+	Nonsense_Mutation	SNP	C	C	A			TCGA-13-1492-01	TCGA-13-1492-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1492-01	TCGA-13-1492-10	g.chr13:113773172C>A	ENST00000375581.3	+	9	1286	c.1251C>A	c.(1249-1251)taC>taA	p.Y417*	F7_ENST00000541084.1_Nonsense_Mutation_p.Y348*|F7_ENST00000346342.3_Nonsense_Mutation_p.Y395*	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	417	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.Y417*(1)		large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GCACGTGGTACCTGACGGGCA	0.632																																																1	Substitution - Nonsense(1)	ovary(1)	13											31.0	31.0	31.0					13																	113773172		2202	4299	6501	112821173	SO:0001587	stop_gained	2155				CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			ENSG00000057593	ENSG00000057593	3.4.21.21		3544	protein-coding gene	gene with protein product	"""eptacog alfa"", ""FVII coagulation protein"", ""factor VII"""	613878				3264725, 2511201	Standard	NM_000131		Approved		uc001vsv.4	P08709	OTTHUMG00000017373	ENST00000375581.3:c.1251C>A	13.37:g.113773172C>A	ENSP00000364731:p.Tyr417*		112821173	B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Nonsense_Mutation	SNP	ENST00000375581.3	37	CCDS9528.1	SNP	18	Broad	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269531	0.40095	.	.	ENSG00000057593	ENST00000346342;ENST00000541084;ENST00000375581	.	.	.	4.11	0.312	0.15837	.	0.140165	0.46145	D	0.000308	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	7.6992	0.28613	0.0:0.4555:0.0:0.5445	.	.	.	.	X	395;348;417	.	ENSP00000329546:Y395X	Y	+	3	2	F7	112821173	0.999000	0.42202	0.996000	0.52242	0.037000	0.13140	0.621000	0.24418	0.124000	0.18369	0.467000	0.42956	TAC		0.632	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045838.4	NM_000131		Nonsense_Mutation
TEP1	7011	broad.mit.edu	37	14	20836605	20836605	+	Silent	SNP	A	A	G			TCGA-13-1492-01	TCGA-13-1492-10			A	G	A	A	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-1492-01	TCGA-13-1492-10	g.chr14:20836605A>G	ENST00000262715.5	-	55	7915	c.7875T>C	c.(7873-7875)aaT>aaC	p.N2625N	TEP1_ENST00000556935.1_Silent_p.N2517N	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2625					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.N2625N(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TTCATTCCCAATTCAGAAAGT	0.478																																																1	Substitution - coding silent(1)	ovary(1)	14											83.0	76.0	78.0					14																	20836605		2203	4300	6503	19906445	SO:0001819	synonymous_variant	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.7875T>C	14.37:g.20836605A>G			19906445	A0AUV9	Silent	SNP	ENST00000262715.5	37	CCDS9548.1	SNP	4	Broad																																																																																				0.478	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		Silent
ZFYVE26	23503	broad.mit.edu	37	14	68260427	68260427	+	Silent	SNP	C	C	T			TCGA-13-1492-01	TCGA-13-1492-10			C	T	C	C	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-1492-01	TCGA-13-1492-10	g.chr14:68260427C>T	ENST00000347230.4	-	14	2589	c.2451G>A	c.(2449-2451)ttG>ttA	p.L817L	ZFYVE26_ENST00000555452.1_Silent_p.L817L	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	817					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.L817L(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GATGGGGGTGCAATCTACTGT	0.542																																																1	Substitution - coding silent(1)	ovary(1)	14											117.0	91.0	100.0					14																	68260427		2203	4300	6503	67330180	SO:0001819	synonymous_variant	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.2451G>A	14.37:g.68260427C>T			67330180	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	ENST00000347230.4	37	CCDS9788.1	SNP	25	Broad																																																																																				0.542	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		Silent
ZNF839	55778	broad.mit.edu	37	14	102805457	102805457	+	Silent	SNP	G	G	A	rs201573850	byFrequency	TCGA-13-1492-01	TCGA-13-1492-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1492-01	TCGA-13-1492-10	g.chr14:102805457G>A	ENST00000558850.1	+	7	1826	c.1476G>A	c.(1474-1476)gtG>gtA	p.V492V	ZNF839_ENST00000420933.2_3'UTR|AL137229.1_ENST00000577622.1_RNA|ZNF839_ENST00000559185.1_Silent_p.V492V|ZNF839_ENST00000442396.2_Silent_p.V608V|ZNF839_ENST00000262236.5_Silent_p.V492V	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	492							metal ion binding (GO:0046872)	p.V608V(1)		breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TGGCCTCAGTGAAAAGGCCCA	0.562													G|||	3	0.000599042	0.0	0.0014	5008	,	,		19102	0.002		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	ovary(1)	14						G		0,3876		0,0,1938	47.0	49.0	49.0		1824	1.9	0.1	14		49	2,8266		0,2,4132	no	coding-synonymous	ZNF839	NM_018335.3		0,2,6070	AA,AG,GG		0.0242,0.0,0.0165		608/928	102805457	2,12142	1938	4134	6072	101875210	SO:0001819	synonymous_variant	55778			AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 131"""	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.1476G>A	14.37:g.102805457G>A			101875210	B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Silent	SNP	ENST00000558850.1	37	CCDS58336.1	SNP	45	Broad																																																																																				0.562	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	NM_018335		Silent
MAP1A	4130	broad.mit.edu	37	15	43818726	43818726	+	Silent	SNP	C	C	A	rs368338022		TCGA-13-1492-01	TCGA-13-1492-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1492-01	TCGA-13-1492-10	g.chr15:43818726C>A	ENST00000300231.5	+	4	5505	c.5055C>A	c.(5053-5055)ggC>ggA	p.G1685G	MAP1A_ENST00000399453.1_Silent_p.G1685G|MAP1A_ENST00000382031.1_Silent_p.G1923G			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1685					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)	p.G1685G(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	ATTGGAGGGGCAGAGAGGATG	0.592																																																1	Substitution - coding silent(1)	ovary(1)	15											52.0	63.0	59.0					15																	43818726		2026	4183	6209	41606018	SO:0001819	synonymous_variant	4130			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.5055C>A	15.37:g.43818726C>A			41606018	O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	ENST00000300231.5	37	CCDS42031.1	SNP	25	Broad																																																																																				0.592	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		Silent
GLDN	342035	broad.mit.edu	37	15	51696682	51696682	+	Missense_Mutation	SNP	G	G	A	rs371728997		TCGA-13-1492-01	TCGA-13-1492-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1492-01	TCGA-13-1492-10	g.chr15:51696682G>A	ENST00000335449.6	+	10	1443	c.1387G>A	c.(1387-1389)Gtc>Atc	p.V463I	GLDN_ENST00000396399.2_Missense_Mutation_p.V339I	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	463	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V463I(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		GGTGCAACACGTCAATACCAC	0.483																																																1	Substitution - Missense(1)	ovary(1)	15						A	ILE/VAL	1,4391	824.9+/-416.5	0,1,2195	174.0	155.0	162.0		1387	2.2	1.0	15		162	0,8586		0,0,4293	no	missense	GLDN	NM_181789.2	29	0,1,6488	AA,AG,GG		0.0,0.0228,0.0077	benign	463/552	51696682	1,12977	2196	4293	6489	49483974	SO:0001583	missense	342035			AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"""collomin"""	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.1387G>A	15.37:g.51696682G>A	ENSP00000335196:p.Val463Ile		49483974	Q6UXZ7|Q7Z359	Missense_Mutation	SNP	ENST00000335449.6	37	CCDS10140.2	SNP	40	Broad	.	.	.	.	.	.	.	.	.	.	A	1.847	-0.465982	0.04476	2.28E-4	0.0	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.88277	-2.36;-2.36	5.71	2.16	0.27623	Olfactomedin-like (3);	0.319503	0.22527	N	0.058890	T	0.57932	0.2087	N	0.00182	-1.905	0.09310	N	0.999998	B	0.13594	0.008	B	0.12156	0.007	T	0.58399	-0.7643	10	0.02654	T	1	.	9.6837	0.40085	0.7409:0.0:0.2591:0.0	.	463	Q6ZMI3	GLDN_HUMAN	I	463;339;339	ENSP00000335196:V463I;ENSP00000379681:V339I	ENSP00000335196:V463I	V	+	1	0	GLDN	49483974	1.000000	0.71417	0.974000	0.42286	0.482000	0.33219	3.564000	0.53791	-0.092000	0.12417	-1.216000	0.01612	GTC		0.483	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2	NM_181789		Missense_Mutation
ICE2	79664	broad.mit.edu	37	15	60734672	60734672	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1492-01	TCGA-13-1492-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1492-01	TCGA-13-1492-10	g.chr15:60734672C>T	ENST00000261520.4	-	12	2602	c.2368G>A	c.(2368-2370)Gaa>Aaa	p.E790K	NARG2_ENST00000439632.1_Missense_Mutation_p.E653K	NM_024611.4	NP_078887.2												p.E790K(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						CGACAAAGTTCACTTTCAGTC	0.318																																																1	Substitution - Missense(1)	ovary(1)	15											90.0	80.0	84.0					15																	60734672		2203	4299	6502	58521964	SO:0001583	missense	79664																														ENST00000261520.4:c.2368G>A	15.37:g.60734672C>T	ENSP00000261520:p.Glu790Lys		58521964		Missense_Mutation	SNP	ENST00000261520.4	37	CCDS10176.1	SNP	29	Broad	.	.	.	.	.	.	.	.	.	.	C	32	5.105184	0.94245	.	.	ENSG00000128915	ENST00000261520;ENST00000439632	.	.	.	5.14	5.14	0.70334	NMDA receptor-regulated gene protein 2 (1);	0.000000	0.85682	D	0.000000	T	0.78078	0.4227	M	0.63843	1.955	0.50813	D	0.999898	D	0.89917	1.0	D	0.91635	0.999	T	0.80466	-0.1370	9	0.87932	D	0	-20.9003	18.6104	0.91283	0.0:1.0:0.0:0.0	.	790	Q659A1	NARG2_HUMAN	K	790;653	.	ENSP00000261520:E790K	E	-	1	0	NARG2	58521964	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.028000	0.70889	2.377000	0.81083	0.655000	0.94253	GAA		0.318	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1			Missense_Mutation
SLC12A4	6560	broad.mit.edu	37	16	67995580	67995580	+	Silent	SNP	C	C	T	rs565212919		TCGA-13-1492-01	TCGA-13-1492-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1492-01	TCGA-13-1492-10	g.chr16:67995580C>T	ENST00000316341.3	-	3	380	c.240G>A	c.(238-240)tcG>tcA	p.S80S	SLC12A4_ENST00000338335.3_Silent_p.S80S|SLC12A4_ENST00000576616.1_Silent_p.S80S|SLC12A4_ENST00000572037.1_Silent_p.S32S|SLC12A4_ENST00000422611.2_Silent_p.S82S|SLC12A4_ENST00000541864.2_Silent_p.S49S|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000537830.2_Silent_p.S74S	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	80					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.S80S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCAGAAGAGACGATACCTTTG	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		20041	0.0		0.0	False		,,,				2504	0.001															1	Substitution - coding silent(1)	ovary(1)	16											111.0	100.0	103.0					16																	67995580		2198	4300	6498	66553081	SO:0001819	synonymous_variant	6560				CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.240G>A	16.37:g.67995580C>T			66553081	B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Silent	SNP	ENST00000316341.3	37	CCDS10855.1	SNP	19	Broad																																																																																				0.637	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		Silent
HYDIN	54768	broad.mit.edu	37	16	70977748	70977748	+	Silent	SNP	T	T	C			TCGA-13-1492-01	TCGA-13-1492-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1492-01	TCGA-13-1492-10	g.chr16:70977748T>C	ENST00000393567.2	-	42	6786	c.6636A>G	c.(6634-6636)gaA>gaG	p.E2212E		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2212					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.E2163E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GCACGAGAAGTTCATCCGGGA	0.647																																																1	Substitution - coding silent(1)	ovary(1)	16											33.0	34.0	34.0					16																	70977748		2035	4183	6218	69535249	SO:0001819	synonymous_variant	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.6636A>G	16.37:g.70977748T>C			69535249	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	CCDS59269.1	SNP	60	Broad																																																																																				0.647	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			Silent
TP53	7157	broad.mit.edu	37	17	7578370	7578370	+	Splice_Site	SNP	C	C	A			TCGA-13-1492-01	TCGA-13-1492-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1492-01	TCGA-13-1492-10	g.chr17:7578370C>A	ENST00000269305.4	-	5	749		c.e5+1		TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(54)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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)	CAGCTGCTCACCATCGCTATC	0.632		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	68	Unknown(54)|Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	lung(12)|breast(9)|oesophagus(7)|ovary(7)|liver(7)|urinary_tract(5)|NS(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(2)|stomach(1)|soft_tissue(1)	17											48.0	46.0	47.0					17																	7578370		2203	4300	6503	7519095	SO:0001630	splice_region_variant	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.559+1G>T	17.37:g.7578370C>A			7519095	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site_SNP	SNP	ENST00000269305.4	37	CCDS11118.1	SNP	18	Broad	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713974	0.30413	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	4.7	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0738	0.59075	0.0:0.8363:0.1637:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519095	1.000000	0.71417	0.967000	0.41034	0.201000	0.24016	3.085000	0.50151	1.248000	0.43934	0.655000	0.94253	.		0.632	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	Splice_Site_SNP
CYP2F1	1572	broad.mit.edu	37	19	41633829	41633829	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1492-01	TCGA-13-1492-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1492-01	TCGA-13-1492-10	g.chr19:41633829T>C	ENST00000331105.2	+	10	1390	c.1318T>C	c.(1318-1320)Tcg>Ccg	p.S440P		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	440				S -> L (in Ref. 1; AAA52156). {ECO:0000305}.	naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.S440P(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CCTGGGAGAGTCGCTGGCGCG	0.637																																																1	Substitution - Missense(1)	ovary(1)	19											14.0	16.0	15.0					19																	41633829		2198	4290	6488	46325669	SO:0001583	missense	1572			J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.1318T>C	19.37:g.41633829T>C	ENSP00000333534:p.Ser440Pro		46325669	A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP	ENST00000331105.2	37	CCDS12572.1	SNP	58	Broad	.	.	.	.	.	.	.	.	.	.	t	12.15	1.852893	0.32699	.	.	ENSG00000197446	ENST00000331105	T	0.68181	-0.31	3.1	-4.54	0.03452	.	0.339990	0.27782	N	0.017875	T	0.44414	0.1292	N	0.25789	0.76	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.20739	-1.0266	10	0.66056	D	0.02	.	6.6044	0.22718	0.0:0.3678:0.4542:0.178	.	440	P24903	CP2F1_HUMAN	P	440	ENSP00000333534:S440P	ENSP00000333534:S440P	S	+	1	0	CYP2F1	46325669	0.000000	0.05858	0.407000	0.26434	0.347000	0.29111	-0.645000	0.05409	-0.948000	0.03668	0.076000	0.15429	TCG		0.637	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			Missense_Mutation
DACT3	147906	broad.mit.edu	37	19	47151966	47151966	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1492-01	TCGA-13-1492-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1492-01	TCGA-13-1492-10	g.chr19:47151966C>T	ENST00000391916.2	-	4	1736	c.1663G>A	c.(1663-1665)Gga>Aga	p.G555R	DACT3_ENST00000300875.4_Missense_Mutation_p.G330R	NM_145056.2	NP_659493.2	Q96B18	DACT3_HUMAN	dishevelled-binding antagonist of beta-catenin 3	555					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)	p.G330R(1)		lung(1)	1		Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000173)|all cancers(93;0.000464)|Epithelial(262;0.02)|GBM - Glioblastoma multiforme(486;0.0325)		GGCGATTCTCCCTCGCTGGCG	0.751																																																1	Substitution - Missense(1)	ovary(1)	19											14.0	19.0	17.0					19																	47151966		2186	4266	6452	51843806	SO:0001583	missense	147906				CCDS12688.2, CCDS74402.1	19q13.32	2013-05-15	2013-05-15	2006-09-25	ENSG00000197380	ENSG00000197380			30745	protein-coding gene	gene with protein product		611112	"""arginine rich region 1"", ""dapper, antagonist of beta-catenin, homolog 3 (Xenopus laevis)"""	RRR1		16881060	Standard	NM_145056		Approved	MGC15476, DAPPER3	uc010ekq.3	Q96B18	OTTHUMG00000153070	ENST00000391916.2:c.1663G>A	19.37:g.47151966C>T	ENSP00000375783:p.Gly555Arg		51843806		Missense_Mutation	SNP	ENST00000391916.2	37	CCDS12688.2	SNP	22	Broad	.	.	.	.	.	.	.	.	.	.	C	14.67	2.605260	0.46423	.	.	ENSG00000197380	ENST00000391916;ENST00000300875	T;T	0.42513	0.97;0.97	2.99	2.99	0.34606	.	0.207947	0.19698	U	0.108119	T	0.42404	0.1201	N	0.24115	0.695	0.80722	D	1	D	0.57899	0.981	P	0.57101	0.813	T	0.42666	-0.9438	10	0.62326	D	0.03	-2.6325	11.7444	0.51811	0.0:1.0:0.0:0.0	.	555	Q96B18	DACT3_HUMAN	R	555;330	ENSP00000375783:G555R;ENSP00000300875:G330R	ENSP00000300875:G330R	G	-	1	0	DACT3	51843806	1.000000	0.71417	0.987000	0.45799	0.209000	0.24338	6.654000	0.74387	1.646000	0.50622	0.289000	0.19496	GGA		0.751	DACT3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000334090.1	NM_145056		Missense_Mutation
KCNF1	3754	broad.mit.edu	37	2	11053305	11053305	+	Silent	SNP	G	G	A			TCGA-13-1492-01	TCGA-13-1492-10			G	A	G	G	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-1492-01	TCGA-13-1492-10	g.chr2:11053305G>A	ENST00000295082.1	+	1	1243	c.753G>A	c.(751-753)gcG>gcA	p.A251A		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	251					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)	p.A251A(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		TGCACTTCGCGCTGTCCTTCA	0.612																																																1	Substitution - coding silent(1)	ovary(1)	2											96.0	79.0	85.0					2																	11053305		2203	4300	6503	10970756	SO:0001819	synonymous_variant	3754			AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.753G>A	2.37:g.11053305G>A			10970756	O43527|Q585L3	Silent	SNP	ENST00000295082.1	37	CCDS1676.1	SNP	38	Broad																																																																																				0.612	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	NM_002236		Silent
STAMBP	10617	broad.mit.edu	37	2	74076511	74076511	+	Missense_Mutation	SNP	G	G	A	rs146601260		TCGA-13-1492-01	TCGA-13-1492-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1492-01	TCGA-13-1492-10	g.chr2:74076511G>A	ENST00000394070.2	+	6	1267	c.764G>A	c.(763-765)cGc>cAc	p.R255H	STAMBP_ENST00000339566.3_Missense_Mutation_p.R255H|STAMBP_ENST00000409707.1_Missense_Mutation_p.R255H|STAMBP_ENST00000536064.1_Missense_Mutation_p.A195T|STAMBP_ENST00000394073.1_Missense_Mutation_p.R255H	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	255	MPN.				JAK-STAT cascade (GO:0007259)|mitotic cytokinesis (GO:0000281)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of cell proliferation (GO:0008284)|protein deubiquitination (GO:0016579)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|ubiquitin-specific protease activity (GO:0004843)	p.R255H(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						GATGGATTGCGCCATGTGGTG	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		16961	0.0		0.001	False		,,,				2504	0.0															1	Substitution - Missense(1)	ovary(1)	2						G	HIS/ARG,HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	110.0	103.0	105.0		764,764,764	4.4	1.0	2	dbSNP_134	105	17,8583	12.6+/-44.7	0,17,4283	yes	missense,missense,missense	STAMBP	NM_006463.4,NM_201647.2,NM_213622.2	29,29,29	0,19,6484	AA,AG,GG		0.1977,0.0454,0.1461	probably-damaging,probably-damaging,probably-damaging	255/425,255/425,255/425	74076511	19,12987	2203	4300	6503	73930019	SO:0001583	missense	10617			BC007682	CCDS1929.1	2p24.3-p24.1	2008-02-05			ENSG00000124356	ENSG00000124356			16950	protein-coding gene	gene with protein product		606247				10383417	Standard	NM_006463		Approved	AMSH	uc002sjs.3	O95630	OTTHUMG00000129817	ENST00000394070.2:c.764G>A	2.37:g.74076511G>A	ENSP00000377633:p.Arg255His		73930019	B5M0B6|D6W5H7|Q3MJE7	Missense_Mutation	SNP	ENST00000394070.2	37	CCDS1929.1	SNP	38	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.9|21.9	4.217497|4.217497	0.79352|0.79352	4.54E-4|4.54E-4	0.001977|0.001977	ENSG00000124356|ENSG00000124356	ENST00000536064|ENST00000339566;ENST00000539933;ENST00000409707;ENST00000432295;ENST00000394073;ENST00000394070	T|T;T;T;T;T	0.48836|0.56275	0.8|0.47;0.47;0.91;0.47;0.47	5.24|5.24	4.36|4.36	0.52297|0.52297	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.70046|0.70046	0.3179|0.3179	M|M	0.85099|0.85099	2.735|2.735	0.80722|0.80722	D|D	1|1	.|D	.|0.71674	.|0.998	.|P	.|0.58391	.|0.838	T|T	0.76019|0.76019	-0.3112|-0.3112	7|10	0.52906|0.66056	T|D	0.07|0.02	-1.533|-1.533	12.8946|12.8946	0.58091|0.58091	0.0794:0.0:0.9206:0.0|0.0794:0.0:0.9206:0.0	.|.	.|255	.|O95630	.|STABP_HUMAN	T|H	195|255	ENSP00000443502:A195T|ENSP00000344742:R255H;ENSP00000386548:R255H;ENSP00000413874:R255H;ENSP00000377636:R255H;ENSP00000377633:R255H	ENSP00000443502:A195T|ENSP00000344742:R255H	A|R	+|+	1|2	0|0	STAMBP|STAMBP	73930019|73930019	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.569000|0.569000	0.35902|0.35902	9.578000|9.578000	0.98200|0.98200	1.472000|1.472000	0.48140|0.48140	-0.141000|-0.141000	0.14075|0.14075	GCC|CGC		0.567	STAMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252048.2	NM_006463		Missense_Mutation
NEB	4703	broad.mit.edu	37	2	152393705	152393705	+	Missense_Mutation	SNP	A	A	C			TCGA-13-1492-01	TCGA-13-1492-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1492-01	TCGA-13-1492-10	g.chr2:152393705A>C	ENST00000172853.10	-	113	16192	c.16045T>G	c.(16045-16047)Tat>Gat	p.Y5349D	NEB_ENST00000409198.1_Missense_Mutation_p.Y5349D|NEB_ENST00000603639.1_Missense_Mutation_p.Y7050D|NEB_ENST00000604864.1_Missense_Mutation_p.Y7050D|NEB_ENST00000397345.3_Missense_Mutation_p.Y7050D|NEB_ENST00000427231.2_Missense_Mutation_p.Y7050D			P20929	NEBU_HUMAN	nebulin	5349					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.Y5349D(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCATAGGCATAGCAACCAATG	0.398																																																1	Substitution - Missense(1)	ovary(1)	2											97.0	91.0	93.0					2																	152393705		1861	4095	5956	152101951	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.16045T>G	2.37:g.152393705A>C	ENSP00000172853:p.Tyr5349Asp		152101951	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		SNP	15	Broad	.	.	.	.	.	.	.	.	.	.	A	27.2	4.812961	0.90707	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853;ENST00000420924	T;T;T;T;T;T	0.12774	3.2;2.65;3.12;3.19;3.2;2.97	6.07	6.07	0.98685	.	0.109676	0.64402	D	0.000005	T	0.34861	0.0912	M	0.63843	1.955	0.80722	D	1	D;D	0.76494	0.999;0.99	D;D	0.70487	0.969;0.958	T	0.01360	-1.1375	10	0.41790	T	0.15	.	16.3011	0.82816	1.0:0.0:0.0:0.0	.	5349;1780	P20929;Q14215	NEBU_HUMAN;.	D	5349;7050;7050;1398;1780;5349;138	ENSP00000386259:Y5349D;ENSP00000380505:Y7050D;ENSP00000416578:Y7050D;ENSP00000410961:Y1780D;ENSP00000172853:Y5349D;ENSP00000405167:Y138D	ENSP00000172853:Y5349D	Y	-	1	0	NEB	152101951	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.937000	0.92936	2.330000	0.79161	0.528000	0.53228	TAT		0.398	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		Missense_Mutation
ANKEF1	63926	broad.mit.edu	37	20	10030770	10030770	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1492-01	TCGA-13-1492-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1492-01	TCGA-13-1492-10	g.chr20:10030770T>A	ENST00000378380.3	+	6	1882	c.1553T>A	c.(1552-1554)gTg>gAg	p.V518E	SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.V518E|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	518							calcium ion binding (GO:0005509)	p.V518E(1)									GGAATACCTGTGGATATGAAG	0.388																																																1	Substitution - Missense(1)	ovary(1)	20											65.0	66.0	66.0					20																	10030770		2203	4300	6503	9978770	SO:0001583	missense	63926			AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"""EF-hand domain containing"", ""Ankyrin repeat domain containing"""	15803	protein-coding gene	gene with protein product			"""ankyrin repeat domain 5"""	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.1553T>A	20.37:g.10030770T>A	ENSP00000367631:p.Val518Glu		9978770	B3KUQ0|Q9H6Y9	Missense_Mutation	SNP	ENST00000378380.3	37	CCDS13108.1	SNP	59	Broad	.	.	.	.	.	.	.	.	.	.	T	24.3	4.518635	0.85495	.	.	ENSG00000132623	ENST00000378392;ENST00000378380	T;T	0.69685	-0.42;-0.42	5.77	5.77	0.91146	Ankyrin repeat-containing domain (4);	0.052206	0.85682	D	0.000000	D	0.85492	0.5709	M	0.91459	3.21	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	D	0.88482	0.3069	10	0.66056	D	0.02	-1.0533	16.3948	0.83586	0.0:0.0:0.0:1.0	.	518	Q9NU02	ANKR5_HUMAN	E	518	ENSP00000367644:V518E;ENSP00000367631:V518E	ENSP00000367631:V518E	V	+	2	0	ANKRD5	9978770	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.154000	0.77437	2.326000	0.78906	0.533000	0.62120	GTG		0.388	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	NM_022096		Missense_Mutation
DIP2A	23181	broad.mit.edu	37	21	47959829	47959829	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1492-01	TCGA-13-1492-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1492-01	TCGA-13-1492-10	g.chr21:47959829A>G	ENST00000417564.2	+	17	1982	c.1961A>G	c.(1960-1962)cAg>cGg	p.Q654R	DIP2A_ENST00000427143.2_Missense_Mutation_p.Q590R|DIP2A_ENST00000457905.3_Missense_Mutation_p.Q654R|DIP2A_ENST00000466639.1_Missense_Mutation_p.Q611R|DIP2A_ENST00000435722.3_Missense_Mutation_p.Q654R|DIP2A_ENST00000318711.7_Missense_Mutation_p.Q655R|DIP2A_ENST00000400274.1_Missense_Mutation_p.Q650R			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	654					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.Q655R(1)		cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		AACGTCTTCCAGTCCAGAGGT	0.577																																																1	Substitution - Missense(1)	ovary(1)	21											147.0	156.0	153.0					21																	47959829		2127	4231	6358	46784257	SO:0001583	missense	23181			AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.1961A>G	21.37:g.47959829A>G	ENSP00000392066:p.Gln654Arg		46784257	A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	CCDS46655.1	SNP	7	Broad	.	.	.	.	.	.	.	.	.	.	A	19.49	3.837985	0.71373	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T;T	0.10288	2.89;2.89;2.89;2.89;2.89;2.89;2.89	4.64	4.64	0.57946	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.27765	0.0683	L	0.59436	1.845	0.80722	D	1	P;P;D;D;D;P;B	0.69078	0.749;0.805;0.997;0.985;0.985;0.746;0.244	P;P;D;D;D;B;B	0.77557	0.838;0.542;0.99;0.955;0.944;0.43;0.202	T	0.00958	-1.1500	10	0.45353	T	0.12	-18.8509	13.2433	0.60010	1.0:0.0:0.0:0.0	.	655;590;611;590;654;654;654	E9PER1;E7EMA5;Q14689-3;B4E0F0;Q14689;Q14689-4;Q14689-2	.;.;.;.;DIP2A_HUMAN;.;.	R	650;590;655;611;654;611;654;654	ENSP00000383133:Q650R;ENSP00000400528:Q590R;ENSP00000323633:Q655R;ENSP00000393434:Q654R;ENSP00000430249:Q611R;ENSP00000415089:Q654R;ENSP00000392066:Q654R	ENSP00000323633:Q655R	Q	+	2	0	DIP2A	46784257	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.090000	0.94144	1.724000	0.51502	0.533000	0.62120	CAG		0.577	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		Missense_Mutation
TUBGCP6	85378	broad.mit.edu	37	22	50658083	50658083	+	Silent	SNP	G	G	A	rs528159783		TCGA-13-1492-01	TCGA-13-1492-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1492-01	TCGA-13-1492-10	g.chr22:50658083G>A	ENST00000248846.5	-	18	4409	c.4305C>T	c.(4303-4305)taC>taT	p.Y1435Y	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_Missense_Mutation_p.T1455M			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1435					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)	p.Y1435Y(1)		breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		ACATGGACTCGTAACTGTCCG	0.677																																																1	Substitution - coding silent(1)	ovary(1)	22											68.0	58.0	62.0					22																	50658083		2203	4300	6503	49000210	SO:0001819	synonymous_variant	85378			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.4305C>T	22.37:g.50658083G>A			49000210	Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	37	CCDS14087.1	SNP	40	Broad	.	.	.	.	.	.	.	.	.	.	G	3.708	-0.060082	0.07317	.	.	ENSG00000128159	ENST00000439308	T	0.13538	2.58	5.22	-0.933	0.10431	.	.	.	.	.	T	0.15219	0.0367	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30446	-0.9978	6	0.87932	D	0	.	6.5063	0.22196	0.4588:0.0:0.4261:0.1151	.	.	.	.	M	1455	ENSP00000397387:T1455M	ENSP00000397387:T1455M	T	-	2	0	TUBGCP6	49000210	0.981000	0.34729	0.884000	0.34674	0.062000	0.15995	0.173000	0.16724	-0.048000	0.13401	-0.291000	0.09656	ACG		0.677	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		Silent
MLH1	4292	broad.mit.edu	37	3	37042536	37042536	+	Nonsense_Mutation	SNP	C	C	T	rs63751221|rs63751691		TCGA-13-1492-01	TCGA-13-1492-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1492-01	TCGA-13-1492-10	g.chr3:37042536C>T	ENST00000231790.2	+	3	514	c.298C>T	c.(298-300)Cga>Tga	p.R100*	MLH1_ENST00000536378.1_5'UTR|MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000435176.1_Silent_p.F3F|MLH1_ENST00000492474.1_3'UTR|MLH1_ENST00000539477.1_5'UTR|MLH1_ENST00000458205.2_5'UTR	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	100					ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.R100*(3)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						CTATGGCTTTCGAGGTGAGGT	0.343		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	E.coli MutL homolog gene		"""E, O"""	3	Substitution - Nonsense(3)	haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	GRCh37	CM990855	MLH1	M							128.0	128.0	128.0					3																	37042536		2203	4300	6503	37017540	SO:0001587	stop_gained	4292	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.298C>T	3.37:g.37042536C>T	ENSP00000231790:p.Arg100*		37017540	B4DI13|B4DQ11|E9PCU2	Nonsense_Mutation	SNP	ENST00000231790.2	37	CCDS2663.1	SNP	31	Broad	.	.	.	.	.	.	.	.	.	.	C	29.3	4.997777	0.93227	.	.	ENSG00000076242	ENST00000231790;ENST00000436867;ENST00000537937	.	.	.	5.91	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.7529	13.5313	0.61623	0.2309:0.769:0.0:0.0	rs63751221	.	.	.	X	100;66;66	.	ENSP00000231790:R100X	R	+	1	2	MLH1	37017540	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.464000	0.53057	2.802000	0.96397	0.655000	0.94253	CGA		0.343	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		Nonsense_Mutation
CYP8B1	1582	broad.mit.edu	37	3	42917233	42917233	+	Nonsense_Mutation	SNP	G	G	A	rs368202001		TCGA-13-1492-01	TCGA-13-1492-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1492-01	TCGA-13-1492-10	g.chr3:42917233G>A	ENST00000316161.4	-	1	400	c.76C>T	c.(76-78)Cga>Tga	p.R26*	RP11-141M3.5_ENST00000471537.1_RNA|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Nonsense_Mutation_p.R26*	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	26					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity (GO:0033778)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|sterol 12-alpha-hydroxylase activity (GO:0008397)	p.R26*(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CTGCGTTGTCGGAGCATCCCT	0.582																																																1	Substitution - Nonsense(1)	ovary(1)	3						G	stop/ARG	2,4404		0,2,2201	40.0	40.0	40.0		76	0.7	0.0	3		40	0,8600		0,0,4300	no	stop-gained	CYP8B1	NM_004391.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		26/502	42917233	2,13004	2203	4300	6503	42892237	SO:0001587	stop_gained	1582			AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432		"""Cytochrome P450s"""	2653	protein-coding gene	gene with protein product		602172	"""cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1"""			10051404	Standard	NM_004391		Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000316161.4:c.76C>T	3.37:g.42917233G>A	ENSP00000318867:p.Arg26*		42892237	B2RCY3|O75958|Q6NWT2|Q6NWT3	Nonsense_Mutation	SNP	ENST00000316161.4	37	CCDS2707.1	SNP	39	Broad	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098234	0.56183	4.54E-4	0.0	ENSG00000180432	ENST00000437102;ENST00000316161	.	.	.	4.89	0.676	0.17958	.	0.068899	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.8843	7.9069	0.29767	0.0769:0.0:0.5181:0.405	.	.	.	.	X	26	.	ENSP00000318867:R26X	R	-	1	2	CYP8B1	42892237	1.000000	0.71417	0.017000	0.16124	0.123000	0.20343	3.113000	0.50376	-0.058000	0.13177	0.561000	0.74099	CGA		0.582	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256653.1	NM_004391		Nonsense_Mutation
TTC14	151613	broad.mit.edu	37	3	180327949	180327949	+	Silent	SNP	T	T	C			TCGA-13-1492-01	TCGA-13-1492-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1492-01	TCGA-13-1492-10	g.chr3:180327949T>C	ENST00000296015.4	+	12	2064	c.1932T>C	c.(1930-1932)taT>taC	p.Y644Y	TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000382584.4_Intron|TTC14_ENST00000465625.1_3'UTR	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	644							RNA binding (GO:0003723)	p.Y644Y(1)		endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTTATGGTTATAGGAGATTTG	0.388																																																1	Substitution - coding silent(1)	ovary(1)	3											68.0	76.0	73.0					3																	180327949		2202	4296	6498	181810643	SO:0001819	synonymous_variant	151613			AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.1932T>C	3.37:g.180327949T>C			181810643	G5E9X0|Q6UWJ7|Q8TF22	Silent	SNP	ENST00000296015.4	37	CCDS3237.1	SNP	49	Broad																																																																																				0.388	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		Silent
KIT	3815	broad.mit.edu	37	4	55604659	55604659	+	Missense_Mutation	SNP	G	G	A	rs139694927		TCGA-13-1492-01	TCGA-13-1492-10			G	A	G	G	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-1492-01	TCGA-13-1492-10	g.chr4:55604659G>A	ENST00000288135.5	+	21	2964	c.2867G>A	c.(2866-2868)cGg>cAg	p.R956Q		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	956					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R956Q(1)|p.R956L(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CATTCTGTGCGGATCAATTCT	0.532		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"""L, M, O, E"""	2	Substitution - Missense(2)	ovary(1)|lung(1)	4						G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	133.0	128.0	130.0		2867,2855	5.7	1.0	4	dbSNP_134	130	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KIT	NM_000222.2,NM_001093772.1	43,43	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	956/977,952/973	55604659	2,13004	2203	4300	6503	55299416	SO:0001583	missense	3815	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2867G>A	4.37:g.55604659G>A	ENSP00000288135:p.Arg956Gln		55299416	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	SNP	39	Broad	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486931	0.84854	2.27E-4	1.16E-4	ENSG00000157404	ENST00000288135;ENST00000412167	T;T	0.77098	-1.07;-1.07	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000015	D	0.87712	0.6246	M	0.70275	2.135	0.58432	D	0.999993	D;D	0.89917	0.993;1.0	P;D	0.85130	0.836;0.997	D	0.88115	0.2828	10	0.66056	D	0.02	.	17.6745	0.88226	0.0:0.0:1.0:0.0	.	952;956	P10721-2;P10721	.;KIT_HUMAN	Q	956;952	ENSP00000288135:R956Q;ENSP00000390987:R952Q	ENSP00000288135:R956Q	R	+	2	0	KIT	55299416	1.000000	0.71417	0.995000	0.50966	0.202000	0.24057	8.247000	0.89830	2.706000	0.92434	0.561000	0.74099	CGG		0.532	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			Missense_Mutation
NUP155	9631	broad.mit.edu	37	5	37318111	37318111	+	Nonsense_Mutation	SNP	C	C	A			TCGA-13-1492-01	TCGA-13-1492-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1492-01	TCGA-13-1492-10	g.chr5:37318111C>A	ENST00000231498.3	-	21	2487	c.2284G>T	c.(2284-2286)Gaa>Taa	p.E762*	NUP155_ENST00000513532.1_Nonsense_Mutation_p.E762*|NUP155_ENST00000381843.2_Nonsense_Mutation_p.E703*	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	762					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)	p.E762*(1)		endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTCTGCAGTTCCTGTTGCATT	0.388																																																1	Substitution - Nonsense(1)	ovary(1)	5											208.0	196.0	200.0					5																	37318111		2203	4300	6503	37353868	SO:0001587	stop_gained	9631			AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.2284G>T	5.37:g.37318111C>A	ENSP00000231498:p.Glu762*		37353868	Q9UBE9|Q9UFL5	Nonsense_Mutation	SNP	ENST00000231498.3	37	CCDS3921.1	SNP	30	Broad	.	.	.	.	.	.	.	.	.	.	C	40	8.044425	0.98627	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	.	.	.	5.41	5.41	0.78517	.	0.147803	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	17.3652	0.87362	0.0:1.0:0.0:0.0	.	.	.	.	X	762;703;724;762	.	ENSP00000231498:E762X	E	-	1	0	NUP155	37353868	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.696000	0.74598	2.533000	0.85409	0.579000	0.79373	GAA		0.388	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		Nonsense_Mutation
UBR2	23304	broad.mit.edu	37	6	42623407	42623407	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1492-01	TCGA-13-1492-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1492-01	TCGA-13-1492-10	g.chr6:42623407G>C	ENST00000372899.1	+	26	3076	c.2818G>C	c.(2818-2820)Gag>Cag	p.E940Q	UBR2_ENST00000372883.3_Missense_Mutation_p.E444Q|UBR2_ENST00000372901.1_Missense_Mutation_p.E940Q	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	940					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E940Q(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ACAACATTTAGAGAATGTCAC	0.269																																																1	Substitution - Missense(1)	ovary(1)	6											88.0	83.0	85.0					6																	42623407		2203	4282	6485	42731385	SO:0001583	missense	23304			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.2818G>C	6.37:g.42623407G>C	ENSP00000361990:p.Glu940Gln		42731385	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	CCDS4870.1	SNP	33	Broad	.	.	.	.	.	.	.	.	.	.	G	5.744	0.321751	0.10845	.	.	ENSG00000024048	ENST00000372899;ENST00000372901;ENST00000372883	T;T;T	0.59502	0.26;0.26;0.43	5.96	5.96	0.96718	.	0.101123	0.64402	D	0.000002	T	0.24353	0.0590	N	0.13235	0.315	0.45490	D	0.99845	B;B	0.21821	0.061;0.003	B;B	0.18871	0.023;0.004	T	0.11397	-1.0589	10	0.14656	T	0.56	-20.5992	15.8507	0.78927	0.0:0.1349:0.8651:0.0	.	940;940	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	Q	940;940;444	ENSP00000361990:E940Q;ENSP00000361992:E940Q;ENSP00000361974:E444Q	ENSP00000361974:E444Q	E	+	1	0	UBR2	42731385	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.138000	0.64795	2.831000	0.97527	0.650000	0.86243	GAG		0.269	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		Missense_Mutation
CUL7	9820	broad.mit.edu	37	6	43013354	43013354	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1492-01	TCGA-13-1492-10			T	C	T	T	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-1492-01	TCGA-13-1492-10	g.chr6:43013354T>C	ENST00000265348.3	-	14	2918	c.2833A>G	c.(2833-2835)Atc>Gtc	p.I945V	CUL7_ENST00000478630.1_5'UTR|CUL7_ENST00000535468.1_Missense_Mutation_p.I1029V			Q14999	CUL7_HUMAN	cullin 7	945	DOC. {ECO:0000255|PROSITE- ProRule:PRU00614}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.I945V(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CGGATCTGGATGATGGGCCAG	0.617																																																1	Substitution - Missense(1)	ovary(1)	6											67.0	63.0	64.0					6																	43013354		2203	4300	6503	43121332	SO:0001583	missense	9820			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.2833A>G	6.37:g.43013354T>C	ENSP00000265348:p.Ile945Val		43121332	B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	CCDS4881.1	SNP	51	Broad	.	.	.	.	.	.	.	.	.	.	T	14.60	2.583263	0.46006	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.60672	0.17;0.17	5.11	0.724	0.18236	Anaphase-promoting complex, subunit 10/DOC domain (2);Galactose-binding domain-like (1);	0.281791	0.26963	N	0.021604	T	0.28599	0.0708	L	0.43646	1.37	0.80722	D	1	B;B;B	0.19583	0.037;0.018;0.004	B;B;B	0.24269	0.016;0.052;0.042	T	0.13764	-1.0497	10	0.48119	T	0.1	-3.5056	7.9388	0.29946	0.0:0.0762:0.2714:0.6524	.	1029;1029;945	F5H0L1;B4DYZ0;Q14999	.;.;CUL7_HUMAN	V	945;1029	ENSP00000265348:I945V;ENSP00000438788:I1029V	ENSP00000265348:I945V	I	-	1	0	CUL7	43121332	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	2.113000	0.41902	0.238000	0.21222	0.533000	0.62120	ATC		0.617	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		Missense_Mutation
PRSS35	167681	broad.mit.edu	37	6	84233321	84233321	+	Missense_Mutation	SNP	C	C	T	rs372906386		TCGA-13-1492-01	TCGA-13-1492-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1492-01	TCGA-13-1492-10	g.chr6:84233321C>T	ENST00000369700.3	+	2	338	c.161C>T	c.(160-162)gCt>gTt	p.A54V	PRSS35_ENST00000536636.1_Missense_Mutation_p.A54V	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	54						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)	p.A54V(1)		breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GAGGCAGATGCTAAGATGATG	0.458																																																1	Substitution - Missense(1)	ovary(1)	6											131.0	128.0	129.0					6																	84233321		2203	4300	6503	84290040	SO:0001583	missense	167681			BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"""Serine peptidases / Serine peptidases"""	21387	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 158"""	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.161C>T	6.37:g.84233321C>T	ENSP00000358714:p.Ala54Val		84290040	A8K7B3|Q9BQP6	Missense_Mutation	SNP	ENST00000369700.3	37	CCDS4999.1	SNP	28	Broad	.	.	.	.	.	.	.	.	.	.	C	4.159	0.027903	0.08054	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	T;T	0.47528	0.84;0.84	5.32	3.45	0.39498	.	0.715124	0.13204	N	0.405685	T	0.22975	0.0555	M	0.62016	1.91	0.09310	N	1	B	0.28713	0.22	B	0.21708	0.036	T	0.12734	-1.0536	10	0.34782	T	0.22	-5.1511	9.6723	0.40019	0.0:0.5145:0.4121:0.0734	.	54	Q8N3Z0	PRS35_HUMAN	V	54	ENSP00000440870:A54V;ENSP00000358714:A54V	ENSP00000358714:A54V	A	+	2	0	PRSS35	84290040	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	1.749000	0.38319	0.567000	0.29293	0.555000	0.69702	GCT		0.458	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	NM_153362		Missense_Mutation
ABCA13	154664	broad.mit.edu	37	7	48318490	48318490	+	Nonsense_Mutation	SNP	C	C	T			TCGA-13-1492-01	TCGA-13-1492-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1492-01	TCGA-13-1492-10	g.chr7:48318490C>T	ENST00000435803.1	+	18	7723	c.7699C>T	c.(7699-7701)Caa>Taa	p.Q2567*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2567					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.Q2512*(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACAAAGTGTTCAAAATCTTGT	0.328																																																1	Substitution - Nonsense(1)	ovary(1)	7											75.0	80.0	78.0					7																	48318490		1820	4051	5871	48289036	SO:0001587	stop_gained	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.7699C>T	7.37:g.48318490C>T	ENSP00000411096:p.Gln2567*		48289036	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Nonsense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	SNP	29	Broad	.	.	.	.	.	.	.	.	.	.	C	48	13.998168	0.99774	.	.	ENSG00000179869	ENST00000435803	.	.	.	4.93	4.04	0.47022	.	0.516062	0.16193	N	0.225282	.	.	.	.	.	.	0.22017	N	0.999415	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	11.2594	0.49074	0.0:0.8151:0.1849:0.0	.	.	.	.	X	2567	.	ENSP00000411096:Q2567X	Q	+	1	0	ABCA13	48289036	0.001000	0.12720	0.012000	0.15200	0.672000	0.39443	0.452000	0.21795	1.058000	0.40530	0.655000	0.94253	CAA		0.328	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		Nonsense_Mutation
TFR2	7036	broad.mit.edu	37	7	100218710	100218710	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1492-01	TCGA-13-1492-10			C	T	C	C	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-1492-01	TCGA-13-1492-10	g.chr7:100218710C>T	ENST00000462107.1	-	19	2463	c.2176G>A	c.(2176-2178)Gac>Aac	p.D726N	TFR2_ENST00000223051.3_Missense_Mutation_p.D726N|TFR2_ENST00000544242.1_Missense_Mutation_p.D267N|TFR2_ENST00000431692.1_3'UTR			Q9UP52	TFR2_HUMAN	transferrin receptor 2	726					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)	p.D726N(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	AACGGGGAGTCGGCTGGCGAC	0.672																																																1	Substitution - Missense(1)	ovary(1)	7											18.0	21.0	20.0					7																	100218710		2151	4237	6388	100056646	SO:0001583	missense	7036			AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.2176G>A	7.37:g.100218710C>T	ENSP00000420525:p.Asp726Asn		100056646	A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Missense_Mutation	SNP	ENST00000462107.1	37	CCDS34707.1	SNP	31	Broad	.	.	.	.	.	.	.	.	.	.	C	31	5.096453	0.94197	.	.	ENSG00000106327	ENST00000223051;ENST00000462107;ENST00000544242	T;T;T	0.57595	0.39;0.39;0.39	5.39	4.44	0.53790	Transferrin receptor-like, dimerisation domain (3);	0.246278	0.40385	N	0.001113	T	0.54334	0.1852	L	0.29908	0.895	0.80722	D	1	D	0.69078	0.997	P	0.59761	0.863	T	0.55717	-0.8097	10	0.72032	D	0.01	-34.0393	10.8869	0.46972	0.0:0.9026:0.0:0.0974	.	726	Q9UP52	TFR2_HUMAN	N	726;726;267	ENSP00000223051:D726N;ENSP00000420525:D726N;ENSP00000443656:D267N	ENSP00000223051:D726N	D	-	1	0	TFR2	100056646	0.998000	0.40836	0.998000	0.56505	0.957000	0.61999	4.220000	0.58567	2.810000	0.96702	0.650000	0.86243	GAC		0.672	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356392.3	NM_003227		Missense_Mutation
CUX1	1523	broad.mit.edu	37	7	101842108	101842108	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1492-01	TCGA-13-1492-10			C	G	C	C	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-1492-01	TCGA-13-1492-10	g.chr7:101842108C>G	ENST00000292535.7	+	16	1959	c.1921C>G	c.(1921-1923)Cta>Gta	p.L641V	CUX1_ENST00000546411.2_Missense_Mutation_p.L539V|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Intron|CUX1_ENST00000550008.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Missense_Mutation_p.L652V|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000549414.2_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	641					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.L641V(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CCTGAACAGACTATTTCAGGA	0.468																																																1	Substitution - Missense(1)	ovary(1)	7											126.0	112.0	117.0					7																	101842108		2203	4300	6503	101628828	SO:0001583	missense	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.1921C>G	7.37:g.101842108C>G	ENSP00000292535:p.Leu641Val		101628828	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	CCDS5721.1	SNP	20	Broad	.	.	.	.	.	.	.	.	.	.	C	17.60	3.429518	0.62844	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000546411	T;T;T	0.57907	0.37;0.37;0.39	5.67	5.67	0.87782	.	0.084010	0.49916	D	0.000134	T	0.48892	0.1525	L	0.46157	1.445	0.80722	D	1	B;B	0.27765	0.188;0.165	B;B	0.26416	0.031;0.069	T	0.35176	-0.9799	10	0.25751	T	0.34	-10.4976	19.1191	0.93355	0.0:1.0:0.0:0.0	.	641;652	P39880;P39880-3	CUX1_HUMAN;.	V	652;641;539	ENSP00000353401:L652V;ENSP00000292535:L641V;ENSP00000450125:L539V	ENSP00000292535:L641V	L	+	1	2	CUX1	101628828	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.433000	0.66520	2.837000	0.97791	0.655000	0.94253	CTA		0.468	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		Missense_Mutation
GRM8	2918	broad.mit.edu	37	7	126746620	126746620	+	Silent	SNP	C	C	T			TCGA-13-1492-01	TCGA-13-1492-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1492-01	TCGA-13-1492-10	g.chr7:126746620C>T	ENST00000339582.2	-	3	1465	c.657G>A	c.(655-657)tcG>tcA	p.S219S	GRM8_ENST00000405249.1_Silent_p.S219S|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Silent_p.S219S|GRM8_ENST00000358373.3_Silent_p.S219S			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	219					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.S219S(4)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				AAGCCAGTGTCGAAACATAAT	0.493										HNSCC(24;0.065)																																						4	Substitution - coding silent(4)	large_intestine(3)|ovary(1)	7											137.0	119.0	125.0					7																	126746620		2203	4300	6503	126533856	SO:0001819	synonymous_variant	2918				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.657G>A	7.37:g.126746620C>T			126533856	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	CCDS5794.1	SNP	31	Broad																																																																																				0.493	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			Silent
RHOBTB2	23221	broad.mit.edu	37	8	22864797	22864797	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1492-01	TCGA-13-1492-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1492-01	TCGA-13-1492-10	g.chr8:22864797G>A	ENST00000251822.6	+	5	1576	c.1039G>A	c.(1039-1041)Gtg>Atg	p.V347M	RHOBTB2_ENST00000522948.1_Missense_Mutation_p.V354M|RP11-875O11.1_ENST00000523884.1_RNA|RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.V369M	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	347	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.V347M(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CAGCTTTGACGTGTGCGAGAG	0.642																																																1	Substitution - Missense(1)	ovary(1)	8											44.0	50.0	48.0					8																	22864797		2203	4300	6503	22920742	SO:0001583	missense	23221			AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"""BTB/POZ domain containing"""	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.1039G>A	8.37:g.22864797G>A	ENSP00000251822:p.Val347Met		22920742	A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Missense_Mutation	SNP	ENST00000251822.6	37	CCDS6034.1	SNP	40	Broad	.	.	.	.	.	.	.	.	.	.	G	10.04	1.241573	0.22711	.	.	ENSG00000008853	ENST00000519685;ENST00000522948;ENST00000251822	T;T;T	0.10288	2.89;2.9;2.9	5.34	5.34	0.76211	BTB/POZ-like (2);BTB/POZ fold (1);	0.178015	0.49916	D	0.000137	T	0.10723	0.0262	L	0.46157	1.445	0.42711	D	0.993642	P;P;P	0.40332	0.713;0.713;0.713	B;B;B	0.35312	0.132;0.132;0.2	T	0.03443	-1.1036	10	0.52906	T	0.07	.	12.0717	0.53620	0.0839:0.0:0.9161:0.0	.	354;347;369	E9PEI7;Q9BYZ6;E9PBU2	.;RHBT2_HUMAN;.	M	369;354;347	ENSP00000427926:V369M;ENSP00000429141:V354M;ENSP00000251822:V347M	ENSP00000251822:V347M	V	+	1	0	RHOBTB2	22920742	1.000000	0.71417	0.675000	0.29917	0.090000	0.18270	4.212000	0.58514	2.463000	0.83235	0.655000	0.94253	GTG		0.642	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215101.2			Missense_Mutation
FAM135B	51059	broad.mit.edu	37	8	139163523	139163523	+	Silent	SNP	G	G	A			TCGA-13-1492-01	TCGA-13-1492-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1492-01	TCGA-13-1492-10	g.chr8:139163523G>A	ENST00000395297.1	-	13	3365	c.3195C>T	c.(3193-3195)ccC>ccT	p.P1065P		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1065								p.P1065P(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GATGGGTGATGGGAAACAGGG	0.517										HNSCC(54;0.14)																																						2	Substitution - coding silent(2)	ovary(2)	8											72.0	66.0	68.0					8																	139163523		2203	4300	6503	139232705	SO:0001819	synonymous_variant	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3195C>T	8.37:g.139163523G>A			139232705	B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	CCDS6375.2	SNP	47	Broad																																																																																				0.517	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		Silent
NUP188	23511	broad.mit.edu	37	9	131768820	131768821	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-13-1492-01	TCGA-13-1492-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1492-01	TCGA-13-1492-10	g.chr9:131768820_131768821GG>AA	ENST00000372577.2	+	44	5134_5135	c.5113_5114GG>AA	c.(5113-5115)GGa>AAa	p.G1705K	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1705					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.G1705K(1)		breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CTTCCGCCGGGGAGCCCCCAGC	0.619											OREG0019528	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	9																																								130808642	SO:0001583	missense	23511			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	Exception_encountered	9.37:g.131768820_131768821delinsAA	ENSP00000361658:p.Gly1705Lys	1590	130808641	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	DNP	ENST00000372577.2	37	CCDS35156.1	DNP	43	Broad																																																																																				0.619	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			Missense_Mutation
FAM166A	401565	broad.mit.edu	37	9	140138237	140138237	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1492-01	TCGA-13-1492-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1492-01	TCGA-13-1492-10	g.chr9:140138237A>T	ENST00000344774.4	-	7	923	c.869T>A	c.(868-870)aTg>aAg	p.M290K		NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	290						nucleus (GO:0005634)		p.M290K(1)		kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						GTTGTCCTGCATGGCTGCGGG	0.592																																																1	Substitution - Missense(1)	ovary(1)	9											162.0	140.0	148.0					9																	140138237		2203	4299	6502	139258058	SO:0001583	missense	401565			BC132916	CCDS35186.1	9q34.3	2008-08-08			ENSG00000188163	ENSG00000188163			33818	protein-coding gene	gene with protein product							Standard	XR_245332		Approved		uc004cmi.1	Q6J272	OTTHUMG00000159545	ENST00000344774.4:c.869T>A	9.37:g.140138237A>T	ENSP00000344729:p.Met290Lys		139258058	A6NND9|Q8N830	Missense_Mutation	SNP	ENST00000344774.4	37	CCDS35186.1	SNP	8	Broad	.	.	.	.	.	.	.	.	.	.	A	6.916	0.538706	0.13250	.	.	ENSG00000188163	ENST00000344774	.	.	.	5.24	2.8	0.32819	.	0.269726	0.32134	N	0.006531	T	0.35008	0.0917	L	0.46157	1.445	0.80722	D	1	B	0.29432	0.244	B	0.21917	0.037	T	0.07868	-1.0750	9	0.12430	T	0.62	-10.6004	4.1951	0.10440	0.6883:0.0:0.1624:0.1492	.	290	Q6J272	F166A_HUMAN	K	290	.	ENSP00000344729:M290K	M	-	2	0	FAM166A	139258058	0.003000	0.15002	1.000000	0.80357	0.184000	0.23303	0.390000	0.20768	0.287000	0.22375	0.459000	0.35465	ATG		0.592	FAM166A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356125.1	NM_001001710		Missense_Mutation
PTEN	5728	broad.mit.edu	37	10	89717672	89717672	+	Frame_Shift_Del	DEL	C	C	-	rs121909219		TCGA-13-1492-01	TCGA-13-1492-10			-	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	none			Illumina GAIIx	TCGA-13-1492-01	TCGA-13-1492-10	g.chr10:89717672delC	ENST00000371953.3	+	7	2054	c.697delC	c.(697-699)cgafs	p.R234fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	234	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.		R -> Q (in a patient with glioma and meningioma; not capable of inducing apoptosis; induced increased cell proliferation; led to high constitutive AKT1 activation which could not be increased further by stimulation with insulin).		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R233*(77)|p.0?(37)|p.R55fs*1(5)|p.R233fs*10(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R233fs*25(1)|p.R233fs*23(1)|p.R233R(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGGACCCACACGACGGGAAGA	0.423	R233*(HEC59_ENDOMETRIUM)|R233*(JHUEM1_ENDOMETRIUM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	133	Substitution - Nonsense(77)|Whole gene deletion(37)|Deletion - Frameshift(11)|Complex - frameshift(3)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)|Substitution - coding silent(1)	endometrium(48)|central_nervous_system(21)|prostate(17)|haematopoietic_and_lymphoid_tissue(10)|lung(9)|large_intestine(6)|skin(6)|ovary(5)|cervix(3)|soft_tissue(3)|breast(3)|urinary_tract(2)	10	GRCh37	CM971277	PTEN	M	rs121909219						155.0	133.0	141.0					10																	89717672		2203	4300	6503	89707652	SO:0001589	frameshift_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.697delC	10.37:g.89717672delC	ENSP00000361021:p.Arg234fs		89707652	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	CCDS31238.1	DEL	19	Broad																																																																																				0.423	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		Frame_Shift_Del
DAD1	1603	broad.mit.edu	37	14	23058043	23058044	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-13-1492-01	TCGA-13-1492-10							Unknown	Unknown	Unknown	Phase_I	Capture	---			Illumina GAIIx	TCGA-13-1492-01	TCGA-13-1492-10	g.chr14:23058043_23058044delAG	ENST00000250498.4	-	1	131_132	c.20_21delCT	c.(19-21)tctfs	p.S7fs	DAD1_ENST00000538631.1_Frame_Shift_Del_p.S7fs|DAD1_ENST00000543337.1_Frame_Shift_Del_p.S7fs	NM_001344.2	NP_001335.1	P61803	DAD1_HUMAN	defender against cell death 1	7					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)	p.S7fs*89(1)		large_intestine(2)|ovary(2)|prostate(1)	5	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0156)		GCGAAATGACAGACACTACCGA	0.579																																																1	Deletion - Frameshift(1)	ovary(1)	14																																								22127884	SO:0001589	frameshift_variant	1603			AK223129	CCDS9571.1	14q11.2	2013-03-06			ENSG00000129562	ENSG00000129562			2664	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 2 homolog (S. cerevisiae)"", ""oligosaccharyltransferase subunit 2 (non-catalytic)"""	600243					Standard	NM_001344		Approved	OST2	uc001wgl.2	P61803	OTTHUMG00000028685	ENST00000250498.4:c.20_21delCT	14.37:g.23058043_23058044delAG	ENSP00000250498:p.Ser7fs		22127883	D3DS25|O08552|O70364|P46966|P46968|Q6FGA3|Q96GB7	Frame_Shift_Del	DEL	ENST00000250498.4	37	CCDS9571.1	DEL	7	Broad																																																																																				0.579	DAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071617.2	NM_001344		Frame_Shift_Del
REST	5978	broad.mit.edu	37	4	57777564	57777567	+	Frame_Shift_Del	DEL	ACAT	ACAT	-			TCGA-13-1492-01	TCGA-13-1492-10							Unknown	Unknown	Unknown	Phase_I	Capture	---			Illumina GAIIx	TCGA-13-1492-01	TCGA-13-1492-10	g.chr4:57777564_57777567delACAT	ENST00000309042.7	+	2	1074_1077	c.760_763delACAT	c.(760-765)acatacfs	p.TY254fs	REST_ENST00000514063.1_3'UTR	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	254					cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Y255fs*3(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					TATCATTTGCACATACACAACAGT	0.402																																																1	Deletion - Frameshift(1)	ovary(1)	4																																								57472324	SO:0001589	frameshift_variant	5978			U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.760_763delACAT	4.37:g.57777564_57777567delACAT	ENSP00000311816:p.Thr254fs		57472321	A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Frame_Shift_Del	DEL	ENST00000309042.7	37	CCDS3509.1	DEL	6	Broad																																																																																				0.402	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		Frame_Shift_Del
TNXB	7148	broad.mit.edu	37	6	32029918	32029947	+	Splice_Site	DEL	CCCATCGTCCACTCACCTGTCACCCCGATG	CCCATCGTCCACTCACCTGTCACCCCGATG	-	rs201957485|rs204885|rs201201973	byFrequency	TCGA-13-1492-01	TCGA-13-1492-10							Unknown	Unknown	Unknown	Phase_I	Capture	---			Illumina GAIIx	TCGA-13-1492-01	TCGA-13-1492-10	g.chr6:32029918_32029947delCCCATCGTCCACTCACCTGTCACCCCGATG	ENST00000375244.3	-	20	7356_7370	c.7155_7169delCATCGGGGTGACAGGTGAGTGGACGATGGG	c.(7153-7170)gccatcggggtgacaggt>gct	p.IGVTG2386del	TNXB_ENST00000375247.2_Splice_Site_p.IGVTG2386del			P22105	TENX_HUMAN	tenascin XB	2448	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.?(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCCTGGGGCTCCCATCGTCCACTCACCTGTCACCCCGATGGCAGACACGG	0.613																																																1	Unknown(1)	ovary(1)	6																																								32137925	SO:0001630	splice_region_variant	7148			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.7168+1CATCGGGGTGACAGGTGAGTGGACGATGGG>-	6.37:g.32029918_32029947delCCCATCGTCCACTCACCTGTCACCCCGATG			32137896	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Splice_Site_Del	DEL	ENST00000375244.3	37		DEL	30	Broad																																																																																				0.613	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105	In_Frame_Del	Splice_Site_Del
SLC37A3	84255	broad.mit.edu	37	7	140048516	140048518	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-13-1492-01	TCGA-13-1492-10							Unknown	Unknown	Unknown	Phase_I	Capture	---			Illumina GAIIx	TCGA-13-1492-01	TCGA-13-1492-10	g.chr7:140048516_140048518delAGA	ENST00000326232.9	-	10	1135_1137	c.932_934delTCT	c.(931-936)ttctgg>tgg	p.F311del	SLC37A3_ENST00000340308.3_In_Frame_Del_p.F311del|SLC37A3_ENST00000429996.2_3'UTR|SLC37A3_ENST00000447932.2_In_Frame_Del_p.F311del	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	311					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.F311del(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					AAGGGGAGCCAGAAGAAGAAGGA	0.493																																					Esophageal Squamous(133;211 1716 4665 11387 37873)											1	Deletion - In frame(1)	ovary(1)	7																																								139694987	SO:0001651	inframe_deletion	84255			AK074823	CCDS5858.1, CCDS5859.1, CCDS75669.1	7q34	2013-07-17	2013-07-17		ENSG00000157800	ENSG00000157800		"""Solute carriers"""	20651	protein-coding gene	gene with protein product							Standard	NM_001287498		Approved	DKFZp761N0624	uc003vvo.3	Q8NCC5	OTTHUMG00000157343	ENST00000326232.9:c.932_934delTCT	7.37:g.140048522_140048524delAGA	ENSP00000321498:p.Phe311del		139694985	Q6PIU7|Q86SS4|Q9BQG7	In_Frame_Del	DEL	ENST00000326232.9	37	CCDS5859.1	DEL	7	Broad																																																																																				0.493	SLC37A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348492.1	NM_032295		In_Frame_Del
