#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_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
ABCC5	10057	hgsc.bcm.edu	37	3	183639099	183639099	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	SOLID			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr3:183639099C>G	ENST00000334444.6	-	30	4543	c.4303G>C	c.(4303-4305)Gtc>Ctc	p.V1435L	ABCC5_ENST00000265586.6_Missense_Mutation_p.V1392L	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1435					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.V1435L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	CAGCCCTTGACAGCGACCTTG	0.552																																																1	Substitution - Missense(1)	ovary(1)	3											105.0	117.0	113.0					3																	183639099		2163	4271	6434	185121793	SO:0001583	missense	10057			AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.4303G>C	3.37:g.183639099C>G	ENSP00000333926:p.Val1435Leu		185121793	B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.079080	0.55753	.	.	ENSG00000114770	ENST00000334444;ENST00000265586	D;D	0.91237	-2.65;-2.81	5.18	5.18	0.71444	.	0.000000	0.47455	D	0.000226	D	0.82669	0.5087	N	0.02802	-0.49	0.49130	D	0.999755	D;B	0.53151	0.958;0.073	P;B	0.45406	0.479;0.027	D	0.87596	0.2494	10	0.62326	D	0.03	-13.0384	18.6841	0.91557	0.0:1.0:0.0:0.0	.	1392;1435	Q86UX3;O15440	.;MRP5_HUMAN	L	1435;1392	ENSP00000333926:V1435L;ENSP00000265586:V1392L	ENSP00000265586:V1392L	V	-	1	0	ABCC5	185121793	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	5.327000	0.65881	2.399000	0.81585	0.655000	0.94253	GTC		0.552	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688	
CLCN4	1183	hgsc.bcm.edu	37	X	10153170	10153170	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	SOLID			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chrX:10153170T>A	ENST00000380833.4	+	3	489	c.98T>A	c.(97-99)aTc>aAc	p.I33N	CLCN4_ENST00000380829.1_Missense_Mutation_p.I33N|CLCN4_ENST00000421085.2_Intron	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	33					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.I33N(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTCCACACCATCGACTGGCTA	0.527																																					Melanoma(74;1050 1296 1576 30544 38374)											1	Substitution - Missense(1)	ovary(1)	X											154.0	109.0	124.0					X																	10153170		2203	4300	6503	10113170	SO:0001583	missense	1183			X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"""Ion channels / Chloride channels : Voltage-sensitive"""	2022	protein-coding gene	gene with protein product		302910	"""chloride channel 4"""			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.98T>A	X.37:g.10153170T>A	ENSP00000370213:p.Ile33Asn		10113170	A1L3U1|B7Z5Z4|Q9UBU1	Missense_Mutation	SNP	ENST00000380833.4	37	CCDS14137.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.752710	0.89753	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000454850	D;D;T	0.92545	-3.06;-3.06;0.85	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.96790	0.8952	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.97637	1.0146	10	0.87932	D	0	-33.4038	13.7972	0.63177	0.0:0.0:0.0:1.0	.	33	P51793	CLCN4_HUMAN	N	33	ENSP00000370213:I33N;ENSP00000370209:I33N;ENSP00000403064:I33N	ENSP00000370209:I33N	I	+	2	0	CLCN4	10113170	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	7.837000	0.86796	1.788000	0.52465	0.481000	0.45027	ATC		0.527	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1		
LRP1	4035	hgsc.bcm.edu	37	12	57578193	57578193	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	SOLID			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr12:57578193C>G	ENST00000243077.3	+	38	6610	c.6144C>G	c.(6142-6144)aaC>aaG	p.N2048K		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2048					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.N2048K(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGCTGGTCAACGTCAGCATCA	0.597																																																1	Substitution - Missense(1)	ovary(1)	12											139.0	110.0	119.0					12																	57578193		2203	4300	6503	55864460	SO:0001583	missense	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.6144C>G	12.37:g.57578193C>G	ENSP00000243077:p.Asn2048Lys		55864460	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.478418	0.63849	.	.	ENSG00000123384	ENST00000243077	D	0.95518	-3.73	5.3	-9.47	0.00594	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	D	0.91185	0.7223	L	0.28694	0.88	0.80722	D	1	P	0.48640	0.913	P	0.50537	0.643	D	0.91070	0.4892	10	0.39692	T	0.17	.	13.978	0.64285	0.0912:0.6501:0.0:0.2587	.	2048	Q07954	LRP1_HUMAN	K	2048	ENSP00000243077:N2048K	ENSP00000243077:N2048K	N	+	3	2	LRP1	55864460	0.000000	0.05858	0.327000	0.25402	0.601000	0.36947	-1.211000	0.02997	-1.931000	0.01055	-1.036000	0.02392	AAC		0.597	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332	
NAV3	89795	hgsc.bcm.edu	37	12	78513199	78513199	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	SOLID			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr12:78513199T>C	ENST00000397909.2	+	15	3396	c.3223T>C	c.(3223-3225)Tca>Cca	p.S1075P	NAV3_ENST00000228327.6_Missense_Mutation_p.S1075P|NAV3_ENST00000266692.7_Missense_Mutation_p.S1075P|NAV3_ENST00000536525.2_Missense_Mutation_p.S1075P			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1075	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.S1075P(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TGGAGTAGGGTCATCTGCCAT	0.498										HNSCC(70;0.22)																																						1	Substitution - Missense(1)	ovary(1)	12											65.0	67.0	66.0					12																	78513199		1948	4157	6105	77037330	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.3223T>C	12.37:g.78513199T>C	ENSP00000381007:p.Ser1075Pro		77037330	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.824|9.824	1.186455|1.186455	0.21870|0.21870	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692|ENST00000552895	T;T;T;T|.	0.32988|.	1.43;1.43;1.43;1.43|.	5.81|5.81	4.65|4.65	0.58169|0.58169	.|.	0.230357|.	0.21887|.	U|.	0.067648|.	T|T	0.58278|0.58278	0.2111|0.2111	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	B;D;B;B|.	0.71674|.	0.255;0.998;0.374;0.039|.	B;D;B;B|.	0.64877|.	0.302;0.93;0.247;0.093|.	T|T	0.53606|0.53606	-0.8415|-0.8415	10|5	0.62326|.	D|.	0.03|.	-6.1039|-6.1039	12.8736|12.8736	0.57978|0.57978	0.0:0.0:0.1408:0.8592|0.0:0.0:0.1408:0.8592	.|.	1075;1075;1075;1075|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	P|A	1075|146	ENSP00000446132:S1075P;ENSP00000381007:S1075P;ENSP00000228327:S1075P;ENSP00000266692:S1075P|.	ENSP00000228327:S1075P|.	S|V	+|+	1|2	0|0	NAV3|NAV3	77037330|77037330	0.999000|0.999000	0.42202|0.42202	0.102000|0.102000	0.21198|0.21198	0.323000|0.323000	0.28346|0.28346	3.925000|3.925000	0.56484|0.56484	0.998000|0.998000	0.38996|0.38996	0.533000|0.533000	0.62120|0.62120	TCA|GTC		0.498	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383	
AKAP2	11217	hgsc.bcm.edu	37	9	112899745	112899745	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	SOLID			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr9:112899745G>A	ENST00000259318.7	+	2	1435	c.1228G>A	c.(1228-1230)Gcc>Acc	p.A410T	AKAP2_ENST00000510514.5_Missense_Mutation_p.A641T|AKAP2_ENST00000374525.1_Missense_Mutation_p.A499T|AKAP2_ENST00000434623.2_Missense_Mutation_p.A499T|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.A641T|AKAP2_ENST00000555236.1_Missense_Mutation_p.A641T|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.A641T	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	410								p.A499T(1)|p.A641T(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						GGGCAACACAGCCTCTCAGGG	0.622																																																2	Substitution - Missense(2)	ovary(2)	9											60.0	65.0	64.0					9																	112899745		2203	4300	6503	111939566	SO:0001583	missense	445815			AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.1228G>A	9.37:g.112899745G>A	ENSP00000259318:p.Ala410Thr		111939566	B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.470203	0.26423	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.47869	2.17;2.17;2.17;2.17;1.41;0.83;0.84;1.43	5.97	3.17	0.36434	.	0.597033	0.17590	N	0.168803	T	0.25232	0.0613	N	0.08118	0	0.09310	N	0.999999	B;B;B;B;B;B;B;B	0.13145	0.002;0.004;0.007;0.004;0.002;0.006;0.003;0.002	B;B;B;B;B;B;B;B	0.13407	0.003;0.009;0.007;0.009;0.004;0.007;0.007;0.001	T	0.16335	-1.0406	10	0.20519	T	0.43	-11.578	10.0542	0.42235	0.214:0.0:0.786:0.0	.	410;499;493;499;500;641;641;459	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	T	641;641;641;641;499;499;459;410	ENSP00000363654:A641T;ENSP00000305861:A641T;ENSP00000451476:A641T;ENSP00000421522:A641T;ENSP00000404782:A499T;ENSP00000363649:A499T;ENSP00000419268:A459T;ENSP00000259318:A410T	ENSP00000259318:A410T	A	+	1	0	PALM2-AKAP2;AKAP2	111939566	0.000000	0.05858	0.259000	0.24435	0.884000	0.51177	0.359000	0.20233	0.873000	0.35799	0.655000	0.94253	GCC		0.622	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065	
ACBD4	79777	hgsc.bcm.edu	37	17	43213896	43213897	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr17:43213896_43213897delCT	ENST00000376955.4	+	3	415_416	c.118_119delCT	c.(118-120)ctgfs	p.L40fs	ACBD4_ENST00000586346.1_Frame_Shift_Del_p.L40fs|ACBD4_ENST00000321854.8_Frame_Shift_Del_p.L40fs|ACBD4_ENST00000591136.1_3'UTR|ACBD4_ENST00000398322.3_Frame_Shift_Del_p.L40fs|ACBD4_ENST00000591859.1_Frame_Shift_Del_p.L40fs|ACBD4_ENST00000431281.1_Frame_Shift_Del_p.L40fs|ACBD4_ENST00000592162.1_Frame_Shift_Del_p.L40fs	NM_001135707.1	NP_001129179.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	40	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.						fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			kidney(1)|lung(3)|ovary(1)	5						TGAAGAGATGCTGCGATTCTAC	0.619																																																0			17																																								40569423	SO:0001589	frameshift_variant	79777			BC029164	CCDS42348.1, CCDS45710.1, CCDS45711.1	17q21.31	2012-10-02	2010-04-30		ENSG00000181513	ENSG00000181513			23337	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 4"""				Standard	NM_001135704		Approved	FLJ13322	uc002iie.3	Q8NC06	OTTHUMG00000180111	ENST00000376955.4:c.118_119delCT	17.37:g.43213896_43213897delCT	ENSP00000366154:p.Leu40fs		40569422	D3DX64|Q8IUT1|Q9H8Q4	Frame_Shift_Del	DEL	ENST00000376955.4	37	CCDS45711.1																																																																																				0.619	ACBD4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000449816.1	NM_024722	
AGAP3	116988	hgsc.bcm.edu	37	7	150837160	150837160	+	Frame_Shift_Del	DEL	C	C	-			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr7:150837160delC	ENST00000397238.2	+	13	1761	c.1761delC	c.(1759-1761)agcfs	p.S587fs	AGAP3_ENST00000463381.1_Intron	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	551	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)	p.S587fs*104(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GGAAAAAGAGCACCGGGACCC	0.642																																																1	Deletion - Frameshift(1)	ovary(1)	7											22.0	29.0	27.0					7																	150837160		1847	4088	5935	150468093	SO:0001589	frameshift_variant	116988			AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000397238.2:c.1761delC	7.37:g.150837160delC	ENSP00000380413:p.Ser587fs		150468093	B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Frame_Shift_Del	DEL	ENST00000397238.2	37	CCDS43681.1																																																																																				0.642	AGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351908.3	NM_031946	
AOC2	314	hgsc.bcm.edu	37	17	40997343	40997345	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr17:40997343_40997345delCTT	ENST00000253799.3	+	1	727_729	c.700_702delCTT	c.(700-702)cttdel	p.L234del	AOC2_ENST00000452774.2_In_Frame_Del_p.L234del	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	234					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)	p.L234delL(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TGGTCTTTTCCTTCACCCCGTGG	0.611																																																1	Deletion - In frame(1)	ovary(1)	17																																								38250871	SO:0001651	inframe_deletion	314			AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.700_702delCTT	17.37:g.40997343_40997345delCTT	ENSP00000253799:p.Leu234del		38250869	A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	In_Frame_Del	DEL	ENST00000253799.3	37	CCDS11443.1																																																																																				0.611	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158	
ARAP1	116985	hgsc.bcm.edu	37	11	72406812	72406812	+	Frame_Shift_Del	DEL	G	G	-			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr11:72406812delG	ENST00000393609.3	-	24	3573	c.3371delC	c.(3370-3372)gctfs	p.A1124fs	ARAP1_ENST00000429686.1_Frame_Shift_Del_p.A818fs|ARAP1_ENST00000393605.3_Frame_Shift_Del_p.A884fs|ARAP1_ENST00000359373.5_Frame_Shift_Del_p.A1124fs|ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000426523.1_Frame_Shift_Del_p.A879fs|ARAP1_ENST00000455638.2_Frame_Shift_Del_p.A1124fs|ARAP1_ENST00000334211.8_Frame_Shift_Del_p.A879fs	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1124	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.A884fs*34(1)		cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CACACGGCCAGCCTTGTAGTC	0.557																																					Ovarian(102;1198 1520 13195 17913 37529)											1	Deletion - Frameshift(1)	ovary(1)	11											123.0	86.0	99.0					11																	72406812		2200	4293	6493	72084460	SO:0001589	frameshift_variant	116985			AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.3371delC	11.37:g.72406812delG	ENSP00000377233:p.Ala1124fs		72084460	A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Frame_Shift_Del	DEL	ENST00000393609.3	37	CCDS41687.1																																																																																				0.557	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118	
ARHGAP6	395	hgsc.bcm.edu	37	X	11187696	11187696	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chrX:11187696G>A	ENST00000337414.4	-	9	2610	c.1738C>T	c.(1738-1740)Cgg>Tgg	p.R580W	ARHGAP6_ENST00000303025.6_Missense_Mutation_p.R377W|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.R612W|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.R405W|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.R580W|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.R389W|ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.R377W	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	580	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)	p.R580R(1)|p.R580W(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TCCTCAGCCCGGGCTGAACTC	0.468																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	ovary(1)|lung(1)	X											158.0	126.0	136.0					X																	11187696		2203	4300	6503	11097617	SO:0001583	missense	395			AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.1738C>T	X.37:g.11187696G>A	ENSP00000338967:p.Arg580Trp		11097617	B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	37	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582707	0.65992	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718;ENST00000413512;ENST00000380732	T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.57	0.163	0.14986	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.47093	D	0.000251	T	0.62171	0.2406	M	0.74467	2.265	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.928;0.977;0.976;0.984;0.999	T	0.66143	-0.5997	10	0.62326	D	0.03	.	15.5015	0.75703	0.0:0.0:0.4095:0.5905	.	389;377;580;580;580	B7Z8H7;O43182-5;O43182-2;O43182;A8KAL3	.;.;.;RHG06_HUMAN;.	W	405;377;377;580;416;580;389;612	ENSP00000438135:R405W;ENSP00000370112:R377W;ENSP00000302312:R377W;ENSP00000338967:R580W;ENSP00000370093:R416W;ENSP00000370094:R580W;ENSP00000389394:R389W;ENSP00000370108:R612W	ENSP00000302312:R377W	R	-	1	2	ARHGAP6	11097617	1.000000	0.71417	0.449000	0.26957	0.927000	0.56198	1.369000	0.34227	-0.098000	0.12285	-1.469000	0.01011	CGG		0.468	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427	
ASB11	140456	hgsc.bcm.edu	37	X	15306059	15306059	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chrX:15306059G>T	ENST00000480796.1	-	6	841	c.791C>A	c.(790-792)gCg>gAg	p.A264E	ASB11_ENST00000344384.4_Missense_Mutation_p.A243E|ASB11_ENST00000537676.1_Missense_Mutation_p.A243E|ASB11_ENST00000380470.3_Missense_Mutation_p.A247E			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11, E3 ubiquitin protein ligase	264					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.A264E(2)|p.A243E(1)		breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					CAGATCAAGCGCACTTTTGCC	0.542																																																3	Substitution - Missense(3)	lung(2)|ovary(1)	X											124.0	97.0	106.0					X																	15306059		2203	4300	6503	15215980	SO:0001583	missense	140456			AF425642	CCDS14164.1, CCDS35209.1, CCDS56596.1	Xp22.31	2014-02-10	2014-02-10		ENSG00000165192	ENSG00000165192		"""Ankyrin repeat domain containing"""	17186	protein-coding gene	gene with protein product		300626	"""ankyrin repeat and SOCS box-containing 11"", ""ankyrin repeat and SOCS box containing 11"""			24337577	Standard	NM_080873		Approved	DKFZp779E2460	uc004cwp.2	Q8WXH4	OTTHUMG00000021173	ENST00000480796.1:c.791C>A	X.37:g.15306059G>T	ENSP00000417914:p.Ala264Glu		15215980	E9PEN1|Q3SYC4|Q7Z667	Missense_Mutation	SNP	ENST00000480796.1	37	CCDS14164.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179073	0.78564	.	.	ENSG00000165192	ENST00000537676;ENST00000380470;ENST00000344384;ENST00000480796	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	5.44	5.44	0.79542	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000003	D	0.82683	0.5090	H	0.94503	3.545	0.23620	N	0.997276	D;D;D	0.89917	0.981;0.999;1.0	P;D;D	0.72982	0.9;0.966;0.979	T	0.79325	-0.1850	10	0.87932	D	0	-4.8556	17.2286	0.86978	0.0:0.0:1.0:0.0	.	247;264;243	Q7Z667;Q8WXH4;E9PEN1	.;ASB11_HUMAN;.	E	243;247;243;264	ENSP00000445465:A243E;ENSP00000369837:A247E;ENSP00000343408:A243E;ENSP00000417914:A264E	ENSP00000343408:A243E	A	-	2	0	ASB11	15215980	1.000000	0.71417	0.020000	0.16555	0.980000	0.70556	8.393000	0.90182	2.279000	0.76181	0.523000	0.50628	GCG		0.542	ASB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055852.2		
BAI2	576	hgsc.bcm.edu	37	1	32202314	32202314	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr1:32202314G>T	ENST00000373658.3	-	21	3331	c.2990C>A	c.(2989-2991)aCc>aAc	p.T997N	BAI2_ENST00000398542.1_Missense_Mutation_p.T930N|BAI2_ENST00000440175.2_Missense_Mutation_p.T639N|BAI2_ENST00000373655.2_Missense_Mutation_p.T997N|BAI2_ENST00000465256.1_5'Flank|BAI2_ENST00000398556.3_Missense_Mutation_p.T945N|BAI2_ENST00000398547.1_Missense_Mutation_p.T930N|BAI2_ENST00000257070.4_Missense_Mutation_p.T997N|BAI2_ENST00000398538.1_Missense_Mutation_p.T985N|BAI2_ENST00000527361.1_Missense_Mutation_p.T997N	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	997					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T997N(1)		breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		AGCCGTCATGGTGCACACGCC	0.672																																																1	Substitution - Missense(1)	ovary(1)	1											74.0	55.0	62.0					1																	32202314		2203	4299	6502	31974901	SO:0001583	missense	576			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.2990C>A	1.37:g.32202314G>T	ENSP00000362762:p.Thr997Asn		31974901	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	CCDS346.2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099017	0.76870	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538	T;T;T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89	4.66	4.66	0.58398	GPCR, family 2-like (1);	0.000000	0.42172	D	0.000755	T	0.70491	0.3230	M	0.88775	2.98	0.54753	D	0.999989	D;D;D;D;D	0.76494	0.997;0.999;0.996;0.997;0.999	D;D;D;D;D	0.77557	0.947;0.983;0.972;0.974;0.99	T	0.78244	-0.2279	10	0.87932	D	0	.	17.5532	0.87882	0.0:0.0:1.0:0.0	.	997;985;639;997;997	O60241-4;O60241-3;B4DKC3;O60241-2;O60241	.;.;.;.;BAI2_HUMAN	N	945;930;997;997;930;997;997;639;985	ENSP00000381564:T945N;ENSP00000381555:T930N;ENSP00000362762:T997N;ENSP00000362759:T997N;ENSP00000381550:T930N;ENSP00000257070:T997N;ENSP00000435397:T997N;ENSP00000391071:T639N;ENSP00000381548:T985N	ENSP00000257070:T997N	T	-	2	0	BAI2	31974901	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.864000	0.99589	2.312000	0.78011	0.462000	0.41574	ACC		0.672	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703	
C1QL4	338761	hgsc.bcm.edu	37	12	49726968	49726969	+	Frame_Shift_Ins	INS	-	-	TT	rs144828464	byFrequency	TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr12:49726968_49726969insTT	ENST00000334221.3	-	2	1295_1296	c.585_586insAA	c.(583-588)tacgccfs	p.A196fs		NM_001008223.1	NP_001008224.1	Q86Z23	C1QL4_HUMAN	complement component 1, q subcomponent-like 4	196	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)		p.A196fs*>44(1)		large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						CTGTTGCTGGCGTAGTCGTAGT	0.604																																																1	Insertion - Frameshift(1)	ovary(1)	12																																								48013236	SO:0001589	frameshift_variant	338761				CCDS31793.1	12q13.12	2012-04-12				ENSG00000186897			31416	protein-coding gene	gene with protein product		615229					Standard	NM_001008223		Approved	C1QTNF11, CTRP11	uc001rtz.1	Q86Z23	OTTHUMG00000169515	ENST00000334221.3:c.585_586insAA	12.37:g.49726968_49726969insTT	ENSP00000335285:p.Ala196fs		48013235		Frame_Shift_Ins	INS	ENST00000334221.3	37	CCDS31793.1																																																																																				0.604	C1QL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404561.1	NM_001008223	
BPIFB4	149954	hgsc.bcm.edu	37	20	31671213	31671214	+	Frame_Shift_Ins	INS	-	-	C	rs139974951|rs541992483	byFrequency	TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr20:31671213_31671214insC	ENST00000375483.3	+	3	210_211	c.210_211insC	c.(211-213)cccfs	p.P71fs		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	71						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.V35fs*9(1)									ATGTCCGAGGACCCCCCCCAGT	0.495													CCCCCCCC|CCCCCCCC|CCCCCCCCC|insertion	3	0.000599042	0.0015	0.0014	5008	,	,		12507	0.0		0.0	False		,,,				2504	0.0															1	Insertion - Frameshift(1)	ovary(1)	20																																								31134875	SO:0001589	frameshift_variant	149954			AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.218dupC	20.37:g.31671221_31671221dupC	ENSP00000364632:p.Pro71fs		31134874	Q5TDX6	Frame_Shift_Ins	INS	ENST00000375483.3	37	CCDS13213.2																																																																																				0.495	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519	
C2CD2	25966	hgsc.bcm.edu	37	21	43327232	43327232	+	Frame_Shift_Del	DEL	G	G	-			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr21:43327232delG	ENST00000380486.3	-	10	1428	c.1187delC	c.(1186-1188)cctfs	p.P398fs	C2CD2_ENST00000329623.7_Frame_Shift_Del_p.P243fs	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	398						cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.P396fs*9(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						AACAGGGGGAGGGATGGGCCA	0.522																																																1	Deletion - Frameshift(1)	ovary(1)	21											68.0	65.0	66.0					21																	43327232		2203	4300	6503	42200301	SO:0001589	frameshift_variant	25966			AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"""TMEM24-like"""		"""chromosome 21 open reading frame 25"""	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.1187delC	21.37:g.43327232delG	ENSP00000369853:p.Pro398fs		42200301	Q5R2V7|Q6AHX8|Q9NSE6	Frame_Shift_Del	DEL	ENST00000380486.3	37	CCDS42933.1																																																																																				0.522	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195228.2	NM_015500	
C9orf171	389799	hgsc.bcm.edu	37	9	135413034	135413034	+	Frame_Shift_Del	DEL	C	C	-			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr9:135413034delC	ENST00000343036.2	+	5	727	c.679delC	c.(679-681)ctgfs	p.L227fs	C9orf171_ENST00000393216.2_Frame_Shift_Del_p.L191fs	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	227										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						GTACCTGCAGCTGTGGGTACA	0.562																																																0			9											105.0	106.0	106.0					9																	135413034		2203	4300	6503	134402855	SO:0001589	frameshift_variant	389799			AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523			33776	protein-coding gene	gene with protein product							Standard	NM_207417		Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000343036.2:c.679delC	9.37:g.135413034delC	ENSP00000343290:p.Leu227fs		134402855	Q147X1	Frame_Shift_Del	DEL	ENST00000343036.2	37	CCDS6949.1																																																																																				0.562	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254589.1	NM_207417	
CACNA2D2	9254	hgsc.bcm.edu	37	3	50416992	50416992	+	Frame_Shift_Del	DEL	G	G	-			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr3:50416992delG	ENST00000479441.1	-	11	1022	c.1023delC	c.(1021-1023)tgcfs	p.C341fs	CACNA2D2_ENST00000424201.2_Frame_Shift_Del_p.C341fs|CACNA2D2_ENST00000435965.1_Frame_Shift_Del_p.C341fs|CACNA2D2_ENST00000395083.1_Frame_Shift_Del_p.C341fs|CACNA2D2_ENST00000360963.3_Frame_Shift_Del_p.C272fs|CACNA2D2_ENST00000266039.3_Frame_Shift_Del_p.C341fs|CACNA2D2_ENST00000429770.1_Frame_Shift_Del_p.C341fs|CACNA2D2_ENST00000423994.2_Frame_Shift_Del_p.C341fs			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	341	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.F342fs*54(1)		breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GGTGTGTGAAGCATGACACAG	0.597																																																1	Deletion - Frameshift(1)	ovary(1)	3											97.0	81.0	86.0					3																	50416992		2203	4300	6503	50391996	SO:0001589	frameshift_variant	9254			AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"""Calcium channel subunits"""	1400	protein-coding gene	gene with protein product	"""gene 26"""	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.1023delC	3.37:g.50416992delG	ENSP00000418081:p.Cys341fs		50391996	A7MD15|Q9NY48|Q9UEW0|Q9Y268	Frame_Shift_Del	DEL	ENST00000479441.1	37	CCDS54588.1																																																																																				0.597	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1	NM_006030	
CPAMD8	27151	hgsc.bcm.edu	37	19	17039883	17039884	+	Frame_Shift_Ins	INS	-	-	C			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr19:17039883_17039884insC	ENST00000443236.1	-	24	3184_3185	c.3153_3154insG	c.(3151-3156)gggcatfs	p.H1052fs		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1005						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.H1052fs*30(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GTGTTCTGATGCCCCCCCAGGA	0.584																																																1	Insertion - Frameshift(1)	ovary(1)	19																																								16900884	SO:0001589	frameshift_variant	27151			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.3154dupG	19.37:g.17039890_17039890dupC	ENSP00000402505:p.His1052fs		16900883	Q8NC09|Q9ULD7	Frame_Shift_Ins	INS	ENST00000443236.1	37	CCDS42519.1																																																																																				0.584	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692	
CEACAM6	4680	hgsc.bcm.edu	37	19	42260659	42260659	+	Silent	SNP	A	A	G			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr19:42260659A>G	ENST00000199764.6	+	2	434	c.216A>G	c.(214-216)agA>agG	p.R72R	CEA_ENST00000598976.1_Intron|AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	72	Ig-like V-type.				cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.R72R(1)		breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		AAGGCGAAAGAGTGGATGGCA	0.498																																																1	Substitution - coding silent(1)	ovary(1)	19											205.0	187.0	193.0					19																	42260659		2203	4300	6503	46952499	SO:0001819	synonymous_variant	4680			M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1818	protein-coding gene	gene with protein product		163980		NCA			Standard	NM_002483		Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.216A>G	19.37:g.42260659A>G			46952499	Q13774|Q14920|Q53XP7	Silent	SNP	ENST00000199764.6	37	CCDS12585.1																																																																																				0.498	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321147.1		
DNAI2	64446	hgsc.bcm.edu	37	17	72278098	72278098	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr17:72278098G>C	ENST00000311014.6	+	2	209	c.142G>C	c.(142-144)Gac>Cac	p.D48H	DNAI2_ENST00000582036.1_Missense_Mutation_p.D48H|DNAI2_ENST00000307504.5_5'UTR|DNAI2_ENST00000446837.2_Missense_Mutation_p.D48H|DNAI2_ENST00000579490.1_Missense_Mutation_p.D105H			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	48					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)	p.D48H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GAACCCAGTGGACACGGGCAT	0.652									Kartagener syndrome																																							1	Substitution - Missense(1)	ovary(1)	17											126.0	109.0	115.0					17																	72278098		2203	4300	6503	69789693	SO:0001583	missense	64446	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.142G>C	17.37:g.72278098G>C	ENSP00000308312:p.Asp48His		69789693	C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	ENST00000311014.6	37	CCDS11697.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.978769	0.34942	.	.	ENSG00000171595	ENST00000311014;ENST00000446837	T;T	0.13657	2.57;2.57	5.22	5.22	0.72569	.	0.100357	0.64402	D	0.000003	T	0.15825	0.0381	L	0.42581	1.335	0.80722	D	1	B	0.22211	0.066	B	0.24155	0.051	T	0.04090	-1.0978	10	0.30854	T	0.27	-69.5797	19.0368	0.92982	0.0:0.0:1.0:0.0	.	48	Q9GZS0	DNAI2_HUMAN	H	48	ENSP00000308312:D48H;ENSP00000400252:D48H	ENSP00000308312:D48H	D	+	1	0	DNAI2	69789693	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	5.517000	0.67061	2.731000	0.93534	0.644000	0.83932	GAC		0.652	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036	
DNAJC11	55735	hgsc.bcm.edu	37	1	6698382	6698386	+	Frame_Shift_Del	DEL	CAGCA	CAGCA	-	rs41278032		TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	CAGCA	CAGCA	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr1:6698382_6698386delCAGCA	ENST00000377577.5	-	12	1415_1419	c.1292_1296delTGCTG	c.(1291-1296)gtgctgfs	p.VL431fs	DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.VL379fs|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.VL393fs|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.VL341fs	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	431						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)		p.V431fs*22(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		GCTTCTTCTGCAGCACATCGGTGGC	0.62																																																1	Deletion - Frameshift(1)	ovary(1)	1																																								6620973	SO:0001589	frameshift_variant	55735			AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.1292_1296delTGCTG	1.37:g.6698382_6698386delCAGCA	ENSP00000366800:p.Val431fs		6620969	Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Frame_Shift_Del	DEL	ENST00000377577.5	37	CCDS87.1																																																																																				0.620	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198	
EGFR	1956	hgsc.bcm.edu	37	7	55224456	55224456	+	Frame_Shift_Del	DEL	T	T	-			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr7:55224456delT	ENST00000275493.2	+	10	1315	c.1138delT	c.(1138-1140)tccfs	p.S380fs	EGFR_ENST00000442591.1_Frame_Shift_Del_p.S380fs|EGFR_ENST00000420316.2_Frame_Shift_Del_p.S380fs|EGFR_ENST00000455089.1_Frame_Shift_Del_p.S335fs|EGFR_ENST00000344576.2_Frame_Shift_Del_p.S380fs|EGFR_ENST00000342916.3_Frame_Shift_Del_p.S380fs|EGFR_ENST00000454757.2_Frame_Shift_Del_p.S327fs	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	380					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.S380fs*16(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TTTCAGTGACTCCTTCACACA	0.373		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	2	Deletion - Frameshift(2)	ovary(2)	7											115.0	109.0	111.0					7																	55224456		2203	4300	6503	55191950	SO:0001589	frameshift_variant	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1138delT	7.37:g.55224456delT	ENSP00000275493:p.Ser380fs		55191950	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Frame_Shift_Del	DEL	ENST00000275493.2	37	CCDS5514.1																																																																																				0.373	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
EPHA7	2045	hgsc.bcm.edu	37	6	93967899	93967899	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr6:93967899C>A	ENST00000369303.4	-	11	2212	c.2028G>T	c.(2026-2028)agG>agT	p.R676S		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	676	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.R676S(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AAAAGTCTCTCCTTTGTTTTT	0.428																																																1	Substitution - Missense(1)	ovary(1)	6											140.0	140.0	140.0					6																	93967899		2203	4300	6503	94024620	SO:0001583	missense	2045			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2028G>T	6.37:g.93967899C>A	ENSP00000358309:p.Arg676Ser		94024620	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890825	0.72524	.	.	ENSG00000135333	ENST00000369303	D	0.82433	-1.61	6.08	2.93	0.34026	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80358	0.4608	L	0.37750	1.13	0.80722	D	1	D;D;D	0.62365	0.988;0.989;0.991	D;P;P	0.67382	0.951;0.827;0.892	T	0.82378	-0.0487	10	0.87932	D	0	.	10.5997	0.45360	0.0:0.7153:0.0:0.2847	.	672;671;676	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	S	676	ENSP00000358309:R676S	ENSP00000358309:R676S	R	-	3	2	EPHA7	94024620	0.992000	0.36948	1.000000	0.80357	0.991000	0.79684	0.402000	0.20965	0.899000	0.36444	0.591000	0.81541	AGG		0.428	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1		
ERCC2	2068	hgsc.bcm.edu	37	19	45858958	45858958	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr19:45858958G>C	ENST00000391945.4	-	16	1585	c.1508C>G	c.(1507-1509)gCc>gGc	p.A503G	ERCC2_ENST00000391944.3_Missense_Mutation_p.A425G	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	503	Mediates interaction with MMS19.				7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.A503G(1)		large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GGAGCTGATGGCCACCTGGTC	0.577			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""		E	1	Substitution - Missense(1)	ovary(1)	19											110.0	91.0	98.0					19																	45858958		2203	4300	6503	50550798	SO:0001583	missense	2068	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.1508C>G	19.37:g.45858958G>C	ENSP00000375809:p.Ala503Gly		50550798	Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	CCDS33049.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141496	0.77775	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944	T;D	0.82984	-1.44;-1.67	5.68	5.68	0.88126	.	0.108147	0.64402	D	0.000007	D	0.84101	0.5398	M	0.88906	2.99	0.80722	D	1	B;B;P	0.41313	0.389;0.016;0.745	B;B;B	0.33454	0.147;0.104;0.164	D	0.86693	0.1924	10	0.54805	T	0.06	-26.8678	15.2892	0.73854	0.0:0.0:1.0:0.0	.	425;503;196	E7EVE9;P18074;Q6ZNQ5	.;ERCC2_HUMAN;.	G	453;479;503;425	ENSP00000375809:A503G;ENSP00000375808:A425G	ENSP00000375805:A453G	A	-	2	0	ERCC2	50550798	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.446000	0.90329	2.692000	0.91855	0.561000	0.74099	GCC		0.577	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400	
EVC2	132884	hgsc.bcm.edu	37	4	5624409	5624409	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr4:5624409C>A	ENST00000344408.5	-	14	2409	c.2356G>T	c.(2356-2358)Gca>Tca	p.A786S	EVC2_ENST00000344938.1_Missense_Mutation_p.A786S|EVC2_ENST00000310917.2_Missense_Mutation_p.A706S	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	786					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A786S(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TCGGCCCGTGCAGCCATCTCC	0.657																																																1	Substitution - Missense(1)	ovary(1)	4											60.0	47.0	51.0					4																	5624409		2203	4300	6503	5675310	SO:0001583	missense	132884			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.2356G>T	4.37:g.5624409C>A	ENSP00000342144:p.Ala786Ser		5675310	Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	C	11.39	1.623393	0.28889	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.74947	-0.88;-0.88;-0.89	5.44	1.13	0.20643	.	0.684757	0.14477	N	0.317174	T	0.58250	0.2109	L	0.56769	1.78	0.09310	N	1	P	0.40197	0.706	B	0.33454	0.164	T	0.45877	-0.9231	10	0.21540	T	0.41	-6.6339	1.8796	0.03225	0.1343:0.3903:0.2571:0.2183	.	786	Q86UK5	LBN_HUMAN	S	786;706;786	ENSP00000339954:A786S;ENSP00000311683:A706S;ENSP00000342144:A786S	ENSP00000311683:A706S	A	-	1	0	EVC2	5675310	0.000000	0.05858	0.001000	0.08648	0.531000	0.34715	-0.084000	0.11268	0.635000	0.30488	0.462000	0.41574	GCA		0.657	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127	
EVC2	132884	hgsc.bcm.edu	37	4	5624411	5624411	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr4:5624411G>A	ENST00000344408.5	-	14	2407	c.2354C>T	c.(2353-2355)gCt>gTt	p.A785V	EVC2_ENST00000344938.1_Missense_Mutation_p.A785V|EVC2_ENST00000310917.2_Missense_Mutation_p.A705V	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	785					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A785V(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GGCCCGTGCAGCCATCTCCTT	0.662																																																1	Substitution - Missense(1)	ovary(1)	4											60.0	48.0	52.0					4																	5624411		2203	4300	6503	5675312	SO:0001583	missense	132884			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.2354C>T	4.37:g.5624411G>A	ENSP00000342144:p.Ala785Val		5675312	Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872261	0.33069	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.75938	-0.98;-0.98;-0.98	5.44	3.65	0.41850	.	0.360878	0.27896	N	0.017420	T	0.60741	0.2292	L	0.59436	1.845	0.23243	N	0.998052	P	0.42692	0.787	B	0.33121	0.158	T	0.51663	-0.8677	10	0.18276	T	0.48	-15.1878	7.1995	0.25873	0.14:0.0:0.7135:0.1465	.	785	Q86UK5	LBN_HUMAN	V	785;705;785	ENSP00000339954:A785V;ENSP00000311683:A705V;ENSP00000342144:A785V	ENSP00000311683:A705V	A	-	2	0	EVC2	5675312	0.955000	0.32602	0.240000	0.24138	0.596000	0.36781	2.949000	0.49074	1.249000	0.43950	0.462000	0.41574	GCT		0.662	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127	
FBF1	85302	hgsc.bcm.edu	37	17	73922959	73922959	+	Splice_Site	SNP	C	C	G			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr17:73922959C>G	ENST00000586717.1	-	9	707		c.e9-1		FBF1_ENST00000389570.4_Splice_Site|FBF1_ENST00000319129.5_Splice_Site			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1						apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)		p.?(1)		large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						TCTTCCAAGTCTCACAGCAGA	0.522																																																1	Unknown(1)	ovary(1)	17											39.0	39.0	39.0					17																	73922959		1996	4159	6155	71434554	SO:0001630	splice_region_variant	85302			AK074045	CCDS45779.1	17q25.3	2011-04-21			ENSG00000188878	ENSG00000188878			24674	protein-coding gene	gene with protein product	"""albatross"""					11347906	Standard	NM_001080542		Approved	FLJ00103, FBF-1, KIAA1863, ALB	uc002jqc.3	Q8TES7		ENST00000586717.1:c.434-1G>C	17.37:g.73922959C>G			71434554	B5MEM5|Q96IF6|Q96JG4|Q96MA8	Splice_Site	SNP	ENST00000586717.1	37		.	.	.	.	.	.	.	.	.	.	C	11.42	1.632327	0.29068	.	.	ENSG00000188878	ENST00000337792;ENST00000389570;ENST00000319129;ENST00000427433	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5089	0.67772	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FBF1	71434554	0.901000	0.30685	0.943000	0.38184	0.121000	0.20230	2.063000	0.41423	2.485000	0.83878	0.655000	0.94253	.		0.522	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000448945.2	NM_001080542	Intron
FBXO6	26270	hgsc.bcm.edu	37	1	11733372	11733372	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr1:11733372T>A	ENST00000376753.4	+	5	683	c.548T>A	c.(547-549)cTc>cAc	p.L183H		NM_018438.5	NP_060908.1	Q9NRD1	FBX6_HUMAN	F-box protein 6	183	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|proteolysis (GO:0006508)|response to unfolded protein (GO:0006986)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)|ubiquitin-protein transferase activity (GO:0004842)	p.L183H(1)		breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTACCAACTCAAAGTGCAG	0.627																																					NSCLC(54;506 1562 46490 51389)											1	Substitution - Missense(1)	ovary(1)	1											67.0	59.0	62.0					1																	11733372		2203	4300	6503	11655959	SO:0001583	missense	26270			AF129536	CCDS133.1	1p36.22	2008-05-14	2004-06-15		ENSG00000116663	ENSG00000116663		"""F-boxes /  ""other"""""	13585	protein-coding gene	gene with protein product		605647	"""F-box only protein 6"""			10531035, 10945468	Standard	NM_018438		Approved	FBX6, FBG2, FBS2, Fbx6b	uc001aso.3	Q9NRD1	OTTHUMG00000002229	ENST00000376753.4:c.548T>A	1.37:g.11733372T>A	ENSP00000365944:p.Leu183His		11655959	B1AK42|B2RC88|Q9UKT3	Missense_Mutation	SNP	ENST00000376753.4	37	CCDS133.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.29|14.29	2.492055|2.492055	0.44352|0.44352	.|.	.|.	ENSG00000116663|ENSG00000116663	ENST00000376753|ENST00000449067	T|.	0.46819|.	0.86|.	5.69|5.69	5.69|5.69	0.88448|0.88448	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);|.	0.330314|.	0.34507|.	N|.	0.003909|.	T|T	0.67183|0.67183	0.2866|0.2866	M|M	0.86805|0.86805	2.84|2.84	0.09310|0.09310	N|N	0.999994|0.999994	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.64347|0.64347	-0.6429|-0.6429	10|5	0.87932|.	D|.	0|.	.|.	13.3004|13.3004	0.60321|0.60321	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	183|.	Q9NRD1|.	FBX6_HUMAN|.	H|T	183|139	ENSP00000365944:L183H|.	ENSP00000365944:L183H|.	L|S	+|+	2|1	0|0	FBXO6|FBXO6	11655959|11655959	0.291000|0.291000	0.24352|0.24352	0.012000|0.012000	0.15200|0.15200	0.149000|0.149000	0.21700|0.21700	5.059000|5.059000	0.64306|0.64306	2.165000|2.165000	0.68154|0.68154	0.379000|0.379000	0.24179|0.24179	CTC|TCA		0.627	FBXO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006332.1	NM_018438	
ARHGEF38	54848	hgsc.bcm.edu	37	4	106510409	106510409	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr4:106510409G>C	ENST00000420470.2	+	2	345	c.201G>C	c.(199-201)aaG>aaC	p.K67N	ARHGEF38_ENST00000265154.2_Missense_Mutation_p.K67N	NM_001242729.1	NP_001229658.1	Q9NXL2	ARH38_HUMAN	Rho guanine nucleotide exchange factor (GEF) 38	67			K -> N (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.			cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.K67N(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(3)	11						TAACAGAAAAGATGACTCCAC	0.418																																																2	Substitution - Missense(2)	ovary(1)|breast(1)	4											75.0	74.0	74.0					4																	106510409		2203	4300	6503	106729858	SO:0001583	missense	54848			AK000191	CCDS3670.1, CCDS56338.1	4q24	2012-07-24			ENSG00000236699	ENSG00000236699		"""Rho guanine nucleotide exchange factors"""	25968	protein-coding gene	gene with protein product							Standard	NM_001242729		Approved	FLJ20184	uc003hxv.2	Q9NXL2	OTTHUMG00000154752	ENST00000420470.2:c.201G>C	4.37:g.106510409G>C	ENSP00000416125:p.Lys67Asn		106729858	C9JIB4	Missense_Mutation	SNP	ENST00000420470.2	37	CCDS56338.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.143436	0.57044	.	.	ENSG00000236699	ENST00000265154;ENST00000420470	T;T	0.58210	1.75;0.35	5.4	4.55	0.56014	.	0.053466	0.64402	D	0.000001	T	0.65533	0.2700	M	0.71581	2.175	0.42057	D	0.991144	D	0.89917	1.0	D	0.85130	0.997	T	0.63804	-0.6554	10	0.21014	T	0.42	-6.4157	7.8012	0.29176	0.248:0.0:0.752:0.0	.	67	Q9NXL2	ARH38_HUMAN	N	67	ENSP00000265154:K67N;ENSP00000416125:K67N	ENSP00000265154:K67N	K	+	3	2	ARHGEF38	106729858	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	2.981000	0.49329	1.228000	0.43614	0.655000	0.94253	AAG		0.418	ARHGEF38-001	PUTATIVE	basic|appris_principal|readthrough_transcript|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000336934.3	NM_017700	
FRMD4A	55691	hgsc.bcm.edu	37	10	13701407	13701408	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	CC	CC	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr10:13701407_13701408delCC	ENST00000357447.2	-	21	2349_2350	c.1981_1982delGG	c.(1981-1983)ggcfs	p.G661fs	FRMD4A_ENST00000358621.4_Frame_Shift_Del_p.G646fs|FRMD4A_ENST00000378503.1_Frame_Shift_Del_p.G661fs	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	661	Ser-rich.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)		p.G661fs*45(1)		breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GTGCGGGAGGCCGCGGATGGGG	0.653																																																1	Deletion - Frameshift(1)	ovary(1)	10																																								13741414	SO:0001589	frameshift_variant	55691			AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.1981_1982delGG	10.37:g.13701407_13701408delCC	ENSP00000350032:p.Gly661fs		13741413	A7E2Y3|Q5T377	Frame_Shift_Del	DEL	ENST00000357447.2	37	CCDS7101.1																																																																																				0.653	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027	
GSG2	83903	hgsc.bcm.edu	37	17	3628064	3628065	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr17:3628064_3628065insTG	ENST00000325418.4	+	1	854_855	c.835_836insTG	c.(835-837)aatfs	p.N279fs	CTD-3195I5.3_ENST00000571741.1_RNA|ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	279					histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										GGTGGTGGGAAATGGACCAGAG	0.545																																																0			17																																								3574814	SO:0001589	frameshift_variant	83903			AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	Exception_encountered	17.37:g.3628064_3628065insTG	ENSP00000325290:p.Asn279fs		3574813	Q5U5K3|Q96MN1|Q9BXS7	Frame_Shift_Ins	INS	ENST00000325418.4	37	CCDS11036.1																																																																																				0.545	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	NM_031965	
JAKMIP3	282973	hgsc.bcm.edu	37	10	133949538	133949539	+	Frame_Shift_Ins	INS	-	-	T			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr10:133949538_133949539insT	ENST00000298622.4	+	5	1212_1213	c.1074_1075insT	c.(1075-1077)gaafs	p.E359fs		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	359						Golgi apparatus (GO:0005794)		p.E359fs*1(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TACGCCGAATGGAAAACAAGTT	0.535																																																1	Insertion - Frameshift(1)	ovary(1)	10																																								133799529	SO:0001589	frameshift_variant	282973			AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	Exception_encountered	10.37:g.133949538_133949539insT	ENSP00000298622:p.Glu359fs		133799528	A6PW00|Q69YM6|Q6ZT29	Frame_Shift_Ins	INS	ENST00000298622.4	37	CCDS44494.1																																																																																				0.535	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303	
KIAA0226	9711	hgsc.bcm.edu	37	3	197408771	197408771	+	Splice_Site	SNP	C	C	T			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr3:197408771C>T	ENST00000296343.5	-	15	2126		c.e15-1		KIAA0226_ENST00000389665.5_Splice_Site|KIAA0226_ENST00000273582.5_Splice_Site	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226						autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)		p.?(2)		NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		AATTTTCCTCCTGAGGAAGGG	0.557																																					Esophageal Squamous(3;167 355 3763 15924)											2	Unknown(2)	ovary(2)	3											87.0	95.0	93.0					3																	197408771		2143	4256	6399	198893168	SO:0001630	splice_region_variant	9711			D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.2127-1G>A	3.37:g.197408771C>T			198893168	Q96CK5	Splice_Site	SNP	ENST00000296343.5	37	CCDS43195.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094231	0.76870	.	.	ENSG00000145016	ENST00000273582;ENST00000413360;ENST00000296343;ENST00000415452;ENST00000389665	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.798	0.88579	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA0226	198893168	1.000000	0.71417	0.997000	0.53966	0.670000	0.39368	7.472000	0.80996	2.709000	0.92574	0.655000	0.94253	.		0.557	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901	Intron
LILRB3	11025	hgsc.bcm.edu	37	19	54723012	54723015	+	Frame_Shift_Del	DEL	TTGC	TTGC	-			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	TTGC	TTGC	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr19:54723012_54723015delTTGC	ENST00000391750.1	-	9	1545_1548	c.1409_1412delGCAA	c.(1408-1413)agcaaafs	p.SK470fs	LILRB3_ENST00000346401.6_Frame_Shift_Del_p.SK482fs|LILRB3_ENST00000469273.1_5'UTR|LILRB3_ENST00000245620.9_Frame_Shift_Del_p.SK470fs|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000424807.1_Frame_Shift_Del_p.SK470fs|LILRA6_ENST00000419410.2_Frame_Shift_Del_p.SK470fs|LILRA6_ENST00000440558.2_Frame_Shift_Del_p.SK470fs|LILRA6_ENST00000270464.5_Frame_Shift_Del_p.SK470fs|LILRB3_ENST00000407860.2_Frame_Shift_Del_p.SK487fs			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	470					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.S470fs*29(1)		endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTCCTGTGTTTGCTGTGACGCTG	0.613																																																1	Deletion - Frameshift(1)	ovary(1)	19																																								59414827	SO:0001589	frameshift_variant	11025			U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1409_1412delGCAA	19.37:g.54723012_54723015delTTGC	ENSP00000375630:p.Ser470fs		59414824	C9J1P3|C9JIP1|O15471|Q86U49	Frame_Shift_Del	DEL	ENST00000391750.1	37	CCDS33105.1																																																																																				0.613	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864	
MAST1	22983	hgsc.bcm.edu	37	19	12962779	12962779	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr19:12962779C>A	ENST00000251472.4	+	8	845	c.806C>A	c.(805-807)gCc>gAc	p.A269D	MAST1_ENST00000591495.1_Missense_Mutation_p.A265D	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1									p.A269D(1)		NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TTGGAGGTGGCCTTCGTTACT	0.622																																																1	Substitution - Missense(1)	ovary(1)	19											103.0	86.0	92.0					19																	12962779		2203	4300	6503	12823779	SO:0001583	missense	22983			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.806C>A	19.37:g.12962779C>A	ENSP00000251472:p.Ala269Asp		12823779		Missense_Mutation	SNP	ENST00000251472.4	37	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.267344	0.80469	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.30714	1.52	5.06	5.06	0.68205	Microtubule-associated serine/threonine-protein kinase, domain (1);Microtubule-associated serine/threonine-protein kinase, pre-PK domain (2);	0.135532	0.49305	D	0.000156	T	0.42268	0.1195	M	0.71581	2.175	0.38673	D	0.952354	P;B	0.35575	0.51;0.061	B;B	0.41946	0.371;0.139	T	0.50013	-0.8877	10	0.62326	D	0.03	-14.404	16.2983	0.82786	0.0:1.0:0.0:0.0	.	269;269	Q9Y2H9;F5H2S9	MAST1_HUMAN;.	D	269	ENSP00000251472:A269D	ENSP00000251472:A269D	A	+	2	0	MAST1	12823779	0.000000	0.05858	1.000000	0.80357	0.917000	0.54804	0.690000	0.25451	2.529000	0.85273	0.305000	0.20034	GCC		0.622	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975	
NTMT1	28989	hgsc.bcm.edu	37	9	132395065	132395065	+	Frame_Shift_Del	DEL	A	A	-			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr9:132395065delA	ENST00000372486.1	+	2	432	c.83delA	c.(82-84)gacfs	p.D28fs	NTMT1_ENST00000372483.4_Frame_Shift_Del_p.D28fs|NTMT1_ENST00000482347.1_Intron|NTMT1_ENST00000372480.1_Frame_Shift_Del_p.D28fs|NTMT1_ENST00000486391.2_3'UTR|NTMT1_ENST00000459968.2_Frame_Shift_Del_p.D28fs|NTMT1_ENST00000372481.3_Frame_Shift_Del_p.D28fs			Q9BV86	NTM1A_HUMAN	N-terminal Xaa-Pro-Lys N-methyltransferase 1	28					chromosome segregation (GO:0007059)|N-terminal peptidyl-proline dimethylation (GO:0018016)|N-terminal peptidyl-serine dimethylation (GO:0035572)|N-terminal peptidyl-serine trimethylation (GO:0035573)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein methyltransferase activity (GO:0008276)	p.D28fs*26(1)									CCCACGGTGGACGGCATGCTT	0.552																																																1	Deletion - Frameshift(1)	ovary(1)	9											170.0	139.0	149.0					9																	132395065		2203	4300	6503	131434886	SO:0001589	frameshift_variant	28989			AF110776	CCDS35160.1, CCDS69682.1, CCDS75918.1	9q34.2	2012-11-05	2012-06-12	2012-06-12	ENSG00000148335	ENSG00000148335	2.1.1.n5		23373	protein-coding gene	gene with protein product		613560	"""chromosome 9 open reading frame 32"", ""methyltransferase like 11A"""	C9orf32, METTL11A		20481588	Standard	XM_005251939		Approved	AD-003, HOMT1A	uc004byd.1	Q9BV86	OTTHUMG00000020785	ENST00000372486.1:c.83delA	9.37:g.132395065delA	ENSP00000361564:p.Asp28fs		131434886	A8K4J2|A8K8G7|Q5SZB9|Q9UI28	Frame_Shift_Del	DEL	ENST00000372486.1	37	CCDS35160.1																																																																																				0.552	NTMT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054589.1	NM_014064	
MMP28	79148	hgsc.bcm.edu	37	17	34095328	34095329	+	IGR	INS	-	-	GC			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr17:34095328_34095329insGC								C17orf50 (3230 upstream) : MMP28 (10179 downstream)														p.D306fs*28(1)									GGCTGTAGGAGTCCCAGGTCTC	0.559																																																1	Insertion - Frameshift(1)	ovary(1)	17																																								31119442	SO:0001628	intergenic_variant	79148																															17.37:g.34095328_34095329insGC			31119441		Frame_Shift_Ins	INS		37																																																																																				0	0.559								
MYBPC3	4607	hgsc.bcm.edu	37	11	47359110	47359110	+	Missense_Mutation	SNP	T	T	G			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr11:47359110T>G	ENST00000545968.1	-	25	2488	c.2434A>C	c.(2434-2436)Aag>Cag	p.K812Q	MYBPC3_ENST00000399249.2_Missense_Mutation_p.K812Q|MYBPC3_ENST00000256993.4_Missense_Mutation_p.K811Q	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	812	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.K812Q(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CTCTTCTTCTTCTTGCGCTCC	0.607																																																1	Substitution - Missense(1)	ovary(1)	11											84.0	89.0	87.0					11																	47359110		2138	4245	6383	47315686	SO:0001583	missense	4607			X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.2434A>C	11.37:g.47359110T>G	ENSP00000442795:p.Lys812Gln		47315686	A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.864919	0.91511	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.56611	0.45;0.45;0.45	4.6	4.6	0.57074	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71467	0.3343	M	0.75615	2.305	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.76038	-0.3105	9	0.87932	D	0	.	14.1697	0.65500	0.0:0.0:0.0:1.0	.	811	Q14896	MYPC3_HUMAN	Q	812;812;811	ENSP00000442795:K812Q;ENSP00000382193:K812Q;ENSP00000256993:K811Q	ENSP00000256993:K811Q	K	-	1	0	MYBPC3	47315686	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.525000	0.81892	1.941000	0.56285	0.459000	0.35465	AAG		0.607	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3		
NOM1	64434	hgsc.bcm.edu	37	7	156759098	156759098	+	Splice_Site	SNP	T	T	A			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr7:156759098T>A	ENST00000275820.3	+	8	2181		c.e8+2			NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1							nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.?(1)		endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AGATTTCAGGTAGCTTAGTGC	0.468																																																1	Unknown(1)	ovary(1)	7											135.0	118.0	124.0					7																	156759098		2203	4300	6503	156451859	SO:0001630	splice_region_variant	64434			AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 113"""	611269	"""chromosome 7 open reading frame 3"""	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.2166+2T>A	7.37:g.156759098T>A			156451859	Q96I08	Splice_Site	SNP	ENST00000275820.3	37	CCDS34787.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.024788	0.75390	.	.	ENSG00000146909	ENST00000275820	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5316	0.67929	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	NOM1	156451859	1.000000	0.71417	0.993000	0.49108	0.935000	0.57460	7.590000	0.82653	1.830000	0.53286	0.533000	0.62120	.		0.468	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400	Intron
PCDHB15	56121	hgsc.bcm.edu	37	5	140625295	140625297	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	ATG	ATG	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr5:140625295_140625297delATG	ENST00000231173.3	+	1	149_151	c.149_151delATG	c.(148-153)aatgac>aac	p.D51del		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	51	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.D51delD(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACCTGGCCAATGACCTAGGGCT	0.562																																																1	Deletion - In frame(1)	ovary(1)	5																																								140605481	SO:0001651	inframe_deletion	56121			AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.149_151delATG	5.37:g.140625295_140625297delATG	ENSP00000231173:p.Asp51del		140605479	Q8IUX5	In_Frame_Del	DEL	ENST00000231173.3	37	CCDS4257.1																																																																																				0.562	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935	
PDSS2	57107	hgsc.bcm.edu	37	6	107595359	107595359	+	Silent	SNP	T	T	C			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr6:107595359T>C	ENST00000369037.4	-	3	781	c.504A>G	c.(502-504)ttA>ttG	p.L168L	PDSS2_ENST00000453874.2_Silent_p.L168L|PDSS2_ENST00000369031.4_Silent_p.L168L	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	168					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|regulation of body fluid levels (GO:0050878)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)	p.L168L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		GCAACTCATTTAAATTTACTA	0.368																																																1	Substitution - coding silent(1)	ovary(1)	6											92.0	87.0	88.0					6																	107595359		2203	4300	6503	107702052	SO:0001819	synonymous_variant	57107			AF254956	CCDS5059.1	6q21	2006-02-14	2006-02-14	2006-02-14	ENSG00000164494	ENSG00000164494			23041	protein-coding gene	gene with protein product		610564	"""chromosome 6 open reading frame 210"""	C6orf210		16262699	Standard	NM_020381		Approved	bA59I9.3	uc003prt.2	Q86YH6	OTTHUMG00000059359	ENST00000369037.4:c.504A>G	6.37:g.107595359T>C			107702052	Q33DR4|Q4G158|Q5VU38|Q5VU39|Q9NR58	Silent	SNP	ENST00000369037.4	37	CCDS5059.1																																																																																				0.368	PDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131954.1	NM_020381	
PDZD2	23037	hgsc.bcm.edu	37	5	32090123	32090123	+	Frame_Shift_Del	DEL	T	T	-			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr5:32090123delT	ENST00000438447.1	+	20	6957	c.6569delT	c.(6568-6570)ctgfs	p.L2190fs	PDZD2_ENST00000282493.3_Frame_Shift_Del_p.L2190fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	2190	Ser-rich.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.L2190fs*64(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AAATCAAGCCTGATGTCAGAC	0.562																																																1	Deletion - Frameshift(1)	ovary(1)	5											83.0	96.0	91.0					5																	32090123		2203	4300	6503	32125880	SO:0001589	frameshift_variant	23037			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.6569delT	5.37:g.32090123delT	ENSP00000402033:p.Leu2190fs		32125880	Q9BXD4	Frame_Shift_Del	DEL	ENST00000438447.1	37	CCDS34137.1																																																																																				0.562	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1		
PER2	8864	hgsc.bcm.edu	37	2	239167255	239167255	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr2:239167255T>C	ENST00000254657.3	-	15	1937	c.1658A>G	c.(1657-1659)aAa>aGa	p.K553R	AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	553					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)	p.K553R(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		AGGGACAGCTTTCTTCTCAGC	0.498																																																1	Substitution - Missense(1)	ovary(1)	2											51.0	51.0	51.0					2																	239167255		2203	4300	6503	238831994	SO:0001583	missense	8864			AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.1658A>G	2.37:g.239167255T>C	ENSP00000254657:p.Lys553Arg		238831994	A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	T	8.618	0.890638	0.17613	.	.	ENSG00000132326	ENST00000254657	T	0.12039	2.72	4.79	-0.977	0.10282	.	1.820900	0.02248	N	0.066373	T	0.09905	0.0243	L	0.27053	0.805	0.09310	N	1	B;B	0.12630	0.006;0.002	B;B	0.09377	0.004;0.004	T	0.28202	-1.0051	10	0.20519	T	0.43	-0.7236	6.2036	0.20590	0.0:0.1626:0.4329:0.4045	.	553;553	B4DH14;O15055	.;PER2_HUMAN	R	553	ENSP00000254657:K553R	ENSP00000254657:K553R	K	-	2	0	PER2	238831994	0.004000	0.15560	0.000000	0.03702	0.039000	0.13416	0.188000	0.17018	-0.338000	0.08413	0.454000	0.30748	AAA		0.498	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817	
PFAS	5198	hgsc.bcm.edu	37	17	8170363	8170365	+	In_Frame_Del	DEL	CGG	CGG	-	rs199963268		TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	CGG	CGG	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr17:8170363_8170365delCGG	ENST00000314666.6	+	24	3118_3120	c.2985_2987delCGG	c.(2983-2988)aacggg>aag	p.995_996NG>K	PFAS_ENST00000545834.1_In_Frame_Del_p.571_572NG>K	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	995					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)	p.N995_G996>K(1)		central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	TGTCAGTGAACGGGGCTGTGGTT	0.64																																																1	Complex - deletion inframe(1)	ovary(1)	17																																								8111090	SO:0001651	inframe_deletion	5198			AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.2985_2987delCGG	17.37:g.8170363_8170365delCGG	ENSP00000313490:p.Asn995_Gly996delinsLys		8111088	A6H8V8	In_Frame_Del	DEL	ENST00000314666.6	37	CCDS11136.1																																																																																				0.640	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2		
PHKA2	5256	hgsc.bcm.edu	37	X	18915374	18915375	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	CC	CC	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chrX:18915374_18915375delCC	ENST00000379942.4	-	30	3853_3854	c.3188_3189delGG	c.(3187-3189)cggfs	p.R1063fs	PHKA2-AS1_ENST00000452900.1_RNA|PHKA2_ENST00000481718.1_5'Flank|PHKA2-AS1_ENST00000439295.1_RNA	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1063	Calmodulin-binding. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.R1063fs*54(1)		NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					ACTGGCCCTGCCGCTCACCCCA	0.634																																																1	Deletion - Frameshift(1)	ovary(1)	X																																								18825296	SO:0001589	frameshift_variant	5256				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.3188_3189delGG	X.37:g.18915374_18915375delCC	ENSP00000369274:p.Arg1063fs		18825295	A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Frame_Shift_Del	DEL	ENST00000379942.4	37	CCDS14190.1																																																																																				0.634	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292	
PTK2B	2185	hgsc.bcm.edu	37	8	27293836	27293836	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr8:27293836G>C	ENST00000397501.1	+	20	2120	c.1312G>C	c.(1312-1314)Gag>Cag	p.E438Q	PTK2B_ENST00000544172.1_Missense_Mutation_p.E438Q|PTK2B_ENST00000346049.5_Missense_Mutation_p.E438Q|PTK2B_ENST00000397497.4_Missense_Mutation_p.E184Q|PTK2B_ENST00000338238.4_Missense_Mutation_p.E438Q|PTK2B_ENST00000420218.2_Missense_Mutation_p.E438Q|PTK2B_ENST00000517339.1_Missense_Mutation_p.E438Q	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	438	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)	p.E184Q(1)|p.E438Q(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	CTTTTTTGGGGAGGTCTATGA	0.488																																																2	Substitution - Missense(2)	ovary(2)	8											293.0	266.0	276.0					8																	27293836		2203	4300	6503	27349753	SO:0001583	missense	2185			U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"""protein tyrosine kinase 2 beta"", ""PTK2B protein tyrosine kinase 2 beta"""	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.1312G>C	8.37:g.27293836G>C	ENSP00000380638:p.Glu438Gln		27349753	D3DST0|Q13475|Q14290|Q16709|Q6PID4	Missense_Mutation	SNP	ENST00000397501.1	37	CCDS6057.1	.	.	.	.	.	.	.	.	.	.	G	33	5.254465	0.95336	.	.	ENSG00000120899	ENST00000397501;ENST00000539100;ENST00000338238;ENST00000544172;ENST00000346049;ENST00000420218;ENST00000517339;ENST00000397497	D;D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.44	5.44	0.79542	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85902	0.5805	L	0.31420	0.93	0.80722	D	1	D;D;D;D	0.65815	0.982;0.995;0.989;0.995	P;D;P;D	0.66602	0.874;0.945;0.8;0.945	D	0.87576	0.2481	10	0.87932	D	0	.	16.7686	0.85531	0.0:0.0:1.0:0.0	.	443;184;438;438	Q59GM4;E9PBI4;Q14289-2;Q14289	.;.;.;FAK2_HUMAN	Q	438;443;438;438;438;438;438;184	ENSP00000380638:E438Q;ENSP00000342242:E438Q;ENSP00000440926:E438Q;ENSP00000332816:E438Q;ENSP00000391995:E438Q;ENSP00000427931:E438Q;ENSP00000380634:E184Q	ENSP00000342242:E438Q	E	+	1	0	PTK2B	27349753	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.916000	0.92745	2.558000	0.86282	0.655000	0.94253	GAG		0.488	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103	
QSER1	79832	hgsc.bcm.edu	37	11	32979495	32979495	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr11:32979495C>A	ENST00000399302.2	+	8	4780	c.4445C>A	c.(4444-4446)tCc>tAc	p.S1482Y	QSER1_ENST00000527788.1_Missense_Mutation_p.S1243Y	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1482								p.S1482Y(1)		breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					AAAGCCCCTTCCGTGAAACCC	0.388																																																1	Substitution - Missense(1)	ovary(1)	11											65.0	61.0	62.0					11																	32979495		1839	4088	5927	32936071	SO:0001583	missense	79832			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.4445C>A	11.37:g.32979495C>A	ENSP00000382241:p.Ser1482Tyr		32936071	Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	CCDS41631.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.64|19.64	3.865672|3.865672	0.71949|0.71949	.|.	.|.	ENSG00000060749|ENSG00000060749	ENST00000524678|ENST00000399302;ENST00000078652;ENST00000527788	.|T;T	.|0.26373	.|2.07;1.74	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	.|0.000000	.|0.64402	.|D	.|0.000006	T|T	0.52322|0.52322	0.1727|0.1727	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.996;0.993;1.0	.|D;P;D	.|0.85130	.|0.939;0.884;0.997	T|T	0.49173|0.49173	-0.8967|-0.8967	5|10	.|0.87932	.|D	.|0	.|.	20.2861|20.2861	0.98535|0.98535	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1243;1243;1482	.|C9JJ88;Q2KHR3-2;Q2KHR3	.|.;.;QSER1_HUMAN	T|Y	503|1482;1243;1243	.|ENSP00000382241:S1482Y;ENSP00000432766:S1243Y	.|ENSP00000078652:S1243Y	P|S	+|+	1|2	0|0	QSER1|QSER1	32936071|32936071	1.000000|1.000000	0.71417|0.71417	0.937000|0.937000	0.37676|0.37676	0.386000|0.386000	0.30323|0.30323	6.267000|6.267000	0.72546|0.72546	2.786000|2.786000	0.95864|0.95864	0.650000|0.650000	0.86243|0.86243	CCG|TCC		0.388	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774	
RASA3	22821	hgsc.bcm.edu	37	13	114817542	114817542	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr13:114817542T>A	ENST00000334062.7	-	3	383	c.262A>T	c.(262-264)Agg>Tgg	p.R88W	RASA3_ENST00000389544.4_Missense_Mutation_p.R56W|RASA3_ENST00000542651.1_Missense_Mutation_p.R88W	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	88	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)	p.R88W(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			ATGGAATCCCTCCGGAAAACG	0.463																																																1	Substitution - Missense(1)	ovary(1)	13											93.0	88.0	90.0					13																	114817542		2203	4300	6503	113835644	SO:0001583	missense	22821				CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"""Pleckstrin homology (PH) domain containing"""	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.262A>T	13.37:g.114817542T>A	ENSP00000335029:p.Arg88Trp		113835644	A6NL15|F8W6X8|Q8IUY2	Missense_Mutation	SNP	ENST00000334062.7	37	CCDS32016.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.215388	0.79352	.	.	ENSG00000185989	ENST00000334062;ENST00000389544;ENST00000542651	T;T;T	0.70749	-0.51;-0.51;2.87	4.96	2.47	0.30058	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.109676	0.64402	D	0.000008	T	0.74030	0.3663	M	0.87682	2.9	0.80722	D	1	P	0.51537	0.946	P	0.46850	0.529	T	0.72290	-0.4337	9	.	.	.	.	6.9454	0.24516	0.0:0.0807:0.1504:0.7689	.	88	Q14644	RASA3_HUMAN	W	88;56;88	ENSP00000335029:R88W;ENSP00000374195:R56W;ENSP00000439008:R88W	.	R	-	1	2	RASA3	113835644	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.962000	0.63687	0.237000	0.21200	0.460000	0.39030	AGG		0.463	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2	NM_007368	
SALL4	57167	hgsc.bcm.edu	37	20	50408303	50408303	+	Frame_Shift_Del	DEL	T	T	-			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr20:50408303delT	ENST00000217086.4	-	2	830	c.719delA	c.(718-720)aacfs	p.N240fs	SALL4_ENST00000395997.3_Frame_Shift_Del_p.N240fs|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000483130.1_5'Flank	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	240					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N240fs*18(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGCCCACATGTTCACCTGGAT	0.617																																																1	Deletion - Frameshift(1)	ovary(1)	20											36.0	37.0	36.0					20																	50408303		2203	4300	6503	49841710	SO:0001589	frameshift_variant	57167			AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.719delA	20.37:g.50408303delT	ENSP00000217086:p.Asn240fs		49841710	A2A2D8|Q540H3|Q6Y8G6	Frame_Shift_Del	DEL	ENST00000217086.4	37	CCDS13438.1																																																																																				0.617	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3		
SCN4A	6329	hgsc.bcm.edu	37	17	62022832	62022832	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr17:62022832A>T	ENST00000435607.1	-	19	3684	c.3608T>A	c.(3607-3609)gTc>gAc	p.V1203D	SCN4A_ENST00000578147.1_Missense_Mutation_p.V1203D	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1203					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.V1203D(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTTGTTGTTGACCTCGGAGAT	0.542																																																1	Substitution - Missense(1)	ovary(1)	17											241.0	243.0	242.0					17																	62022832		2194	4299	6493	59376564	SO:0001583	missense	6329			U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3608T>A	17.37:g.62022832A>T	ENSP00000396320:p.Val1203Asp		59376564	Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.070476	0.76301	.	.	ENSG00000007314	ENST00000435607	D	0.97041	-4.22	3.76	2.63	0.31362	Ion transport (1);	0.000000	0.56097	D	0.000023	D	0.97895	0.9308	M	0.88310	2.945	0.80722	D	1	D	0.56287	0.975	P	0.58577	0.841	D	0.97427	1.0013	10	0.87932	D	0	.	9.5784	0.39472	0.823:0.177:0.0:0.0	.	1203	P35499	SCN4A_HUMAN	D	1203	ENSP00000396320:V1203D	ENSP00000396320:V1203D	V	-	2	0	SCN4A	59376564	1.000000	0.71417	0.984000	0.44739	0.969000	0.65631	9.013000	0.93629	0.594000	0.29761	0.459000	0.35465	GTC		0.542	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334	
SIGLEC9	27180	hgsc.bcm.edu	37	19	51631680	51631681	+	Frame_Shift_Ins	INS	-	-	T			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr19:51631680_51631681insT	ENST00000250360.3	+	6	1183_1184	c.1116_1117insT	c.(1117-1119)tgcfs	p.C373fs	SIGLEC9_ENST00000440804.3_Frame_Shift_Ins_p.C373fs	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	373					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.C373fs*34(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GAGTGAGGTCCTGCAGGAAGAA	0.569																																																1	Insertion - Frameshift(1)	ovary(1)	19																																								56323493	SO:0001589	frameshift_variant	27180			AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.1117dupT	19.37:g.51631681_51631681dupT	ENSP00000250360:p.Cys373fs		56323492	Q6GTU4|Q9BYI9	Frame_Shift_Ins	INS	ENST00000250360.3	37	CCDS12825.1																																																																																				0.569	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441	
SPG7	6687	hgsc.bcm.edu	37	16	89613094	89613095	+	Frame_Shift_Ins	INS	-	-	G			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr16:89613094_89613095insG	ENST00000268704.2	+	11	1493_1494	c.1478_1479insG	c.(1477-1482)ctgaagfs	p.K494fs		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	494					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)	p.K494fs*27(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GAGCAGCACCTGAAGAGCCTGA	0.574																																																1	Insertion - Frameshift(1)	ovary(1)	16																																								88140596	SO:0001589	frameshift_variant	6687			Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1479dupG	16.37:g.89613095_89613095dupG	ENSP00000268704:p.Lys494fs		88140595	O75756|Q2TB70|Q58F00|Q96IB0	Frame_Shift_Ins	INS	ENST00000268704.2	37	CCDS10977.1																																																																																				0.574	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119	
SPTB	6710	hgsc.bcm.edu	37	14	65262170	65262172	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	CAT	CAT	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr14:65262170_65262172delCAT	ENST00000389721.5	-	11	1559_1561	c.1527_1529delATG	c.(1525-1530)ctatgg>ctg	p.W510del	SPTB_ENST00000389722.3_In_Frame_Del_p.W510del|SPTB_ENST00000556626.1_In_Frame_Del_p.W510del|SPTB_ENST00000542895.1_In_Frame_Del_p.W510del|SPTB_ENST00000389720.3_In_Frame_Del_p.W510del	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	510					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.W510delW(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CAGGTAGCTCCATAGGCGCAGTA	0.611																																																1	Deletion - In frame(1)	ovary(1)	14																																								64331925	SO:0001651	inframe_deletion	6710				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.1527_1529delATG	14.37:g.65262170_65262172delCAT	ENSP00000374371:p.Trp510del		64331923	Q15510|Q15519	In_Frame_Del	DEL	ENST00000389721.5	37	CCDS32100.1																																																																																				0.611	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1		
SPTBN2	6712	hgsc.bcm.edu	37	11	66457568	66457568	+	Nonsense_Mutation	SNP	C	C	A			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr11:66457568C>A	ENST00000533211.1	-	28	6083	c.5752G>T	c.(5752-5754)Gaa>Taa	p.E1918*	SPTBN2_ENST00000309996.2_Nonsense_Mutation_p.E1918*|SPTBN2_ENST00000529997.1_Nonsense_Mutation_p.E1918*			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1918					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)	p.E1918*(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						AGCATCAGTTCCCGGACAGCC	0.647																																																1	Substitution - Nonsense(1)	ovary(1)	11											116.0	116.0	116.0					11																	66457568		2200	4295	6495	66214144	SO:0001587	stop_gained	6712			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.5752G>T	11.37:g.66457568C>A	ENSP00000432568:p.Glu1918*		66214144	O14872|O14873	Nonsense_Mutation	SNP	ENST00000533211.1	37	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	47	13.771287	0.99762	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	.	.	.	5.12	5.12	0.69794	.	0.106571	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	17.4906	0.87702	0.0:1.0:0.0:0.0	.	.	.	.	X	1918	.	ENSP00000311489:E1918X	E	-	1	0	SPTBN2	66214144	1.000000	0.71417	1.000000	0.80357	0.485000	0.33311	7.599000	0.82757	2.664000	0.90586	0.655000	0.94253	GAA		0.647	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946	
SYT5	6861	hgsc.bcm.edu	37	19	55687457	55687458	+	Frame_Shift_Ins	INS	-	-	A			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr19:55687457_55687458insA	ENST00000354308.3	-	4	656_657	c.287_288insT	c.(286-288)ccafs	p.P96fs	SYT5_ENST00000592935.1_5'Flank|SYT5_ENST00000537500.1_Frame_Shift_Ins_p.P96fs|SYT5_ENST00000590851.1_Frame_Shift_Ins_p.P93fs|CTD-2587H24.5_ENST00000591665.1_RNA	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	96					calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.S97fs*12(1)		kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CTGGCCCGGATGGTGCTGGCTC	0.579																																																1	Insertion - Frameshift(1)	ovary(1)	19																																								60379270	SO:0001589	frameshift_variant	6861			X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"""Synaptotagmins"""	11513	protein-coding gene	gene with protein product	"""synaptotagmin 5"""	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.287_288insT	19.37:g.55687457_55687458insA	ENSP00000346265:p.Pro96fs		60379269	B3KWJ8|B7Z300|Q86X72	Frame_Shift_Ins	INS	ENST00000354308.3	37	CCDS12919.1																																																																																				0.579	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	NM_003180	
TECPR2	9895	hgsc.bcm.edu	37	14	102901037	102901037	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr14:102901037A>T	ENST00000359520.7	+	9	2109	c.1883A>T	c.(1882-1884)gAa>gTa	p.E628V	TECPR2_ENST00000558678.1_Missense_Mutation_p.E628V	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	628					autophagy (GO:0006914)|cell death (GO:0008219)			p.E628V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CATGATGGGGAAGACATCCAA	0.562																																																1	Substitution - Missense(1)	ovary(1)	14											68.0	51.0	57.0					14																	102901037		2203	4300	6503	101970790	SO:0001583	missense	9895			AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.1883A>T	14.37:g.102901037A>T	ENSP00000352510:p.Glu628Val		101970790	A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	A	11.76	1.734430	0.30774	.	.	ENSG00000196663	ENST00000359520	T	0.16457	2.34	5.33	-3.46	0.04767	.	2.197700	0.01621	N	0.023032	T	0.08670	0.0215	N	0.14661	0.345	0.09310	N	1	B;B	0.18610	0.029;0.029	B;B	0.14023	0.01;0.01	T	0.16897	-1.0387	9	.	.	.	.	2.6928	0.05125	0.5134:0.1338:0.2488:0.1041	.	628;628	A5PKY3;O15040	.;TCPR2_HUMAN	V	628	ENSP00000352510:E628V	.	E	+	2	0	TECPR2	101970790	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.106000	0.15354	-0.961000	0.03609	0.374000	0.22700	GAA		0.562	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844	
TRIM59	286827	hgsc.bcm.edu	37	3	160156368	160156368	+	Frame_Shift_Del	DEL	T	T	-			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr3:160156368delT	ENST00000309784.4	-	3	789	c.604delA	c.(604-606)agtfs	p.S202fs	TRIM59_ENST00000543469.1_Frame_Shift_Del_p.S202fs|RP11-432B6.3_ENST00000483754.1_Frame_Shift_Del_p.S202fs	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	202					innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral entry into host cell (GO:0046597)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S202fs*3(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GTTAGGAAACTTTTTTTTTTC	0.343																																																1	Deletion - Frameshift(1)	ovary(1)	3											59.0	62.0	61.0					3																	160156368		2195	4299	6494	161639062	SO:0001589	frameshift_variant	286827			AY159379	CCDS3190.1	3q26	2013-01-09	2011-01-25		ENSG00000213186	ENSG00000213186		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	30834	protein-coding gene	gene with protein product			"""tripartite motif-containing 57"", ""tripartite motif-containing 59"""	TRIM57		12095697	Standard	NM_173084		Approved	TSBF1, Mrf1, RNF104	uc003fdm.3	Q8IWR1	OTTHUMG00000159034	ENST00000309784.4:c.604delA	3.37:g.160156368delT	ENSP00000311219:p.Ser202fs		161639062	A8K5G9|D3DNL9	Frame_Shift_Del	DEL	ENST00000309784.4	37	CCDS3190.1																																																																																				0.343	TRIM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352963.1	NM_173084	
TRPM3	80036	hgsc.bcm.edu	37	9	73478010	73478010	+	Frame_Shift_Del	DEL	C	C	-			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr9:73478010delC	ENST00000377111.2	-	3	519	c.276delG	c.(274-276)ctgfs	p.L92fs	TRPM3_ENST00000377097.3_5'Flank|TRPM3_ENST00000377110.3_Frame_Shift_Del_p.L92fs|TRPM3_ENST00000377101.1_5'UTR|TRPM3_ENST00000377106.1_5'UTR|TRPM3_ENST00000361823.5_5'UTR|TRPM3_ENST00000396285.1_5'Flank|TRPM3_ENST00000396283.1_5'UTR|TRPM3_ENST00000360823.2_5'UTR|TRPM3_ENST00000423814.3_Frame_Shift_Del_p.L94fs|TRPM3_ENST00000396280.5_5'Flank|TRPM3_ENST00000358082.3_5'Flank|TRPM3_ENST00000437699.3_5'UTR|TRPM3_ENST00000396292.4_5'Flank|TRPM3_ENST00000357533.2_Frame_Shift_Del_p.L94fs|TRPM3_ENST00000377105.1_5'UTR|TRPM3_ENST00000408909.2_5'Flank	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	92					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)	p.I95fs*1(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GCTGGCCTATCAGACGCCCAC	0.473																																																1	Deletion - Frameshift(1)	ovary(1)	9											78.0	85.0	82.0					9																	73478010		2203	4299	6502	72667830	SO:0001589	frameshift_variant	80036			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.276delG	9.37:g.73478010delC	ENSP00000366315:p.Leu92fs		72667830	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Frame_Shift_Del	DEL	ENST00000377111.2	37																																																																																					0.473	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945	
TTN	7273	hgsc.bcm.edu	37	2	179426390	179426390	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr2:179426390G>T	ENST00000591111.1	-	276	79770	c.79546C>A	c.(79546-79548)Cct>Act	p.P26516T	TTN_ENST00000589042.1_Missense_Mutation_p.P28157T|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P25589T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P19284T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P19217T|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P19092T|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26516	Fibronectin type-III 93. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.P19284T(1)|p.P25587T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTACCAGGAGGACCTGGGGGA	0.463																																																2	Substitution - Missense(2)	ovary(2)	2											87.0	87.0	87.0					2																	179426390		1899	4109	6008	179134636	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.79546C>A	2.37:g.179426390G>T	ENSP00000465570:p.Pro26516Thr		179134636	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	14.26	2.482374	0.44147	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	6.01	6.01	0.97437	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79118	0.4392	M	0.85777	2.775	0.80722	D	1	D;D;D;D	0.63880	0.993;0.993;0.993;0.988	D;D;D;P	0.63113	0.911;0.911;0.911;0.875	T	0.80915	-0.1169	9	0.87932	D	0	.	20.5073	0.99209	0.0:0.0:1.0:0.0	.	19092;19217;19284;26516	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	25589;19092;19284;19217;19090	ENSP00000343764:P25589T;ENSP00000434586:P19092T;ENSP00000340554:P19284T;ENSP00000352154:P19217T	ENSP00000340554:P19284T	P	-	1	0	TTN	179134636	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	6.642000	0.74329	2.855000	0.98099	0.585000	0.79938	CCT		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
UBA1	7317	hgsc.bcm.edu	37	X	47060332	47060332	+	Frame_Shift_Del	DEL	C	C	-			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chrX:47060332delC	ENST00000335972.6	+	6	703	c.520delC	c.(520-522)cgafs	p.R174fs	UBA1_ENST00000377351.4_Frame_Shift_Del_p.R174fs	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	174	2 approximate repeats.				cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)	p.R174fs*33(1)		breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGACCAGCTGCGAGTGGGTGA	0.632																																																1	Deletion - Frameshift(1)	ovary(1)	X											69.0	51.0	57.0					X																	47060332		2202	4296	6498	46945276	SO:0001589	frameshift_variant	7317			AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"""Ubiquitin-like modifier activating enzymes"""	12469	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	314370	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.520delC	X.37:g.47060332delC	ENSP00000338413:p.Arg174fs		46945276	Q5JRR8|Q96E13	Frame_Shift_Del	DEL	ENST00000335972.6	37	CCDS14275.1																																																																																				0.632	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334	
USP6	9098	hgsc.bcm.edu	37	17	5037241	5037241	+	Silent	SNP	G	G	A	rs117611547		TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr17:5037241G>A	ENST00000574788.1	+	15	2674	c.444G>A	c.(442-444)gtG>gtA	p.V148V	USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Silent_p.V148V|USP6_ENST00000332776.4_Silent_p.V148V			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	148	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)	p.V148V(3)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ACCTGGACGTGAGGACGACTC	0.557			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																		Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	3	Substitution - coding silent(3)	ovary(2)|skin(1)	17											220.0	174.0	189.0					17																	5037241		2203	4300	6503	4977965	SO:0001819	synonymous_variant	9098			X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.444G>A	17.37:g.5037241G>A			4977965	Q15634|Q86WP6|Q8IWT4	Silent	SNP	ENST00000574788.1	37	CCDS11069.2																																																																																				0.557	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505	
VPS13B	157680	hgsc.bcm.edu	37	8	100866453	100866453	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr8:100866453G>T	ENST00000358544.2	+	56	11022	c.10911G>T	c.(10909-10911)atG>atT	p.M3637I	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.M3612I	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3637					protein transport (GO:0015031)			p.M3637I(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCCTGGCAATGCACTATGCCG	0.552																																					Colon(161;2205 2542 7338 31318)											1	Substitution - Missense(1)	ovary(1)	8											70.0	57.0	62.0					8																	100866453		2203	4300	6503	100935629	SO:0001583	missense	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.10911G>T	8.37:g.100866453G>T	ENSP00000351346:p.Met3637Ile		100935629	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.159237	0.57368	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.69806	-0.43;-0.43	5.5	4.62	0.57501	.	0.041837	0.85682	N	0.000000	T	0.65933	0.2739	M	0.66939	2.045	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.63681	-0.6582	10	0.48119	T	0.1	.	15.6996	0.77533	0.0:0.0:0.862:0.138	.	3612;3637	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	I	3612;3637	ENSP00000349685:M3612I;ENSP00000351346:M3637I	ENSP00000349685:M3612I	M	+	3	0	VPS13B	100935629	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.387000	0.79785	1.287000	0.44583	0.650000	0.86243	ATG		0.552	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042	
WDR33	55339	hgsc.bcm.edu	37	2	128463979	128463980	+	Frame_Shift_Ins	INS	-	-	CACTTCT			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr2:128463979_128463980insCACTTCT	ENST00000322313.4	-	22	4086_4087	c.3928_3929insAGAAGTG	c.(3928-3930)ggcfs	p.G1310fs		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1310					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G1310fs*5(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CCAGTTACTGCCACTCCGGCCC	0.609																																																1	Insertion - Frameshift(1)	ovary(1)	2																																								128180450	SO:0001589	frameshift_variant	55339				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.3928_3929insAGAAGTG	2.37:g.128463979_128463980insCACTTCT	ENSP00000325377:p.Gly1310fs		128180449	Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Frame_Shift_Ins	INS	ENST00000322313.4	37	CCDS2150.1																																																																																				0.609	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383	
WSCD1	23302	hgsc.bcm.edu	37	17	5993765	5993767	+	In_Frame_Del	DEL	GGG	GGG	-			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	GGG	GGG	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr17:5993765_5993767delGGG	ENST00000574946.1	+	4	1057_1059	c.667_669delGGG	c.(667-669)gggdel	p.G223del	WSCD1_ENST00000573634.1_In_Frame_Del_p.G107del|WSCD1_ENST00000539421.1_In_Frame_Del_p.G223del|WSCD1_ENST00000317744.5_In_Frame_Del_p.G223del|WSCD1_ENST00000574232.1_In_Frame_Del_p.G223del			Q658N2	WSCD1_HUMAN	WSC domain containing 1	223	WSC 1. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)	p.G223delG(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						CTCTGTGTGCGGGGCTGTGGACC	0.655																																																1	Deletion - In frame(1)	ovary(1)	17																																								5934491	SO:0001651	inframe_deletion	23302				CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.667_669delGGG	17.37:g.5993765_5993767delGGG	ENSP00000460825:p.Gly223del		5934489	A8K0N8|D3DTM3|O60276|Q96G45	In_Frame_Del	DEL	ENST00000574946.1	37	CCDS32538.1																																																																																				0.655	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253	
ZMIZ2	83637	hgsc.bcm.edu	37	7	44804074	44804074	+	Nonsense_Mutation	SNP	T	T	A			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr7:44804074T>A	ENST00000309315.4	+	14	2040	c.1917T>A	c.(1915-1917)tgT>tgA	p.C639*	ZMIZ2_ENST00000441627.1_Nonsense_Mutation_p.C639*|ZMIZ2_ENST00000433667.1_Nonsense_Mutation_p.C607*|ZMIZ2_ENST00000265346.7_Nonsense_Mutation_p.C613*|ZMIZ2_ENST00000413916.1_Nonsense_Mutation_p.C581*	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	639					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)	p.C639*(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTTGGAGGTGTCCTGTGTGCA	0.517																																					NSCLC(20;604 852 1948 16908 50522)											1	Substitution - Nonsense(1)	ovary(1)	7											109.0	118.0	115.0					7																	44804074		2202	4300	6502	44770599	SO:0001587	stop_gained	83637			AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.1917T>A	7.37:g.44804074T>A	ENSP00000311778:p.Cys639*		44770599	A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Nonsense_Mutation	SNP	ENST00000309315.4	37	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	T	38	6.775669	0.97829	.	.	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	.	.	.	5.05	0.316	0.15857	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.443	7.4739	0.27365	0.0:0.394:0.0:0.606	.	.	.	.	X	581;639;639;607;613;642	.	ENSP00000265346:C613X	C	+	3	2	ZMIZ2	44770599	0.999000	0.42202	0.997000	0.53966	0.954000	0.61252	0.535000	0.23114	0.191000	0.20236	-0.608000	0.04076	TGT		0.517	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449	
ZNF281	23528	hgsc.bcm.edu	37	1	200377683	200377683	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr1:200377683T>C	ENST00000294740.3	-	2	1275	c.1151A>G	c.(1150-1152)aAc>aGc	p.N384S	ZNF281_ENST00000367353.1_Missense_Mutation_p.N384S|ZNF281_ENST00000367352.3_Missense_Mutation_p.N348S	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	384					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.N384S(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						ATTGGTATGGTTTGATGACCC	0.398																																																1	Substitution - Missense(1)	ovary(1)	1											145.0	147.0	147.0					1																	200377683		2203	4300	6503	198644306	SO:0001583	missense	23528			AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"""Zinc fingers, C2H2-type"""	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.1151A>G	1.37:g.200377683T>C	ENSP00000294740:p.Asn384Ser		198644306	A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	ENST00000294740.3	37	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	T	2.419	-0.333518	0.05278	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.07688	3.18;3.18;3.17	5.76	2.14	0.27477	.	0.494294	0.22265	N	0.062356	T	0.05044	0.0135	N	0.24115	0.695	0.30667	N	0.753785	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.35773	-0.9775	10	0.18710	T	0.47	-0.495	7.4539	0.27255	0.0:0.0765:0.2406:0.6829	.	348;384	A6NF48;Q9Y2X9	.;ZN281_HUMAN	S	384;384;348;89	ENSP00000294740:N384S;ENSP00000356322:N384S;ENSP00000356321:N348S	ENSP00000294740:N384S	N	-	2	0	ZNF281	198644306	1.000000	0.71417	0.687000	0.30102	0.997000	0.91878	2.344000	0.44010	0.101000	0.17610	0.533000	0.62120	AAC		0.398	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482	
ADAMTS12	81792	hgsc.bcm.edu	37	5	33881281	33881281	+	Silent	SNP	C	C	T			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr5:33881281C>T	ENST00000504830.1	-	2	767	c.432G>A	c.(430-432)acG>acA	p.T144T	ADAMTS12_ENST00000515401.1_Silent_p.T144T|ADAMTS12_ENST00000352040.3_Silent_p.T144T	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	144					cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T144T(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GCTGTAGAACCGTGCCACTGA	0.567										HNSCC(64;0.19)																																						1	Substitution - coding silent(1)	ovary(1)	5											60.0	59.0	59.0					5																	33881281		2203	4300	6503	33917038	SO:0001819	synonymous_variant	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.432G>A	5.37:g.33881281C>T			33917038	A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	CCDS34140.1																																																																																				0.567	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	
ANKRD23	200539	hgsc.bcm.edu	37	2	97508245	97508245	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr2:97508245T>C	ENST00000318357.4	-	2	72	c.31A>G	c.(31-33)Agt>Ggt	p.S11G	ANKRD23_ENST00000418232.1_Missense_Mutation_p.S11G|ANKRD23_ENST00000476975.1_5'Flank|ANKRD23_ENST00000331001.2_Missense_Mutation_p.S11G	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23	11					fatty acid metabolic process (GO:0006631)|response to mechanical stimulus (GO:0009612)	I band (GO:0031674)|intercalated disc (GO:0014704)|nucleus (GO:0005634)	titin binding (GO:0031432)	p.S11G(1)		endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						CTTTCTCCACTTACCTGTAGG	0.512																																																1	Substitution - Missense(1)	ovary(1)	2											58.0	62.0	61.0					2																	97508245		2203	4300	6503	96871972	SO:0001583	missense	200539				CCDS2027.1	2q11.2	2013-01-10			ENSG00000163126	ENSG00000163126		"""Ankyrin repeat domain containing"""	24470	protein-coding gene	gene with protein product	"""diabetes related ankyrin repeat protein"""	610736				12456686	Standard	NM_144994		Approved	DARP, FLJ32449, MARP3	uc002sxa.3	Q86SG2	OTTHUMG00000130534	ENST00000318357.4:c.31A>G	2.37:g.97508245T>C	ENSP00000321679:p.Ser11Gly		96871972	Q711K7|Q8NAJ7	Missense_Mutation	SNP	ENST00000318357.4	37	CCDS2027.1	.	.	.	.	.	.	.	.	.	.	T	14.56	2.571946	0.45798	.	.	ENSG00000163126	ENST00000318357;ENST00000418232;ENST00000331001	T;T;T	0.75050	-0.65;-0.65;-0.9	5.07	1.14	0.20703	.	0.310906	0.23228	N	0.050496	T	0.62109	0.2401	L	0.32530	0.975	0.80722	D	1	P;P	0.39665	0.621;0.682	B;B	0.40165	0.205;0.321	T	0.57929	-0.7726	10	0.66056	D	0.02	-1.1611	8.4641	0.32944	0.5451:0.0:0.0:0.4549	.	11;11	Q86SG2-2;Q86SG2	.;ANR23_HUMAN	G	11	ENSP00000321679:S11G;ENSP00000398987:S11G;ENSP00000333108:S11G	ENSP00000321679:S11G	S	-	1	0	ANKRD23	96871972	1.000000	0.71417	0.997000	0.53966	0.765000	0.43378	0.420000	0.21263	0.033000	0.15463	-0.451000	0.05528	AGT		0.512	ANKRD23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252956.1	NM_144994	
DLGAP3	58512	hgsc.bcm.edu	37	1	35370273	35370273	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr1:35370273G>A	ENST00000373347.1	-	3	980	c.712C>T	c.(712-714)Cac>Tac	p.H238Y	DLGAP3_ENST00000495979.1_5'Flank|DLGAP3_ENST00000235180.4_Missense_Mutation_p.H238Y			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	238					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)	p.H238Y(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CTCTTGCCGTGCCGGGACtgg	0.642																																																1	Substitution - Missense(1)	ovary(1)	1											105.0	90.0	95.0					1																	35370273		2203	4300	6503	35142860	SO:0001583	missense	58512			AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.712C>T	1.37:g.35370273G>A	ENSP00000362444:p.His238Tyr		35142860	Q5TDD5|Q9H3X7	Missense_Mutation	SNP	ENST00000373347.1	37	CCDS30670.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332844	0.41297	.	.	ENSG00000116544	ENST00000373347;ENST00000235180	T;T	0.27720	1.65;1.65	4.72	4.72	0.59763	.	0.369798	0.30611	N	0.009253	T	0.37348	0.1000	L	0.46157	1.445	0.38912	D	0.957561	D	0.53885	0.963	P	0.50082	0.63	T	0.13202	-1.0518	10	0.21014	T	0.42	-9.9763	18.0504	0.89345	0.0:0.0:1.0:0.0	.	238	O95886	DLGP3_HUMAN	Y	238	ENSP00000362444:H238Y;ENSP00000235180:H238Y	ENSP00000235180:H238Y	H	-	1	0	DLGAP3	35142860	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	4.247000	0.58750	2.339000	0.79563	0.563000	0.77884	CAC		0.642	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234	
EFEMP1	2202	hgsc.bcm.edu	37	2	56108754	56108754	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr2:56108754C>A	ENST00000394555.2	-	5	1068	c.633G>T	c.(631-633)caG>caT	p.Q211H	EFEMP1_ENST00000424836.2_Missense_Mutation_p.Q153H|EFEMP1_ENST00000394554.1_Missense_Mutation_p.Q211H|EFEMP1_ENST00000355426.3_Missense_Mutation_p.Q211H	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	211	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)	p.Q211H(1)		NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TACCTACGCACTGCTCCCCTC	0.493																																					GBM(92;934 1319 7714 28760 40110)											1	Substitution - Missense(1)	ovary(1)	2											228.0	165.0	186.0					2																	56108754		2203	4300	6503	55962258	SO:0001583	missense	2202			U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"""Fibulins"""	3218	protein-coding gene	gene with protein product	"""fibulin 3"""	601548	"""fibrillin-like"", ""EGF-containing fibulin-like extracellular matrix protein 1"""	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.633G>T	2.37:g.56108754C>A	ENSP00000378058:p.Gln211His		55962258	A8K3I4|B4DW75|D6W5D2|Q541U7	Missense_Mutation	SNP	ENST00000394555.2	37	CCDS1857.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.227643	0.39399	.	.	ENSG00000115380	ENST00000394555;ENST00000394554;ENST00000405693;ENST00000424836;ENST00000355426	D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99	5.91	4.12	0.48240	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000013	D	0.83069	0.5174	N	0.11756	0.17	0.31257	N	0.693363	B;B	0.28419	0.211;0.15	B;B	0.31101	0.024;0.124	T	0.78795	-0.2064	10	0.31617	T	0.26	.	9.5218	0.39140	0.0:0.727:0.0:0.273	.	153;211	B4DW75;Q12805	.;FBLN3_HUMAN	H	211;211;67;153;211	ENSP00000378058:Q211H;ENSP00000378057:Q211H;ENSP00000399145:Q153H;ENSP00000347596:Q211H	ENSP00000347596:Q211H	Q	-	3	2	EFEMP1	55962258	0.999000	0.42202	1.000000	0.80357	0.346000	0.29079	0.552000	0.23376	0.843000	0.35070	-0.140000	0.14226	CAG		0.493	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2		
F11R	50848	hgsc.bcm.edu	37	1	160970451	160970451	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr1:160970451C>A	ENST00000368026.6	-	4	632	c.358G>T	c.(358-360)Ggg>Tgg	p.G120W	F11R_ENST00000472573.1_5'UTR|F11R_ENST00000289779.3_3'UTR|F11R_ENST00000537746.1_Intron	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	120	Ig-like V-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.G120W(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			TTGACCTCCCCATAGCTGTTG	0.537																																																1	Substitution - Missense(1)	ovary(1)	1											215.0	149.0	171.0					1																	160970451		2203	4300	6503	159237075	SO:0001583	missense	50848			AF111713	CCDS1213.1	1q21.2-q21.3	2013-01-29	2003-02-07	2003-02-14	ENSG00000158769	ENSG00000158769		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14685	protein-coding gene	gene with protein product		605721	"""junctional adhesion molecule 1"""	JAM1		10395639, 7646439	Standard	NM_016946		Approved	PAM-1, JCAM, JAM-1, JAM-A, JAMA, CD321	uc009wtt.3	Q9Y624	OTTHUMG00000028602	ENST00000368026.6:c.358G>T	1.37:g.160970451C>A	ENSP00000357005:p.Gly120Trp		159237075	B7Z941	Missense_Mutation	SNP	ENST00000368026.6	37	CCDS1213.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.100783	0.76983	.	.	ENSG00000158769	ENST00000368026;ENST00000335772;ENST00000289779;ENST00000436182	T;T	0.71103	-0.54;-0.54	5.36	5.36	0.76844	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.119781	0.56097	D	0.000033	D	0.84129	0.5404	M	0.86651	2.83	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.86862	0.2030	10	0.87932	D	0	.	16.5755	0.84635	0.0:1.0:0.0:0.0	.	124;120;120;120	B7Z5W1;Q6FIB4;Q9Y624;D3DVF0	.;.;JAM1_HUMAN;.	W	120;120;120;124	ENSP00000357005:G120W;ENSP00000394809:G124W	ENSP00000289779:G120W	G	-	1	0	F11R	159237075	0.981000	0.34729	0.964000	0.40570	0.718000	0.41266	4.173000	0.58249	2.495000	0.84180	0.563000	0.77884	GGG		0.537	F11R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071458.3	NM_016946	
GPATCH8	23131	hgsc.bcm.edu	37	17	42478484	42478484	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr17:42478484C>T	ENST00000591680.1	-	8	991	c.961G>A	c.(961-963)Gac>Aac	p.D321N	GPATCH8_ENST00000434000.1_Missense_Mutation_p.D243N	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	321							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.D321N(1)		breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TCCGCATGGTCCTTGAAAACT	0.453											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	17											157.0	170.0	165.0					17																	42478484		2203	4300	6503	39834010	SO:0001583	missense	23131			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.961G>A	17.37:g.42478484C>T	ENSP00000467556:p.Asp321Asn	909	39834010	B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.339399	0.60963	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.16597	2.33	5.75	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.38532	0.1044	L	0.58101	1.795	0.53688	D	0.999978	D	0.89917	1.0	D	0.83275	0.996	T	0.09271	-1.0682	10	0.72032	D	0.01	-19.4029	15.579	0.76418	0.1384:0.8616:0.0:0.0	.	321	Q9UKJ3	GPTC8_HUMAN	N	321;243	ENSP00000395016:D243N	ENSP00000335486:D321N	D	-	1	0	GPATCH8	39834010	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.814000	0.69208	2.701000	0.92244	0.557000	0.71058	GAC		0.453	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909	
IFRD2	7866	hgsc.bcm.edu	37	3	50327841	50327841	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr3:50327841C>G	ENST00000429673.2	-	3	432	c.433G>C	c.(433-435)Gtg>Ctg	p.V145L	IFRD2_ENST00000484043.1_5'UTR|IFRD2_ENST00000336089.4_Missense_Mutation_p.V247L|IFRD2_ENST00000436390.1_Missense_Mutation_p.V81L|IFRD2_ENST00000417626.2_Missense_Mutation_p.V81L			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	145						nucleus (GO:0005634)		p.V247L(1)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AGACAGTCCACATACTCCTTC	0.587																																																1	Substitution - Missense(1)	ovary(1)	3											94.0	99.0	97.0					3																	50327841		2088	4209	6297	50302845	SO:0001583	missense	7866			U09585		3p21.3	2008-07-18			ENSG00000214706	ENSG00000214706			5457	protein-coding gene	gene with protein product	"""interferon-related protein"""	602725				9050919	Standard	NM_006764		Approved	SKMc15, SM15, IFNRP	uc011bdp.2	Q12894	OTTHUMG00000156935	ENST00000429673.2:c.433G>C	3.37:g.50327841C>G	ENSP00000398971:p.Val145Leu		50302845	Q9BVB4|Q9UJ88	Missense_Mutation	SNP	ENST00000429673.2	37	CCDS46831.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.917091	0.52546	.	.	ENSG00000214706	ENST00000417626;ENST00000436390;ENST00000336089;ENST00000429673	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	5.2	4.2	0.49525	Interferon-related developmental regulator, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.053108	0.64402	D	0.000002	T	0.35970	0.0950	N	0.11560	0.145	0.41292	D	0.986984	P;P	0.39535	0.677;0.677	B;B	0.42882	0.284;0.401	T	0.14531	-1.0469	10	0.30078	T	0.28	-18.655	4.6923	0.12786	0.0:0.7358:0.0:0.2642	.	145;247	Q12894;Q9UJ88	IFRD2_HUMAN;.	L	81;81;247;145	ENSP00000402849:V81L;ENSP00000392316:V81L;ENSP00000336936:V247L;ENSP00000398971:V145L	ENSP00000336936:V247L	V	-	1	0	IFRD2	50302845	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.331000	0.59273	2.402000	0.81655	0.655000	0.94253	GTG		0.587	IFRD2-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006764	
MAGEB17	645864	hgsc.bcm.edu	37	X	16189394	16189394	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chrX:16189394G>A	ENST00000400004.2	+	2	1241	c.889G>A	c.(889-891)Gtt>Att	p.V297I	MAGEB17_ENST00000400003.1_Missense_Mutation_p.V297I|RP11-431J24.2_ENST00000435789.1_RNA|MAGEB17_ENST00000329538.5_Missense_Mutation_p.V297I	NM_001277307.1	NP_001264236.1	A8MXT2	MAGBH_HUMAN	melanoma antigen family B, 17	297	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.V297I(1)									CAATGATACCGTTGCCAGTAC	0.592																																																1	Substitution - Missense(1)	ovary(1)	X																																								16099315	SO:0001583	missense	645864				CCDS59524.1	Xp22.2	2010-05-26	2005-11-07		ENSG00000182798	ENSG00000182798			17418	protein-coding gene	gene with protein product		300763	"""melanoma antigen family B, 17 (pseudogene)"""			11454705	Standard	NM_001277307		Approved		uc031tgu.1	A8MXT2	OTTHUMG00000021188	ENST00000400004.2:c.889G>A	X.37:g.16189394G>A	ENSP00000382884:p.Val297Ile		16099315	A6NE98	Missense_Mutation	SNP	ENST00000400004.2	37	CCDS59524.1	.	.	.	.	.	.	.	.	.	.	G	8.370	0.835136	0.16820	.	.	ENSG00000182798	ENST00000400004;ENST00000400003;ENST00000329538	T;T;T	0.01560	4.77;4.77;4.77	2.66	0.785	0.18584	.	0.826437	0.10290	N	0.692436	T	0.01870	0.0059	L	0.39692	1.235	0.09310	N	1	.	.	.	.	.	.	T	0.48658	-0.9016	8	0.22706	T	0.39	.	3.2328	0.06754	0.1734:0.2779:0.5487:0.0	.	.	.	.	I	297	ENSP00000382884:V297I;ENSP00000382883:V297I;ENSP00000328274:V297I	ENSP00000328274:V297I	V	+	1	0	MAGEB17	16099315	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.079000	0.11357	0.086000	0.17137	0.513000	0.50165	GTT		0.592	MAGEB17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251018.2	XM_066701	
MYL1	4632	hgsc.bcm.edu	37	2	211158973	211158973	+	Silent	SNP	G	G	T	rs377511663		TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr2:211158973G>T	ENST00000352451.3	-	4	621	c.474C>A	c.(472-474)acC>acA	p.T158T	MYL1_ENST00000341685.4_Silent_p.T114T|MYL1_ENST00000496436.1_5'UTR	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	158	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|sarcomere (GO:0030017)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)	p.T158T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		CCTTACCCAGGGTGGCTAGAA	0.453																																																1	Substitution - coding silent(1)	ovary(1)	2						G	,	1,4405	2.1+/-5.4	0,1,2202	92.0	78.0	83.0		474,342	0.6	1.0	2		83	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MYL1	NM_079420.2,NM_079422.2	,	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	,	158/195,114/151	211158973	1,13005	2203	4300	6503	210867218	SO:0001819	synonymous_variant	4632				CCDS2390.1, CCDS2391.1	2q33-q34	2013-01-10	2006-09-29		ENSG00000168530	ENSG00000168530		"""Myosins / Light chain"", ""EF-hand domain containing"""	7582	protein-coding gene	gene with protein product		160780	"""myosin, light polypeptide 1, alkali; skeletal, fast"""			2304459, 3422212	Standard	NM_079422		Approved		uc002vec.3	P05976	OTTHUMG00000132992	ENST00000352451.3:c.474C>A	2.37:g.211158973G>T			210867218	B2R4N6|B2R4T6|P06741|Q6IBD5	Silent	SNP	ENST00000352451.3	37	CCDS2390.1																																																																																				0.453	MYL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256566.2	NM_079420	
NKTR	4820	hgsc.bcm.edu	37	3	42680647	42680647	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr3:42680647G>A	ENST00000232978.8	+	13	3639	c.3451G>A	c.(3451-3453)Gca>Aca	p.A1151T	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1151					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.A1151T(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TCTAGGAAATGCACGGCTTGA	0.463																																																1	Substitution - Missense(1)	ovary(1)	3											87.0	87.0	87.0					3																	42680647		2203	4300	6503	42655651	SO:0001583	missense	4820				CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.3451G>A	3.37:g.42680647G>A	ENSP00000232978:p.Ala1151Thr		42655651		Missense_Mutation	SNP	ENST00000232978.8	37	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772636	0.31411	.	.	ENSG00000114857	ENST00000232978	T	0.81330	-1.48	5.05	-5.64	0.02466	.	1.176370	0.06238	N	0.689824	T	0.59155	0.2173	N	0.22421	0.69	0.09310	N	0.999998	P;B	0.42248	0.774;0.0	B;B	0.36608	0.229;0.0	T	0.54906	-0.8223	10	0.32370	T	0.25	1.1894	2.4707	0.04563	0.0991:0.3051:0.214:0.3819	.	851;1151	Q6M1B8;P30414	.;NKTR_HUMAN	T	1151	ENSP00000232978:A1151T	ENSP00000232978:A1151T	A	+	1	0	NKTR	42655651	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	-0.113000	0.10774	-0.895000	0.03920	-0.474000	0.04947	GCA		0.463	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385	
PTPRG	5793	hgsc.bcm.edu	37	3	62142767	62142767	+	Missense_Mutation	SNP	G	G	T	rs200434651		TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr3:62142767G>T	ENST00000474889.1	+	7	1086	c.709G>T	c.(709-711)Gtc>Ttc	p.V237F	PTPRG_ENST00000295874.10_Missense_Mutation_p.V237F	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	237	Alpha-carbonic anhydrase.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.V237F(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GGATCCTTTCGTCCTCCGGGA	0.512																																																1	Substitution - Missense(1)	ovary(1)	3											124.0	121.0	122.0					3																	62142767		2203	4300	6503	62117807	SO:0001583	missense	5793			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.709G>T	3.37:g.62142767G>T	ENSP00000418112:p.Val237Phe		62117807	B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.251859	0.59212	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.66638	-0.22;-0.22	5.8	2.01	0.26516	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.413567	0.26883	N	0.022001	T	0.66356	0.2781	L	0.39566	1.225	0.49213	D	0.999769	P;P	0.52577	0.928;0.954	P;P	0.54706	0.567;0.759	T	0.64997	-0.6275	10	0.87932	D	0	.	9.719	0.40291	0.3173:0.0:0.6827:0.0	.	237;237	P23470-2;P23470	.;PTPRG_HUMAN	F	237	ENSP00000418112:V237F;ENSP00000295874:V237F	ENSP00000295874:V237F	V	+	1	0	PTPRG	62117807	0.920000	0.31207	0.963000	0.40424	0.994000	0.84299	0.708000	0.25719	0.090000	0.17273	0.563000	0.77884	GTC		0.512	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841	
SIM1	6492	hgsc.bcm.edu	37	6	100838725	100838725	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr6:100838725A>T	ENST00000369208.3	-	12	2595	c.1813T>A	c.(1813-1815)Tgt>Agt	p.C605S	SIM1_ENST00000262901.4_Missense_Mutation_p.C605S			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	605	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.C605S(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TTTGCAAAACACAGGGAGTGT	0.488																																																1	Substitution - Missense(1)	ovary(1)	6											78.0	80.0	79.0					6																	100838725		2203	4300	6503	100945446	SO:0001583	missense	6492			U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1813T>A	6.37:g.100838725A>T	ENSP00000358210:p.Cys605Ser		100945446	Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	A	13.96	2.391704	0.42410	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.03689	3.84;3.84	5.82	5.82	0.92795	Single-minded, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.01092	0.0036	N	0.19112	0.55	0.58432	D	0.999992	B	0.19445	0.036	B	0.19666	0.026	T	0.34800	-0.9814	10	0.06099	T	0.92	.	16.1986	0.82053	1.0:0.0:0.0:0.0	.	605	P81133	SIM1_HUMAN	S	605	ENSP00000358210:C605S;ENSP00000262901:C605S	ENSP00000262901:C605S	C	-	1	0	SIM1	100945446	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.912000	0.63335	2.227000	0.72691	0.455000	0.32223	TGT		0.488	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068	
TAF12	6883	hgsc.bcm.edu	37	1	28931966	28931966	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr1:28931966T>C	ENST00000263974.4	-	5	802	c.368A>G	c.(367-369)cAg>cGg	p.Q123R	TAF12_ENST00000471683.1_5'UTR|TAF12_ENST00000373824.4_Missense_Mutation_p.Q123R	NM_001135218.1	NP_001128690.1	Q16514	TAF12_HUMAN	TAF12 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 20kDa	123					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.Q123R(1)		ovary(1)|upper_aerodigestive_tract(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Renal(390;0.00121)|Breast(348;0.00502)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)		Colorectal(126;3.21e-08)|COAD - Colon adenocarcinoma(152;1.74e-06)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(1967;0.0109)|BRCA - Breast invasive adenocarcinoma(304;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		CATGTTCCACTGGCGCTCTGC	0.512																																																1	Substitution - Missense(1)	ovary(1)	1											101.0	101.0	101.0					1																	28931966		2203	4300	6503	28804553	SO:0001583	missense	6883			BC011986	CCDS326.1	1p35	2008-02-05	2002-08-29	2001-12-07	ENSG00000120656	ENSG00000120656			11545	protein-coding gene	gene with protein product		600773	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, J, 20kD"""	TAF2J		7729427	Standard	NM_005644		Approved	TAFII20	uc001bqy.3	Q16514	OTTHUMG00000003655	ENST00000263974.4:c.368A>G	1.37:g.28931966T>C	ENSP00000263974:p.Gln123Arg		28804553	D3DPM5|Q15775|Q5T077	Missense_Mutation	SNP	ENST00000263974.4	37	CCDS326.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.025713	0.75390	.	.	ENSG00000120656	ENST00000373824;ENST00000263974	.	.	.	5.65	5.65	0.86999	Histone-fold (2);Transcription initiation factor TFIID (2);	0.053759	0.85682	D	0.000000	T	0.56804	0.2010	L	0.43152	1.355	0.80722	D	1	P;P	0.43169	0.762;0.8	B;P	0.45232	0.164;0.474	T	0.60546	-0.7242	9	0.59425	D	0.04	-4.3712	14.8357	0.70180	0.0:0.0:0.0:1.0	.	93;123	Q16514-2;Q16514	.;TAF12_HUMAN	R	123	.	ENSP00000263974:Q123R	Q	-	2	0	TAF12	28804553	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.562000	0.82300	2.152000	0.67230	0.477000	0.44152	CAG		0.512	TAF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010367.1	NM_005644	
ZMIZ2	83637	hgsc.bcm.edu	37	7	44800159	44800159	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr7:44800159C>G	ENST00000309315.4	+	9	1330	c.1207C>G	c.(1207-1209)Ccc>Gcc	p.P403A	ZMIZ2_ENST00000441627.1_Missense_Mutation_p.P403A|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.P371A|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.P377A|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.P345A	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	403	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)	p.P403A(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGATCTCAAGCCCAACCTCAA	0.587																																					NSCLC(20;604 852 1948 16908 50522)											1	Substitution - Missense(1)	ovary(1)	7											173.0	180.0	178.0					7																	44800159		2136	4261	6397	44766684	SO:0001583	missense	83637			AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.1207C>G	7.37:g.44800159C>G	ENSP00000311778:p.Pro403Ala		44766684	A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	ENST00000309315.4	37	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399754	0.83120	.	.	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.53	5.53	0.82687	.	0.000000	0.56097	D	0.000037	T	0.57403	0.2051	L	0.29908	0.895	0.80722	D	1	D;D;D	0.69078	0.997;0.995;0.997	D;P;D	0.63877	0.919;0.831;0.919	T	0.58142	-0.7688	10	0.52906	T	0.07	-10.0132	19.0583	0.93076	0.0:1.0:0.0:0.0	.	377;403;345	Q8NF64-2;Q8NF64;Q8NF64-3	.;ZMIZ2_HUMAN;.	A	345;403;403;371;377;403	ENSP00000409648:P345A;ENSP00000311778:P403A;ENSP00000414723:P403A;ENSP00000396601:P371A;ENSP00000265346:P377A	ENSP00000265346:P377A	P	+	1	0	ZMIZ2	44766684	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.681000	0.54648	2.599000	0.87857	0.561000	0.74099	CCC		0.587	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449	
TIAM1	7074	hgsc.bcm.edu	37	21	32617843	32617843	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr21:32617843G>C	ENST00000286827.3	-	7	2016	c.1545C>G	c.(1543-1545)ttC>ttG	p.F515L	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.F515L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	515	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.F515L(1)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TGCTGAGGCAGAAGACAAAGT	0.527																																																1	Substitution - Missense(1)	ovary(1)	21											89.0	83.0	85.0					21																	32617843		2203	4300	6503	31539714	SO:0001583	missense	7074				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.1545C>G	21.37:g.32617843G>C	ENSP00000286827:p.Phe515Leu		31539714	B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987661	0.93106	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	D;D	0.82081	-1.57;-1.57	5.24	5.24	0.73138	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.89952	0.6864	L	0.58810	1.83	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.988;0.997;0.993;0.997	D	0.90500	0.4473	10	0.87932	D	0	.	19.0006	0.92832	0.0:0.0:1.0:0.0	.	515;515;356;515	F5GZ53;B7ZLR6;E9PD83;Q13009	.;.;.;TIAM1_HUMAN	L	515;356;515	ENSP00000286827:F515L;ENSP00000441570:F515L	ENSP00000286827:F515L	F	-	3	2	TIAM1	31539714	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.752000	0.85141	2.721000	0.93114	0.591000	0.81541	TTC		0.527	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253	
TTN	7273	hgsc.bcm.edu	37	2	179582394	179582394	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr2:179582394C>G	ENST00000591111.1	-	85	24480	c.24256G>C	c.(24256-24258)Gat>Cat	p.D8086H	TTN_ENST00000589042.1_Missense_Mutation_p.D8403H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D7159H|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12275	Ig-like 63.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.D7159H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAATTAGCATCATCTTTCAAA	0.413																																																1	Substitution - Missense(1)	ovary(1)	2											62.0	61.0	61.0					2																	179582394		1879	4100	5979	179290639	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.24256G>C	2.37:g.179582394C>G	ENSP00000465570:p.Asp8086His		179290639	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	11.06	1.526480	0.27299	.	.	ENSG00000155657	ENST00000342992	T	0.33216	1.42	5.73	5.73	0.89815	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.47911	0.1471	M	0.73430	2.235	0.80722	D	1	P	0.49358	0.923	P	0.52909	0.713	T	0.48433	-0.9036	9	0.87932	D	0	.	13.9294	0.63986	0.0:0.9215:0.0:0.0785	.	8086	Q8WZ42	TITIN_HUMAN	H	7159	ENSP00000343764:D7159H	ENSP00000343764:D7159H	D	-	1	0	TTN	179290639	0.867000	0.29959	0.986000	0.45419	0.995000	0.86356	3.236000	0.51336	2.854000	0.98071	0.655000	0.94253	GAT		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
MYO18B	84700	hgsc.bcm.edu	37	22	26164303	26164303	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr22:26164303G>C	ENST00000407587.2	+	4	589	c.420G>C	c.(418-420)aaG>aaC	p.K140N	MYO18B_ENST00000536101.1_Missense_Mutation_p.K140N|MYO18B_ENST00000335473.7_Missense_Mutation_p.K140N			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	140						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.K140N(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CAACCAAAAAGACTGTCCCCT	0.602																																																1	Substitution - Missense(1)	ovary(1)	22											35.0	41.0	39.0					22																	26164303		2033	4173	6206	24494303	SO:0001583	missense	84700			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.420G>C	22.37:g.26164303G>C	ENSP00000386096:p.Lys140Asn		24494303	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.	.	.	.	.	.	.	.	.	.	G	11.84	1.757458	0.31137	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.89415	-2.49;-2.49;-2.51	4.49	-0.0952	0.13642	.	0.000000	0.36893	N	0.002348	D	0.87245	0.6129	L	0.60455	1.87	0.09310	N	1	P;P;P	0.51351	0.906;0.944;0.944	B;P;P	0.49999	0.425;0.628;0.628	T	0.80082	-0.1531	10	0.87932	D	0	.	7.2095	0.25925	0.3636:0.0:0.6364:0.0	.	140;140;140	Q8IUG5;F5GXR6;F5GYU7	MY18B_HUMAN;.;.	N	140	ENSP00000441229:K140N;ENSP00000334563:K140N;ENSP00000386096:K140N	ENSP00000334563:K140N	K	+	3	2	MYO18B	24494303	0.003000	0.15002	0.000000	0.03702	0.225000	0.24961	0.681000	0.25320	0.086000	0.17137	0.484000	0.47621	AAG		0.602	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608	
PELI1	57162	hgsc.bcm.edu	37	2	64322051	64322051	+	Nonsense_Mutation	SNP	C	C	A			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr2:64322051C>A	ENST00000358912.4	-	7	1484	c.1042G>T	c.(1042-1044)Gga>Tga	p.G348*		NM_020651.3	NP_065702.2	Q96FA3	PELI1_HUMAN	pellino E3 ubiquitin protein ligase 1	348					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|protein K48-linked ubiquitination (GO:0070936)|response to dsRNA (GO:0043331)|response to lipopolysaccharide (GO:0032496)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.G348*(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						GCTTCACATCCAAGCCACAGA	0.488																																																1	Substitution - Nonsense(1)	ovary(1)	2											160.0	149.0	153.0					2																	64322051		2203	4300	6503	64175555	SO:0001587	stop_gained	57162				CCDS1876.1	2p13.3	2012-02-23	2012-02-23		ENSG00000197329	ENSG00000197329		"""Pellino homologs"""	8827	protein-coding gene	gene with protein product		614797	"""pellino (Drosophila) homolog 1"", ""pellino homolog 1 (Drosophila)"""			11306823, 16951688	Standard	NM_020651		Approved		uc002sct.4	Q96FA3	OTTHUMG00000129511	ENST00000358912.4:c.1042G>T	2.37:g.64322051C>A	ENSP00000351789:p.Gly348*		64175555	Q96SM0|Q9GZY5|Q9HCX0	Nonsense_Mutation	SNP	ENST00000358912.4	37	CCDS1876.1	.	.	.	.	.	.	.	.	.	.	C	40	7.981808	0.98594	.	.	ENSG00000197329	ENST00000358912	.	.	.	5.88	5.88	0.94601	.	0.046228	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.7314	20.2187	0.98312	0.0:1.0:0.0:0.0	.	.	.	.	X	348	.	ENSP00000351789:G348X	G	-	1	0	PELI1	64175555	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.780000	0.95670	0.655000	0.94253	GGA		0.488	PELI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251686.1	NM_020651	
PRR16	51334	hgsc.bcm.edu	37	5	120021809	120021809	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr5:120021809C>A	ENST00000407149.2	+	2	529	c.320C>A	c.(319-321)cCa>cAa	p.P107Q	PRR16_ENST00000446965.1_Missense_Mutation_p.P37Q|PRR16_ENST00000505123.1_Missense_Mutation_p.P37Q|PRR16_ENST00000379551.2_Missense_Mutation_p.P84Q			Q569H4	LARGN_HUMAN	proline rich 16	107	Pro-rich.				positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)			p.P84Q(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		ATTAAACCCCCAGCACACCCG	0.532																																																1	Substitution - Missense(1)	ovary(1)	5											141.0	127.0	132.0					5																	120021809		2203	4300	6503	120049708	SO:0001583	missense	51334			AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.320C>A	5.37:g.120021809C>A	ENSP00000385118:p.Pro107Gln		120049708	D3DSZ0|Q8IXY1|Q9NYI5	Missense_Mutation	SNP	ENST00000407149.2	37		.	.	.	.	.	.	.	.	.	.	C	16.66	3.184157	0.57800	.	.	ENSG00000184838	ENST00000407149;ENST00000379551;ENST00000509923;ENST00000505123;ENST00000446965	T;T;T;T;T	0.55588	0.62;0.57;0.52;0.51;0.51	5.58	4.71	0.59529	.	0.116884	0.64402	D	0.000019	T	0.63177	0.2489	L	0.56769	1.78	0.38553	D	0.949512	D;D	0.59357	0.985;0.985	P;P	0.58391	0.838;0.838	T	0.66056	-0.6018	9	.	.	.	-5.1179	13.2445	0.60016	0.0:0.9223:0.0:0.0777	.	107;84	Q569H4;Q569H4-3	PRR16_HUMAN;.	Q	107;84;37;37;37	ENSP00000385118:P107Q;ENSP00000368869:P84Q;ENSP00000421256:P37Q;ENSP00000423446:P37Q;ENSP00000405491:P37Q	.	P	+	2	0	PRR16	120049708	0.997000	0.39634	0.688000	0.30117	0.964000	0.63967	4.545000	0.60698	1.372000	0.46190	0.549000	0.68633	CCA		0.532	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371059.1	NM_016644	
